Zobrazeno 1 - 10
of 16
pro vyhledávání: '"D James Stavropoulos"'
Autor:
Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman, Stephen W. Scherer
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
Abstract Background Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based
Externí odkaz:
https://doaj.org/article/6593be5fa35b44bd98744295b24e8adb
Autor:
Danielle A. Baribeau, Ny Hoang, Thanuja Selvanayagam, D. James Stavropoulos, Gregory Costain, Stephen W. Scherer, Jacob Vorstman
Publikováno v:
European journal of human genetics : EJHG. 30(11)
In children undergoing genetic testing for physical health concerns, we examined how often the results also revealed information about their risk for neurodevelopmental disorders. The study sample consisted of 3056 genetic tests (1686 chromosomal mic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3689f42a4c3e77986d9f860336bb691a
https://pubmed.ncbi.nlm.nih.gov/36068265
https://pubmed.ncbi.nlm.nih.gov/36068265
Autor:
Koen Devriendt, Danielle A. Baribeau, Barbara Kellam, Bob Argiropoulos, Moises A. Serrano, Stephen W. Scherer, Christian R. Marshall, D James Stavropoulos, Hope Twede, Anne S. Bassett, Jacob A. S. Vorstman, Gregory Costain, Susan Walker, Joris Vermeesch, Erik Boot, Aparna Prasad
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 11, Iss 1, Pp 1-10 (2019)
Journal of Neurodevelopmental Disorders
Journal of Neurodevelopmental Disorders
BACKGROUND: Ultra-rare genetic variants, including non-recurrent copy number variations (CNVs) affecting important dosage-sensitive genes, are important contributors to the etiology of neurodevelopmental disorders (NDDs). Pairing family-based whole-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1846abc3912169413ceac0e243b00321
http://link.springer.com/article/10.1186/s11689-019-9263-3
http://link.springer.com/article/10.1186/s11689-019-9263-3
Autor:
A. Micheil Innes, Oana Caluseriu, Stephen W. Scherer, Luk Ho-Ming, Brian H.Y. Chung, Michael Brudno, Andrei L. Turinsky, Sanaa Choufani, Jerry Machado, Barbara Kellam, Elizabeth McCready, Sarah J. Goodman, Celine Aziz, Rosanna Weksberg, Jung Min Ko, Melanie Keller, Eric Chater-Diehl, Cheryl Cytrynbaum, Daria Grafodatskaya, D James Stavropoulos, Kit San Yeung, Sau Wei Cheung, Renee Perrier
Publikováno v:
Journal of Translational Genetics and Genomics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f3fcbcca13292872d1782f3bbc1284e1
https://doi.org/10.20517/jtgg.2020.23
https://doi.org/10.20517/jtgg.2020.23
Autor:
Lina Ramos, D James Stavropoulos, Lucie Dupuis, Pedro Louro, Sarah Abdullah, Roberto Mendoza-Londono, Mayada Helal
Publikováno v:
American Journal of Medical Genetics Part A.
