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1. AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.

Author

Dowling, James, Pirovolakis, Terry, Devakandan, Keshini, Stosic, Ana, Pidsadny, Mia, Nigro, Elisa, Sahin, Mustafa, Ebrahimi-Fakhari, Darius, Messahel, Souad, Varadarajan, Ganapathy, Greenberg, Barry, Chen, Xin, Minassian, Berge, Cohn, Ronald, Bonnemann, Carsten, and Gray, Steven

Subjects
Humans, Dependovirus, Spastic Paraplegia, Hereditary, Genetic Therapy, Child, Preschool, Male, Genetic Vectors, Treatment Outcome
Abstract

There are more than 10,000 individual rare diseases and most are without therapy. Personalized genetic therapy represents one promising approach for their treatment. We present a road map for individualized treatment of an ultra-rare disease by establishing a gene replacement therapy developed for a single patient with hereditary spastic paraplegia type 50 (SPG50). Through a multicenter collaboration, an adeno-associated virus-based gene therapy product carrying the AP4M1 gene was created and successfully administered intrathecally to a 4-year-old patient within 3 years of diagnosis as part of a single-patient phase 1 trial. Primary endpoints were safety and tolerability, and secondary endpoints evaluated efficacy. At 12 months after dosing, the therapy was well tolerated. No serious adverse events were observed, with minor events, including transient neutropenia and Clostridioides difficile gastroenteritis, experienced but resolved. Preliminary efficacy measures suggest a stabilization of the disease course. Longer follow-up is needed to confirm the safety and provide additional insights on the efficacy of the therapy. Overall, this report supports the safety of gene therapy for SPG50 and provides insights into precision therapy development for rare diseases. Clinical trial registration: NCT06069687 .

Published
2024

4. Genetics providers’ perspectives on the use of digital tools in clinical practice

Author

Bombard, Yvonne, Hayeems, Robin Z., Aronson, Melyssa, Bernier, Francois, Brudno, Michael, Carroll, June C., Chad, Lauren, Clausen, Marc, Cohn, Ronald, Costain, Gregory, Dhalla, Irfan, Faghfoury, Hanna, Friedman, Jan, Hewson, Stacy, Jamieson, Trevor, Jobling, Rebekah, Kodida, Rita, Laberge, Anne-Marie, Lerner-Ellis, Jordan, Liston, Eriskay, Luca, Stephanie, Mamdani, Muhammad, Marshall, Christian R., Osmond, Matthew, Pham, Quynh, Reble, Emma, Rudzicz, Frank, Seto, Emily, Shastri-Estrada, Serena, Shuman, Cheryl, Silver, Josh, Smith, Maureen, Thorpe, Kevin, Ungar, Wendy J., Lee, Whiwon, Hirjikaka, Daena, Grewal, Sonya, and Shaw, Angela

Published
2024
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5. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Author

Boycott, Kym, Brudno, Michael, Bernier, Francois, van Karnebeek, Clara, Dyment, David, Kernohan, Kristin, Innes, Micheil, Lamont, Ryan, Parboosingh, Jillian, Marshall, Deborah, Marshall, Christian, Mendoza, Roberto, Dowling, James, Hayeems, Robin, Knoppers, Bartha, Lehman, Anna, Mostafavi, Sara, Hartley, Taila, Acker, Meryl, Fooks, Katharine, Gillespie, Meredith K., Price, E. Magda, Graham, Ian D., White-Brown, Alexandre, MacKay, Layla, Macdonald, Stella K., Brady, Lauren, Hui, Angela Y., Andrews, Joseph D., Chowdhury, Ashfia, Wall, Erika, Soubry, Élisabeth, Ediae, Grace U., Rojas, Samantha, Assamad, Daniel, Tarnopolsky, Mark, Sawyer, Sarah L., Chisholm, Caitlin, Lemire, Gabrielle, Amburgey, Kimberly, Lazier, Joanna, Mendoza-Londono, Roberto, Dowling, James J., Balci, Tugce B., Armour, Christine M., Bhola, Priya T., Costain, Gregory, Dupuis, Lucie, Carter, Melissa, Badalato, Lauren, Richer, Julie, Boswell-Patterson, Christie, Kannu, Peter, Cordeiro, Dawn, Warman-Chardon, Jodi, Graham, Gail, Siu, Victoria Mok, Cytrynbaum, Cheryl, Rusnak, Alison, Aul, Ritu B., Yoon, Grace, Gonorazky, Hernan, McNiven, Vanda, Mercimek-Andrews, Saadet, Guerin, Andrea, Deshwar, Ashish R., Marwaha, Ashish, Weksberg, Rosanna, Karp, Natalya, Campbell, Maggie, Al-Qattan, Sarah, Shuen, Andrew Y., Inbar-Feigenberg, Michal, Cohn, Ronald, Szuto, Anna, Inglese, Cara, Poirier, Myriam, Chad, Lauren, Potter, Beth, and Boycott, Kym M.

Published
2024
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7. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Author

Rots, Dmitrijs, Chater-Diehl, Eric, Dingemans, Alexander JM, Goodman, Sarah J, Siu, Michelle T, Cytrynbaum, Cheryl, Choufani, Sanaa, Hoang, Ny, Walker, Susan, Awamleh, Zain, Charkow, Joshua, Meyn, Stephen, Pfundt, Rolph, Rinne, Tuula, Gardeitchik, Thatjana, de Vries, Bert BA, Deden, A Chantal, Leenders, Erika, Kwint, Michael, Stumpel, Constance TRM, Stevens, Servi JC, Vermeulen, Jeroen R, van Harssel, Jeske VT, Bosch, Danielle GM, van Gassen, Koen LI, van Binsbergen, Ellen, de Geus, Christa M, Brackel, Hein, Hempel, Maja, Lessel, Davor, Denecke, Jonas, Slavotinek, Anne, Strober, Jonathan, Crunk, Amy, Folk, Leandra, Wentzensen, Ingrid M, Yang, Hui, Zou, Fanggeng, Millan, Francisca, Person, Richard, Xie, Yili, Liu, Shuxi, Ousager, Lilian B, Larsen, Martin, Schultz-Rogers, Laura, Morava, Eva, Klee, Eric W, Berry, Ian R, Campbell, Jennifer, Lindstrom, Kristin, Pruniski, Brianna, Neumeyer, Ann M, Radley, Jessica A, Phornphutkul, Chanika, Schmidt, Berkley, Wilson, William G, Õunap, Katrin, Reinson, Karit, Pajusalu, Sander, van Haeringen, Arie, Ruivenkamp, Claudia, Cuperus, Roos, Santos-Simarro, Fernando, Palomares-Bralo, María, Pacio-Míguez, Marta, Ritter, Alyssa, Bhoj, Elizabeth, Tønne, Elin, Tveten, Kristian, Cappuccio, Gerarda, Brunetti-Pierri, Nicola, Rowe, Leah, Bunn, Jason, Saenz, Margarita, Platzer, Konrad, Mertens, Mareike, Caluseriu, Oana, Nowaczyk, Małgorzata JM, Cohn, Ronald D, Kannu, Peter, Alkhunaizi, Ebba, Chitayat, David, Scherer, Stephen W, Brunner, Han G, Vissers, Lisenka ELM, Kleefstra, Tjitske, Koolen, David A, and Weksberg, Rosanna

