J
John W. Belmont
Researcher at Baylor College of Medicine
Publications - 284
Citations - 42331
John W. Belmont is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Population & Gene. The author has an hindex of 76, co-authored 273 publications receiving 39393 citations. Previous affiliations of John W. Belmont include Boston Children's Hospital & University of Texas MD Anderson Cancer Center.
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Journal ArticleDOI
TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities
Wojciech Wiszniewski,Jill V. Hunter,Neil A. Hanchard,Jason R. Willer,Chad A. Shaw,Qi Tian,Anna Illner,Xueqing Wang,Sau Wai Cheung,Ankita Patel,Ian M. Campbell,Violet Gelowani,Patricia Hixson,Audrey R. Ester,Mahshid S. Azamian,Lorraine Potocki,Gladys Zapata,Patricia P. Hernandez,Melissa B. Ramocki,Regie Lyn P. Santos-Cortez,Gao Wang,Michele K. York,Monica J. Justice,Zili D. Chu,Patricia I. Bader,Lisa Omo-Griffith,Nirupama S. Madduri,Gunter Scharer,Heather P. Crawford,Pattamawadee Yanatatsaneejit,Anna Eifert,Jeffery Kerr,Carlos A. Bacino,Adiaha I.A. Franklin,Robin P. Goin-Kochel,Gayle Simpson,LaDonna Immken,Muhammad E Haque,Marija Stosic,M. Williams,Thomas M. Morgan,Sumit Pruthi,Reed A. Omary,Simeon A. Boyadjiev,Kay K. Win,Aye Thida,Matthew E. Hurles,Martin L. Hibberd,Chiea Chuen Khor,Nguyen Van Vinh Chau,Thomas E. Gallagher,Apiwat Mutirangura,Pawel Stankiewicz,Arthur L. Beaudet,Mirjana Maletic-Savatic,Jill A. Rosenfeld,Lisa G. Shaffer,Erica E. Davis,John W. Belmont,Sarah J. Dunstan,Cameron P. Simmons,Penelope E. Bonnen,Suzanne M. Leal,Nicholas Katsanis,James R. Lupski,Seema R. Lalani +65 more
TL;DR: The data point to a constellation of early language delay and WMH phenotypes, driven by a likely toxic mechanism of TM4SF20 truncation, and highlight the importance of understanding and managing population-specific low-frequency pathogenic alleles.
Journal ArticleDOI
Delivery of a secretable adenosine deaminase through microcapsules--a novel approach to somatic gene therapy.
Martin John Glenton Hughes,A. Vassilakos,David W. Andrews,Gonzalo Hortelano,John W. Belmont,Patricia L. Chang +5 more
TL;DR: A secretable and functional human ADA has been constructed that can be delivered from recombinant cells within immunoprotective capsules and provides the prototype for engineering nonsecreted gene products for therapy via this novel method of somatic gene therapy.
Journal ArticleDOI
Genetic architecture of laterality defects revealed by whole exome sequencing
Alexander H. Li,Neil A. Hanchard,Mahshid Azamian,Lisa C.A. D'Alessandro,Zeynep H. Coban-Akdemir,Keila N. Lopez,Nancy J. Hall,Heather A. Dickerson,Annarita Nicosia,Susan D. Fernbach,Philip M. Boone,Tomaz Gambin,Ender Karaca,Shen Gu,Bo Yuan,Shalini N. Jhangiani,Harshavardhan Doddapaneni,Jianhong Hu,Huyen Dinh,Joy Jayaseelan,Donna M. Muzny,Seema R. Lalani,Jeffrey A. Towbin,Daniel J. Penny,Charles D. Fraser,Charles D. Fraser,James F. Martin,James R. Lupski,Richard A. Gibbs,Eric Boerwinkle,Eric Boerwinkle,Stephanie M. Ware,John W. Belmont,John W. Belmont +33 more
TL;DR: The genetic spectrum ofberrant left-right patterning in the developing human embryo can lead to a broad spectrum of congenital malformations, and extensive locus heterogeneity and complex genetic models in this class of birth defects are suggested.
Journal ArticleDOI
Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings.
TL;DR: Postmortem examination of the brain in one child disclosed severe neuronal loss in the inferior olives and the pontine nuclei, which may represent a previously undescribed form of familial infantile encephalopathy with olivopontocerebellar hypoplasia.
Journal ArticleDOI
MCTP2 is a dosage sensitive gene required for cardiac outflow tract development
Seema R. Lalani,Stephanie M. Ware,Xueqing Wang,Gladys Zapata,Qi Tian,Luis M. Franco,Zhengxin Jiang,Kristine L. Bucasas,Daryl A. Scott,Philippe M. Campeau,Neil A. Hanchard,Luis A. Umaña,Ashley Cast,Ankita Patel,Sau Wai Cheung,Kim L. McBride,Molly S. Bray,A. Craig Chinault,Barbara A. Boggs,Miao Huang,Mariah R. Baker,Susan L. Hamilton,J.A. Towbin,John L. Jefferies,Susan D. Fernbach,Lorraine Potocki,John W. Belmont +26 more
TL;DR: MCTP2 is identified as a novel genetic cause of CoA and related cardiac malformations and Alteration of Mctp2 gene expression in Xenopus laevis embryos by morpholino knockdown and mRNA overexpression resulted in the failure of proper OT development, confirming the functional importance of this dosage-sensitive gene for cardiogenesis.