The widespread availability of comparative genomic hybridization (CGH) array analysis has led to the discovery of several genomic microdeletion-associated syndromes and has identified possible genetic causes for patients with previously unexplained c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a7c0b6018b606c62bbfe9243ee2a4a0
https://doi.org/10.1002/ajmg.a.61155
https://doi.org/10.1002/ajmg.a.61155
Autor:
Alison M. Elliott, Sarah Bowdin, Leslie G. Biesecker, Margaret P. Adam, Amy E. Roberts, Ian A. Glass, Fuki M. Hisama, John W. Belmont, Sharon E. Plon, Miriam G. Blitzer, Adel Gilbert, Gail E. Herman, Laird G. Jackson, Matthew A. Deardorff, Heidi L. Rehm, Alisha Wilkens, Cynthia C. Morton, Emma Bedoukian, Louanne Hudgins, Laurie A. Demmer, Cheryl Shuman, Christian R. Marshall, John J. Mulvihill, Christopher Carew, Mindy H. Li, Raymond H. Kim, Darrel Waggoner, D James Stavropoulos, Lisa C.A. D'Alessandro, Lucia A. Hindorff, David H. Ledbetter, A. Micheil Innes, Ronald D. Cohn, Nasim Monfared, Bruce R. Korf, Gail P. Jarvik, Hans T. Bjornsson, Livija Medne, Nancy B. Spinner, Barbara A. Bernhardt, Kathleen Valverde, Gerald L. Feldman, M. Stephen Meyn, Eriskay Liston, Ian D. Krantz
Publikováno v:
Genetics in Medicine. 18:1075-1084
The introduction of diagnostic clinical genome and exome sequencing (CGES) is changing the scope of practice for clinical geneticists. Many large institutions are making a significant investment in infrastructure and technology, allowing clinicians t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dd913bb58ec111d17e2a72a84ed4641
https://doi.org/10.1038/gim.2016.17
https://doi.org/10.1038/gim.2016.17
Autor:
Robin Z. Hayeems, Maria Marano, Julia Orkin, David Chitayat, Roberto Mendoza-Londono, D James Stavropoulos, Christian R. Marshall, Ronald D. Cohn, Danielle Veenma, Bhooma Thiruvahindrapuram, Stephanie Luca, M. Stephen Meyn, Susan Walker, Danielle Arje, Stephen W. Scherer, Gregory Costain, Ryan K. C. Yuen, Eyal Cohen, Meaghan Snell, Jason Buera, Meredith Curtis, Miriam S Reuter, Wilson W L Sung, Brett Trost
Publikováno v:
JAMA Network Open
Key Points Question What is the diagnostic yield of genome sequencing in children with unexplained medical complexity and prior negative results of genetic testing? Findings In this cohort study that included 138 individuals from 49 families, genome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72d36b3f12f353d546d203f778542f81
https://doi.org/10.1001/jamanetworkopen.2020.18109
https://doi.org/10.1001/jamanetworkopen.2020.18109
Autor:
Robin Z. Hayeems, Ronald D. Cohn, Michael Brudno, Jasmin Bhawra, Iris Cohn, Cheryl Shuman, Kate Tsiplova, Sarah Bowdin, Marta Girdea, Raveen K. Basran, Shinya Ito, Wendy J. Ungar, Stephen W. Scherer, D James Stavropoulos, Christian R. Marshall, Courtney Hum, M. Stephen Meyn, Nasim Monfared
The clinical use of whole-genome sequencing (WGS) is expected to alter pediatric medical management. The study aimed to describe the type and cost of healthcare activities following pediatric WGS compared to chromosome microarray (CMA). Healthcare ac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc42a94720f4239e631916fe387bc241
https://europepmc.org/articles/PMC5865210/
https://europepmc.org/articles/PMC5865210/
Publikováno v:
JAMA neurology. 74(11)
Importance Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. Objectives To evaluate the prevalence of pathogenic CNVs and identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d28b80c10df4cad2a024917723ecbd86
https://pubmed.ncbi.nlm.nih.gov/28846756
https://pubmed.ncbi.nlm.nih.gov/28846756
Autor:
Sureni V. Mullegama, Lisa G. Shaffer, Robert E. Pyatt, Sara Halbach, James F. Gusella, Sarah H. Elsea, Roberto Mendoza-Londono, Elyse Mitchell, Jonathan Zonana, D James Stavropoulos, Elena A. Repnikova, Jennelle C. Hodge, Lucie Dupuis, Darrel Waggoner, Stuart Schwartz, Chumei Li, Bert B.A. de Vries, Carmen Orellana, Kory Keller, Kandamurugu Manickam, Lauren Brick, Swaroop Aradhya, Mónica Roselló, Michael E. Talkowski, Angela E. Lin, Bregje W.M. van Bon, Jill A. Rosenfeld
Publikováno v:
European Journal of Human Genetics, 22, 1, pp. 57-63
European Journal of Human Genetics, 22, 57-63
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
European Journal of Human Genetics, 22, 57-63
EUROPEAN JOURNAL OF HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Item does not contain fulltext Copy number variations associated with abnormal gene dosage have an important role in the genetic etiology of many neurodevelopmental disorders, including intellectual disability (ID) and autism. We hypothesize that the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c4e360622fe4771cb3b01cc40dd0987
https://hdl.handle.net/2066/136667
https://hdl.handle.net/2066/136667