Subjects
Genetics, Clinical Research, Brain Disorders, Mental Health, Intellectual and Developmental Disabilities (IDD), Aetiology, 2.1 Biological and endogenous factors, Abnormalities, Multiple, Adenosine Triphosphatases, Case-Control Studies, Cohort Studies, Craniofacial Abnormalities, DNA Methylation, Epigenesis, Genetic, Female, Genetic Predisposition to Disease, Growth Disorders, Heart Septal Defects, Ventricular, Humans, Infant, Newborn, Male, Mutation, Neurodevelopmental Disorders, Phenotype, DNA methylation signature, Floating-Harbor syndrome, SRCAP, epigenomics, genotype-phenotype correlation, intellectual disability, neurodevelopmental disorders, non-FLHS SRCAP-related NDD, nonsense-mediated decay, speech delay, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants either proximal (n = 28) or distal (n = 5) to the FLHS locus. Detailed clinical characterization of the proximal SRCAP individuals identified shared characteristics: developmental delay with or without intellectual disability, behavioral and psychiatric problems, non-specific facial features, musculoskeletal issues, and hypotonia. Because FLHS is known to be associated with a unique set of DNA methylation (DNAm) changes in blood, a DNAm signature, we investigated whether there was a distinct signature associated with our affected individuals. A machine-learning model, based on the FLHS DNAm signature, negatively classified all our tested subjects. Comparing proximal variants with typically developing controls, we identified a DNAm signature distinct from the FLHS signature. Based on the DNAm and clinical data, we refer to the condition as "non-FLHS SRCAP-related NDD." All five distal variants classified negatively using the FLHS DNAm model while two classified positively using the proximal model. This suggests divergent pathogenicity of these variants, though clinically the distal group presented with NDD, similar to the proximal SRCAP group. In summary, for SRCAP, there is a clear relationship between variant location, DNAm profile, and clinical phenotype. These results highlight the power of combined epigenetic, molecular, and clinical studies to identify and characterize genotype-epigenotype-phenotype correlations.

Published
2021

9. The Deep Genome Project

Author

Lloyd, KC Kent, Adams, David J, Baynam, Gareth, Beaudet, Arthur L, Bosch, Fatima, Boycott, Kym M, Braun, Robert E, Caulfield, Mark, Cohn, Ronald, Dickinson, Mary E, Dobbie, Michael S, Flenniken, Ann M, Flicek, Paul, Galande, Sanjeev, Gao, Xiang, Grobler, Anne, Heaney, Jason D, Herault, Yann, de Angelis, Martin Hrabě, Lupski, James R, Lyonnet, Stanislas, Mallon, Ann-Marie, Mammano, Fabio, MacRae, Calum A, McInnes, Roderick, McKerlie, Colin, Meehan, Terrence F, Murray, Stephen A, Nutter, Lauryl MJ, Obata, Yuichi, Parkinson, Helen, Pepper, Michael S, Sedlacek, Radislav, Seong, Je Kyung, Shiroishi, Toshihiko, Smedley, Damian, Tocchini-Valentini, Glauco, Valle, David, Wang, Chi-Kuang Leo, Wells, Sara, White, Jacqueline, Wurst, Wolfgang, Xu, Ying, and Brown, Steve DM

Subjects
Animals, Genes, Genome, Humans, Mice, Mutation, Phenotype, Proteins, Environmental Sciences, Biological Sciences, Information and Computing Sciences, Bioinformatics
Published
2020

11. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study

Author

Hartley, Taila, primary, Marshall, Deborah, additional, Acker, Meryl, additional, Fooks, Katharine, additional, Gillespie, Meredith K., additional, Price, E. Magda, additional, Graham, Ian D., additional, White-Brown, Alexandre, additional, MacKay, Layla, additional, Macdonald, Stella K., additional, Brady, Lauren, additional, Hui, Angela Y., additional, Andrews, Joseph D., additional, Chowdhury, Ashfia, additional, Wall, Erika, additional, Soubry, Élisabeth, additional, Ediae, Grace U., additional, Rojas, Samantha, additional, Assamad, Daniel, additional, Dyment, David, additional, Tarnopolsky, Mark, additional, Sawyer, Sarah L., additional, Chisholm, Caitlin, additional, Lemire, Gabrielle, additional, Amburgey, Kimberly, additional, Lazier, Joanna, additional, Mendoza-Londono, Roberto, additional, Dowling, James J., additional, Balci, Tugce B., additional, Armour, Christine M., additional, Bhola, Priya T., additional, Costain, Gregory, additional, Dupuis, Lucie, additional, Carter, Melissa, additional, Badalato, Lauren, additional, Richer, Julie, additional, Boswell-Patterson, Christie, additional, Kannu, Peter, additional, Cordeiro, Dawn, additional, Warman-Chardon, Jodi, additional, Graham, Gail, additional, Siu, Victoria Mok, additional, Cytrynbaum, Cheryl, additional, Rusnak, Alison, additional, Aul, Ritu B., additional, Yoon, Grace, additional, Gonorazky, Hernan, additional, McNiven, Vanda, additional, Mercimek-Andrews, Saadet, additional, Guerin, Andrea, additional, Deshwar, Ashish R., additional, Marwaha, Ashish, additional, Weksberg, Rosanna, additional, Karp, Natalya, additional, Campbell, Maggie, additional, Al-Qattan, Sarah, additional, Shuen, Andrew Y., additional, Inbar-Feigenberg, Michal, additional, Cohn, Ronald, additional, Szuto, Anna, additional, Inglese, Cara, additional, Poirier, Myriam, additional, Chad, Lauren, additional, Potter, Beth, additional, Boycott, Kym M., additional, Hayeems, Robin, additional, Boycott, Kym, additional, Brudno, Michael, additional, Bernier, Francois, additional, van Karnebeek, Clara, additional, Kernohan, Kristin, additional, Innes, Micheil, additional, Lamont, Ryan, additional, Parboosingh, Jillian, additional, Marshall, Christian, additional, Mendoza, Roberto, additional, Dowling, James, additional, Knoppers, Bartha, additional, Lehman, Anna, additional, and Mostafavi, Sara, additional

Published
2024
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12. Sequencage du genome comme test diagnostique

Author

Costain, Gregory, Cohn, Ronald D., Scherer, Stephen W., and Marshall, Christian R.

Subjects
Genomics, Genomes -- Health aspects -- Care and treatment, Health
Abstract

On a de plus en plus recours aux analyses genetiques de l'ADN constitutif des patients (de leur genome) dans la pratique medicale (1-3). Sequencer le genome humain complet (environ 3,2 [...]

