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2. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Author

Dongxue Mao, Chloe M. Reuter, Maura R.Z. Ruzhnikov, Anita E. Beck, Emily G. Farrow, Lisa T. Emrick, Jill A. Rosenfeld, Katherine M. Mackenzie, Laurie Robak, Matthew T. Wheeler, Lindsay C. Burrage, Mahim Jain, Pengfei Liu, Daniel Calame, Sébastien Küry, Martin Sillesen, Klaus Schmitz-Abe, Davide Tonduti, Luigina Spaccini, Maria Iascone, Casie A. Genetti, Mary K. Koenig, Madeline Graf, Alyssa Tran, Mercedes Alejandro, Brendan H. Lee, Isabelle Thiffault, Pankaj B. Agrawal, Jonathan A. Bernstein, Hugo J. Bellen, Hsiao-Tuan Chao, Maria T. Acosta, Margaret Adam, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Laura Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Michael Bamshad, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak-Toydemir, Anita Beck, Alan H. Beggs, Gill Bejerano, Jimmy Bennet, Beverly Berg-Rood, Raphael Bernier, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo Botto, Lauren C. Briere, Elly Brokamp, Elizabeth A. Burke, Manish J. Butte, Peter Byers, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Sirisak Chanprasert, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Michael Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina Dipple, Daniel Doherty, Naghmeh Dorrani, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Laure Fresard, William A. Gahl, Ian Glass, Rena A. Godfrey, Katie Golden-Grant, Alica M. Goldman, David B. Goldstein, Alana Grajewski, Catherine A. Groden, Andrea L. Gropman, Sihoun Hahn, Rizwan Hamid, Neil A. Hanchard, Nichole Hayes, Frances High, Anne Hing, Fuki M. Hisama, Ingrid A. Holm, Jason Hom, Martha Horike-Pyne, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Gail P. Jarvik, Jeffrey Jarvik, Suman Jayadev, Yong-hui Jiang, Jean M. Johnston, Lefkothea Karaviti, Emily G. Kelley, Dana Kiley, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Susan Korrick, Mary Koziura, Joel B. Krier, Seema R. Lalani, Byron Lam, Christina Lam, Brendan C. Lanpher, Ian R. Lanza, C. Christopher Lau, Kimberly LeBlanc, Hane Lee, Roy Levitt, Richard A. Lewis, Sharyn A. Lincoln, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Kenneth Maravilla, Thomas C. Markello, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Jacob McCauley, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Heather Mefford, J. Lawrence Merritt, Matthew Might, Ghayda Mirzaa, Eva Morava-Kozicz, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, Avi Nath, Stan F. Nelson, John H. Newman, Sarah K. Nicholas, Deborah Nickerson, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Aaron Quinlan, Wendy Raskind, Archana N. Raja, Genecee Renteria, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Robb K. Rowley, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, C. Ron Scott, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, Vandana Shashi, Jimann Shin, Rebecca Signer, Catherine H. Sillari, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Kevin S. Smith, Lilianna Solnica-Krezel, Rebecca C. Spillmann, Joan M. Stoler, Nicholas Stong, Jennifer A. Sullivan, Angela Sun, Shirley Sutton, David A. Sweetser, Virginia Sybert, Holly K. Tabor, Cecelia P. Tamburro, Queenie K.-G. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Stephanie Wallace, Nicole M. Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Daniel Wegner, Mark Wener, Monte Westerfield, Anastasia L. Wise, Lynne A. Wolfe, Jeremy D. Woods, Shinya Yamamoto, John Yang, Amanda J. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, and Stephan Zuchner

Subjects
Male, 0301 basic medicine, Proband, Ataxia, Adolescent, Developmental Disabilities, Nervous System Malformations, Leukoencephalopathy, eIF-2 Kinase, 03 medical and health sciences, 0302 clinical medicine, Leukoencephalopathies, Report, Genetics, medicine, Humans, Missense mutation, Kinase activity, Child, Genetics (clinical), biology, Leukodystrophy, Genetic Variation, Infant, medicine.disease, White Matter, Hypotonia, Hereditary Central Nervous System Demyelinating Diseases, 030104 developmental biology, Child, Preschool, eIF2B, Immunology, biology.protein, Female, medicine.symptom, 030217 neurology & neurosurgery
Abstract

EIF2AK1 and EIF2AK2 encode members of the eukaryotic translation initiation factor 2 alpha kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with deleterious variants in EIF2AK1 and EIF2AK2 have not been reported. Here, we describe the identification of nine unrelated individuals with heterozygous de novo missense variants in EIF2AK1 (1/9) or EIF2AK2 (8/9). Features seen in these nine individuals include white matter alterations (9/9), developmental delay (9/9), impaired language (9/9), cognitive impairment (8/9), ataxia (6/9), dysarthria in probands with verbal ability (6/9), hypotonia (7/9), hypertonia (6/9), and involuntary movements (3/9). Individuals with EIF2AK2 variants also exhibit neurological regression in the setting of febrile illness or infection. We use mammalian cell lines and proband-derived fibroblasts to further confirm the pathogenicity of variants in these genes and found reduced kinase activity. EIF2AKs phosphorylate eukaryotic translation initiation factor 2 subunit 1 (EIF2S1, also known as EIF2α), which then inhibits EIF2B activity. Deleterious variants in genes encoding EIF2B proteins cause childhood ataxia with central nervous system hypomyelination/vanishing white matter (CACH/VWM), a leukodystrophy characterized by neurologic regression in the setting of febrile illness and other stressors. Our findings indicate that EIF2AK2 missense variants cause a neurodevelopmental syndrome that may share phenotypic and pathogenic mechanisms with CACH/VWM.

Published
2020

3. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Author

Aashim Bhatia, Bret C. Mobley, Joy Cogan, Mary E. Koziura, Elly Brokamp, John Phillips, John Newman, Steven A. Moore, Rizwan Hamid, Maria T. Acosta, David R. Adams, Pankaj Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak-Toydemir, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David P. Bick, Camille L. Birch, Stephanie Bivona, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lorenzo Botto, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D'Souza, Surendra Dasari, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell'Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Laura Duncan, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Laure Fresard, William A. Gahl, Rena A. Godfrey, Alica M. Goldman, David B. Goldstein, Jean-Philippe F. Gourdine, Alana Grajewski, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Neil A. Hanchard, Nichole Hayes, Frances High, Ingrid A. Holm, Jason Hom, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, Lefkothea Karaviti, Emily G. Kelley, Dana Kiley, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Susan Korrick, Mary Koziura, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, Byron Lam, Brendan C. Lanpher, Ian R. Lanza, C. Christopher Lau, Jozef Lazar, Kimberly LeBlanc, Brendan H. Lee, Hane Lee, Roy Levitt, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Sandra K. Loo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Thomas C. Markello, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Thomas May, Jacob McCauley, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Thomas O. Metz, Matthew Might, Eva Morava-Kozicz, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, Avi Nath, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Aaron Quinlan, Archana N. Raja, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Robb K. Rowley, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, Vandana Shashi, Kathleen Shields, Jimann Shin, Rebecca Signer, Catherine H. Sillari, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Kevin S. Smith, Lilianna Solnica-Krezel, Rebecca C. Spillmann, Joan M. Stoler, Nicholas Stong, Jennifer A. Sullivan, Shirley Sutton, David A. Sweetser, Holly K. Tabor, Cecelia P. Tamburro, Queenie K.-G. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Daniel Wegner, Monte Westerfield, Matthew T. Wheeler, Anastasia L. Wise, Lynne A. Wolfe, Jeremy D. Woods, Elizabeth A. Worthey, Shinya Yamamoto, John Yang, Amanda J. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, and Stephan Zuchner

