Publications by authors named "John Belmont"

100Publications

Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.

J Med Genet 2019 12 25;56(12):783-791. Epub 2019 Apr 25.

Illumina Inc, San Diego, California, USA.

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December 2019

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy.

Genet Med 2019 11 17;21(11):2453-2461. Epub 2019 Apr 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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November 2019

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

Cell 2019 03;177(1):32-37

Faculty of Health and Medical Sciences, University of Western Australia Medical School, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Genetic Services of Western Australia, Perth, WA, Australia; Office of Population Health Genomics, Western Australian Department of Health, Perth, WA, Australia.

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March 2019

Estimating the burden and economic impact of pediatric genetic disease.

Genet Med 2019 08 20;21(8):1781-1789. Epub 2018 Dec 20.

Illumina, Inc., 5200 Illumina Way, San Diego, 92122, CA, USA.

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August 2019

Water Load Test in Children with Chronic Abdominal Pain or Obesity Compared with Nonobese Controls.

South Med J 2017 03;110(3):168-171

From the Department of Pediatric Gastroenterology, Louisiana State University, New Orleans, the College of Education, Health, and Human Services, Kent State University, Kent, Ohio, the University of Kansas Medical Center, Kansas City, and the Texas Tech University Health Sciences Center, El Paso.

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March 2017

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

Philos Trans R Soc Lond B Biol Sci 2016 12;371(1710)

Department of Pediatrics and Medical and Molecular Genetics, Herman B Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA

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December 2016

Clinical bioinformatics: emergence of a new laboratory discipline.

Expert Rev Mol Diagn 2016 11 20;16(11):1139-1141. Epub 2016 Oct 20.

b Department of Molecular and Human Genetics, Director of Bioinformatics, Baylor Genetics Laboratories , Baylor College of Medicine , Houston , TX , USA.

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November 2016

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:
Asbjørg Stray-Pedersen Hanne Sørmo Sorte Pubudu Samarakoon Tomasz Gambin Ivan K Chinn Zeynep H Coban Akdemir Hans Christian Erichsen Lisa R Forbes Shen Gu Bo Yuan Shalini N Jhangiani Donna M Muzny Olaug Kristin Rødningen Ying Sheng Sarah K Nicholas Lenora M Noroski Filiz O Seeborg Carla M Davis Debra L Canter Emily M Mace Timothy J Vece Carl E Allen Harshal A Abhyankar Philip M Boone Christine R Beck Wojciech Wiszniewski Børre Fevang Pål Aukrust Geir E Tjønnfjord Tobias Gedde-Dahl Henrik Hjorth-Hansen Ingunn Dybedal Ingvild Nordøy Silje F Jørgensen Tore G Abrahamsen Torstein Øverland Anne Grete Bechensteen Vegard Skogen Liv T N Osnes Mari Ann Kulseth Trine E Prescott Cecilie F Rustad Ketil R Heimdal John W Belmont Nicholas L Rider Javier Chinen Tram N Cao Eric A Smith Maria Soledad Caldirola Liliana Bezrodnik Saul Oswaldo Lugo Reyes Francisco J Espinosa Rosales Nina Denisse Guerrero-Cursaru Luis Alberto Pedroza Cecilia M Poli Jose L Franco Claudia M Trujillo Vargas Juan Carlos Aldave Becerra Nicola Wright Thomas B Issekutz Andrew C Issekutz Jordan Abbott Jason W Caldwell Diana K Bayer Alice Y Chan Alessandro Aiuti Caterina Cancrini Eva Holmberg Christina West Magnus Burstedt Ender Karaca Gözde Yesil Hasibe Artac Yavuz Bayram Mehmed Musa Atik Mohammad K Eldomery Mohammad S Ehlayel Stephen Jolles Berit Flatø Alison A Bertuch I Celine Hanson Victor W Zhang Lee-Jun Wong Jianhong Hu Magdalena Walkiewicz Yaping Yang Christine M Eng Eric Boerwinkle Richard A Gibbs William T Shearer Robert Lyle Jordan S Orange James R Lupski

J Allergy Clin Immunol 2017 01 16;139(1):232-245. Epub 2016 Jul 16.

Baylor-Hopkins Center for Mendelian Genomics of the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Department of Pediatrics, Baylor College of Medicine, and Texas Children's Hospital, Houston, Tex; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Tex; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Tex. Electronic address:

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January 2017

Multi-omic profiles of hepatic metabolism in TPN-fed preterm pigs administered new generation lipid emulsions.

J Lipid Res 2016 09 29;57(9):1696-711. Epub 2016 Jul 29.