Published
2022
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13. Timing of Introduction to Solid Food, Growth, and Nutrition Risk in Later Childhood

Author

Cohn, Ronald, Lau, Eddy, Laupacis, Andreas, Parkin, Patricia C., Salter, Michael, Szatmari, Peter, Weir, Shannon, Anderson, Laura N., Borkhoff, Cornelia M., Kowal, Christine, Mason, Dalah, Abdurrahman, Murtala, Anderson, Kelly, Arbess, Gordon, Baker, Jillian, Barozzino, Tony, Bergeron, Sylvie, Bhagat, Dimple, Bloch, Gary, Bonifacio, Joey, Bowry, Ashna, Calpin, Caroline, Campbell, Douglas, Cheema, Sohail, Cheng, Elaine, Chisamore, Brian, Constantin, Evelyn, Danayan, Karoon, Das, Paul, Derocher, Mary Beth, Do, Anh, Doukas, Kathleen, Egger, Anne, Farber, Allison, Freedman, Amy, Freeman, Sloane, Gazeley, Sharon, Guiang, Charlie, Ha, Dan, Handford, Curtis, Hanson, Laura, Harrington, Leah, Jacobson, Sheila, Jagiello, Lukasz, Jansz, Gwen, Kadar, Paul, Kim, Florence, Kiran, Tara, Knowles, Holly, Kwok, Bruce, Lakhoo, Sheila, Lam-Antoniades, Margarita, Leduc, Denis, Leung, Fok-Han, Li, Alan, Li, Patricia, Malach, Jessica, Male, Roy, Mascoll, Vashti, Meret, Aleks, Mok, Elise, Moodie, Rosemary, Nader, Maya, Nash, Katherine, Naymark, Sharon, Owen, James, Peer, Michael, Pena, Kifi, Perlmutar, Marty, Persaud, Navindra, Pinto, Andrew, Porepa, Michelle, Qi, Vikky, Ramji, Nasreen, Ramji, Noor, Raza, Danyaal, Rosenthal, Alana, Rouleau, Katherine, Ruderman, Caroline, Saunderson, Janet, Schiralli, Vanna, Sgro, Michael, Shuja, Hafiz, Shepherd, Susan, Smiltnieks, Barbara, Srikanthan, Cinntha, Taylor, Carolyn, Treherne, Stephen, Turner, Suzanne, Uddin, Fatima, van den Heuvel, Meta, Vaughan, Joanne, Weisdorf, Thea, Wijayasinghe, Sheila, Wong, Peter, Yaremko, John, Ying, Ethel, Young, Elizabeth, Zajdman, Michael, Bazeghi, Farnaz, Bouchard, Vincent, Bustos, Marivic, Camacho, Charmaine, Dalwadi, Dharma, Koroshegyi, Christine, Malhi, Tarandeep, Thadani, Sharon, Thompson, Julia, Thompson, Laurie, Aglipay, Mary, Bayoumi, Imaan, Carsley, Sarah, Cost, Katherine, Eny, Karen, Kim, Theresa, Kinlin, Laura, Omand, Jessica, Vanderhout, Shelley, Vanderloo, Leigh, Allen, Christopher, Boodhoo, Bryan, Chan, Olivia, Dai, David W.H., Hall, Judith, Juni, Peter, Lebovic, Gerald, Pope, Karen, Thorpe, Kevin, Kandel, Rita, Rodrigues, Michelle, Vandenberghe, Hilde, D'Hollander, Curtis J., Keown-Stoneman, Charles D.G., Birken, Catherine S., O'Connor, Deborah L., and Maguire, Jonathon L.

Published
2021
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14. A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay

Author

Schoch, Kelly, Meng, Linyan, Szelinger, Szabolcs, Bearden, David R, Stray-Pedersen, Asbjorg, Busk, Oyvind L, Stong, Nicholas, Liston, Eriskay, Cohn, Ronald D, Scaglia, Fernando, Rosenfeld, Jill A, Tarpinian, Jennifer, Skraban, Cara M, Deardorff, Matthew A, Friedman, Jeremy N, Akdemir, Zeynep Coban, Walley, Nicole, Mikati, Mohamad A, Kranz, Peter G, Jasien, Joan, McConkie-Rosell, Allyn, McDonald, Marie, Wechsler, Stephanie Burns, Freemark, Michael, Kansagra, Sujay, Freedman, Sharon, Bali, Deeksha, Millan, Francisca, Bale, Sherri, Nelson, Stanley F, Lee, Hane, Dorrani, Naghmeh, Goldstein, David B, Xiao, Rui, Yang, Yaping, Posey, Jennifer E, Martinez-Agosto, Julian A, Lupski, James R, Wangler, Michael F, Shashi, Vandana, Grody, Wayne W, Strom, Samuel P, Vilain, Eric, Deignan, Joshua, Quintero-Rivera, Fabiola, Kantarci, Sibel, Mullegama, Sureni, Kang, Sung-Hae, Alejandro, Mercedes E, Bacino, Carlos A, Balasubramanyam, Ashok, Burrage, Lindsay C, Clark, Gary D, Craigen, William J, Dhar, Shweta U, Emrick, Lisa T, Graham, Brett H, Hanchard, Neil A, Jain, Mahim, Lalani, Seema R, Lee, Brendan H, Lewis, Richard A, Mashid, Azamian S, Moretti, Paolo M, Nicholas, Sarah K, Orange, Jordan S, Potocki, Lorraine, Scott, Daryl A, Tran, Alyssa A, Bellen, Hugo J, Yamamoto, Shinya, Eng, Christine M, Muzny, Donna M, Ward, Patricia A, Gropman, Andrea L, Jiang, Yong-hui, Pena, Loren DM, Spillmann, Rebecca C, Sullivan, Jennifer A, Walley, Nicole M, Beggs, Alan H, Briere, Lauren C, Cooper, Cynthia M, Donnell-Fink, Laurel A, Krieg, Elizabeth L, Krier, Joel B, and Lincoln, Sharyn A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Neurosciences, Pediatric, Brain Disorders, Neurodegenerative, Epilepsy, Intellectual and Developmental Disabilities (IDD), Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Alleles, Amino Acid Sequence, Brain, Cataract, Child, Child, Preschool, Female, Genetic Variation, Genome-Wide Association Study, Humans, Infant, Intellectual Disability, Magnetic Resonance Imaging, Male, Microcephaly, Mutation, Missense, Neoplasm Proteins, Pedigree, Phenotype, Repressor Proteins, Spasms, Infantile, UCLA Clinical Genomics Center, Undiagnosed Diseases Network, NACC1, cataracts, developmental/intellectual disabilities, epilepsy, irritability, microcephaly, stereotypy, whole-exome sequencing, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Whole-exome sequencing (WES) has increasingly enabled new pathogenic gene variant identification for undiagnosed neurodevelopmental disorders and provided insights into both gene function and disease biology. Here, we describe seven children with a neurodevelopmental disorder characterized by microcephaly, profound developmental delays and/or intellectual disability, cataracts, severe epilepsy including infantile spasms, irritability, failure to thrive, and stereotypic hand movements. Brain imaging in these individuals reveals delay in myelination and cerebral atrophy. We observe an identical recurrent de novo heterozygous c.892C>T (p.Arg298Trp) variant in the nucleus accumbens associated 1 (NACC1) gene in seven affected individuals. One of the seven individuals is mosaic for this variant. NACC1 encodes a transcriptional repressor implicated in gene expression and has not previously been associated with germline disorders. The probability of finding the same missense NACC1 variant by chance in 7 out of 17,228 individuals who underwent WES for diagnoses of neurodevelopmental phenotypes is extremely small and achieves genome-wide significance (p = 1.25 × 10-14). Selective constraint against missense variants in NACC1 makes this excess of an identical missense variant in all seven individuals more remarkable. Our findings are consistent with a germline recurrent mutational hotspot associated with an allele-specific neurodevelopmental phenotype in NACC1.

Published
2017

15. Genome sequencing as a diagnostic test

Author

Costain, Gregory, Cohn, Ronald D., Scherer, Stephen W., and Marshall, Christian R.

Subjects
Nucleotide sequencing -- Usage -- Health aspects, DNA sequencing -- Usage -- Health aspects, Genetic screening -- Methods, Health
Abstract

Genetic testing of patient constitutional DNA (i.e., their genome) is increasingly performed in medical practice. (1-3) Sequencing an entire human genome (about 3.2 billion nucleotides) is now possible to complete [...]