Subjects
medicine.medical_specialty, Adolescent, Gene mutation, Article, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, Atrophy, Humans, Medicine, Radiology, Nuclear Medicine and imaging, Muscular dystrophy, Muscle, Skeletal, Gluteal muscles, Muscle Weakness, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscle weakness, Magnetic resonance imaging, medicine.disease, Magnetic Resonance Imaging, Muscular Atrophy, medicine.anatomical_structure, Lower Extremity, Muscular Dystrophies, Limb-Girdle, 030220 oncology & carcinogenesis, Female, Radiology, Iliopsoas, medicine.symptom, business, Molecular Chaperones
Abstract

Mutations in the torsinA-interacting protein 1 (TOR1AIP1) gene result in a severe muscular dystrophy with minimal literature in the pediatric population. We review a case of TOR1AIP1 gene mutation in a 16-year-old Caucasian female with a long history of muscle weakness. Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. MRI findings seven years later included extensive atrophy of the lower extremities, with severe progression, including the gluteal muscles, iliopsoas, rectus femoris, and obturator internus. There was also significant atrophy of the rectus abdominis and internal and external oblique muscles, and iliacus muscles. The MRI findings showed more proximal involvement of lower extremities and no atrophy of the tibialis anterior, making TOR1AIP1 the more likely genetic cause. Muscle biopsy findings supported TOR1AIP1 limb-girdle muscular dystrophy. Though rare, TOR1AIP1 gene mutation occurs in pediatric patients and MRI can aid in diagnosis and help differentiate from other types of muscular dystrophy. Genetic and pathology workup is also crucial to accurate diagnosis and possible treatment of these patients.

Published
2019

4. One is the loneliest number: genotypic matchmaking using the electronic health record

Author

Brokamp, Elly, primary, Koziura, Mary E., additional, Phillips, John A., additional, Tang, Leigh Anne, additional, Cogan, Joy D., additional, Rives, Lynette C., additional, Robertson, Amy K., additional, Duncan, Laura, additional, Bican, Anna, additional, Peterson, Josh F., additional, Newman, John H., additional, Hamid, Rizwan, additional, Bastarache, Lisa, additional, Alejandro, Mercedes E., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Balasubramanyam, Ashok, additional, Bostwick, Bret L., additional, Burrage, Lindsay C., additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Craigen, William J., additional, Dhar, Shweta U., additional, Emrick, Lisa T., additional, Goldman, Alica M., additional, Hanchard, Neil A., additional, Jamal, Fariha, additional, Karaviti, Lefkothea, additional, Lalani, Seema R., additional, Lee, Brendan H., additional, Lewis, Richard A., additional, Marom, Ronit, additional, Moretti, Paolo M., additional, Murdock, David R., additional, Nicholas, Sarah K., additional, Orengo, James P., additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Rosenfeld, Jill A., additional, Samson, Susan L., additional, Scott, Daryl A., additional, Tran, Alyssa A., additional, Vogel, Tiphanie P., additional, Bellen, Hugo J., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Eng, Christine M., additional, Liu, Pengfei, additional, Ward, Patricia A., additional, Goldstein, David B., additional, Stong, Nicholas, additional, Cope, Heidi, additional, Jiang, Yong-hui, additional, McConkie-Rosell, Allyn, additional, Schoch, Kelly, additional, Shashi, Vandana, additional, Spillmann, Rebecca C., additional, Sullivan, Jennifer A., additional, Tan, Queenie K.-G., additional, Walley, Nicole M., additional, Agrawal, Pankaj, additional, Beggs, Alan H., additional, Berry, Gerard T., additional, Briere, Lauren C., additional, Cooper, Cynthia M., additional, Cobban, Laurel A., additional, Fieg, Elizabeth L., additional, High, Frances, additional, Holm, Ingrid A., additional, Korrick, Susan, additional, Krier, Joel B., additional, Lincoln, Sharyn A., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, MacRae, Calum A., additional, Pallais, J. Carl, additional, Rodan, Lance H., additional, Silverman, Edwin K., additional, Stoler, Joan M., additional, Sweetser, David A., additional, Walker, Melissa, additional, Walsh, Chris A., additional, Esteves, Cecilia, additional, Kelley, Emily G., additional, Kohane, Isaac S., additional, LeBlanc, Kimberly, additional, McCray, Alexa T., additional, Might, Matthew, additional, Bick, David P., additional, Birch, Camille L., additional, Boone, Braden E., additional, Brown, Donna M., additional, Dorset, Daniel C., additional, Jones, Angela L., additional, Lazar, Jozef, additional, Levy, Shawn E., additional, May, Thomas, additional, Newberry, J. Scott, additional, Worthey, Elizabeth A., additional, Lanza, Ian R., additional, Oglesbee, Devin, additional, Morava-Kozicz, Eva, additional, Lanpher, Brendan C., additional, Dasari, Surendra, additional, Bademci, Guney, additional, Barbouth, Deborah, additional, Bivona, Stephanie, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Forghani, Irman, additional, Grajewski, Alana, additional, Isasi, Rosario, additional, Lam, Byron, additional, Levitt, Roy, additional, Liu, Xue Zhong, additional, McCauley, Jacob, additional, Sacco, Ralph, additional, Saporta, Mario, additional, Schaechter, Judy, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Zuchner, Stephan, additional, Batzli, Gabriel F., additional, Colley, Heather A., additional, Dayal, Jyoti G., additional, Eckstein, David J., additional, Krasnewich, Donna M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mulvihill, John J., additional, Rowley, Robb K., additional, Sillari, Catherine H., additional, Tamburro, Cecelia P., additional, Urv, Tiina K., additional, Wise, Anastasia L., additional, Acosta, Maria T., additional, Bonnenmann, Carsten, additional, Burke, Elizabeth A., additional, D’Souza, Precilla, additional, Davids, Mariska, additional, Draper, David D., additional, Estwick, Tyra, additional, Ferreira, Carlos, additional, Godfrey, Rena A., additional, Groden, Catherine A., additional, Johnston, Jean M., additional, Lau, C. Christopher, additional, Macnamara, Ellen F., additional, Maduro, Valerie V., additional, Markello, Thomas C., additional, Morimoto, Marie, additional, Nath, Avi, additional, Novacic, Donna, additional, Pusey, Barbara N., additional, Sharma, Prashant, additional, Toro, Camilo, additional, Wahl, Colleen E., additional, Yu, Guoyun, additional, Gropman, Andrea L., additional, Baker, Eva, additional, Adams, David R., additional, Gahl, William A., additional, Malicdan, May Christine V., additional, Tifft, Cynthia J., additional, Wolfe, Lynne A., additional, Yang, John, additional, Brush, Matthew, additional, Gourdine, Jean-Philippe F., additional, Haendel, Melissa, additional, Koeller, David M., additional, Kyle, Jennifer E., additional, Metz, Thomas O., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Ashley, Euan A., additional, Bernstein, Jonathan A., additional, Bonner, Devon, additional, Coakley, Terra R., additional, Fernandez, Liliana, additional, Fisher, Paul G., additional, Hom, Jason, additional, Huang, Yong, additional, Kohler, Jennefer N., additional, Majcherska, Marta M., additional, Marwaha, Shruti, additional, McCormack, Colleen E., additional, Reuter, Chloe M., additional, Sampson, Jacinda B., additional, Smith, Kevin S., additional, Wheeler, Matthew T., additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Ruzhnikov, Maura, additional, Fresard, Laure, additional, Tabor, Holly K., additional, Raja, Archana N., additional, Bejerano, Gill, additional, Martin, Beth A., additional, Sutton, Shirley, additional, Allard, Patrick, additional, Butte, Manish J., additional, Dell’Angelica, Esteban C., additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Fogel, Brent L., additional, Huang, Alden, additional, Krakow, Deborah, additional, Lee, Hane, additional, Loo, Sandra K., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Nelson, Stanley F., additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Renteria, Genecee, additional, Signer, Rebecca H., additional, Sinsheimer, Janet S., additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Woods, Jeremy D., additional, Yoon, Amanda J., additional, Botto, Lorenzo, additional, Andrews, Ashley, additional, Longo, Nicola, additional, Carey, John, additional, Bohnsack, John, additional, Viskochil, Dave, additional, Paolo, Moretti, additional, Laura, Pace, additional, Alvey, Justin, additional, Bale, Jim, additional, Marth, Gabor, additional, Velinder, Matt, additional, Quinlan, Aaron, additional, Mao, Rong, additional, Bayrak-Toydemir, Pinar, additional, Postlethwait, John H., additional, Westerfield, Monte, additional, Shakachite, Lisa, additional, Cole, F. Sessions, additional, Hayes, Nichole, additional, Kiley, Dana, additional, Shields, Kathleen, additional, Sisco, Kathy, additional, Wambach, Jennifer, additional, Wegner, Daniel, additional, Baldridge, Dustin, additional, Schedl, Timothy, additional, Solnica-Krezel, Lilianna, additional, Pak, Stephen, additional, and Shin, Jimann, additional

