المؤلفون: Jathishinie Jegathisawaran, Kate Tsiplova, Robin Z. Hayeems, Christian R. Marshall, Dimitri J. Stavropoulos, Sergio L. Pereira, Bhooma Thiruvahindrapuram, Eriskay Liston, Miriam S. Reuter, Roozbeh Manshaei, Iris Cohn, Rebekah Jobling, Raymond H. Kim, Seema Mital, Wendy J. Ungar

المصدر: Genetics in Medicine. 24:1027-1036

مصطلحات موضوعية: Parents, Base Sequence, Pharmacogenetics, Chromosome Mapping, Humans, Child, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10398f232bc61e1a6ce5a248892f3d98Test
https://doi.org/10.1016Test/j.gim.2022.01.020

المؤلفون: Ronald D. Cohn, Michal Inbar-Feigenberg, Christoph Licht, Sarah Bowdin, Dimitri J. Stavropoulos, Rosanna Weksberg, Gregory Costain, Sharon D. Dell, Cheryl Shuman, Wilson W L Sung, Rebekah Jobling, Ronald M. Laxer, Regan Klatt, Giovanna Pellecchia, Stacy Hewson, Zhuozhi Wang, Cyrus Boelman, Saadet Mercimek-Andrews, Anath C. Lionel, Roberto Mendoza-Londono, M. Stephen Meyn, Linda T. Hiraki, Rayfel Schneider, Nasim Monfared, Robin Z. Hayeems, Susan Walker, Christian R. Marshall, Komudi Siriwardena, Jonathan B. Kronick, Melissa T. Carter, Jonathan D. Wasserman, Priya Dhir, Neal Sondheimer, Stephen W. Scherer, Peter N. Ray, Thomas Nalpathamkalam, Dawn Cordeiro, Earl D. Silverman, Michael J. Szego, S. Mohsen Hosseini, Elise Heon, Ajoy Vincent, Andreas Schulze, James J. Dowling, Bhooma Thiruvahindrapuram, Peter Bikangaga, Joanne Sutherland, Heather MacDonald, Cheryl Cytrynbaum, Daniele Merico, Raveen K. Basran, Tino D. Piscione, O. Carter Snead, Miriam S. Reuter, Chris Carew

المصدر: Genetics in Medicine

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Copy Number Variations, Sequence analysis, Bioinformatics, DNA sequencing, 03 medical and health sciences, Exome Sequencing, Genetic variation, diagnostics, medicine, Humans, Exome, Genetic Predisposition to Disease, Original Research Article, Genetic Testing, Copy-number variation, Genetic Association Studies, Genetics (clinical), Exome sequencing, Genetic testing, Whole genome sequencing, Whole Genome Sequencing, medicine.diagnostic_test, business.industry, copy number variation, Genetic Diseases, Inborn, noncoding, Computational Biology, Genetic Variation, Molecular Sequence Annotation, Sequence Analysis, DNA, 3. Good health, Phenotype, 030104 developmental biology, whole-genome sequencing, next-generation sequencing, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78de18969f97867df7734393ef4728c8Test
https://doi.org/10.1038/gim.2017.119Test

المؤلفون: Christian R. Marshall, Edwin J. Young, Wilson W L Sung, Richard M. Zur, Dimitri J. Stavropoulos, Kate Tsiplova, Daniele Merico, Wendy J. Ungar, Sergio L. Pereira, Stephen W. Scherer

المصدر: Genetics in Medicine. 19:1268-1275

مصطلحات موضوعية: 0301 basic medicine, Marginal cost, Whole Genome Sequencing, Autism Spectrum Disorder, Genome, Human, Cost consequences, business.industry, 030105 genetics & heredity, Microarray Analysis, medicine.disease, 03 medical and health sciences, 030104 developmental biology, Unknown Significance, Autism spectrum disorder, Exome Sequencing, Statistics, Costs and Cost Analysis, medicine, Chromosomes, Human, Humans, Personalized medicine, business, Positive Finding, Genetics (clinical), Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2acf9fc1b45b3b21cd76fa3eb74355e7Test
https://doi.org/10.1038/gim.2017.47Test

المؤلفون: Renske G. Reijenga, Chelsea Lowther, Manjulata Rajguru, Kerry Boyd, Dimitri J. Stavropoulos, Lee-Anne Schultz, Matthew J. Gazzellone, Mark A. Tarnopolsky, Stephen W. Scherer, Jack H. Jung, Peter Bikangaga, Victoria Mok Siu, Gail E. Graham, Rob Nicolson, Christian R. Marshall, Sharan Goobie, Marsha Speevak, Christine M. Armour, Asmaa S. Hussain, Susan Zeesman, Antonella Morra, Anath C. Lionel, Mostafa Zaazou, Elizabeth McCready, Elaine Suk-Ying Goh, Chitra Prasad, Dawa Samdup, Małgorzata J.M. Nowaczyk, Anne S. Bassett, Chumei Li, Paul T. Dick, Margreet Walinga

المصدر: Paediatrics Publications
Genetics in medicine : official journal of the American College of Medical Genetics

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Copy Number Variations, Genotype, Microarray, Neuronal, Cell Adhesion Molecules, Neuronal, Nerve Tissue Proteins, Penetrance, Bioinformatics, Pediatrics, Article, NRXN1, 03 medical and health sciences, Exon, 0302 clinical medicine, Intellectual disability, Humans, Medicine, Genetic Predisposition to Disease, Child, Neural Cell Adhesion Molecules, Genetics (clinical), Sequence Deletion, business.industry, Microarray analysis techniques, Calcium-Binding Proteins, copy number variation, Exons, Odds ratio, Microarray Analysis, medicine.disease, Introns, Confidence interval, genotype-phenotype, variable expression, Phenotype, 030104 developmental biology, Neurodevelopmental Disorders, Female, business, Cell Adhesion Molecules, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1e4e6d8f98da004d063d5e7601a08e0Test
https://doi.org/10.1038/gim.2016.54Test

المؤلفون: Anath C. Lionel, Christian R. Marshall, Anne S. Bassett, Dimitri J. Stavropoulos, Alessia Dolcetti, Candice K. Silversides, Stephen W. Scherer

المصدر: Genetics in Medicine. 15:282-289

مصطلحات موضوعية: Adult, Male, Proband, Pediatrics, medicine.medical_specialty, Adolescent, Genetic counseling, Genetic Counseling, Biology, Article, Chromosome Duplication, medicine, Humans, Child, Genetics (clinical), Tetralogy of Fallot, Anticipation, Genetic, Macrocephaly, Infant, Middle Aged, medicine.disease, Phenotype, Chromosomes, Human, Pair 1, Autism spectrum disorder, Schizophrenia, Child, Preschool, Meta-analysis, Anticipation (genetics), Female, medicine.symptom

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6eda100241794aa32583d8098ea965dTest
https://doi.org/10.1038/gim.2012.129Test