Published
2021
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16. Infection Prevention and Control Considerations for Schools during the 2022-2023 Academic Year

Author

Science, Michelle, primary, Thampi, Nisha, additional, Bitnun, Ari, additional, Born, Karen B., additional, Blackman, Nicole, additional, Cohen, Eyal, additional, Cohn, Ronald D., additional, Dubey, Vinita, additional, Gallagher-Mackay, Kelly, additional, Khan, Sarah, additional, Kim, JinHee, additional, Korczak, Daphne, additional, Leifso, Kirk, additional, MacDonald, Liane M., additional, McCready, Janine, additional, Morris, Andrew M., additional, Orkin, Julia, additional, Perkhun, Anna, additional, Pollitt, Krystal, additional, Razak, Fahad, additional, Samson, Lindy, additional, Schwartz, Brian, additional, Siegel, Jeffrey A., additional, Wakegijig, Annelind, additional, and Allen, Upton, additional

Published
2022
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17. Monogenic variants in dystonia: an exome-wide sequencing study

Author

Zech, Michael, Jech, Robert, Boesch, Sylvia, Škorvánek, Matej, Weber, Sandrina, Wagner, Matias, Zhao, Chen, Jochim, Angela, Necpál, Ján, Dincer, Yasemin, Vill, Katharina, Distelmaier, Felix, Stoklosa, Malgorzata, Krenn, Martin, Grunwald, Stephan, Bock-Bierbaum, Tobias, Fečíková, Anna, Havránková, Petra, Roth, Jan, Příhodová, Iva, Adamovičová, Miriam, Ulmanová, Olga, Bechyně, Karel, Danhofer, Pavlína, Veselý, Branislav, Haň, Vladimír, Pavelekova, Petra, Gdovinová, Zuzana, Mantel, Tobias, Meindl, Tobias, Sitzberger, Alexandra, Schröder, Sebastian, Blaschek, Astrid, Roser, Timo, Bonfert, Michaela V, Haberlandt, Edda, Plecko, Barbara, Leineweber, Birgit, Berweck, Steffen, Herberhold, Thomas, Langguth, Berthold, Švantnerová, Jana, Minár, Michal, Ramos-Rivera, Gonzalo Alonso, Wojcik, Monica H, Pajusalu, Sander, Õunap, Katrin, Schatz, Ulrich A, Pölsler, Laura, Milenkovic, Ivan, Laccone, Franco, Pilshofer, Veronika, Colombo, Roberto, Patzer, Steffi, Iuso, Arcangela, Vera, Julia, Troncoso, Monica, Fang, Fang, Prokisch, Holger, Wilbert, Friederike, Eckenweiler, Matthias, Graf, Elisabeth, Westphal, Dominik S, Riedhammer, Korbinian M, Brunet, Theresa, Alhaddad, Bader, Berutti, Riccardo, Strom, Tim M, Hecht, Martin, Baumann, Matthias, Wolf, Marc, Telegrafi, Aida, Person, Richard E, Zamora, Francisca Millan, Henderson, Lindsay B, Weise, David, Musacchio, Thomas, Volkmann, Jens, Szuto, Anna, Becker, Jessica, Cremer, Kirsten, Sycha, Thomas, Zimprich, Fritz, Kraus, Verena, Makowski, Christine, Gonzalez-Alegre, Pedro, Bardakjian, Tanya M, Ozelius, Laurie J, Vetro, Annalisa, Guerrini, Renzo, Maier, Esther, Borggraefe, Ingo, Kuster, Alice, Wortmann, Saskia B, Hackenberg, Annette, Steinfeld, Robert, Assmann, Birgit, Staufner, Christian, Opladen, Thomas, Růžička, Evžen, Cohn, Ronald D, Dyment, David, Chung, Wendy K, Engels, Hartmut, Ceballos-Baumann, Andres, Ploski, Rafal, Daumke, Oliver, Haslinger, Bernhard, Mall, Volker, Oexle, Konrad, and Winkelmann, Juliane

Published
2020
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18. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy

Author

del Caño-Ochoa, Francisco, Ng, Bobby G., Abedalthagafi, Malak, Almannai, Mohammed, Cohn, Ronald D., Costain, Gregory, Elpeleg, Orly, Houlden, Henry, Karimiani, Ehsan Ghayoor, Liu, Pengfei, Manzini, M. Chiara, Maroofian, Reza, Muriello, Michael, Al-Otaibi, Ali, Patel, Hema, Shimon, Edvardson, Sutton, V. Reid, Toosi, Mehran Beiraghi, Wolfe, Lynne A., Rosenfeld, Jill A., Freeze, Hudson H., and Ramón-Maiques, Santiago

Published
2020
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23. A Positive Association Between Dietary Intake of Higher Cow's Milk-Fat Percentage and Non−High-Density Lipoprotein Cholesterol in Young Children

Author

Birken, Catherine S., Maguire, Jonathon L., Cohn, Ronald, Lau, Eddy, Laupacis, Andreas, Parkin, Patricia C., Salter, Michael, Szatmari, Peter, Weir, Shannon, Anderson, Laura N., Borkhoff, Cornelia M., Keown-Stoneman, Charles, Kowal, Christine, Mason, Dalah, Abdurrahman, Murtala, Anderson, Kelly, Arbess, Gordon, Baker, Jillian, Barozzino, Tony, Bergeron, Sylvie, Bhagat, Dimple, Bloch, Gary, Bonifacio, Joey, Bowry, Ashna, Calpin, Caroline, Campbell, Douglas, Cheema, Sohail, Cheng, Elaine, Chisamore, Brian, Constantin, Evelyn, Danayan, Karoon, Das, Paul, Derocher, Mary Beth, Do, Anh, Doukas, Kathleen, Egger, Anne, Farber, Allison, Freedman, Amy, Freeman, Sloane, Gazeley, Sharon, Guiang, Charlie, Ha, Dan, Handford, Curtis, Hanson, Laura, Harrington, Leah, Jacobson, Sheila, Jagiello, Lukasz, Jansz, Gwen, Kadar, Paul, Kim, Florence, Kiran, Tara, Knowles, Holly, Kwok, Bruce, Lakhoo, Sheila, Lam-Antoniades, Margarita, Leduc, Denis, Leung, Fok-Han, Li, Alan, Li, Patricia, Malach, Jessica, Male, Roy, Mascoll, Vashti, Meret, Aleks, Mok, Elise, Moodie, Rosemary, Nader, Maya, Nash, Katherine, Naymark, Sharon, Owen, James, Peer, Michael, Pena, Kifi, Perlmutar, Marty, Persaud, Navindra, Pinto, Andrew, Porepa, Michelle, Qi, Vikky, Ramji, Nasreen, Ramji, Noor, Raza, Danyaal, Rosenthal, Alana, Rouleau, Katherine, Ruderman, Caroline, Saunderson, Janet, Schiralli, Vanna, Sgro, Michael, Shuja, Hafiz, Shepherd, Susan, Smiltnieks, Barbara, Srikanthan, Cinntha, Taylor, Carolyn, Treherne, Stephen, Turner, Suzanne, Uddin, Fatima, van den Heuvel, Meta, Vaughan, Joanne, Weisdorf, Thea, Wijayasinghe, Sheila, Wong, Peter, Yaremko, John, Ying, Ethel, Young, Elizabeth, Zajdman, Michael, Bazeghi, Farnaz, Bouchard, Vincent, Bustos, Marivic, Camacho, Charmaine, Dalwadi, Dharma, Koroshegyi, Christine, Malhi, Tarandeep, Thadani, Sharon, Thompson, Julia, Thompson, Laurie, Aglipay, Mary, Bayoumi, Imaan, Carsley, Sarah, Cost, Katherine, Eny, Karen, Kim, Theresa, Kinlin, Laura, Omand, Jessica, Vanderhout, Shelley, Vanderloo, Leigh, Allen, Christopher, Boodhoo, Bryan, Chan, Olivia, Dai, David W.H., Hall, Judith, Juni, Peter, Lebovic, Gerald, Pope, Karen, Thorpe, Kevin, Kandel, Rita, Rodrigues, Michelle, Vandenberghe, Hilde, Wong, Vincent C.H., Omand, Jessica A., and O'Connor, Deborah L.