Published
2021
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5. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Author

Elena-Raluca Nicoli, Mary R. Weston, Mary Hackbarth, Alissa Becerril, Austin Larson, Wadih M. Zein, Peter R. Baker, John Douglas Burke, Heidi Dorward, Mariska Davids, Yan Huang, David R. Adams, Patricia M. Zerfas, Dong Chen, Thomas C. Markello, Camilo Toro, Tim Wood, Gene Elliott, Mylinh Vu, Wei Zheng, Lisa J. Garrett, Cynthia J. Tifft, William A. Gahl, Debra L. Day-Salvatore, Joseph A. Mindell, May Christine V. Malicdan, Maria T. Acosta, Pankaj Agrawal, Mercedes E. Alejandro, Patrick Allard, Justin Alvey, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Guney Bademci, Eva Baker, Ashok Balasubramanyam, Dustin Baldridge, Jim Bale, Deborah Barbouth, Gabriel F. Batzli, Pinar Bayrak-Toydemir, Alan H. Beggs, Gill Bejerano, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, David P. Bick, Camille L. Birch, Stephanie Bivona, John Bohnsack, Carsten Bonnenmann, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lorenzo Botto, Lauren C. Briere, Elly Brokamp, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, John Carey, Olveen Carrasquillo, Ta Chen Peter Chang, Hsiao-Tuan Chao, Gary D. Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D'Souza, Surendra Dasari, Jyoti G. Dayal, Esteban C. Dell'Angelica, Shweta U. Dhar, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, Laura Duncan, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Cecilia Esteves, Tyra Estwick, Liliana Fernandez, Carlos Ferreira, Elizabeth L. Fieg, Paul G. Fisher, Brent L. Fogel, Irman Forghani, Laure Fresard, Rena A. Godfrey, Alica M. Goldman, David B. Goldstein, Jean-Philippe F. Gourdine, Alana Grajewski, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Nichole Hayes, Frances High, Ingrid A. Holm, Jason Hom, Alden Huang, Yong Huang, Rosario Isasi, Fariha Jamal, Yong-hui Jiang, Jean M. Johnston, Angela L. Jones, Lefkothea Karaviti, Emily G. Kelley, Dana Kiley, David M. Koeller, Isaac S. Kohane, Jennefer N. Kohler, Deborah Krakow, Donna M. Krasnewich, Susan Korrick, Mary Koziura, Joel B. Krier, Jennifer E. Kyle, Seema R. Lalani, Byron Lam, Brendan C. Lanpher, Ian R. Lanza, C. Christopher Lau, Jozef Lazar, Kimberly LeBlanc, Brendan H. Lee, Hane Lee, Roy Levitt, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Pengfei Liu, Xue Zhong Liu, Nicola Longo, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, Laura A. Mamounas, Teri A. Manolio, Rong Mao, Ronit Marom, Gabor Marth, Beth A. Martin, Martin G. Martin, Julian A. Martínez-Agosto, Shruti Marwaha, Thomas May, Jacob McCauley, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Thomas O. Metz, Matthew Might, Eva Morava-Kozicz, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, David R. Murdock, Avi Nath, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Devin Oglesbee, James P. Orengo, Laura Pace, Stephen Pak, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Aaron Quinlan, Archana N. Raja, Genecee Renteria, Chloe M. Reuter, Lynette Rives, Amy K. Robertson, Lance H. Rodan, Jill A. Rosenfeld, Robb K. Rowley, Maura Ruzhnikov, Ralph Sacco, Jacinda B. Sampson, Susan L. Samson, Mario Saporta, Judy Schaechter, Timothy Schedl, Kelly Schoch, Daryl A. Scott, Lisa Shakachite, Prashant Sharma, Vandana Shashi, Kathleen Shields, Jimann Shin, Rebecca Signer, Catherine H. Sillari, Edwin K. Silverman, Janet S. Sinsheimer, Kathy Sisco, Kevin S. Smith, Lilianna Solnica-Krezel, Rebecca C. Spillmann, Joan M. Stoler, Nicholas Stong, Jennifer A. Sullivan, Shirley Sutton, David A. Sweetser, Holly K. Tabor, Cecelia P. Tamburro, Queenie K.-G. Tan, Mustafa Tekin, Fred Telischi, Willa Thorson, Alyssa A. Tran, Tiina K. Urv, Matt Velinder, Dave Viskochil, Tiphanie P. Vogel, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Melissa Walker, Jennifer Wambach, Jijun Wan, Lee-kai Wang, Michael F. Wangler, Patricia A. Ward, Katrina M. Waters, Bobbie-Jo M. Webb-Robertson, Daniel Wegner, Monte Westerfield, Matthew T. Wheeler, Anastasia L. Wise, Lynne A. Wolfe, Jeremy D. Woods, Elizabeth A. Worthey, Shinya Yamamoto, John Yang, Amanda J. Yoon, Guoyun Yu, Diane B. Zastrow, Chunli Zhao, and Stephan Zuchner

Subjects
Male, 0301 basic medicine, Albinism, Antiporter, Vacuole, Article, Organomegaly, Mice, Xenopus laevis, 03 medical and health sciences, 0302 clinical medicine, Chloride Channels, Lysosome, Genetics, medicine, Lysosomal storage disease, Animals, Humans, Genetics (clinical), Hypopigmentation, biology, Chemistry, Genetic Variation, Infant, Fibroblasts, Hydrogen-Ion Concentration, medicine.disease, Molecular biology, Lysosomal Storage Diseases, 030104 developmental biology, medicine.anatomical_structure, Oocytes, biology.protein, Female, CLCN7, medicine.symptom, Lysosomes, Acids, 030217 neurology & neurosurgery, Intracellular
Abstract

Optimal lysosome function requires maintenance of an acidic pH maintained by proton pumps in combination with a counterion transporter such as the Cl(−)/H(+) exchanger, CLCN7 (ClC-7), encoded by CLCN7. The role of ClC-7 in maintaining lysosomal pH has been controversial. In this paper, we performed clinical and genetic evaluations of two children of different ethnicities. Both children had delayed myelination and development, organomegaly, and hypopigmentation, but neither had osteopetrosis. Whole-exome and -genome sequencing revealed a de novo c.2144A>G variant in CLCN7 in both affected children. This p.Tyr715Cys variant, located in the C-terminal domain of ClC-7, resulted in increased outward currents when it was heterologously expressed in Xenopus oocytes. Fibroblasts from probands displayed a lysosomal pH approximately 0.2 units lower than that of control cells, and treatment with chloroquine normalized the pH. Primary fibroblasts from both probands also exhibited markedly enlarged intracellular vacuoles; this finding was recapitulated by the overexpression of human p.Tyr715Cys CLCN7 in control fibroblasts, reflecting the dominant, gain-of-function nature of the variant. A mouse harboring the knock-in Clcn7 variant exhibited hypopigmentation, hepatomegaly resulting from abnormal storage, and enlarged vacuoles in cultured fibroblasts. Our results show that p.Tyr715Cys is a gain-of-function CLCN7 variant associated with developmental delay, organomegaly, and hypopigmentation resulting from lysosomal hyperacidity, abnormal storage, and enlarged intracellular vacuoles. Our data supports the hypothesis that the ClC-7 antiporter plays a critical role in maintaining lysosomal pH.

