De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

Autor: Jonathan A. Bernstein, Leah J. Rowe, Kimberly Foss, Samin A. Sajan, Kun Xia, Juliane Hoyer, Anita E. Beck, Shayna Svihovec, Vincent Gatinois, Lance H. Rodan, Roksana Sasanfar, Christiane Zweier, Alban Ziegler, Sonal Mahida, Kristin G. Monaghan, Charlotte W. Ockeloen, André Reis, Milen Velinov, Janson White, Evan E. Eichler, Nasim Vasli, Jennifer Friedman, Constance Smith-Hicks, Gilles Morin, Rachel Westman, Sandra Yang, Joshua Scheck, Christian Thiel, John B. Vincent, Deborah A. Nickerson, Michelle E. Ernst, Jacqueline Harris, Natasha Zeid, Bernt Popp, Francesca Mattioli, Zehra Agha, Ellen van Binsbergen, Julian A. Martinez-Agosto, Karen W. Gripp, Gwenaël Le Guyader, Catherine Vincent-Delorme, Lori-Anne Schillaci, Jennefer N. Kohler, Kimberly A. Aldinger, Laurence J. Walsh, Jessica X. Chong, David Geneviève, Rami Abou Jamra, Amy Yang, Cigdem I. Akman, Sha Tang, Ricardo Harripaul, Rick Person, Marleen Simon, Hui Guo, Muhammad Ayub, Laura S. Farach, Patricia Blanchet, Austin Larson, Marie Vincent, Luis Rohena, Michael J. Bamshad, Raheel Qamar, Gregory M. Enns, Joshua Rotenberg, Katelyn Payne, William J. Sunderland, Anne C.-H. Tsai, Annika M. Dries, Michèle Mathieu-Dramard, Dominique Bonneau, Ghayda M. Mirzaa, Bénédicte Gérard, Elise Schaefer, Amélie Piton, Patricia G Wheeler

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics
Genetics in Medicine
Genetics in Medicine, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (3), pp.538-546. ⟨10.1038/s41436-019-0693-9⟩
Genetics in Medicine, 22, 538-546
Genetics in Medicine, 22, 3, pp. 538-546

Contains fulltext : 218267.pdf (Publisher’s version ) (Closed access) PURPOSE: Intellectual disability (ID) and autism spectrum disorder (ASD) are genetically heterogeneous neurodevelopmental disorders. We sought to delineate the clinical, molecula

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9f3e30c4e22e927d1381e056b7dcbef
http://europepmc.org/articles/PMC7060121

Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

Autor: Samin A Sajan, Liliana Fernandez, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Mari Wakahiro, Susan L Christian, Jean-Baptiste Rivière, Christopher T Sullivan, Jyotsna Sudi, Michael J Herriges, Alexander R Paciorkowski, A James Barkovich, Joseph T Glessner, Kathleen J Millen, Hakon Hakonarson, William B Dobyns, Elliott H Sherr

Publikováno v: PLoS Genetics, Vol 9, Iss 10, p e1003823 (2013)

Agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG) are severe congenital brain malformations with largely undiscovered causes. We conducted a large-scale chromosomal copy number variation (CNV) discovery eff

Externí odkaz: https://doaj.org/article/38bc6373d53e49c3b54ea00de1a412d8

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Autor: Honey Nagakura, Katherine L. Helbig, Samin A. Sajan, Zöe Powis, LaDonna Immken, Wendy Alcaraz, Sha Tang

Publikováno v: Clinical Case Reports

Key Clinical Message Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54593313f0ab00e04bb91e5b997bac53
http://europepmc.org/articles/PMC6028413

Large scale gene expression profiles of regenerating inner ear sensory epithelia.

Autor: R David Hawkins, Stavros Bashiardes, Kara E Powder, Samin A Sajan, Veena Bhonagiri, David M Alvarado, Judith Speck, Mark E Warchol, Michael Lovett

Publikováno v: PLoS ONE, Vol 2, Iss 6, p e525 (2007)

Loss of inner ear sensory hair cells (HC) is a leading cause of human hearing loss and balance disorders. Unlike mammals, many lower vertebrates can regenerate these cells. We used cross-species microarrays to examine this process in the avian inner

Externí odkaz: https://doaj.org/article/c6f39d60eac74b3883722a932ff59fec

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Autor: Deepali N. Shinde, Elizabeth C. Chao, Kelly Radtke, Sitao Wu, Zöe Powis, Mari Rossi, Shuwei Li, Katherine L. Helbig, Samin A. Sajan, Cameron Mroske, Hsiao-Mei Lu, Mark E. Nunes, Kelly D. Farwell Hagman, Sha Tang, Wendy Alcaraz, Dima El-Khechen, Layla Shahmirzadi, Robert Huether, Erica D. Smith

Publikováno v: Genetics in Medicine. 19:224-235

Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a4a10372d0a09aee19cef830739f4a8f
https://doi.org/10.1038/gim.2016.95