Published
2019
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24. The Association between Early Childhood and Later Childhood Sugar-Containing Beverage Intake: A Prospective Cohort Study

Author

Ziesmann, Andrea, primary, Kiflen, Ruhi, primary, De Rubeis, Vanessa, primary, Smith, Brendan T., primary, L. Maguire, Jonathon, primary, Birken, Catherine S., primary, Anderson, Laura N., primary, Cohn, Ronald D., primary, Lau, Eddy, primary, Laupacis, Andreas, primary, C. Parkin, Patricia, primary, Salter, Michael, primary, Szatmari, Peter, primary, Weir, Shannon, primary, Borkhoff, Cornelia M., primary, Keown-Stoneman, Charles D.G., primary, Kowal, Christine, primary, Mason, Dalah, primary, Abdurrahman, Murtala, primary, Arbess, Gordon, primary, Barozzino, Tony, primary, Bergeron, Sylvie, primary, Bloch, Gary, primary, Bowry, Ashna, primary, Calpin, Caroline, primary, Cheema, Sohaila, primary, Chisamore, Brian, primary, Constantin, Evelyn, primary, Danayan, Karoon, primary, Das, Paul, primary, Derocher, Mary Beth, primary, Egger, Anne E., primary, Knowles, Holly, primary, Kwok, Bruce, primary, Lam-Antoniades, Margarita, primary, Male, Roy, primary, Mascoll, Vashti, primary, Mok, Elise, primary, Moodie, Rosemary, primary, Naymark, Sharon, primary, Owen, James, primary, Qi, Vikky, primary, Ramji, Nasreen, primary, Ramji, Noor, primary, Raza, Danyaal, primary, Ruderman, Caroline, primary, Schiralli, Vanna, primary, Sgro, Michael, primary, Smiltnieks, Barbara, primary, Treherne, Stephen, primary, Uddin, Fatima, primary, van den Heuvel, Meta, primary, Vaughan, Joanne, primary, Weisdorf, Thea, primary, Wijayasinghe, Sheila, primary, Wong, Peter, primary, Yaremko, John, primary, Ying, Ethel, primary, Young, Elizabeth, primary, Zajdman, Michael, primary, Bazeghi, Farnaz, primary, Bouchard, Vincent, primary, Bustos, Marivic, primary, Camacho, Charmaine, primary, Dalwadi, Dharma, primary, Koroshegyi, Christine, primary, Malhi, Tarandeep, primary, Thadani, Sharon, primary, Thompson, Julia, primary, Thompson, Laurie, primary, Aglipay, Mary, primary, Bayoumi, Imaan, primary, Carsley, Sarah, primary, Cost, Katherine, primary, Eny, Karen, primary, Kim, Theresa, primary, M. Kinlin, Laura, primary, Omand, Jessica, primary, Vanderhout, Shelley, primary, Vanderloo, Leigh, primary, Allen, Christopher, primary, Boodhoo, Bryan, primary, Chan, Olivia, primary, Dai, David W. H., primary, Hall, Judith, primary, Jüni, Peter, primary, Lebovic, Gerald, primary, Pope, Karen, primary, Thorpe, Kevin, primary, Kandel, Rita, primary, Rodrigues, Michelle, primary, and Vandenberghe, Hilde, primary

Published
2023
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25. School Operation for the 2021-2022 Academic Year in the Context of the COVID-19 Pandemic

Author

Science, Michelle, primary, Thampi, Nisha, additional, Bitnun, Ari, additional, Allen, Upton, additional, Birken, Catherine, additional, Blackman, Nicole, additional, Cohen, Eyal, additional, Dubey, Vinita, additional, Dye, Lesleigh, additional, Gallagher-Mackay, Kelly, additional, Greer, Amy, additional, Katz, Gabrielle M., additional, Khan, Sarah, additional, Kim, JinHee, additional, Korczak, Daphne, additional, Leifso, Kirk, additional, MacDonald, Liane M., additional, Maltsev, Antonina, additional, McCready, Janine, additional, Morris, Andrew M., additional, Murti, Michelle, additional, Mushquash, Christopher, additional, Perkhun, Anna, additional, Pollitt, Krystal, additional, Sander, Beate, additional, Schwartz, Brian, additional, Siegel, Jeffrey, additional, Srivastava, Prachi, additional, Stall, Nathan M., additional, Tuite, Ashleigh R., additional, Wakegijig, Annelind, additional, Whelan, Michael, additional, Cohn, Ronald, additional, Jüni, Peter, additional, and Barrett, Kali, additional

Published
2021
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26. Losartan, an AT1 Antagonist Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome

Author

Habashi, Jennifer P., Judge, Daniel P., Holm, Tammy M., Cohn, Ronald D., Loeys, Bart L., Cooper, Timothy K., Myers, Loretha, Klein, Erin C., Liu, Guosheng, Calvi, Carla, Podowski, Megan, Neptune, Enid R., Halushka, Marc K., Bedja, Djahida, Gabrielson, Kathleen, Rifkin, Daniel B., Carta, Luca, Ramirez, Francesco, Huso, David L., and Dietz, Harry C.

Published
2006

31. Brain development mutations in the β-tubulin TUBB result in defective ciliogenesis

Author

Mollica, Antonio, primary, Omer, Safia, additional, Evagelou, Sonia L., additional, Naumenko, Serhiy, additional, Li, Lu Yi, additional, Teeling, Aideen, additional, Lindsay, Kyle, additional, Erwood, Steven, additional, Vernon, Robert M., additional, Forman-Kay, Julie D., additional, Shroff, Manohar, additional, Harrison, Rene E., additional, Cohn, Ronald D., additional, and Ivakine, Evgueni A., additional

Published
2023
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35. Novel protein-truncating variants of a chromatin-modifying gene MSL2in syndromic neurodevelopmental disorders

Author

Lu, Xiaona, Ng, Kim, Pinto e Vairo, Filippo, Collins, James, Cohn, Ronald, Riley, Kacie, Agre, Katherine, Gavrilova, Ralitza, Klee, Eric W., Rosenfeld, Jill A., and Jiang, Yong-hui

Abstract

Numerous large scale genomic studies have uncovered rare but recurrent pathogenetic variants in a significant number of genes encoding epigenetic machinery in cases with neurodevelopmental disorders (NDD) especially autism spectrum disorder (ASD). These findings provide strong support for the functional importance of epigenetic regulators in neurodevelopment. After the clinical genomics evaluation of the patients using exome sequencing, we have identified, three novel protein-truncating variants (PTVs) in the MSL2gene (OMIM: 614802) which encodes a chromatin modifying enzyme. MSL2 modifies chromatin through both mono-ubiquitination of histone 2B on lysine 34 (K34) and acetylation of histone H4 on lysine 16 (K16). We reported first time the detailed clinical features associated with 3 MSL2PTVs. There are 15 PTVs (13 de novo) reported from the large genomics studies (12 cases) or ClinVar (3 cases) of NDD, ASD, and developmental disorders (DD) but the specific clinical features for these cases are not described. Taken together, our descriptions of dysmorphic face and other features support the causal role of MSL2in a likely syndromic neurodevelopmental disorder and add MSL2to a growing list of epigenetic genes implicated in ASD.

