Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers

by Cathy Boscarino, Thomas Nalpathamkalam, Giovanna Pellecchia, Weili Li, Bhooma Thiruvahindrapuram, Daniele Merico
Published 2019-02-01

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

Expanding the search for genetic biomarkers of Parkinson's disease into the living brain

by Simon M. Benoit, Hu Xu, Susanne Schmid, Roumiana Alexandrova, Gaganjot Kaur, Bhooma Thiruvahindrapuram, Sergio L. Pereira, Mandar Jog, Matthew O. Hebb
Published 2020-07-01

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

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

by Yael Dinur Schejter, Adi Ovadia, Roumiana Alexandrova, Bhooma Thiruvahindrapuram, Sergio L. Pereira, David E. Manson, Ajoy Vincent, Daniele Merico, Chaim M. Roifman
Published 2017-07-01

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

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

Long-Read Sequencing Improves the Detection of Structural Variations Impacting Complex Non-Coding Elements of the Genome

by Ghausia Begum, Ammar Albanna, Asma Bankapur, Nasna Nassir, Richa Tambi, Bakhrom K. Berdiev, Hosneara Akter, Noushad Karuvantevida, Barbara Kellam, Deena Alhashmi, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Alawi Alsheikh-Ali, Stephen W. Scherer, Mohammed Uddin
Published 2021-02-01

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

by Eric Deneault, Sean H. White, Deivid C. Rodrigues, P. Joel Ross, Muhammad Faheem, Kirill Zaslavsky, Zhuozhi Wang, Roumiana Alexandrova, Giovanna Pellecchia, Wei Wei, Alina Piekna, Gaganjot Kaur, Jennifer L. Howe, Vickie Kwan, Bhooma Thiruvahindrapuram, Susan Walker, Anath C. Lionel, Peter Pasceri, Daniele Merico, Ryan K.C. Yuen, Karun K. Singh, James Ellis, Stephen W. Scherer
Published 2018-11-01

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

A Distributed Whole Genome Sequencing Benchmark Study

by Richard D. Corbett, Robert Eveleigh, Joe Whitney, Namrata Barai, Mathieu Bourgey, Eric Chuah, Joanne Johnson, Richard A. Moore, Neda Moradin, Karen L. Mungall, Sergio Pereira, Miriam S. Reuter, Bhooma Thiruvahindrapuram, Richard F. Wintle, Jiannis Ragoussis, Lisa J. Strug, Jo-Anne Herbrick, Naveed Aziz, Steven J. M. Jones, Mark Lathrop, Stephen W. Scherer, Alfredo Staffa, Andrew J. Mungall
Published 2020-12-01