المؤلفون: Hallquist, Miranda L. G.^{Aff1, IDs41431023014010_cor1}, Borensztein, Maia J., Coughlin, II, Curtis R., Buchanan, Adam H., Andrew Faucett, W., Peay, Holly L., Smith, Maureen E., Tricou, Eric P.^{Aff1, Aff2}, Uhlmann, Wendy R., Wain, Karen E., Ormond, Kelly E.^{Aff2, Aff7, Aff8}

المصدر: European Journal of Human Genetics. 31(10):1165-1174

المؤلفون: Hallquist, Miranda L. G.^Aff1, Tricou, Eric P.^{Aff1, Aff2}, Ormond, Kelly E., Savatt, Juliann M., Coughlin, II, Curtis R., Faucett, W. Andrew, Hercher, Laura, Levy, Howard P., O’Daniel, Julianne M., Peay, Holly L., Stosic, Melissa, Smith, Maureen, Uhlmann, Wendy R., Wand, Hannah, Wain, Karen E., Buchanan, Adam H.

المصدر: Genome Medicine. 13(1)

المؤلفون: Delaney, Susan K, Hultner, Michael L, Jacob, Howard J, Ledbetter, David H, McCarthy, Jeanette J, Ball, Michael, Beckman, Kenneth B, Belmont, John W, Bloss, Cinnamon S, Christman, Michael F, Cosgrove, Andy, Damiani, Stephen A, Danis, Timothy, Delledonne, Massimo, Dougherty, Michael J, Dudley, Joel T, Faucett, W Andrew, Friedman, Jennifer R, Haase, David H, Hays, Tom S, Heilsberg, Stu, Huber, Jeff, Kaminsky, Leah, Ledbetter, Nikki, Lee, Warren H, Levin, Elissa, Libiger, Ondrej, Linderman, Michael, Love, Richard L, Magnus, David C, Martland, AnneMarie, McClure, Susan L, Megill, Scott E, Messier, Helen, Nussbaum, Robert L, Palaniappan, Latha, Patay, Bradley A, Popovich, Bradley W, Quackenbush, John, Savant, Mark J, Su, Michael M, Terry, Sharon F, Tucker, Steven, Wong, William T, Green, Robert C

المصدر: Expert Review of Molecular Diagnostics. 16(5)

مصطلحات موضوعية: Genetics, Biotechnology, Clinical Research, Cancer, Human Genome, Generic health relevance, Good Health and Well Being, Delivery of Health Care, Genetic Testing, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Precision Medicine, Reagent Kits, Diagnostic, Personalized medicine, precision medicine, clinical genomics, practice standards, genomic data, exome, genome, sequencing, genetic testing, Clinical Sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3g57t14n

المؤلفون: D’Angelo, Debra, Lebon, Sébastien, Chen, Qixuan, Martin-Brevet, Sandra, Snyder, LeeAnne Green, Hippolyte, Loyse, Hanson, Ellen, Maillard, Anne M, Faucett, W Andrew, Macé, Aurélien, Pain, Aurélie, Bernier, Raphael, Chawner, Samuel JRA, David, Albert, Andrieux, Joris, Aylward, Elizabeth, Baujat, Genevieve, Caldeira, Ines, Conus, Philippe, Ferrari, Carrina, Forzano, Francesca, Gérard, Marion, Goin-Kochel, Robin P, Grant, Ellen, Hunter, Jill V, Isidor, Bertrand, Jacquette, Aurélia, Jønch, Aia E, Keren, Boris, Lacombe, Didier, Le Caignec, Cédric, Martin, Christa Lese, Männik, Katrin, Metspalu, Andres, Mignot, Cyril, Mukherjee, Pratik, Owen, Michael J, Passeggeri, Marzia, Rooryck-Thambo, Caroline, Rosenfeld, Jill A, Spence, Sarah J, Steinman, Kyle J, Tjernagel, Jennifer, Van Haelst, Mieke, Shen, Yiping, Draganski, Bogdan, Sherr, Elliott H, Ledbetter, David H, van den Bree, Marianne BM, Beckmann, Jacques S, Spiro, John E, Reymond, Alexandre, Jacquemont, Sébastien, Chung, Wendy K

المصدر: JAMA Psychiatry. 73(1)

مصطلحات موضوعية: Biological Psychology, Psychology, Intellectual and Developmental Disabilities (IDD), Behavioral and Social Science, Mental Health, Pediatric, Clinical Research, Brain Disorders, Autism, Aetiology, 2.1 Biological and endogenous factors, Mental health, Adolescent, Adult, Autism Spectrum Disorder, Autistic Disorder, Case-Control Studies, Cerebellum, Child, Child, Preschool, Chromosome Deletion, Chromosome Disorders, Chromosome Duplication, Chromosomes, Human, Pair 16, Cognition, Cohort Studies, Comorbidity, DNA Copy Number Variations, Developmental Disabilities, Epilepsy, Female, Humans, Intellectual Disability, Male, Microcephaly, Middle Aged, Nervous System Malformations, Schizophrenia, Schizophrenic Psychology, Young Adult, Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study, 16p11.2 European Consortium, Simons Variation in Individuals Project (VIP) Consortium, Other Medical and Health Sciences, Cognitive Sciences, Clinical sciences, Clinical and health psychology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/0x58q3tq

المؤلفون: Savatt, Juliann, Pisieczko, Cassandra J., Zhang, Yanfei, Lee, Ming Ta Michael, Faucett, W. Andrew, Williams, Janet L.^Aff2

