Remarkable sequence signatures in archaeal genomes

by Ahmed Fadiel, Stuart Lithwick, Gopi Ganji, Stephen W. Scherer
Published 2003-01-01

An Epigenetically Distinct Subset of Children With Autism Spectrum Disorder Resulting From Differences in Blood Cell Composition

by Maryam Jangjoo, Sarah J. Goodman, Sanaa Choufani, Brett Trost, Brett Trost, Stephen W. Scherer, Stephen W. Scherer, Stephen W. Scherer, Stephen W. Scherer, Elizabeth Kelley, Muhammad Ayub, Rob Nicolson, Stelios Georgiades, Jennifer Crosbie, Jennifer Crosbie, Russell Schachar, Russell Schachar, Russell Schachar, Evdokia Anagnostou, Evdokia Anagnostou, Eyal Grunebaum, Eyal Grunebaum, Eyal Grunebaum, Rosanna Weksberg, Rosanna Weksberg, Rosanna Weksberg, Rosanna Weksberg, Rosanna Weksberg
Published 2021-04-01

SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report.

by Xavier Estivill, Nancy J Cox, Stephen J Chanock, Pui-Yan Kwok, Stephen W Scherer, Anthony J Brookes
Published 2008-04-01

Modeling neuronal consequences of autism-associated gene regulatory variants with human induced pluripotent stem cells

by P. Joel Ross, Rebecca S. F. Mok, Brandon S. Smith, Deivid C. Rodrigues, Marat Mufteev, Stephen W. Scherer, James Ellis
Published 2020-05-01

Ancestry and frequency of genetic variants in the general population are confounders in the characterization of germline variants linked to cancer

by Anna Bobyn, Mehdi Zarrei, Yuankun Zhu, Mary Hoffman, Darren Brenner, Adam C. Resnick, Stephen W. Scherer, Marco Gallo
Published 2020-05-01

Association between distress and knowledge among parents of autistic children.

by Afiqah Yusuf, Iskra Peltekova, Tal Savion-Lemieux, Jennifer Frei, Ruth Bruno, Ridha Joober, Jennifer Howe, Stephen W Scherer, Mayada Elsabbagh
Published 2019-01-01

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

by Siti Shuhada Mokhtar, Christian R Marshall, Maude E Phipps, Bhooma Thiruvahindrapuram, Anath C Lionel, Stephen W Scherer, Hoh Boon Peng
Published 2014-01-01

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

by Lars Feuk, Jeffrey R MacDonald, Terence Tang, Andrew R Carson, Martin Li, Girish Rao, Razi Khaja, Stephen W Scherer
Published 2005-10-01

Genome-wide analysis identifies rare copy number variations associated with inflammatory bowel disease.

by Svetlana Frenkel, Charles N Bernstein, Michael Sargent, Qin Kuang, Wenxin Jiang, John Wei, Bhooma Thiruvahindrapuram, Elizabeth Spriggs, Stephen W Scherer, Pingzhao Hu
Published 2019-01-01

Genome-wide copy number variant data for inflammatory bowel disease in a caucasian population

by Svetlana Frenkel, Charles N. Bernstein, Yong Won Jin, Michael Sargent, Qin Kuang, Wenxin Jiang, John Wei, Bhooma Thiruvahindrapuram, Stephen W. Scherer, Pingzhao Hu
Published 2019-08-01

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy.

by Hoh Boon-Peng, Julia Ashazila Mat Jusoh, Christian R Marshall, Fadhlina Majid, Norlaila Danuri, Fashieha Basir, Bhooma Thiruvahindrapuram, Stephen W Scherer, Khalid Yusoff
Published 2016-01-01

Contribution of Multiple Inherited Variants to Autism Spectrum Disorder (ASD) in a Family with 3 Affected Siblings

by Jasleen Dhaliwal, Ying Qiao, Kristina Calli, Sally Martell, Simone Race, Chieko Chijiwa, Armansa Glodjo, Steven Jones, Evica Rajcan-Separovic, Stephen W. Scherer, Suzanne Lewis
Published 2021-07-01

Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.

by Nancy J Butcher, Daniele Merico, Mehdi Zarrei, Lucas Ogura, Christian R Marshall, Eva W C Chow, Anthony E Lang, Stephen W Scherer, Anne S Bassett
Published 2017-01-01

Editorial: Secondary vs. Idiopathic Autism

by Manuel F. Casanova, Emily L. Casanova, Richard Eugene Frye, Carolina Baeza-Velasco, Janine M. LaSalle, Randi Jensen Hagerman, Stephen W. Scherer, Marvin R. Natowicz
Published 2020-04-01

Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences

by Roozbeh Manshaei, Daniele Merico, Daniele Merico, Miriam S. Reuter, Miriam S. Reuter, Worrawat Engchuan, Bahareh A. Mojarad, Rajiv Chaturvedi, Rajiv Chaturvedi, Tracy Heung, Tracy Heung, Giovanna Pellecchia, Mehdi Zarrei, Mehdi Zarrei, Thomas Nalpathamkalam, Reem Khan, John B. A. Okello, Eriskay Liston, Meredith Curtis, Ryan K. C. Yuen, Ryan K. C. Yuen, Ryan K. C. Yuen, Christian R. Marshall, Christian R. Marshall, Christian R. Marshall, Christian R. Marshall, Rebekah K. Jobling, Rebekah K. Jobling, Erwin Oechslin, Rachel M. Wald, Rachel M. Wald, Candice K. Silversides, Stephen W. Scherer, Stephen W. Scherer, Stephen W. Scherer, Stephen W. Scherer, Raymond H. Kim, Raymond H. Kim, Raymond H. Kim, Anne S. Bassett, Anne S. Bassett, Anne S. Bassett, Anne S. Bassett, Anne S. Bassett
Published 2020-09-01

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

by Candice K Silversides, Anath C Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R Marshall, Stephen W Scherer, Anne S Bassett
Published 2012-01-01

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

by 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
Published 2013-06-01

Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

by Chelsea Lowther, Daniele Merico, Gregory Costain, Jack Waserman, Kerry Boyd, Abdul Noor, Marsha Speevak, Dimitri J. Stavropoulos, John Wei, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett
Published 2017-11-01

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

by 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
Published 2017-05-01

A genome-wide linkage study of autism spectrum disorder and the broad autism phenotype in extended pedigrees

by Marc Woodbury-Smith, Andrew D. Paterson, Irene O’Connor, Mehdi Zarrei, Ryan K. C. Yuen, Jennifer L Howe, Ann Thompson, Morgan Parlier, Bridget Fernandez, Joseph Piven, Stephen W. Scherer, Veronica Vieland, Peter Szatmari
Published 2018-06-01