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

por Boscarino, Cathy, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Li, Weili, Thiruvahindrapuram, Bhooma, Merico, Daniele
Publicado 2019

A New Sturgeon Herpesvirus from Juvenile Lake Sturgeon Acipenser fulvescens Displaying Epithelial Skin Lesions

por Clouthier, Sharon, Tomczyk, Marek, Schroeder, Tamara, Klassen, Cheryl, Dufresne, André, Emmenegger, Eveline, Nalpathamkalam, Thomas, Wang, Zhuozhi, Thiruvahindrapuram, Bhooma
Publicado 2023

Retrotransposon insertion as a novel mutational event in Bardet‐Biedl syndrome

por Tavares, Erika, Tang, Chen Yu, Vig, Anjali, Li, Shuning, Billingsley, Gail, Sung, Wilson, Vincent, Ajoy, Thiruvahindrapuram, Bhooma, Héon, Elise
Publicado 2018

Novel Population Specific Autosomal Copy Number Variation and Its Functional Analysis amongst Negritos from Peninsular Malaysia

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

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing

por Walker, Susan, Dad, Rubina, Thiruvahindrapuram, Bhooma, Ullah, Muhammed Ikram, Ahmad, Arsalan, Hassan, Muhammad Jawad, Scherer, Stephen W., Minassian, Berge A.
Publicado 2018

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

por Dinur Schejter, Yael, Ovadia, Adi, Alexandrova, Roumiana, Thiruvahindrapuram, Bhooma, Pereira, Sergio L., Manson, David E., Vincent, Ajoy, Merico, Daniele, Roifman, Chaim M.
Publicado 2017

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

por Frenkel, Svetlana, Bernstein, Charles N., Sargent, Michael, Kuang, Qin, Jiang, Wenxin, Wei, John, Thiruvahindrapuram, Bhooma, Spriggs, Elizabeth, Scherer, Stephen W., Hu, Pingzhao
Publicado 2019

Polygenic risk for triglyceride levels in the presence of a high impact rare variant

por Ying, Shengjie, Heung, Tracy, Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Yin, Yue, Blagojevic, Christina, Zhang, Zhaolei, Hegele, Robert A., Yuen, Ryan K. C., Bassett, Anne S.
Publicado 2023

Correction: Polygenic risk for triglyceride levels in the presence of a high impact rare variant

por Ying, Shengjie, Heung, Tracy, Thiruvahindrapuram, Bhooma, Engchuan, Worrawat, Yin, Yue, Blagojevic, Christina, Zhang, Zhaolei, Hegele, Robert A., Yuen, Ryan K. C., Bassett, Anne S.
Publicado 2023

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

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

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

por Frenkel, Svetlana, Bernstein, Charles N., Jin, Yong Won, Sargent, Michael, Kuang, Qin, Jiang, Wenxin, Wei, John, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Hu, Pingzhao
Publicado 2019

Characterization of pharmacogenomic variants in a Brazilian admixed cohort of elderly individuals based on whole-genome sequencing data

por Bertholim-Nasciben, Luciana, Scliar, Marilia O., Debortoli, Guilherme, Thiruvahindrapuram, Bhooma, Scherer, Stephen W., Duarte, Yeda A. O., Zatz, Mayana, Suarez-Kurtz, Guilherme, Parra, Esteban J., Naslavsky, Michel S.
Publicado 2023

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

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

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage

por Dale, Breanne, Modi, Bonnie MacKinnon, Jilderda, Sanne, McConnell, Beth, Hoang, Ny, Swaroop, Pooja, Falcon, Jhoan, Thiruvahindrapuram, Bhooma, Walker, Susan, Scherer, Stephen W., Stavropoulos, D. James, Drmic, Irene E., Carter, Melissa T.
Publicado 2017

A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

por Prasad, Aparna, Merico, Daniele, Thiruvahindrapuram, Bhooma, Wei, John, Lionel, Anath C., Sato, Daisuke, Rickaby, Jessica, Lu, Chao, Szatmari, Peter, Roberts, Wendy, Fernandez, Bridget A., Marshall, Christian R., Hatchwell, Eli, Eis, Peggy S., Scherer, Stephen W.
Publicado 2012

Copy number variation in Han Chinese individuals with autism spectrum disorder

por Gazzellone, Matthew J, Zhou, Xue, Lionel, Anath C, Uddin, Mohammed, Thiruvahindrapuram, Bhooma, Liang, Shuang, Sun, Caihong, Wang, Jia, Zou, Mingyang, Tammimies, Kristiina, Walker, Susan, Selvanayagam, Thanuja, Wei, John, Wang, Zhuozhi, Wu, Lijie, Scherer, Stephen W
Publicado 2014

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

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

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

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

Clinically relevant copy number variations detected in cerebral palsy

por Oskoui, Maryam, Gazzellone, Matthew J., Thiruvahindrapuram, Bhooma, Zarrei, Mehdi, Andersen, John, Wei, John, Wang, Zhuozhi, Wintle, Richard F., Marshall, Christian R., Cohn, Ronald D., Weksberg, Rosanna, Stavropoulos, Dimitri J., Fehlings, Darcy, Shevell, Michael I., Scherer, Stephen W.
Publicado 2015

Disruption of DDX53 coding sequence has limited impact on iPSC-derived human NGN2 neurons

por Faheem, Muhammad, Deneault, Eric, Alexandrova, Roumiana, Rodrigues, Deivid C., Pellecchia, Giovanna, Shum, Carole, Zarrei, Mehdi, Piekna, Alina, Wei, Wei, Howe, Jennifer L., Thiruvahindrapuram, Bhooma, Lamoureux, Sylvia, Ross, P. Joel, Bradley, Clarrisa A., Ellis, James, Scherer, Stephen W.
Publicado 2023