المصدر: Current Genetic Medicine Reports. 7(3):153-161

المؤلفون: Buchanan, Adam H.^{Aff1, Aff2}, Manickam, Kandamurugu^{Aff1, Aff2}, Meyer, Michelle N.^{Aff1, Aff3}, Wagner, Jennifer K.^{Aff1, Aff3}, Hallquist, Miranda L. G.^{Aff1, Aff2}, Williams, Janet L.^{Aff1, Aff2}, Rahm, Alanna Kulchak^{Aff1, Aff2}, Williams, Marc S.^{Aff1, Aff2}, Chen, Zong-Ming E.^{Aff1, Aff4}, Shah, Chaitali K.^{Aff1, Aff5}, Garg, Tullika K.^{Aff1, Aff6}, Lazzeri, Amanda L.^{Aff1, Aff2}, Schwartz, Marci L. B.^{Aff1, Aff2}, Lindbuchler, D’ Andra M.^{Aff1, Aff2}, Fan, Audrey L.^{Aff1, Aff2}, Leeming, Rosemary^{Aff1, Aff7}, Servano, III, Pedro O.^{Aff1, Aff8}, Smith, Ashlee L.^{Aff1, Aff9}, Vogel, Victor G.^{Aff1, Aff10}, Abul-Husn, Noura S., Dewey, Frederick E., Lebo, Matthew S., Mason-Suares, Heather M., Ritchie, Marylyn D.^{Aff1, Aff13}, Davis, F. Daniel^{Aff1, Aff3}, Carey, David J.^{Aff1, Aff14}, Feinberg, David T.^{Aff1, Aff15}, Faucett, W. Andrew^{Aff1, Aff2}, Ledbetter, David H.^{Aff1, Aff2}, Murray, Michael F.^{Aff1, Aff2}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(12):2470-2470

المؤلفون: Ormond, Kelly E.^Aff1, Hallquist, Miranda L. G., Buchanan, Adam H., Dondanville, Danielle, Cho, Mildred K., Smith, Maureen, Roche, Myra, Brothers, Kyle B., Coughlin, II, Curtis R., Hercher, Laura, Hudgins, Louanne, Jamal, Seema, Levy, Howard P., Raskin, Misha^{Aff2, Aff13}, Stosic, Melissa, Uhlmann, Wendy, Wain, Karen E., Currey, Erin, Faucett, W. Andrew

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(3):727-735

المؤلفون: Beckmann, Noam, Hanson, Ellen, Maillard, Anne, Hippolyte, Loyse, Macé, Aurélien, Ferrari, Carina, Kutalik, Zoltán, Andrieux, Joris, Aylward, Elizabeth, Barker, Mandy, Bernier, Raphael, Bouquillon, Sonia, Conus, Philippe, Delobel, Bruno, Faucett, W, Goin-Kochel, Robin, Grant, Ellen, Harewood, Louise, Hunter, Jill, Lebon, Sébastien, Ledbetter, David, Martin, Christa, Männik, Katrin, Martinet, Danielle, Ramocki, Melissa, Spence, Sarah, Steinman, Kyle, Tjernagel, Jennifer, Spiro, John, Reymond, Alexandre, Beckmann, Jacques, Chung, Wendy, Jacquemont, Sébastien, Zufferey, Flore, Mukherjee, Pratik, Sherr, Elliott

المصدر: Journal of Medical Genetics. 49(10)

مصطلحات موضوعية: Adolescent, Adult, Body Mass Index, Child, Child Development Disorders, Pervasive, Chromosome Deletion, Chromosomes, Human, Pair 16, Developmental Disabilities, Female, Gene Order, Heterozygote, Humans, Intelligence Tests, Male, Phenotype, Syndrome, Young Adult

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3606w313
https://escholarship.org/content/qt3606w313/qt3606w313.pdf

المؤلفون: Kelly, Melissa, Savatt, Juliann, Sturm, Amy, McCormick, Cara, Williams, Marc, Strande, Natasha, Faucett, W. Andrew, Ledbetter, David, Buchanan, Adam, Martin, Christa

المصدر: In Genetics in Medicine Open 2024 2 Supplement 1

المؤلفون: Buchanan, Adam H^{Aff1, Aff2}, Manickam, Kandamurugu^{Aff1, Aff2}, Meyer, Michelle N^{Aff1, Aff3}, Wagner, Jennifer K^{Aff1, Aff3}, Hallquist, Miranda L G^{Aff1, Aff2}, Williams, Janet L^{Aff1, Aff2}, Rahm, Alanna Kulchak^{Aff1, Aff2}, Williams, Marc S^{Aff1, Aff2}, Chen, Zong-Ming E^{Aff1, Aff4}, Shah, Chaitali K^{Aff1, Aff5}, Garg, Tullika K^{Aff1, Aff6}, Lazzeri, Amanda L^{Aff1, Aff2}, Schwartz, Marci L B^{Aff1, Aff2}, Lindbuchler, D'Andra M^{Aff1, Aff2}, Fan, Audrey L^{Aff1, Aff2}, Leeming, Rosemary^{Aff1, Aff7}, Servano, III, Pedro O^{Aff1, Aff8}, Smith, Ashlee L^{Aff1, Aff9}, Vogel, Victor G^{Aff1, Aff10}, Abul-Husn, Noura S, Dewey, Frederick E, Lebo, Matthew S, Mason-Suares, Heather M, Ritchie, Marylyn D^{Aff1, Aff13}, Davis, F Daniel^{Aff1, Aff3}, Carey, David J^{Aff1, Aff14}, Feinberg, David T^{Aff1, Aff15}, Faucett, W Andrew^{Aff1, Aff2}, Ledbetter, David H^{Aff1, Aff2}, Murray, Michael F^{Aff1, Aff2}

المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(5):554-558