Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review

by Whiwon Lee, Gregory Costain, Susan Blaser, Susan Walker, Christian R. Marshall, Hernan Gonorazky, Michal Inbar-Feigenberg
Published 2020-12-01

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

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

Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia

by Bahareh A. Mojarad, Yue Yin, Roozbeh Manshaei, Ian Backstrom, Gregory Costain, Tracy Heung, Daniele Merico, Christian R. Marshall, Anne S. Bassett, Ryan K. C. Yuen
Published 2021-02-01

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

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

The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

by Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi Rehm, on behalf of the Medical Genome Initiative
Published 2020-05-01

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

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 2017-05-01

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

by Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer
Published 2017-11-01

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and HypertriglyceridemiaSummary

by Abdul Elkadri, Cornelia Thoeni, Sophie J. Deharvengt, Ryan Murchie, Conghui Guo, James D. Stavropoulos, Christian R. Marshall, Paul Wales, Robert H.J. Bandsma, Ernest Cutz, Chaim M. Roifman, David Chitayat, Yaron Avitzur, Radu V. Stan, Aleixo M. Muise
Published 2015-07-01

Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

by Gregory Costain, Susan Walker, Bob Argiropoulos, Danielle A. Baribeau, Anne S. Bassett, Erik Boot, Koen Devriendt, Barbara Kellam, Christian R. Marshall, Aparna Prasad, Moises A. Serrano, D. James Stavropoulos, Hope Twede, Joris R. Vermeesch, Jacob A. S. Vorstman, Stephen W. Scherer
Published 2019-02-01

Association and mutation analyses of 16p11.2 autism candidate genes.

by Ravinesh A Kumar, Christian R Marshall, Judith A Badner, Timothy D Babatz, Zohar Mukamel, Kimberly A Aldinger, Jyotsna Sudi, Camille W Brune, Gerald Goh, Samer Karamohamed, James S Sutcliffe, Edwin H Cook, Daniel H Geschwind, William B Dobyns, Stephen W Scherer, Susan L Christian
Published 2009-01-01

Analysis of five deep-sequenced trio-genomes of the Peninsular Malaysia Orang Asli and North Borneo populations

by Lian Deng, Haiyi Lou, Xiaoxi Zhang, Bhooma Thiruvahindrapuram, Dongsheng Lu, Christian R. Marshall, Chang Liu, Bo Xie, Wanxing Xu, Lai-Ping Wong, Chee-Wei Yew, Aghakhanian Farhang, Rick Twee-Hee Ong, Mohammad Zahirul Hoque, Abdul Rahman Thuhairah, Bhak Jong, Maude E. Phipps, Stephen W. Scherer, Yik-Ying Teo, Subbiah Vijay Kumar, Boon-Peng Hoh, Shuhua Xu
Published 2019-11-01

Correction: Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene: NRG3

by Clara Sze-Man Tang, Guo Cheng, Man-Ting So, Benjamin Hon-Kei Yip, Xiao-Ping Miao, Emily Hoi-Man Wong, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, You-Qiang Song, Danny Chan, Kenneth Cheung, Zhen-Wei Yuan, Liu Lei, Patrick Ho-Yu Chung, Xue-Lai Liu, Kenneth Kak-Yuen Wong, Christian R. Marshall, Stephen Scherer, Stacey S. Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2012-05-01

Genome-wide copy number analysis uncovers a new HSCR gene: NRG3.

by Clara Sze-Man Tang, Guo Cheng, Man-Ting So, Benjamin Hon-Kei Yip, Xiao-Ping Miao, Emily Hoi-Man Wong, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, You-Qiang Song, Danny Chan, Kenneth Cheung, Zhen-Wei Yuan, Liu Lei, Patrick Ho-Yu Chung, Xue-Lai Liu, Kenneth Kak-Yuen Wong, Christian R Marshall, Stephen W Scherer, Stacey S Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2012-01-01

Correction: Genome-Wide Copy Number Analysis Uncovers a New HSCR Gene:.

by Clara Sze-Man Tang, Guo Cheng, Man-Ting So, Benjamin Hon-Kei Yip, Xiao-Ping Miao, Emily Hoi-Man Wong, Elly Sau-Wai Ngan, Vincent Chi-Hang Lui, You-Qiang Song, Danny Chan, Kenneth Cheung, Zhen-Wei Yuan, Liu Lei, Patrick Ho-Yu Chung, Xue-Lai Liu, Kenneth Kak-Yuen Wong, Christian R. Marshall, Stephen Scherer, Stacey S. Cherny, Pak-Chung Sham, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2012-05-01

Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder—implications of a copy number variation involving DPP10

by Annisa Shui Lam Mak, Annie Ting Gee Chiu, Gordon Ka Chun Leung, Christopher Chun Yu Mak, Yoyo Wing Yiu Chu, Gary Tsz Kin Mok, Wing Fai Tang, Kelvin Yuen Kwong Chan, Mary Hoi Yin Tang, Elizabeth Tak-Kwong Lau Yim, Kin Wai So, Victoria Qinchen Tao, Cheuk Wing Fung, Virginia Chun Nei Wong, Mohammed Uddin, So Lun Lee, Christian R. Marshall, Stephen W. Scherer, Anita Sik Yau Kan, Brian Hon Yin Chung
Published 2017-06-01