Published
2019

7. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

Author

Mao, Dongxue, primary, Reuter, Chloe M., additional, Ruzhnikov, Maura R.Z., additional, Beck, Anita E., additional, Farrow, Emily G., additional, Emrick, Lisa T., additional, Rosenfeld, Jill A., additional, Mackenzie, Katherine M., additional, Robak, Laurie, additional, Wheeler, Matthew T., additional, Burrage, Lindsay C., additional, Jain, Mahim, additional, Liu, Pengfei, additional, Calame, Daniel, additional, Küry, Sébastien, additional, Sillesen, Martin, additional, Schmitz-Abe, Klaus, additional, Tonduti, Davide, additional, Spaccini, Luigina, additional, Iascone, Maria, additional, Genetti, Casie A., additional, Koenig, Mary K., additional, Graf, Madeline, additional, Tran, Alyssa, additional, Alejandro, Mercedes, additional, Lee, Brendan H., additional, Thiffault, Isabelle, additional, Agrawal, Pankaj B., additional, Bernstein, Jonathan A., additional, Bellen, Hugo J., additional, Chao, Hsiao-Tuan, additional, Acosta, Maria T., additional, Adam, Margaret, additional, Adams, David R., additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Alvey, Justin, additional, Amendola, Laura, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Bejerano, Gill, additional, Bennet, Jimmy, additional, Berg-Rood, Beverly, additional, Bernier, Raphael, additional, Berry, Gerard T., additional, Bican, Anna, additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Burke, Elizabeth A., additional, Butte, Manish J., additional, Byers, Peter, additional, Carey, John, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Earl, Dawn, additional, Eckstein, David J., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Gahl, William A., additional, Glass, Ian, additional, Godfrey, Rena A., additional, Golden-Grant, Katie, additional, Goldman, Alica M., additional, Goldstein, David B., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Hahn, Sihoun, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kiley, Dana, additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C. Christopher, additional, LeBlanc, Kimberly, additional, Lee, Hane, additional, Levitt, Roy, additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Maravilla, Kenneth, additional, Markello, Thomas C., additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Mefford, Heather, additional, Merritt, J. Lawrence, additional, Might, Matthew, additional, Mirzaa, Ghayda, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newman, John H., additional, Nicholas, Sarah K., additional, Nickerson, Deborah, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raskind, Wendy, additional, Raja, Archana N., additional, Renteria, Genecee, additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rowley, Robb K., additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Scott, C. Ron, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sun, Angela, additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Wallace, Stephanie, additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Wener, Mark, additional, Westerfield, Monte, additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, and Zuchner, Stephan, additional

Published
2020
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8. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Author

Johnson, Brett V., primary, Kumar, Raman, additional, Oishi, Sabrina, additional, Alexander, Suzy, additional, Kasherman, Maria, additional, Vega, Michelle Sanchez, additional, Ivancevic, Atma, additional, Gardner, Alison, additional, Domingo, Deepti, additional, Corbett, Mark, additional, Parnell, Euan, additional, Yoon, Sehyoun, additional, Oh, Tracey, additional, Lines, Matthew, additional, Lefroy, Henrietta, additional, Kini, Usha, additional, Van Allen, Margot, additional, Grønborg, Sabine, additional, Mercier, Sandra, additional, Küry, Sébastien, additional, Bézieau, Stéphane, additional, Pasquier, Laurent, additional, Raynaud, Martine, additional, Afenjar, Alexandra, additional, Billette de Villemeur, Thierry, additional, Keren, Boris, additional, Désir, Julie, additional, Van Maldergem, Lionel, additional, Marangoni, Martina, additional, Dikow, Nicola, additional, Koolen, David A., additional, VanHasselt, Peter M., additional, Weiss, Marjan, additional, Zwijnenburg, Petra, additional, Sa, Joaquim, additional, Reis, Claudia Falcao, additional, López-Otín, Carlos, additional, Santiago-Fernández, Olaya, additional, Fernández-Jaén, Alberto, additional, Rauch, Anita, additional, Steindl, Katharina, additional, Joset, Pascal, additional, Goldstein, Amy, additional, Madan-Khetarpal, Suneeta, additional, Infante, Elena, additional, Zackai, Elaine, additional, Mcdougall, Carey, additional, Narayanan, Vinodh, additional, Ramsey, Keri, additional, Mercimek-Andrews, Saadet, additional, Pena, Loren, additional, Shashi, Vandana, additional, Schoch, Kelly, additional, Sullivan, Jennifer A., additional, Pinto e Vairo, Filippo, additional, Pichurin, Pavel N., additional, Ewing, Sarah A., additional, Barnett, Sarah S., additional, Klee, Eric W., additional, Perry, M. Scott, additional, Koenig, Mary Kay, additional, Keegan, Catherine E., additional, Schuette, Jane L., additional, Asher, Stephanie, additional, Perilla-Young, Yezmin, additional, Smith, Laurie D., additional, Rosenfeld, Jill A., additional, Bhoj, Elizabeth, additional, Kaplan, Paige, additional, Li, Dong, additional, Oegema, Renske, additional, van Binsbergen, Ellen, additional, van der Zwaag, Bert, additional, Smeland, Marie Falkenberg, additional, Cutcutache, Ioana, additional, Page, Matthew, additional, Armstrong, Martin, additional, Lin, Angela E., additional, Steeves, Marcie A., additional, Hollander, Nicolette den, additional, Hoffer, Mariëtte J.V., additional, Reijnders, Margot R.F., additional, Demirdas, Serwet, additional, Koboldt, Daniel C., additional, Bartholomew, Dennis, additional, Mosher, Theresa Mihalic, additional, Hickey, Scott E., additional, Shieh, Christine, additional, Sanchez-Lara, Pedro A., additional, Graham, John M., additional, Tezcan, Kamer, additional, Schaefer, G.B., additional, Danylchuk, Noelle R., additional, Asamoah, Alexander, additional, Jackson, Kelly E., additional, Yachelevich, Naomi, additional, Au, Margaret, additional, Pérez-Jurado, Luis A., additional, Kleefstra, Tjitske, additional, Penzes, Peter, additional, Wood, Stephen A., additional, Burne, Thomas, additional, Pierson, Tyler Mark, additional, Piper, Michael, additional, Gécz, Jozef, additional, Jolly, Lachlan A., additional, Acosta, Maria T., additional, Adams, David R., additional, Aday, Aaron, additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Beggs, Alan H., additional, Bellen, Hugo J., additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bivona, Stephanie, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Carrasquillo, Olveen, additional, Peter Chang, Ta Chen, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D'Souza, Precilla, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Davidson, Jean M., additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Dries, Annika M., additional, Duncan, Laura, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Enns, Gregory M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Friedman, Noah D., additional, Gahl, William A., additional, Godfrey, Rena A., additional, Goldman, Alica M., additional, Goldstein, David B., additional, Gourdine, Jean-Philippe F., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, High, Frances, additional, Holm, Ingrid A., additional, Hom, Jason, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Markello, Thomas C., additional, Marom, Ronit, additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Merker, Jason D., additional, Metz, Thomas O., additional, Might, Matthew, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina GS., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Renteri, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rowley, Robb K., additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shields, Kathleen, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sweetser, David A., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Vogel, Tiphanie P., additional, Waggott, Daryl M., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Wegner, Daniel, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, Zuchner, Stephan, additional, and Gahl, William, additional

Published
2020
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9. Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy

