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3. 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

6. 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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7. 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

8. 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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9. 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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10. 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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11. 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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15. 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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17. 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

18. 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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21. 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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23. 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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25. 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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26. 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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28. 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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31. 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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34. Self-Assembled Oligo-Urethane Nanoparticles: Their Characterization and Use for the Delivery of Active Biomolecules into Mammalian Cells

Author

Shrestha, Suja, primary, McFadden, Meghan J., additional, Teng, Allen C. T., additional, Chang, Patrick Dong Min, additional, Deng, Joyce, additional, Wong, Tatianna W. Y., additional, Cohn, Ronald D., additional, Ivakine, Evgueni A., additional, Gramolini, Anthony O., additional, and Santerre, J. Paul, additional

Published
2021
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36. Editorial: Current Insights Into LAMA2 Disease

Author

Previtali, Stefano C., Cohn, Ronald D., and Ruegg, Markus A.

Subjects
therapy, Editorial, laminin, mouse model, pathogenesis, clinical aspect, Molecular Neuroscience
Published
2021

37. Urgent call for guidance supporting gene-based drug dosing in children and adolescents.

Author

Scodellaro, Sierra, Cohn, Ronald D, and Cohn, Iris

Subjects
*DRUG dosage, *PHARMACOGENOMICS, *INDIVIDUALIZED medicine, *PEDIATRICS, *DECISION making in clinical medicine, *CHILDREN, *ADOLESCENCE
Abstract

In the past decade, there have been tremendous advancements in the field of genomics that have led to significant progress in redefining the concept of precision medicine. Pharmacogenetics (PGx) is one of the most promising areas of precision medicine and is the 'low hanging fruit' of this individualized approach to medication dosing and selection. Although a variety of regulatory health agencies and professional consortia have established PGx clinical practice guidelines, implementation has been slow given numerous barriers faced by health care professionals. Many lack the training needed to interpret PGx and there are no paediatric specific guidelines. As the field of PGx continues to grow, an emphasis on collaborative inter-professional education, coupled with ongoing efforts to increase accessibility to advancing testing technology are necessary to translate this branch of precision medicine from the bench to the bedside. [ABSTRACT FROM AUTHOR]

Published
2023
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38. Genome sequencing among children with medical complexity: What constitutes value from parents’ perspective?

Author

Lee, Whiwon, primary, Luca, Stephanie, additional, Costain, Gregory, additional, Snell, Meaghan, additional, Marano, Maria, additional, Curtis, Meredith, additional, Dunsmore, Kourtney, additional, Veenma, Danielle, additional, Walker, Susan, additional, Cohn, Ronald D., additional, Marshall, Christian R., additional, Cohen, Eyal, additional, Meyn, M. Stephen, additional, Orkin, Julia, additional, and Hayeems, Robin Z., additional

Published
2021
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39. SARS-CoV-2 antibodies in Ontario health care workers during and after the first wave of the pandemic: a cohort study

Author

Science, Michelle, primary, Bolotin, Shelly, additional, Silverman, Michael, additional, Nadarajah, Jeya, additional, Maguire, Bryan, additional, Parekh, Rulan S., additional, McGeer, Allison, additional, Schwartz, Kevin L., additional, Alexander, Laura, additional, Allen, Upton, additional, Ariyarajah, Archchun, additional, Castellani, Lucas, additional, Cohn, Ronald D., additional, Downing, Mark, additional, Katz, Kevin, additional, Kazmi, Kescha, additional, Leis, Jerome A., additional, Liu, Derek, additional, Pernica, Jeffrey M., additional, Schneiderman, Jane E., additional, Sumaida, Maya, additional, and Campigotto, Aaron, additional

Published
2021
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42. Saturation variant interpretation using CRISPR prime editing

Author

Erwood, Steven, primary, Bily, Teija M.I., additional, Lequyer, Jason, additional, Yan, Joyce, additional, Gulati, Nitya, additional, Brewer, Reid A., additional, Zhou, Liangchi, additional, Pelletier, Laurence, additional, Ivakine, Evgueni A., additional, and Cohn, Ronald D., additional

Published
2021
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43. Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression

Author

Maino, Eleonora, primary, Wojtal, Daria, additional, Evagelou, Sonia L, additional, Farheen, Aiman, additional, Wong, Tatianna W Y, additional, Lindsay, Kyle, additional, Scott, Ori, additional, Rizvi, Samar Z, additional, Hyatt, Elzbieta, additional, Rok, Matthew, additional, Visuvanathan, Shagana, additional, Chiodo, Amanda, additional, Schneeweiss, Michelle, additional, Ivakine, Evgueni A, additional, and Cohn, Ronald D, additional

Published
2021
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47. Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?

Author

Lee, Whiwon, Luca, Stephanie, Costain, Gregory, Snell, Meaghan, Marano, Maria, Curtis, Meredith, Dunsmore, Kourtney, Veenma, Danielle, Walker, Susan, Cohn, Ronald D., Marshall, Christian R., Cohen, Eyal, Meyn, M. Stephen, Orkin, Julia, and Hayeems, Robin Z.

