John W. Belmont

photo credits: Wikimedia Commons

occupation: researcher

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Articles 169

Date

Title

Authors

2020-03-31

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

Richard A Gibbs, Jennifer E. Posey, Seema R Lalani, Tomasz Gambin, James R. Lupski, Donna Muzny, Yaping Yang, John W. Belmont, Mahshid S Azamian, Zeynep Coban Akdemir, Fatima M Boricha, Gladys Zapata, Shalini Jhangiani, Harsha Vardhan Doddapaneni, Eric Boerwinkle
2019-03-01

A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers

Timo Lassmann, Deborah Jg Mackay, Karen Temple, Kym M Boycott, John W. Belmont
2019-04-23

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

Cláudia M B Carvalho, James R. Lupski, Richard A Gibbs, Donna Muzny, John W. Belmont, Pawel Stankiewicz, Chad Shaw, Patricia I Bader, Sau Wai Cheung, Zeynep Coban Akdemir, Baylor-Hopkins Center for Mendelian Genomics, Vernon Reid Sutton, Shalini Jhangiani
2019-01-08

Genetic architecture of laterality defects revealed by whole exome sequencing

Tomasz Gambin, Shen Gu, James R. Lupski, Richard A Gibbs, Donna Muzny, John W. Belmont, Seema R Lalani, Mahshid S Azamian, Jeffrey A Towbin, Philip M. Boone, Zeynep Coban Akdemir, Shalini Jhangiani, Susan D Fernbach, Eric Boerwinkle, Ender Karaca, Annarita Nicosia
2019-09-01

Correction: Estimating the burden and economic impact of pediatric genetic disease

John W. Belmont
2019-12-19

Edematous severe acute malnutrition is characterized by hypomethylation of DNA

Katharina V Schulze, John W. Belmont, Indi Trehan, Neil A Hanchard
2019-04-17

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy

Katharina V Schulze, Nathan C Sundgren, John W. Belmont, Karin A. Fox
2018-10-08

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

Michael Eberle, John W. Belmont
2018-03-21

Microdeletions excludingYWHAEandPAFAH1B1cause a unique leukoencephalopathy and hypermobility syndrome: Further delineation of the 17p13.3 microdeletion spectrum

John W. Belmont
2018-09-15

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

Xia Wang, Jennifer E. Posey, Jill A Rosenfeld, Brett H Graham, Undiagnosed Diseases Network, James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, John W. Belmont, Francesco Vetrini, Carlos A Bacino, Fernando Scaglia, Zeynep Coban Akdemir, Mohammad K Eldomery, Davut Pehlivan, Magdalena A Walkiewicz, Magalie S Leduc
2018-12-20

Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum.

Undiagnosed Diseases Network, John W. Belmont
2018-05-10

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

Svein I Støve, Klaas J. Wierenga, Thomas Arnesen, James R. Lupski, John W. Belmont, Asbjørg Stray-Pedersen, Zeynep Coban Akdemir, Shalini Jhangiani
2018-12-20

Estimating the burden and economic impact of pediatric genetic disease

John W. Belmont
2018-12-19

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature

Hsiao-Tuan Chao, Undiagnosed Diseases Network, John W. Belmont
2017-03-01

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation

Donna Muzny, Claudia Gonzaga-Jauregui, Philippe M. Campeau, James R. Lupski, Richard A Gibbs, John W. Belmont, Seema R Lalani, Mahshid S Azamian, Vernon Reid Sutton, Shalini Jhangiani, Susan D Fernbach
2017-03-21

Lessons learned from additional research analyses of unsolved clinical exome cases

Tomasz Gambin, Sébastien Küry, Davor Lessel, Michael F. Wangler, Jennifer E. Posey, James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, John W. Belmont, Seema R Lalani, Jill A Rosenfeld, Carlos A Bacino, Brett H Graham, Fernando Scaglia, Arthur L Beaudet, Theodore Chiang, Mohammad K Eldomery, Asbjørg Stray-Pedersen, Tamar Harel, Zeynep Coban Akdemir, Vernon Reid Sutton, Wojciech Wiszniewski, Shalini Jhangiani, Jordan Orange, Harsha Vardhan Doddapaneni, Sharon E Plon, Eric Boerwinkle
2017-08-14

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

Bret Bostwick, Jennifer E. Posey, Xia Wang, Marisa A Vineyard, Karol Miszalski-Jamka, James R. Lupski, Yaping Yang, John W. Belmont, Dorothy K Grange, Louanne Hudgins, Seema R Lalani, Jill A Rosenfeld, Zeynep Coban Akdemir, Marybeth Hummel, Magdalena A Walkiewicz, Karen Gripp
2017-10-31

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

Shaine A. Morris, Eric Boerwinkle, Jeffrey A Towbin, James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, John W. Belmont, Jill A Rosenfeld, Mahshid S Azamian, Shalini Jhangiani, Dieter Furthner, Susan D Fernbach, Dhaval R Parekh, Annarita Nicosia
2017-12-04

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management

Avinash V Dharmadhikari, Xia Wang, James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, John W. Belmont, Francesco Vetrini, Seema R Lalani, Daryl A. Scott, Mahshid S Azamian, Carlos A Bacino, Brett H Graham, Michael F. Wangler, Chad Shaw, Fernando Scaglia, Arthur L Beaudet, Theodore Chiang, Alicia M Braxton, Sharon E Plon, Magdalena A Walkiewicz, Magalie S Leduc
2017-06-27

Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.