Author

Bhatia, Aashim, primary, Mobley, Bret C., additional, Cogan, Joy, additional, Koziura, Mary E., additional, Brokamp, Elly, additional, Phillips, John, additional, Newman, John, additional, Moore, Steven A., additional, Hamid, Rizwan, additional, Acosta, Maria T., additional, Adams, David R., additional, Agrawal, Pankaj, additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Alvey, Justin, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Bayrak-Toydemir, Pinar, additional, Beggs, Alan H., additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bivona, Stephanie, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D'Souza, Precilla, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Gahl, William A., additional, Godfrey, Rena A., additional, Goldman, Alica M., additional, Goldstein, David B., additional, Gourdine, Jean-Philippe F., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hanchard, Neil A., additional, Hayes, Nichole, additional, High, Frances, additional, Holm, Ingrid A., additional, Hom, Jason, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kiley, Dana, additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Loo, Sandra K., additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Markello, Thomas C., additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Metz, Thomas O., additional, Might, Matthew, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raja, Archana N., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rowley, Robb K., additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shields, Kathleen, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Wegner, Daniel, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, and Zuchner, Stephan, additional

Published
2019
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10. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects

Author

Accogli, Andrea, primary, Calabretta, Sara, additional, St-Onge, Judith, additional, Boudrahem-Addour, Nassima, additional, Dionne-Laporte, Alexandre, additional, Joset, Pascal, additional, Azzarello-Burri, Silvia, additional, Rauch, Anita, additional, Krier, Joel, additional, Fieg, Elizabeth, additional, Pallais, Juan C., additional, McConkie-Rosell, Allyn, additional, McDonald, Marie, additional, Freedman, Sharon F., additional, Rivière, Jean-Baptiste, additional, Lafond-Lapalme, Joël, additional, Simpson, Brittany N., additional, Hopkin, Robert J., additional, Trimouille, Aurélien, additional, Van-Gils, Julien, additional, Begtrup, Amber, additional, McWalter, Kirsty, additional, Delphine, Heron, additional, Keren, Boris, additional, Genevieve, David, additional, Argilli, Emanuela, additional, Sherr, Elliott H., additional, Severino, Mariasavina, additional, Rouleau, Guy A., additional, Yam, Patricia T., additional, Charron, Frédéric, additional, Srour, Myriam, additional, Acosta, Maria T., additional, Adams, David R., additional, Agrawal, Pankaj, additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Alvey, Justin, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Bayrak-Toydemir, Pinar, additional, Beggs, Alan H., additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bivona, Stephanie, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D’Souza, Precilla, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell’Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Gahl, William A., additional, Godfrey, Rena A., additional, Goldman, Alica M., additional, Goldstein, David B., additional, Gourdine, Jean-Philippe F., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hayes, Nichole, additional, High, Frances, additional, Holm, Ingrid A., additional, Hom, Jason, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kiley, Dana, additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Markello, Thomas C., additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McCauley, Jacob, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Metz, Thomas O., additional, Might, Matthew, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raja, Archana N., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rowley, Robb K., additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shields, Kathleen, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Wegner, Daniel, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, and Zuchner, Stephan, additional

Published
2019
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11. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

Author

Kanca, Oguz, primary, Andrews, Jonathan C., additional, Lee, Pei-Tseng, additional, Patel, Chirag, additional, Braddock, Stephen R., additional, Slavotinek, Anne M., additional, Cohen, Julie S., additional, Gubbels, Cynthia S., additional, Aldinger, Kimberly A., additional, Williams, Judy, additional, Indaram, Maanasa, additional, Fatemi, Ali, additional, Yu, Timothy W., additional, Agrawal, Pankaj B., additional, Vezina, Gilbert, additional, Simons, Cas, additional, Crawford, Joanna, additional, Lau, C. Christopher, additional, Chung, Wendy K., additional, Markello, Thomas C., additional, Dobyns, William B., additional, Adams, David R., additional, Gahl, William A., additional, Wangler, Michael F., additional, Yamamoto, Shinya, additional, Bellen, Hugo J., additional, Malicdan, May Christine V., additional, Acosta, Maria T., additional, Agrawal, Pankaj, additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Alvey, Justin, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Bayrak-Toydemir, Pinar, additional, Beggs, Alan H., additional, Bejerano, Gill, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bivona, Stephanie, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D'Souza, Precilla, additional, Dasari, Surendra, additional, Davids, Mariska, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Godfrey, Rena A., additional, Goldman, Alica M., additional, Goldstein, David B., additional, Gourdine, Jean-Philippe F., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hayes, Nichole, additional, High, Frances, additional, Holm, Ingrid A., additional, Hom, Jason, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kiley, Dana, additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lazar, Jozef, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Metz, Thomas O., additional, Might, Matthew, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raja, Archana N., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rowley, Robb K., additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shields, Kathleen, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Wegner, Daniel, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Worthey, Elizabeth A., additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, and Zuchner, Stephan, additional

Published
2019
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12. Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification

Author

Nicoli, Elena-Raluca, primary, Weston, Mary R., additional, Hackbarth, Mary, additional, Becerril, Alissa, additional, Larson, Austin, additional, Zein, Wadih M., additional, Baker, Peter R., additional, Burke, John Douglas, additional, Dorward, Heidi, additional, Davids, Mariska, additional, Huang, Yan, additional, Adams, David R., additional, Zerfas, Patricia M., additional, Chen, Dong, additional, Markello, Thomas C., additional, Toro, Camilo, additional, Wood, Tim, additional, Elliott, Gene, additional, Vu, Mylinh, additional, Zheng, Wei, additional, Garrett, Lisa J., additional, Tifft, Cynthia J., additional, Gahl, William A., additional, Day-Salvatore, Debra L., additional, Mindell, Joseph A., additional, Malicdan, May Christine V., additional, Acosta, Maria T., additional, Agrawal, Pankaj, additional, Alejandro, Mercedes E., additional, Allard, Patrick, additional, Alvey, Justin, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Azamian, Mahshid S., additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Baker, Eva, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Barbouth, Deborah, additional, Batzli, Gabriel F., additional, Bayrak-Toydemir, Pinar, additional, Beggs, Alan H., additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bican, Anna, additional, Bick, David P., additional, Birch, Camille L., additional, Bivona, Stephanie, additional, Bohnsack, John, additional, Bonnenmann, Carsten, additional, Bonner, Devon, additional, Boone, Braden E., additional, Bostwick, Bret L., additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brokamp, Elly, additional, Brown, Donna M., additional, Brush, Matthew, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Chang, Ta Chen Peter, additional, Chao, Hsiao-Tuan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cooper, Cynthia M., additional, Cope, Heidi, additional, Craigen, William J., additional, D'Souza, Precilla, additional, Dasari, Surendra, additional, Dayal, Jyoti G., additional, Dell'Angelica, Esteban C., additional, Dhar, Shweta U., additional, Dorrani, Naghmeh, additional, Dorset, Daniel C., additional, Douine, Emilie D., additional, Draper, David D., additional, Duncan, Laura, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Esteves, Cecilia, additional, Estwick, Tyra, additional, Fernandez, Liliana, additional, Ferreira, Carlos, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fresard, Laure, additional, Godfrey, Rena A., additional, Goldman, Alica M., additional, Goldstein, David B., additional, Gourdine, Jean-Philippe F., additional, Grajewski, Alana, additional, Groden, Catherine A., additional, Gropman, Andrea L., additional, Haendel, Melissa, additional, Hamid, Rizwan, additional, Hanchard, Neil A., additional, Hayes, Nichole, additional, High, Frances, additional, Holm, Ingrid A., additional, Hom, Jason, additional, Huang, Alden, additional, Huang, Yong, additional, Isasi, Rosario, additional, Jamal, Fariha, additional, Jiang, Yong-hui, additional, Johnston, Jean M., additional, Jones, Angela L., additional, Karaviti, Lefkothea, additional, Kelley, Emily G., additional, Kiley, Dana, additional, Koeller, David M., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Korrick, Susan, additional, Koziura, Mary, additional, Krier, Joel B., additional, Kyle, Jennifer E., additional, Lalani, Seema R., additional, Lam, Byron, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, Lau, C. Christopher, additional, Lazar, Jozef, additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Lee, Hane, additional, Levitt, Roy, additional, Levy, Shawn E., additional, Lewis, Richard A., additional, Lincoln, Sharyn A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Majcherska, Marta M., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, May, Thomas, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCormack, Colleen E., additional, McCray, Alexa T., additional, Metz, Thomas O., additional, Might, Matthew, additional, Morava-Kozicz, Eva, additional, Moretti, Paolo M., additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Murdock, David R., additional, Nath, Avi, additional, Nelson, Stan F., additional, Newberry, J. Scott, additional, Newman, John H., additional, Nicholas, Sarah K., additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Palmer, Christina G.S., additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Phillips, John A., additional, Posey, Jennifer E., additional, Postlethwait, John H., additional, Potocki, Lorraine, additional, Pusey, Barbara N., additional, Quinlan, Aaron, additional, Raja, Archana N., additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenfeld, Jill A., additional, Rowley, Robb K., additional, Ruzhnikov, Maura, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Samson, Susan L., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Shakachite, Lisa, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shields, Kathleen, additional, Shin, Jimann, additional, Signer, Rebecca, additional, Sillari, Catherine H., additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Spillmann, Rebecca C., additional, Stoler, Joan M., additional, Stong, Nicholas, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Tabor, Holly K., additional, Tamburro, Cecelia P., additional, Tan, Queenie K.-G., additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tran, Alyssa A., additional, Urv, Tiina K., additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walley, Nicole M., additional, Walsh, Chris A., additional, Walker, Melissa, additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Waters, Katrina M., additional, Webb-Robertson, Bobbie-Jo M., additional, Wegner, Daniel, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Wise, Anastasia L., additional, Wolfe, Lynne A., additional, Woods, Jeremy D., additional, Worthey, Elizabeth A., additional, Yamamoto, Shinya, additional, Yang, John, additional, Yoon, Amanda J., additional, Yu, Guoyun, additional, Zastrow, Diane B., additional, Zhao, Chunli, additional, and Zuchner, Stephan, additional