Abstract

Genome sequencing (GS) has demonstrated high diagnostic yield in pediatric patients with complex, clinically heterogeneous presentations. Emerging evidence shows generally favorable experiences for patients and families receiving GS. As a result, implementation of GS in pediatrics is gaining momentum. To inform implementation, we conducted a qualitative study to explore the personal utility of GS for parents of children with medical complexity (CMC). GS was performed at an academic tertiary‐care center for CMC for whom a genetic etiology was suspected. Following the return of GS results, semi‐structured interviews were conducted with 14 parents about their child's diagnostic journey. Of the children whose parents were interviewed, six children received a diagnosis, two received a possible diagnosis, and six did not receive a diagnosis. A predominantly deductive thematic analysis approach to the interview data was used by applying Kohler's personal utility framework to understand affective, cognitive, behavioral and social impacts of GS. Both the diagnosed and undiagnosed groups experienced enhanced emotion‐focused coping (affective). The diagnosed group experienced favorable utility related to knowledge of condition (cognitive) and communication with relatives (behavioral). A domain beyond Kohler's framework related to the presence or absence of GS impact on medical management was also described by parents. The deployment of GS late in the diagnostic odyssey and the limited knowledge available for the rare genetic disorders diagnosed in this cohort appeared to diminish the perceived utility of GS. As GS capabilities continue to evolve at a rapid pace and become available earlier in the diagnostic journey, it is important to consider the impact and timing of testing on parents of CMC. [ABSTRACT FROM AUTHOR]

Published
2022
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48. An Irak1-Mecp2 tandem duplication mouse model for the study of MECP2 duplication syndrome

Author

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

Abstract

MECP2 duplication syndrome (MDS) is a neurodevelopmental disorder caused by tandem duplication of the MECP2 locus and its surrounding genes, including IRAK1. Current MDS mouse models involve transgenic expression of MECP2 only, limiting their applicability to the study of the disease. Herein, we show that an efficient and precise CRISPR/Cas9 fusion proximity-based approach can be utilized to generate an Irak1-Mecp2 tandem duplication mouse model (‘Mecp2 Dup’). The Mecp2 Dup mouse model recapitulates the genomic landscape of human MDS by harboring a 160 kb tandem duplication encompassing Mecp2 and Irak1, representing the minimal disease-causing duplication, and the neighboring genes Opn1mw and Tex28. The Mecp2 Dup model exhibits neuro-behavioral abnormalities, and an abnormal immune response to infection not previously observed in other mouse models, possibly owing to Irak1 overexpression. The Mecp2 Dup model thus provides a tool to investigate MDS disease mechanisms and develop potential therapies applicable to patients.

Published
2024
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49. Angiotensin II type 1 receptor blockade attenuates TGF-[beta]-induced failure of muscle regeneration in multiple myopathic states

Author

Cohn, Ronald D, van Erp, Christel, Habashi, Jennifer P, Soleimani, Arshia A, Klein, Erin C, Lisi, Matthew T, Gamradt, Matthew, ap Rhys, Colette M, Holm, Tammy M, Loeys, Bart L, Ramirez, Francesco, Judge, Daniel P, Ward, Christopher W, and Dietz, Harry C

Abstract

Author(s): Ronald D Cohn [1, 2]; Christel van Erp [1]; Jennifer P Habashi [2, 3]; Arshia A Soleimani [1]; Erin C Klein [1]; Matthew T Lisi [1]; Matthew Gamradt [1]; [...]

Published
2007
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50. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene

Author

Peddy, Stacie B., Vricella, Luca A., Crosson, Jane E., Oswald, Gretchen L., Cohn, Ronald D., Cameron, Duke E., Valle, David, and Loeys, Bart L.

Subjects
Cardiomyopathy -- Risk factors, Cardiomyopathy -- Diagnosis, Cardiomyopathy -- Care and treatment
Abstract

Here we report the first infantile case of restrictive cardiomyopathy caused by a de novo mutation of the cardiac troponin T gene. The patient presented with an apparent life-threatening event. She developed malignant arrhythmias and hemodynamic instability, requiring initial rescue support with extracorporeal membrane oxygenation, and subsequently underwent insertion of a biventricular assist device (VAD). She successfully received an orthotopic heart transplant 172 days after VAD implantation. Key Words: restrictive cardiomyopathy, cardiac troponin T, myosin binding protein C, extracorporeal membrane oxygenation, ventricular assist-device, cardiac transplantation, Abbreviations: RCM, restrictive cardiomyopathy; ECG, electrocardiogram; ECHO, echocardiogram; ECMO, extracorporeal membrane oxygenation; VAD, biventricular assist device; HCM, hypertrophic cardiomyopathy; DCM, dilated cardiomyopathy RESTRICTIVE CARDIOMYOPATHY (RCM) is a rare cardiomyopathic disorder [...]

Published
2006

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