Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome

by John W. Belmont
Published 2022-09-01

Interaction between SNPs in the RXRA and near ANGPTL3 gene region inhibits apoB reduction after statin-fenofibric acid therapy in individuals with mixed dyslipidemia

by Li Ma, Christie M. Ballantyne, John W. Belmont, Alon Keinan, Ariel Brautbar
Published 2012-11-01

Analysis of East Asia genetic substructure using genome-wide SNP arrays.

by Chao Tian, Roman Kosoy, Annette Lee, Michael Ransom, John W Belmont, Peter K Gregersen, Michael F Seldin
Published 2008-01-01

The diagnostic trajectory of infants and children with clinical features of genetic disease

by Brock E. Schroeder, Nina Gonzaludo, Katie Everson, Kyi-Sin Than, Jeff Sullivan, Ryan J. Taft, John W. Belmont
Published 2021-11-01

European population substructure: clustering of northern and southern populations.

by Michael F Seldin, Russell Shigeta, Pablo Villoslada, Carlo Selmi, Jaakko Tuomilehto, Gabriel Silva, John W Belmont, Lars Klareskog, Peter K Gregersen
Published 2006-09-01

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

Clinical utility of genomic sequencing: a measurement toolkit

by Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan Ashley, Medical Genome Initiative
Published 2020-12-01

Low levels of genetic divergence across geographically and linguistically diverse populations from India.

by Noah A Rosenberg, Saurabh Mahajan, Catalina Gonzalez-Quevedo, Michael G B Blum, Laura Nino-Rosales, Vasiliki Ninis, Parimal Das, Madhuri Hegde, Laura Molinari, Gladys Zapata, James L Weber, John W Belmont, Pragna I Patel
Published 2006-12-01

Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections--A Prospective Cohort Study.

by Yijie Zhai, Luis M Franco, Robert L Atmar, John M Quarles, Nancy Arden, Kristine L Bucasas, Janet M Wells, Diane Niño, Xueqing Wang, Gladys E Zapata, Chad A Shaw, John W Belmont, Robert B Couch
Published 2015-06-01

Integrative genomic analysis of the human immune response to influenza vaccination

by Luis M Franco, Kristine L Bucasas, Janet M Wells, Diane Niño, Xueqing Wang, Gladys E Zapata, Nancy Arden, Alexander Renwick, Peng Yu, John M Quarles, Molly S Bray, Robert B Couch, John W Belmont, Chad A Shaw
Published 2013-07-01

Correction: Integrative genomic analysis of the human immune response to influenza vaccination

by Luis M Franco, Kristine L Bucasas, Janet M Wells, Diane Niño, Xueqing Wang, Gladys E Zapata, Nancy Arden, Alexander Renwick, Peng Yu, John M Quarles, Molly S Bray, Robert B Couch, John W Belmont, Chad A Shaw
Published 2016-08-01

Edematous severe acute malnutrition is characterized by hypomethylation of DNA

by Katharina V. Schulze, Shanker Swaminathan, Sharon Howell, Aarti Jajoo, Natasha C. Lie, Orgen Brown, Roa Sadat, Nancy Hall, Liang Zhao, Kwesi Marshall, Thaddaeus May, Marvin E. Reid, Carolyn Taylor-Bryan, Xueqing Wang, John W. Belmont, Yongtao Guan, Mark J. Manary, Indi Trehan, Colin A. McKenzie, Neil A. Hanchard
Published 2019-12-01

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.

by Shao-Qing Kuang, Dong-Chuan Guo, Siddharth K Prakash, Merry-Lynn N McDonald, Ralph J Johnson, Min Wang, Ellen S Regalado, Ludivine Russell, Jiu-Mei Cao, Callie Kwartler, Kurt Fraivillig, Joseph S Coselli, Hazim J Safi, Anthony L Estrera, Suzanne M Leal, Scott A LeMaire, John W Belmont, Dianna M Milewicz, GenTAC Investigators
Published 2011-06-01

Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome

by Claudia M. B. Carvalho, Zeynep Coban-Akdemir, Hadia Hijazi, Bo Yuan, Matthew Pendleton, Eoghan Harrington, John Beaulaurier, Sissel Juul, Daniel J. Turner, Rupa S. Kanchi, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Baylor-Hopkins Center for Mendelian Genomics, Pawel Stankiewicz, John W. Belmont, Chad A. Shaw, Sau Wai Cheung, Neil A. Hanchard, V. Reid Sutton, Patricia I. Bader, James R. Lupski
Published 2019-04-01

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

by Alexander H. Li, Neil A. Hanchard, Dieter Furthner, Susan Fernbach, Mahshid Azamian, Annarita Nicosia, Jill Rosenfeld, Donna Muzny, Lisa C. A. D’Alessandro, Shaine Morris, Shalini Jhangiani, Dhaval R. Parekh, Wayne J. Franklin, Mark Lewin, Jeffrey A. Towbin, Daniel J. Penny, Charles D. Fraser, James F. Martin, Christine Eng, James R. Lupski, Richard A. Gibbs, Eric Boerwinkle, John W. Belmont
Published 2017-10-01

Best practices for the interpretation and reporting of clinical whole genome sequencing

by Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative*
Published 2022-04-01

Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders

by Bret L. Bostwick, Scott McLean, Jennifer E. Posey, Haley E. Streff, Karen W. Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A. Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K. Grange, Marisa V. Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L. Jefferies, Members of the Undiagnosed Diseases Network, Jill A. Rosenfeld, Lisa Emrick, Kimberly M. Nugent, James R. Lupski, John W. Belmont, Brendan Lee, Seema R. Lalani
Published 2017-08-01