Published
2019
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15. Erratum to 'Worldwide comparison of ovarian cancer survival: Histological group and stage at diagnosis (CONCORD-2)' [Gynecol. Oncol. 144 (2017) 396–404]

Author

Matz, Melissa, Coleman, Michel P, Carreira, Helena, Salmerã³n, Diego, Chirlaque, Maria Dolores, Allemani, Claudia, Bouzbid, S, Hamdi-chérif, M, Zaidi, Z, Bah, E, Swaminathan, R, Nortje, Sh, El Mistiri, Mm, Bayo, S, Malle, B, Manraj, Ss, Sewpaul-sungkur, R, Fabowale, A, Ogunbiyi, Oj, Bradshaw, D, Somdyala, Nim, Stefan, Dc, Abdel-rahman, M, Jaidane, L, Mokni, M, Kumcher, I, Moreno, F, González, Ms, Laura, Ea, Espinola, Sb, Calabrano, Gh, Carballo Quintero, B, Fita, R, Garcilazo, Da, Giacciani, Pl, Diumenjo, Mc, Laspada, Wd, Green, Ma, Lanza, Mf, Ibañez, Sg, Lima, Ca, Lobo De Oliveira, E, Daniel, C, Scandiuzzi, C, De Souza, Pcf, Melo, Cd, Del Pino, K, Laporte, C, Curado, Mp, De Oliveira, Jc, Veneziano, Cla, Veneziano, Db, Latorre, Mrdo, Tanaka, Lf, Azevedo E. Silva, G, Galaz, Jc, Moya, Ja, Herrmann, Da, Vargas, S, Herrera, Vm, Uribe, Cj, Bravo, Le, Arias-ortiz, Ne, Jurado, Dm, Yépez, Mc, Galán, Yh, Torres, P, Martínez-reyes, F, Pérez-meza, Ml, Jaramillo, L, Quinto, R, Cueva, P, Yépez, Jg, Torres-cintrón, Cr, Tortolero-luna, G, Alonso, R, Barrios, E, Nikiforuk, C, Shack, L, Coldman, Aj, Woods, Rr, Noonan, G, Turner, D, Kumar, E, Zhang, B, Mccrate, Fr, Ryan, S, Hannah, H, Dewar, Rad, Macintyre, M, Lalany, A, Ruta, M, Marrett, L, Nishri, De, Mcclure, C, Vriends, Ka, Bertrand, C, Louchini, R, Robb, K, Stuart-panko, H, Demers, S, Wright, S, George, Jt, Shen, X, Brockhouse, Jt, O'brien, Dk, Ward, Kc, Almon, L, Bates, J, Rycroft, R, Mueller, L, Phillips, C, Brown, H, Cromartie, B, Schwartz, Ag, Vigneau, F, Mackinnon, Ja, Wohler, B, Bayakly, Ar, Clarke, Ca, Glaser, Sl, West, D, Green, Md, Hernandez, By, Johnson, Cj, Jozwik, D, Charlton, Me, Lynch, Cf, Huang, B, Tucker, Tc, Deapen, D, Liu, L, Hsieh, Mc, Wu, Xc, Stern, K, Gershman, St, Knowlton, Rc, Alverson, J, Copeland, Ge, Rogers, Db, Lemons, D, Williamson, Ll, Hood, M, Hosain, Gm, Rees, Jr, Pawlish, Ks, Stroup, A, Key, C, Wiggins, C, Kahn, Ar, Schymura, Mj, Leung, G, Rao, C, Giljahn, L, Warther, B, Pate, A, Patil, M, Schubert, Ss, Rubertone, Jj, Slack, Sj, Fulton, Jp, Rousseau, Dl, Janes, Ta: Schwartz, Bolick, Sw, Hurley, Dm, Richards, J, Whiteside, Ma, Nogueira, Lm, Herget, K, Sweeney, C, Martin, J, Wang, S, Harrelson, Dg, Keitheri Cheteri, Mb, Farley, S, Hudson, Ag, Borchers, R, Stephenson, L, Espinoza, Jr, Weir, Hk, Edwards, Bk, Wang, N, Yang, L, Chen, Js, Song, Gh, Gu, Xp, Zhang, P, Ge, Hm, Zhao, Dl, Zhang, Jh, Zhu, Fd, Tang, Jg, Shen, Y, Wang, J, Li, Ql, Yang, Xp, Dong, J, Li, W, Cheng, Lp, Chen, Jg, Huang, Qh, Huang, Sq, Guo, Gp, Wei, K, Chen, Wq, Zeng, H, Demetriou, Av, Pavlou, P, Mang, Wk, Ngan, Kc, Kataki, Ac, Krishnatreya, M, Jayalekshmi, Pa, Sebastian, P, Sapkota, Sd, Verma, Y, Nandakumar, A, Suzanna, E, Keinan-boker, L, Silverman, Bg, Ito, H, Nakagawa, H, Hattori, M, Kaizaki, Y, Sugiyama, H, Utada, M, Katayama, K, Narimatsu, H, Kanemura, S, Koike, T, Miyashiro, I, Yoshii, M, Oki, I, Shibata, A, Matsuda, T, Nimri, O, Ab Manan, A, Bhoo-pathy, N, Tuvshingerel, S, Chimedsuren, O, Al Khater, Ahm, Al-eid, H, Jung, Kw, Won, Yj, Chiang, Cj, Lai, Ms, Suwanrungruang, K, Wiangnon, S, Daoprasert, K, Pongnikorn, D, Geater, Sl, Sriplung, H, Eser, S, Yakut, Ci, Hackl, M, Mühlböck, H, Oberaigner, W, Zborovskaya, Aa, Aleinikova, Ov, Henau, K, Van Eycken, L, Dimitrova, N, Valerianova, Z, Šekerija, M, Zvolský, M, Engholm, G, Storm, H, Innos, K, Mägi, M, Malila, N, Seppä, K, Jégu, J, Velten, M, Cornet, E, Troussard, X, Bouvier, Am, Faivre, J, Guizard, Av, Bouvier, V, Launoy, G, Arveux, P, Maynadié, M, Mounier, M, Fournier, E, Woronoff, As, Daoulas, M, Clavel, J, Le Guyader-peyrou, S, Monnereau, A, Trétarre, B, Colonna, M, Cowppli-bony, A, Molinié, F, Bara, S, Degré, D, Ganry, O, Lapôtre-ledoux, B, Grosclaude, P, Estève, J, Bray, F, Piñeros, M, Sassi, F, Stabenow, R, Eberle, A, Erb, C, Nennecke, A, Kieschke, J, Sirri, E, Kajueter, H, Emrich, K, Zeissig, Sr, Holleczek, B, Eisemann, N, Katalinic, A, Brenner, H, Asquez, Ra, Kumar, V, Ólafsdóttir, Ej, Tryggvadóttir, L, Comber, H, Walsh, Pm, Sundseth, H, Devigili, E, Mazzoleni, G, Giacomin, A, Bella, F, Castaing, M, Sutera, A, Gola, G, Ferretti, S, Serraino, D, Zucchetto, A, Lillini, R, Vercelli, M, Busco, S, Pannozzo, F, Vitarelli, S, Ricci, P, Pascucci, C, Autelitano, M, Cirilli, C, Federico, M, Fusco, M, Vitale, Mf, Usala, M, Cusimano, R, Mazzucco, W, Michiara, M, Sgargi, P, Maule, Mm, Sacerdote, C, Tumino, R, Di Felice, E, Vicentini, M, Falcini, F, Cremone, L, Budroni, M, Cesaraccio, R, Contrino, Ml, Tisano, F, Fanetti, Ac, Maspero, S, Candela, G, Scuderi, T, Gentilini, Ma, Piffer, S, Rosso, S, Sacchetto, L, Caldarella, A, La Rosa, F, Stracci, F, Contiero, P, Tagliabue, G, Dei Tos, Ap, Zorzi, M, Zanetti, R, Baili, P, Berrino, F, Gatta, G, Sant, M, Capocaccia, R, De Angelis, R, Liepina, E, Maurina, A, Smailyte, G, Agius, D, Calleja, N, Siesling, S, Visser, O, Larønningen, S, Møller, B, Dyzmann-sroka, A, Trojanowski, M, Góźdż, S, Mężyk, R, Grądalska-lampart, M, Radziszewska, Au, Didkowska, Ja, Wojciechowska, U, Błaszczyk, J, Kępska, K, Bielska-lasota, M, Kwiatkowska, K, Forjaz, G, Rego, Ra, Bastos, J, Silva, Ma, Antunes, L, Bento, Mj, Mayer-da-silva, A, Miranda, A, Coza, D, Todescu, Ai, Valkov, My, Adamcik, J, Safaei Diba, C, Primic-žakelj, M, Žagar, T, Stare, J, Almar, E, Mateos, A, Quirós, Jr, Bidaurrazaga, J, Larrañaga, N, Díaz García, Jm, Marcos, Ai, Marcos-gragera, R, Vilardell Gil, Ml, Molina, E, Sánchez, Mj, Franch Sureda, P, Ramos Montserrat, M, Chirlaque, Md, Navarro, C, Ardanaz, Ee, Moreno-iribas, Cc, Fernández-delgado, R, Peris-bonet, R, Galceran, J, Khan, S, Lambe, M, Camey, B, Bouchardy, C, Usel, M, Ess, Sm, Herrmann, C, Bulliard, Jl, Maspoli-conconi, M, Frick, H, Kuehni, Ce, Schindler, M, Bordoni, A, Spitale, A, Chiolero, A, Konzelmann, I, Dehler, Si, Matthes, Kl, Rashbass, J, Stiller, Ca, Fitzpatrick, D, Gavin, A, Bannon, F, Black, Rj, Brewster, Dh, Huws, Dw, White, C, Finan, P, Allemani, C, Bonaventure, A, Carreira, H, Coleman, Mp, Di Carlo, V, Harewood, R, Liu, K, Matz, M, Montel, L, Nikšić, M, Rachet, B, Sanz, N, Spika, D, Stephens, R, Peake, M, Chalker, E, Newman, L, Baker, D, Soeberg, Mj, Aitken, J, Scott, C, Stokes, Bc, Venn, A, Farrugia, H, Giles, Gg, Threlfall, T, Currow, D, You, H, Hendrix, J, Lewis, C., Matz, M., Coleman, M., Carreira, H., Salmerã³n, D., Chirlaque, M., Allemani, C., Bouzbid, S., Hamdi-chérif, M., Zaidi, Z., Bah, E., Swaminathan, R., Nortje, S., El