Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes

Autor: Ricardo Harripaul, Ansa Rabia, Nasim Vasli, Anna Mikhailov, Ashlyn Rodrigues, Stephen F. Pastore, Tahir Muhammad, Thulasi Thiruvallur Madanagopal, Aisha Hashmi, Clinton Tran, Cassandra Stan, Katherine Aw, Maleeha Azam, Saqib Mahmood, Abolfazl Heidari, Raheel Qamar, Leon French, Shreejoy Tripathy, Zehra Agha, Muhammad Iqbal, Majid Ghadami, Susan L. Santangelo, Bita Bozorgmehr, Laila Al Ayadhi, Roksana Sasanfar, Shazia Maqbool, James A. Knowles, Muhammad Ayub, John B Vincent

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects about 1 in 55 children worldwide, imposing enormous economic and socioemotional burden on families and communities. Genetic studies of ASD have identified de novo copy numbe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b1858ea2087bde6e2e7999a51e2412c7
https://doi.org/10.1101/2021.12.24.21268340

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

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

Autor: Johann Böhm, Nasim Vasli, Marie Maurer, Belinda S Cowling, G Diane Shelton, Wolfram Kress, Anne Toussaint, Ivana Prokic, Ulrike Schara, Thomas James Anderson, Joachim Weis, Laurent Tiret, Jocelyn Laporte

Publikováno v: PLoS Genetics, Vol 9, Iss 6, p e1003430 (2013)

Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly pro

Externí odkaz: https://doaj.org/article/71fae5c4ad8148558d23d0f165d773f4

An integrated diagnosis strategy for congenital myopathies.

Autor: Johann Böhm, Nasim Vasli, Edoardo Malfatti, Stéphanie Le Gras, Claire Feger, Bernard Jost, Nicole Monnier, Julie Brocard, Hatice Karasoy, Marion Gérard, Maggie C Walter, Peter Reilich, Valérie Biancalana, Christine Kretz, Nadia Messaddeq, Isabelle Marty, Joël Lunardi, Norma B Romero, Jocelyn Laporte

Publikováno v: PLoS ONE, Vol 8, Iss 6, p e67527 (2013)

Congenital myopathies are severe muscle disorders affecting adults as well as children in all populations. The diagnosis of congenital myopathies is constrained by strong clinical and genetic heterogeneity. Moreover, the majority of patients present

Externí odkaz: https://doaj.org/article/4268020b6e314b6bb352ee894f5501ad

Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting

Autor: Hussein, Daoud, Mahdi, Ghani, Landry, Nfonsam, Ryan, Potter, Shelley, Ordorica, Virginia, Haslett, Nathaniel, Santos, Heather, Derksen, Donelda, Lahey, Martha, McGill, Vanessa, Trudel, Brittany, Antoniuk, Nasim, Vasli, Caitlin, Chisholm, Gabrielle, Mettler, Elizabeth, Sinclair-Bourque, Jean, McGowan-Jordan, Amanda, Smith, Robert, Roberts, Olga, Jarinova

Publikováno v: The Journal of molecular diagnostics : JMD. 21(3)

Inherited cardiomyopathies (ICs) are a major cause of heart disease. Given their marked clinical and genetic heterogeneity, the content and clinical utility of IC multi-gene panels has been the topic of continuous debate. Our genetics diagnostic labo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e61b3ea320577a422e42839448e64eee
https://pubmed.ncbi.nlm.nih.gov/30731207