Published
2024
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37. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing

Author

Costain, Gregory, Jobling, Rebekah, Walker, Susan, Reuter, Miriam S., Snell, Meaghan, Bowdin, Sarah, Cohn, Ronald D., Dupuis, Lucie, Hewson, Stacy, Mercimek-Andrews, Saadet, Shuman, Cheryl, Sondheimer, Neal, Weksberg, Rosanna, Yoon, Grace, Meyn, M. Stephen, Stavropoulos, Dimitri J., Scherer, Stephen W., Mendoza-Londono, Roberto, and Marshall, Christian R.

Published
2018
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38. An efficient and cost-effective purification protocol for Staphylococcus aureus Cas9 nuclease

Author

Teng, Allen C.T., primary, Tavassoli, Marjan, additional, Shrestha, Suja, additional, Marks, Ryan M., additional, McFadden, Meghan J., additional, Evagelou, Sonia L., additional, Lindsay, Kyle, additional, Vandenbelt, Ava, additional, Li, Wenping, additional, Ivakine, Evgueni, additional, Cohn, Ronald, additional, Santerre, J. Paul, additional, and Gramolini, Anthony O., additional

Published
2023
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40. A Cas9-fusion proximity-based approach generates anIrak1-Mecp2tandem duplication mouse model for the study of MeCP2 duplication syndrome

Author

Maino, Eleonora, primary, Scott, Ori, additional, Rizvi, Samar Z., additional, Visuvanathan, Shagana, additional, Zablah, Youssif Ben, additional, Li, Hongbin, additional, Sengar, Ameet S., additional, Salter, Michael W., additional, Jia, Zhengping, additional, Rossant, Janet, additional, Cohn, Ronald D., additional, Gu, Bin, additional, and Ivakine, Evgueni A., additional

Published
2023
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43. jamaneurology_morton_2022_rv_220001_1646244188.29201.pdf

Author

Morton, Sarah U, Christodoulou, John, Costain, Gregory, Muntoni, Francesco, Wakeling, Emma, Wojcik, Monica, French, Courtney E., Szuto, Anna, Dowling, James J., D. Cohn, Ronald, Raymond, F. Lucy, T. Darras, Basil, A. Williams, David, Lunke, Sebastian, Stark, Zornitza, Rowitch, David H., and B. Agrawal, Pankaj

Subjects
Infant and child health, Neonatology
Abstract

IMPORTANCE Infants with hypotonia can present with a variety of potentially severe clinical signs and symptoms and often require invasive testing and multiple procedures. The wide range of clinical presentations and potential etiologies leaves diagnosis and prognosis uncertain, underscoring the need for rapid elucidation of the underlying genetic cause of disease. OBSERVATIONS The clinical application of exome sequencing or genome sequencing has dramatically improved the timely yield of diagnostic testing for neonatal hypotonia, with diagnostic rates of greater than 50% in academic neonatal intensive care units (NICUs) across Australia, Canada, the UK, and the US, which compose the International Precision Child Health Partnership (IPCHiP). A total of 74% (17 of 23) of patients had a change in clinical care in response to genetic diagnosis, including 2 patients who received targeted therapy. This narrative review discusses the common causes of neonatal hypotonia, the relative benefits and limitations of available testing modalities used in NICUs, and hypotonia management recommendations. CONCLUSIONS AND RELEVANCE This narrative review summarizes the causes of neonatal hypotonia and the benefits of prompt genetic diagnosis, including improved prognostication and identification of targeted treatments which can improve the short-term and long-term outcomes. Institutional resources can vary among different NICUs; as a result, consideration should be given to rule out a small number of relatively unique conditions for which rapid targeted genetic testing is available. Nevertheless, the consensus recommendation is to use rapid genome or exome sequencing as a first-line testing option for NICU patients with unexplained hypotonia. As part of the IPCHiP, this diagnostic experience will be collected in a central database with the goal of advancing knowledge of neonatal hypotonia and improving evidence-based practice.

Published
2023
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44. The Personal Genome Project Canada: findings from whole genome sequences of the inaugural 56 participants

Author

Reuter, Miriam S., Walker, Susan, Thiruvahindrapuram, Bhooma, Whitney, Joe, Cohn, Iris, Sondheimer, Neal, Yuen, Ryan K.C., Trost, Brett, Paton, Tara A., Pereira, Sergio L., Herbrick, Jo-Anne, Wintle, Richard F., Merico, Daniele, Howe, Jennifer, MacDonald, Jeffrey R., Lu, Chao, Nalpathamkalam, Thomas, Sung, Wilson W.L., Wang, Zhuozhi, Patel, Rohan V., Pellecchia, Giovanna, Wei, John, Strug, Lisa J., Bell, Sherilyn, Kellam, Barbara, Mahtani, Melanie M., Bassett, Anne S., Bombard, Yvonne, Weksberg, Rosanna, Shuman, Cheryl, Cohn, Ronald D., Stavropoulos, Dimitri J., Bowdin, Sarah, Hildebrandt, Matthew R., Wei, Wei, Romm, Asli, Pasceri, Peter, Ellis, James, Ray, Peter, Meyn, M. Stephen, Monfared, Nasim, Hosseini, S. Mohsen, Joseph-George, Ann M., Keeley, Fred W., Cook, Ryan A., Fiume, Marc, Lee, Hin C., Marshall, Christian R., Davies, Jill, Hazell, Allison, Buchanan, Janet A., Szego, Michael J., and Scherer, Stephen W.

Subjects
Health policy -- Analysis, DNA sequencing -- Analysis, Pharmacogenomics -- Analysis, Health
Abstract

BACKGROUND: The Personal Genome Project Canada is a comprehensive public data resource that integrates whole genome sequencing data and health information. We describe genomic variation identified in the initial recruitment cohort of 56 volunteers. METHODS: Volunteers were screened for eligibility and provided informed consent for open data sharing. Using blood DNA, we performed whole genome sequencing and identified all possible classes of DNA variants. A genetic counsellor explained the implication of the results to each participant. RESULTS: Whole genome sequencing of the first 56 participants identified 207662 805 sequence variants and 27494 copy number variations. We analyzed a prioritized disease-associated data set (n = 1606 variants) according to standardized guidelines, and interpreted 19 variants in 14 participants (25%) as having obvious health implications. Six of these variants (e.g., in BRCA1 or mosaic loss of an X chromosome) were pathogenic or likely pathogenic. Seven were risk factors for cancer, cardiovascular or neurobehavioural conditions. Four other variants--associated with cancer, cardiac or neurodegenerative phenotypes--remained of uncertain significance because of discrepancies among databases. We also identified a large structural chromosome aberration and a likely pathogenic mitochondrial variant. There were 172 recessive disease alleles (e.g., 5 individuals carried mutations for cystic fibrosis). Pharmacogenomics analyses revealed another 3.9 potentially relevant genotypes per individual. INTERPRETATION: Our analyses identified a spectrum of genetic variants with potential health impact in 25% of participants. When also considering recessive alleles and variants with potential pharmacologic relevance, all 56 participants had medically relevant findings. Although access is mostly limited to research, whole genome sequencing can provide specific and novel information with the potential of major impact for health care., Rapid technological advances are enabling a view of human genetic variation in ever-increasing detail and at plummeting costs. (1) Until recently, analysis has been targeted largely to defined genes, but [...]