Mistiri, M., Bayo, S., Malle, B., Manraj, S., Sewpaul-sungkur, R., Fabowale, A., Ogunbiyi, O., Bradshaw, D., Somdyala, N., Stefan, D., Abdel-rahman, M., Jaidane, L., Mokni, M., Kumcher, I., Moreno, F., González, M., Laura, E., Espinola, S., Calabrano, G., Carballo Quintero, B., Fita, R., Garcilazo, D., Giacciani, P., Diumenjo, M., Laspada, W., Green, M., Lanza, M., Ibañez, S., Lima, C., Lobo De Oliveira, E., Daniel, C., Scandiuzzi, C., De Souza, P., Melo, C., Del Pino, K., Laporte, C., Curado, M., De Oliveira, J., Veneziano, C., Veneziano, D., Latorre, M., Tanaka, L., Azevedo E. Silva, G., Galaz, J., Moya, J., Herrmann, D., Vargas, S., Herrera, V., Uribe, C., Bravo, L., Arias-ortiz, N., Jurado, D., Yépez, M., Galán, Y., Torres, P., Martínez-reyes, F., Pérez-meza, M., Jaramillo, L., Quinto, R., Cueva, P., Yépez, J., Torres-cintrón, C., Tortolero-luna, G., Alonso, R., Barrios, E., Nikiforuk, C., Shack, L., Coldman, A., Woods, R., Noonan, G., Turner, D., Kumar, E., Zhang, B., Mccrate, F., Ryan, S., Hannah, H., Dewar, R., Macintyre, M., Lalany, A., Ruta, M., Marrett, L., Nishri, D., Mcclure, C., Vriends, K., Bertrand, C., Louchini, R., Robb, K., Stuart-panko, H., Demers, S., Wright, S., George, J., Shen, X., Brockhouse, J., O'Brien, D., Ward, K., Almon, L., Bates, J., Rycroft, R., Mueller, L., Phillips, C., Brown, H., Cromartie, B., Schwartz, A., Vigneau, F., Mackinnon, J., Wohler, B., Bayakly, A., Clarke, C., Glaser, S., West, D., Hernandez, B., Johnson, C., Jozwik, D., Charlton, M., Lynch, C., Huang, B., Tucker, T., Deapen, D., Liu, L., Hsieh, M., Xc, W., Stern, K., Gershman, S., Knowlton, R., Alverson, J., Copeland, G., Rogers, D., Lemons, D., Williamson, L., Hood, M., Hosain, G., Rees, J., Pawlish, K., Stroup, A., Key, C., Wiggins, C., Kahn, A., Schymura, M., Leung, G., Rao, C., Giljahn, L., Warther, B., Pate, A., Patil, M., Schubert, S., Rubertone, J., Slack, S., Fulton, J., Rousseau, D., Janes, Ta:, S., Sm, Bolick, S., Hurley, D., Richards, J., Whiteside, M., Nogueira, L., Herget, K., Sweeney, C., Martin, J., Wang, S., Harrelson, D., Keitheri Cheteri, M., Farley, S., Hudson, A., Borchers, R., Stephenson, L., Espinoza, J., Weir, H., Edwards, B., Wang, N., Yang, L., Chen, J., Song, G., Xp, G., Zhang, P., Hm, G., Zhao, D., Zhang, J., Zhu, F., Tang, J., Shen, Y., Wang, J., Ql, L., Yang, X., Dong, J., Li, W., Cheng, L., Huang, Q., Huang, S., Guo, G., Wei, K., Chen, W., Zeng, H., Demetriou, A., Pavlou, P., Mang, W., Ngan, K., Kataki, A., Krishnatreya, M., Jayalekshmi, P., Sebastian, P., Sapkota, S., Verma, Y., Nandakumar, A., Suzanna, E., Keinan-boker, L., Silverman, B., Ito, H., Nakagawa, H., Hattori, M., Kaizaki, Y., Sugiyama, H., Utada, M., Katayama, K., Narimatsu, H., Kanemura, S., Koike, T., Miyashiro, I., Yoshii, M., Oki, I., Shibata, A., Matsuda, T., Nimri, O., Ab Manan, A., Bhoo-pathy, N., Tuvshingerel, S., Chimedsuren, O., Al Khater, A., Al-eid, H., Jung, K., Won, Y., Chiang, C., Lai, M., Suwanrungruang, K., Wiangnon, S., Daoprasert, K., Pongnikorn, D., Geater, S., Sriplung, H., Eser, S., Yakut, C., Hackl, M., Mühlböck, H., Oberaigner, W., Zborovskaya, A., Aleinikova, O., Henau, K., Van Eycken, L., Dimitrova, N., Valerianova, Z., Šekerija, M., Zvolský, M., Engholm, G., Storm, H., Innos, K., Mägi, M., Malila, N., Seppä, K., Jégu, J., Velten, M., Cornet, E., Troussard, X., Bouvier, A., Faivre, J., Guizard, A., Bouvier, V., Launoy, G., Arveux, P., Maynadié, M., Mounier, M., Fournier, E., Woronoff, A., Daoulas, M., Clavel, J., Le Guyader-peyrou, S., Monnereau, A., Trétarre, B., Colonna, M., Cowppli-bony, A., Molinié, F., Bara, S., Degré, D., Ganry, O., Lapôtre-ledoux, B., Grosclaude, P., Estève, J., Bray, F., Piñeros, M., Sassi, F., Stabenow, R., Eberle, A., Erb, C., Nennecke, A., Kieschke, J., Sirri, E., Kajueter, H., Emrich, K., Zeissig, S., Holleczek, B., Eisemann, N., Katalinic, A., Brenner, H., Asquez, R., Kumar, V., Ólafsdóttir, E., Tryggvadóttir, L., Comber, H., Walsh, P., Sundseth, H., Devigili, E., Mazzoleni, G., Giacomin, A., Bella, F., Castaing, M., Sutera, A., Gola, G., Ferretti, S., Serraino, D., Zucchetto, A., Lillini, R., Vercelli, M., Busco, S., Pannozzo, F., Vitarelli, S., Ricci, P., Pascucci, C., Autelitano, M., Cirilli, C., Federico, M., Fusco, M., Vitale, M., Usala, M., Cusimano, R., Mazzucco, W., Michiara, M., Sgargi, P., Maule, M., Sacerdote, C., Tumino, R., Di Felice, E., Vicentini, M., Falcini, F., Cremone, L., Budroni, M., Cesaraccio, R., Contrino, M., Tisano, F., Fanetti, A., Maspero, S., Candela, G., Scuderi, T., Gentilini, M., Piffer, S., Rosso, S., Sacchetto, L., Caldarella, A., La Rosa, F., Stracci, F., Contiero, P., Tagliabue, G., Dei Tos, A., Zorzi, M., Zanetti, R., Baili, P., Berrino, F., Gatta, G., Sant, M., Capocaccia, R., De Angelis, R., Liepina, E., Maurina, A., Smailyte, G., Agius, D., Calleja, N., Siesling, S., Visser, O., Larønningen, S., Møller, B., Dyzmann-sroka, A., Trojanowski, M., Góźdż, S., Mężyk, R., Grądalska-lampart, M., Radziszewska, A., Didkowska, J., Wojciechowska, U., Błaszczyk, J., Kępska, K., Bielska-lasota, M., Kwiatkowska, K., Forjaz, G., Rego, R., Bastos, J., Silva, M., Antunes, L., Bento, M., Mayer-da-silva, A., Miranda, A., Coza, D., Todescu, A., Valkov, M., Adamcik, J., Safaei Diba, C., Primic-žakelj, M., Žagar, T., Stare, J., Almar, E., Mateos, A., Quirós, J., Bidaurrazaga, J., Larrañaga, N., Díaz García, J., Marcos, A., Marcos-gragera, R., Vilardell Gil, M., Molina, E., Sánchez, M., Franch Sureda, P., Ramos Montserrat, M., Navarro, C., Ardanaz, E., Moreno-iribas, C., Fernández-delgado, R., Peris-bonet, R., Galceran, J., Khan, S., Lambe, M., Camey, B., Bouchardy, C., Usel, M., Ess, S., Herrmann, C., Bulliard, J., Maspoli-conconi, M., Frick, H., Kuehni, C., Schindler, M., Bordoni, A., Spitale, A., Chiolero, A., Konzelmann, I., Dehler, S., Matthes, K., Rashbass, J., Stiller, C., Fitzpatrick, D., Gavin, A., Bannon, F., Black, R., Brewster, D., Huws, D., White, C., Finan, P., Bonaventure, A., Di Carlo, V., Harewood, R., Liu, K., Montel, L., Nikšić, M., Rachet, B., Sanz, N., Spika, D., Stephens, R., Peake, M., Chalker, E., Newman, L., Baker, D., Soeberg, M., Aitken, J., Scott, C., Stokes, B., Venn, A., Farrugia, H., Giles, G., Threlfall, T., Currow, D., You, H., Hendrix, J., and Lewis, C.