Shaine A. Morris, Kim L. McBride, Luis A Umana, Sara Fitzgerald-Butt, Jeffrey A Towbin, John W. Belmont
2016-09-22

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene

Tomasz Gambin, Mir Reza Bekheirnia, Nasim Bekheirnia, Shen Gu, Mini Michael, Eileen D Brewer, Ewa Elenberg, Alyssa Riley, Sarah J Swartz, Daryl A. Scott, Scott E Wenderfer, Joann N Bodurtha, Carolyn D Applegate, Angela Myers, Jill A Rosenfeld, Richard A Lewis, David R Roth, Michael C Braun, Dolores J Lamb, James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, John W. Belmont, Shalini Jhangiani
2016-05-12

Recommendations for the integration of genomics into clinical practice

Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam, Barbara A Bernhardt, Leslie G Biesecker, Hans Bjornsson, Laurie Demmer, Alison M Elliott, Gail P. Jarvik, Raymond H Kim, Bruce R. Korf, David H. Ledbetter, M Stephen Meyn, Nasim Monfared, Cynthia Morton, Sharon E Plon, Heidi L. Rehm, Nancy B Spinner, Kathleen Valverde, Lucia A Hindorff, John W. Belmont, Louanne Hudgins, A. Micheil Innes
2016-07-16

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Ketil R. Heimdal, Francisco Espinosa-Rosales, William T. Shearer, Emily M. Mace, Tomasz Gambin, Alessandro Aiuti, Diana K Bayer, Eric Boerwinkle, Geir Erland Tjønnfjord, James R. Lupski, Tobias Gedde-Dahl, Tore G Abrahamsen, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, John W. Belmont, Philip M. Boone, Mohammad K Eldomery, Yavuz Bayram, Asbjørg Stray-Pedersen, Zeynep Coban Akdemir, Wojciech Wiszniewski, Shalini Jhangiani, Jordan Orange, Ender Karaca, Magdalena A Walkiewicz, Hasibe Artac
2016-08-30

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

John W. Belmont
2016-12-01

Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

Chad Shaw, John W. Belmont
2016-12-14

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Tomasz Gambin, Donna Muzny, Eric Boerwinkle, Chad Shaw, James R. Lupski, Richard A Gibbs, John W. Belmont, Shalini Jhangiani, Ender Karaca, Arthur L Beaudet, Zeynep Coban Akdemir, Theodore Chiang, Philip M. Boone, Mohammad K Eldomery, Yavuz Bayram, Asbjørg Stray-Pedersen
2016-03-01

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

Eric Boerwinkle, Donna Muzny, James R. Lupski, Richard A Gibbs, Yaping Yang, John W. Belmont, Shalini Jhangiani, Ender Karaca, Jill A Rosenfeld, Mohammad K Eldomery, Yavuz Bayram, Tamar Harel, Zeynep Coban Akdemir, Jill V Hunter, Davut Pehlivan, Baylor-Hopkins Center for Mendelian Genomics, Ayman El-Hattab
2016-07-19

Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young

Donna Muzny, Christine M. Eng, John W. Belmont
2016-07-13

The ethics of conducting molecular autopsies in cases of sudden death in the young

Amy L McGuire, Christine M. Eng, John W. Belmont
2016-09-08

Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans

Jignesh Chandarana, James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, John W. Belmont, Francesco Vetrini, Jill A Rosenfeld, Mahshid S Azamian, Zeynep Coban Akdemir, Mohammad K Eldomery, Tamar Harel, Alicia M Braxton, Shalini Jhangiani
2016-03-09

A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

Henri Justino, Kim L. McBride, Aamir Jeewa, Peter White, Shaine A. Morris, Shoumo Bhattacharya, Mahshid S Azamian, Jeffrey A Towbin, James R. Lupski, John W. Belmont, Bernard Keavney, Judith A Goodship, Seema R Lalani, Gladys Zapata, Dieter Furthner, Susan D Fernbach, Dhaval R Parekh, Heather Cordell, Suzanne M. Leal
2015-07-21

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant

Brett H Graham, Jennifer E. Posey, John W. Belmont

Human - wd:Q30513809

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