Published
2018
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45. Pharmacogenetic profiling via genome sequencing in children with medical complexity

Author

Pan, Amy, primary, Scodellaro, Sierra, additional, Khan, Tayyaba, additional, Ushcatz, Inna, additional, Wu, Wendy, additional, Curtis, Meredith, additional, Cohen, Eyal, additional, Cohn, Ronald D., additional, Hayeems, Robin Z., additional, Meyn, M. Stephen, additional, Orkin, Julia, additional, Otal, Jaskiran, additional, Reuter, Miriam S., additional, Walker, Susan, additional, Scherer, Stephen W., additional, Marshall, Christian R., additional, Cohn, Iris, additional, and Costain, Gregory, additional

Published
2022
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47. Contributors

Author

Aaen, Gregory S., primary, Abend, Nicholas Scott, additional, Abou-Hamden, Amal, additional, Allen, Jeffrey C., additional, Amato, Anthony A., additional, Amlie-Lefond, Catherine, additional, Ashwal, Stephen, additional, Bailey, Russell C., additional, Bale, James F., additional, Banwell, Brenda, additional, Barañano, Kristin W., additional, Barkovich, A. James, additional, Barohn, Richard J., additional, Bartels, Ute K., additional, Bartnik-Olson, Brenda, additional, Barzilai, Ori, additional, Bassuk, Alexander, additional, Bearden, David R., additional, Ben-Sira, Liat, additional, Bernard, Timothy J., additional, Berry-Kravis, Elizabeth, additional, Beslow, Lauren A., additional, Biegel, Jaclyn A., additional, Billinghurst, Lori, additional, Birnbaum, Angela K., additional, Blackburn, Joanna S., additional, Bobowski, Nuala, additional, Boire, Adrienne, additional, Bönnemann, Carsten G., additional, Bonifacio, Sonia L., additional, Bonthius, Daniel J., additional, Borcherding, Breck, additional, Branchford, Brian R., additional, Brandsema, John, additional, Brennan, Kathryn M., additional, Brenton, J. Nicholas, additional, Brooks-Kayal, Amy R., additional, Brown, Lawrence W., additional, Buchalter, Jeffrey, additional, Camfield, Carol S., additional, Camfield, Peter R., additional, Campoy, Cristina, additional, Carpenter, Jessica L., additional, Chang, Taeun, additional, Chau, Vann, additional, Chi, Susan N., additional, Chiriboga, Claudia A., additional, Cho, Yoon-Jae, additional, Christian, Cindy W., additional, Chrestian, Nicholas, additional, Cilio, Maria Roberta, additional, Clark, Robin D., additional, Cohen, Bruce H., additional, Cohn, Ronald D., additional, Connolly, Anne M., additional, Constable, Todd, additional, Constantini, Shlomi, additional, Conway, Jeannine M., additional, Coulter, David L., additional, Cowan, Tina M., additional, Dale, Russell C., additional, Darbro, Benjamin, additional, Darras, Basil T., additional, Dastgir, Jahannaz, additional, De Meirleir, Linda, additional, De Vivo, Darryl C., additional, de Vries, Linda S., additional, Deisch, Jeremy K., additional, Deltenre, Paul, additional, Desai, Jay, additional, Descartes, Maria, additional, deVeber, Gabrielle, additional, Dhamne, Sameer C., additional, Diaz, Jullianne, additional, DiMauro, Salvatore, additional, Dobyns, William B., additional, Doherty, Dan, additional, Donner, Elizabeth J., additional, Dosenbach, Nico U.F., additional, Dowling, James J., additional, Drake, James M., additional, Ejerskov, Cecile, additional, Engel, Andrew G., additional, Enns, Gregory M., additional, Escolano-Margarit, María Victoria, additional, Etzion, Iris, additional, Fatemi, S. Ali, additional, Fehlings, Darcy L., additional, Feinberg, Michelle Lauren, additional, Ferriero, Donna M., additional, Filipek, Pauline A., additional, Finkel, Richard S., additional, Fisher, Paul G., additional, Flanigan, Kevin, additional, Foreman, Nicholas K., additional, Franco, Israel, additional, Frank, Yitzchak, additional, Fredrick, Douglas R., additional, Freeze, Hudson H., additional, Fuente-Mora, Cristina, additional, Furman, Joseph M., additional, Gallagher, Renata C., additional, Garel, Catherine, additional, Gertsch, Emily, additional, Gilbert, Donald L., additional, Gilles, Elizabeth E., additional, Giza, Christopher C., additional, Glaser, Carol A., additional, Glass, Hannah C., additional, Glauser, Tracy, additional, Glykys, Joseph, additional, Goldstein, Amy, additional, Gonorazky, Hernan Dario, additional, Gonzalez, Rodolfo, additional, Goodkin, Howard P., additional, Graham, John M., additional, Greninger, Alexander L., additional, Gronseth, Gary, additional, Gropman, Andrea L., additional, Grundy, Richard, additional, Guerrini, Renzo, additional, Gupta, Nalin, additional, Hahn, Jin S., additional, Hamblin, Milton H., additional, Hani, Abeer J., additional, Hanmantgad, Sharyu, additional, Harbert, Mary J., additional, Harini, Chellamani, additional, Harriott, Andrea M., additional, Heatwole, Chad, additional, Hershey, Andrew D., additional, Hirtz, Deborah G., additional, Holmes, Gregory L., additional, Holshouser, Barbara A., additional, Hurwitz, Kathleen A., additional, Hwang, Eugene, additional, Ichord, Rebecca N., additional, Jafar-Nejad, Paymaan, additional, Jain, Sejal V., additional, Jordan, Lori, additional, Kabbouche, Marielle A., additional, Kacperski, Joanne, additional, Kang, Peter B., additional, Kariannis, Matthias A., additional, Kaufmann, Horacio, additional, Kaye, Harper L., additional, Keating, Robert, additional, Kennedy, Colin R., additional, Khakoo, Yasmin, additional, Kirton, Adam, additional, Kissel, John T., additional, Knupp, Kelly G., additional, Korf, Bruce R., additional, Kossoff, Eric H., additional, Kothare, Sanjeev V., additional, Kupfer, Oren, additional, LaFrance, W. Curt, additional, Latal, Beatrice, additional, Leber, Steven M., additional, Lee, Jean-Pyo, additional, Leppik, Ilo E., additional, Lerman-Sagie, Tally, additional, Lerner, Jason T., additional, Leventer, Richard J., additional, Licht, Daniel J., additional, Lichter-Konecki, Uta, additional, Lidar, Zvi, additional, Liem, Djin Gie, additional, Loddenkemper, Tobias, additional, Long, Roger K., additional, Luc, Quyen N., additional, Mackay, Mark, additional, Majnemer, Annette, additional, Makhani, Naila, additional, Malinger, Gustavo, additional, Mandelbaum, David E., additional, Maricich, Stephen M., additional, Maski, Kiran P., additional, Mathur, Mudit, additional, Matthews, Dennis J., additional, McMahon, Kelly, additional, DeMara-Hoth, Megan B., additional, Mendelsohn, Bryce, additional, Mennella, Julie A., additional, Ment, Laura