Subjects
0301 basic medicine, Gynecology, medicine.medical_specialty, business.industry, Published Erratum, Obstetrics and Gynecology, Library science, Settore MED/42 - Igiene Generale E Applicata, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Oncology, Editorial team, 030220 oncology & carcinogenesis, medicine, business, Stage at diagnosis
Abstract

Objective. Ovarian cancer comprises several histological groups with widely differing levels of survival. We aimed to explore international variation in survival for each group to help interpret international differences in survival from all ovarian cancers combined. We also examined differences in stage-specific survival. Methods. The CONCORD programme is the largest population-based study of global trends in cancer survival, including data from 60 countries for 695,932 women (aged 15–99 years) diagnosed with ovarian cancer during 1995–2009. We defined six histological groups: type I epithelial, type II epithelial, germ cell, sex cord-stromal, other specific non-epithelial and non-specific morphology, and estimated age-standardised 5-year net survival for each country by histological group. We also analysed data from67 cancer registries for 233,659 women diagnosed from 2001 to 2009, for whom information on stage at diagnosis was available. We estimated agestandardised 5-year net survival by stage at diagnosis (localised or advanced). Results. Survival fromtype I epithelial ovarian tumours for women diagnosed during 2005–09 ranged from40 to 70%. Survival from type II epithelial tumours was much lower (20–45%). Survival fromgermcell tumours was higher than that of type II epithelial tumours, but also varied widely between countries. Survival for sex-cord stromal tumours was higher than for the five other groups. Survival from localised tumours was much higher than for advanced disease (80% vs. 30%). Conclusions. There is wide variation in survival between histological groups, and stage at diagnosis remains an important factor in ovarian cancer survival. International comparisons of ovarian cancer survival should incorporate histology.

Published
2017

16. Safety insights from forensics evaluations at Daiichi

Author

Rempe, J., primary, Corradini, M., additional, Farmer, M., additional, Gabor, J., additional, Gauntt, R., additional, Hara, T., additional, Luangdilok, W., additional, Lutz, R., additional, Luxat, D., additional, Mizokami, S., additional, Plys, M., additional, Robb, K., additional, Tateiwa, K., additional, and Yamanaka, Y., additional

Published
2017
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21. 3-D Medipix: A new generation of X-ray detectors

Author

Wright, V.A., primary, Davidson, W.D., additional, Melone, J.J., additional, O’Shea, V., additional, Smith, K.M., additional, Donnohue, L., additional, Lea, L., additional, Robb, K., additional, Nenonen, S., additional, and Silpila, H., additional

Published
2005
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