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

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

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

by 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
Published 2017

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

by 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
Published 2021

Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

by Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Anne-Karin Kahlert, Alejandro Sifrim, Florian Wünnemann, Yasset Perez-Riverol, Hashim Abdul-Khaliq, Mads Bak, Anne S Bassett, D Woodrow Benson, Felix Berger, Ingo Daehnert, Koenraad Devriendt, Sven Dittrich, Piers Ef Daubeney, Vidu Garg, Karl Hackmann, Kirstin Hoff, Philipp Hofmann, Gregor Dombrowsky, Thomas Pickardt, Ulrike Bauer, Bernard D Keavney, Sabine Klaassen, Hans-Heiner Kramer, Christian R Marshall, Dianna M Milewicz, Scott Lemaire, Joseph S Coselli, Michael E Mitchell, Aoy Tomita-Mitchell, Siddharth K Prakash, Karl Stamm, Alexandre F R Stewart, Candice K Silversides, Reiner Siebert, Brigitte Stiller, Jill A Rosenfeld, Inga Vater, Alex V Postma, Almuth Caliebe, J David Brook, Gregor Andelfinger, Matthew E Hurles, Bernard Thienpont, Lars Allan Larsen, Marc-Phillip Hitz
Published 2021