R., additional, Mercuri, Eugenio, additional, Michelson, David J., additional, Mikati, Mohamad A., additional, Mikhail, Fady M., additional, Miller, Steven Paul, additional, Milunsky, Jeff M., additional, Mink, Jonathan W., additional, Mirzaa, Ghayda M., additional, Mitchell, Wendy G., additional, Mohan, Michael A., additional, Mohassel, Payam, additional, Moharir, Mahendranath, additional, Monani, Umrao R., additional, Monje Deisseroth, Michelle, additional, Moodley, Manikum, additional, Mower, Andrew, additional, Moxley, Richard T., additional, Mueller, Sabine, additional, Muotri, Alysson R., additional, Nagamani, Sandesh C.S., additional, Narayanan, Mohan J., additional, Narayanan, Vinodh, additional, Nass, Ruth D., additional, Neul, Jeffrey L., additional, Nevo, Yoram, additional, Ng, Bobby G., additional, Nickels, Katherine C., additional, Nimmo, Graeme A.M., additional, Noetzel, Michael J., additional, Norcliffe-Kaufmann, Lucy, additional, Nordli, Douglas R., additional, Nowak-Göttl, Ulrike, additional, O'Brien, Hope L., additional, Oleszek, Joyce, additional, Oskoui, Maryam, additional, Paciorkowski, Alex R., additional, Packer, Roger J., additional, Packman, Seymour, additional, Palma, Jose-Alberto, additional, Pardo, Andrea C., additional, Parsons, Julie A., additional, Partridge, John Colin, additional, Pastores, Gregory M., additional, Patterson, Marc C., additional, Pearce, William J., additional, Pearl, Phillip L., additional, Penner, Melanie, additional, Percival, Leila, additional, Pereira, Marcia, additional, Pfister, Stefan M., additional, Phillips, John, additional, Plecko, Barbara, additional, Plioplys, Sigita, additional, Poduri, Annapurna, additional, Poisson, Sharon, additional, Pomeroy, Scott L., additional, Poretti, Andrea, additional, Powers, Scott W., additional, Pranzatelli, Michael R., additional, Przekop, Allison, additional, Rabie, Malcolm, additional, Rangasamy, Sampathkumar, additional, Raymond, Gerald V., additional, Reddy, Alyssa T., additional, Rendleman, Rebecca L., additional, Rho, Jong M., additional, Rodan, Lance H., additional, Roddy, Sarah M., additional, Rogers, Elizabeth E., additional, Rosenthal, Stephen M., additional, Rosman, N. Paul, additional, Ross, M. Elizabeth, additional, Rotenberg, Alexander, additional, Rust, Robert S., additional, Sanchez, Cheryl P., additional, Sanchez, Pedro, additional, Sánchez Fernández, Iván, additional, Sands, Tristan T., additional, Sanger, Terence D., additional, Sannagowdara, Kumar, additional, Scheinost, Dustin, additional, Scher, Mark S., additional, Schor, Nina F., additional, Schrauwen, Isabelle, additional, Segal, Michael M., additional, Seinfeld, Syndi, additional, Selcen, Duygu, additional, Seltzer, Laurie E., additional, Semrud-Clikeman, Margaret, additional, Shaw, Dennis W., additional, Shaywitz, Bennett A., additional, Shaywitz, Sally E., additional, Shellhaas, Renée A., additional, Sherr, Elliott H., additional, Sheth, Rita D., additional, Shevell, Michael I., additional, Shinnar, Shlomo, additional, Shofty, Ben, additional, Shu, Stanford K., additional, Shy, Michael E., additional, Silveira Moriyama, Laura, additional, Silvestri, Nicholas J., additional, Sims, Katherine B., additional, Singer, Harvey S., additional, Singhal, Nilika Shah, additional, Smith, Craig M., additional, Smith, Edward, additional, Smith, Stephen A., additional, Snyder, Evan Y., additional, Soul, Janet, additional, Spalink, Christy L., additional, Spencer, Karen A., additional, Stafstrom, Carl E., additional, Steinfeld, Robert, additional, Strober, Jonathan B., additional, Sullivan, Joseph, additional, Swaiman, Kenneth F., additional, Swoboda, Kathryn J., additional, Tate, Elizabeth D., additional, Tatum, William O., additional, Tein, Ingrid, additional, Tekulve, Kristyn, additional, Tenney, Jeffrey R., additional, Thiele, Elizabeth A., additional, Thompson-Stone, Robert, additional, Tochen, Laura, additional, Tormoehlen, Laura M., additional, Tran, Lily, additional, Trauner, Doris A., additional, Turnacioglu, Sinan O., additional, Ullrich, Nicole J., additional, Urion, David K., additional, Van Camp, Guy, additional, Van Hirtum-Das, Michèle, additional, van Karnebeek, Clara D.M., additional, Van Maldergem, Lionel, additional, Vanderver, Adeline, additional, Vitanza, Nicholas A., additional, von Rhein, Michael, additional, von Scheven, Emily, additional, Wagner, Ann, additional, Wainwright, Mark S., additional, Walker, Melissa A., additional, Walkup, John T., additional, Walsh, Laurence, additional, Walters-Sen, Lauren C., additional, Wang, Raymond Y., additional, Warner, Thomas T., additional, Whelan, Harry T., additional, Weinberg, Geoffrey A., additional, Wells, Elizabeth M., additional, Wheless, James W., additional, Wirrell, Elaine C., additional, Wisoff, Jeffrey H., additional, Wolf, Nicole I., additional, Wolfe, Gil I., additional, Wright, F. Virginia, additional, Wycliffe, Nathaniel D., additional, Yang, Michele L., additional, Yuskaitis, Christopher J., additional, Zoghbi, Huda Y., additional, and Zupanc, Mary L., additional

Published
2017
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48. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

Author

Morton, Sarah U., primary, Christodoulou, John, additional, Costain, Gregory, additional, Muntoni, Francesco, additional, Wakeling, Emma, additional, Wojcik, Monica H., additional, French, Courtney E., additional, Szuto, Anna, additional, Dowling, James J., additional, Cohn, Ronald D., additional, Raymond, F. Lucy, additional, Darras, Basil T., additional, Williams, David A., additional, Lunke, Sebastian, additional, Stark, Zornitza, additional, Rowitch, David H., additional, and Agrawal, Pankaj B., additional

Published
2022
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50. eP205: Pharmacogenetic profiling via genome sequencing in children with medical complexity

Author

Pan, Amy, primary, Scodellaro, Sierra, additional, Khan, Tayyaba, additional, Ushcatz, Inna, additional, Wu, Wendy, additional, Curtis, Meredith, additional, Cohen, Eyal, additional, Cohn, Ronald, additional, Hayeems, Robin, additional, Meyn, M. Stephen, additional, Orkin, Julia, additional, Otal, Jaskiran, additional, Reuter, Miriam, additional, Walker, Susan, additional, Scherer, Stephen, additional, Marshall, Christian, additional, Cohn, Iris, additional, and Costain, Gregory, additional

Published
2022
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