Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing

por Iskra Peltekova, Afiqah Yusuf, Jennifer Frei, Tal Savion‐Lemieux, Ridha Joober, Jennifer Howe, Stephen W. Scherer, Mayada Elsabbagh
Publicado 2021

Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia.

por Siti Shuhada Mokhtar, Christian R Marshall, Maude E Phipps, Bhooma Thiruvahindrapuram, Anath C Lionel, Stephen W Scherer, Hoh Boon Peng
Publicado 2014

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism.

por Hyun Ji Noh, Chris P Ponting, Hannah C Boulding, Stephen Meader, Catalina Betancur, Joseph D Buxbaum, Dalila Pinto, Christian R Marshall, Anath C Lionel, Stephen W Scherer, Caleb Webber
Publicado 2013

Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes

por Marc Woodbury-Smith, Rob Nicolson, Mehdi Zarrei, Ryan K. C. Yuen, Susan Walker, Jennifer Howe, Mohammed Uddin, Ny Hoang, Janet A. Buchanan, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer
Publicado 2017

Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study

por Iris Cohn, Tara A. Paton, Christian R. Marshall, Raveen Basran, Dimitri J. Stavropoulos, Peter N. Ray, Nasim Monfared, Robin Z. Hayeems, M. Stephen Meyn, Sarah Bowdin, Stephen W. Scherer, Ronald D. Cohn, Shinya Ito
Publicado 2017

Single-cell transcriptome identifies molecular subtype of autism spectrum disorder impacted by de novo loss-of-function variants regulating glial cells

por Nasna Nassir, Asma Bankapur, Bisan Samara, Abdulrahman Ali, Awab Ahmed, Ibrahim M. Inuwa, Mehdi Zarrei, Seyed Ali Safizadeh Shabestari, Ammar AlBanna, Jennifer L. Howe, Bakhrom K. Berdiev, Stephen W. Scherer, Marc Woodbury-Smith, Mohammed Uddin
Publicado 2021

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

por Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J. Higginbotham, Bhooma Thiruvahindrapuram, Ori Scott, Jessica Willett-Pachul, Eyal Grunebaum, Julia Upton, Adelle Atkinson, Vy H. D. Kim, Elbay Aliyev, Khalid Fakhro, Stephen W. Scherer, Chaim M. Roifman
Publicado 2021

Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome

por Abigail U. Carbonell, Chang Hoon Cho, Jaafar O. Tindi, Pamela A. Counts, Juliana C. Bates, Hediye Erdjument-Bromage, Svetlana Cvejic, Alana Iaboni, Ifat Kvint, Jenny Rosensaft, Ehud Banne, Evdokia Anagnostou, Thomas A. Neubert, Stephen W. Scherer, Sophie Molholm, Bryen A. Jordan
Publicado 2019

Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh

por Hosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, Md. Atikur Rahaman, K. M. Furkan Uddin, Nasna Nassir, Ghausia Begum, Reem Abdel Hameid, Muhammad Sougatul Islam, Tahrima Arman Tusty, Mohammad Basiruzzaman, Shaoli Sarkar, Mazharul Islam, Sharmin Jahan, Elaine T. Lim, Marc Woodbury-Smith, Dimitri James Stavropoulos, Darren D. O’Rielly, Bakhrom K. Berdeiv, A. H. M. Nurun Nabi, Mohammed Nazmul Ahsan, Stephen W. Scherer, Mohammed Uddin
Publicado 2021

The clinical impact of copy number variants in inherited bone marrow failure syndromes

por Nicolas Waespe, Santhosh Dhanraj, Manju Wahala, Elena Tsangaris, Tom Enbar, Bozana Zlateska, Hongbing Li, Robert J. Klaassen, Conrad V. Fernandez, Geoff D. E. Cuvelier, John K. Wu, Yves D. Pastore, Mariana Silva, Jeffrey H. Lipton, Joseé Brossard, Bruno Michon, Sharon Abish, MacGregor Steele, Roona Sinha, Mark J. Belletrutti, Vicky R. Breakey, Lawrence Jardine, Lisa Goodyear, Liat Kofler, Michaela Cada, Lillian Sung, Mary Shago, Stephen W. Scherer, Yigal Dror
Publicado 2017

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

por Livia O. Loureiro, Jennifer L. Howe, Miriam S. Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D. Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y. S. Lau, Christian R. Marshall, Siddharth Srivastava, Brianna Godlewski, Elizabeth D. Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M. E. Lewis, Peter Szatmari, Clarrisa A. (Lisa) Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W. Scherer
Publicado 2021