United States Department of Agriculture/Agricultural Research Service Children's Nutrition Research Center, Section of Pediatric Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX

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September 2016

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

Am J Hum Genet 2016 Mar;98(3):562-570

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston TX 77030, USA.

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March 2016

Nutritional and Metabolic Biomarkers in Autism Spectrum Disorders: An Exploratory Study.

Integr Med (Encinitas) 2015 Apr;14(2):40-53

Integrative medicine department at the University of Kansas Medical Center (KUMC) in Kansas City, Kansas.

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April 2015

Racial disparities in heterotaxy syndrome.

Birth Defects Res A Clin Mol Teratol 2015 Nov 2;103(11):941-50. Epub 2015 Sep 2.

Baylor College of Medicine, Houston, Texas.

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November 2015

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

Am J Med Genet A 2015 Nov 21;167A(11):2742-7. Epub 2015 Jul 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

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November 2015

Serial fecal microbiota transplantation alters mucosal gene expression in pediatric ulcerative colitis.

Am J Gastroenterol 2015 Apr;110(4):604-6

1] Department of Pathology, Texas Children's Hospital, Houston, Texas, USA [2] Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas, USA.

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April 2015

A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease.

Transfus Med Hemother 2014 Nov 7;41(6):453-61. Epub 2014 Nov 7.

Department of Pathology, Texas Heart Institute, Baylor St. Luke's Medical Center, Houston, TX, USA.

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November 2014

Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology.

Am J Med Genet A 2014 Oct 6;164A(10):2581-91. Epub 2014 Aug 6.

Medical Genetics, MassGeneral Hospital for Children, Boston, Massachusetts; Massachusetts Center for Birth Defects Research and Prevention, Boston, Massachusetts.

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October 2014

Genetic basis of congenital cardiovascular malformations.

Eur J Med Genet 2014 Aug 30;57(8):402-13. Epub 2014 Apr 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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August 2014

Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice.

PLoS One 2014 10;9(4):e94390. Epub 2014 Apr 10.

Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America; Interdepartmental Program in Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, Texas, United States of America.

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December 2014

The phosphatase JKAP/DUSP22 inhibits T-cell receptor signalling and autoimmunity by inactivating Lck.

Nat Commun 2014 Apr 9;5:3618. Epub 2014 Apr 9.

1] Immunology Research Center, National Health Research Institutes, Zhunan 35053, Taiwan [2] Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas 77030, USA.

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April 2014

Headstrong intervention for pediatric migraine headache: a randomized clinical trial.

J Headache Pain 2014 Feb 28;15:12. Epub 2014 Feb 28.

University of Kansas Medical Center, Department of Pediatrics, 3901 Rainbow Boulevard, Kansas City, KS 66160-7330, USA.

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February 2014

Replicative mechanisms for CNV formation are error prone.

Nat Genet 2013 Nov 22;45(11):1319-26. Epub 2013 Sep 22.

1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA. [2] Centro de Pesquisas René Rachou-FIOCRUZ, Belo Horizonte, Brazil.

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November 2013

Integrative genomic analysis of the human immune response to influenza vaccination.

Elife 2013 Jul 16;2:e00299. Epub 2013 Jul 16.

Department of Molecular and Human Genetics , Baylor College of Medicine , Houston , United States ; Department of Medicine , Baylor College of Medicine , Houston , United States.

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July 2013

Effects of lactose-containing vs lactose-free infant formula on postprandial superior mesenteric artery flow in term infants.

JPEN J Parenter Enteral Nutr 2014 Feb 11;38(2):236-42. Epub 2013 Mar 11.

Department of Pediatrics, University of Kansas Medical Center, Kansas City, Kansas.

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February 2014

Antibody correlates and predictors of immunity to naturally occurring influenza in humans and the importance of antibody to the neuraminidase.

J Infect Dis 2013 Mar 10;207(6):974-81. Epub 2013 Jan 10.

Departments of Molecular Virology and Microbiology and Medicine, Baylor College of Medicine, One Baylor Plaza, MS BCM280, Houston, TX 77030, USA.

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March 2013

Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development.

Hum Mol Genet 2013 Mar 25;22(5):879-89. Epub 2012 Nov 25.

Department of Molecular and Human Genetics, Texas Children’s Hospital, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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March 2013

Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007.

Birth Defects Res A Clin Mol Teratol 2012 Nov 2;94(11):951-4. Epub 2012 Nov 2.

Human Genetics Center, Division of Epidemiology, Human Genetics and Environmental Sciences, University of Texas School of Public Health, Houston, Texas, USA.

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November 2012

The association between neonatal thyroxine and craniosynostosis, Texas, 2004-2007.

Birth Defects Res A Clin Mol Teratol 2012 Dec 26;94(12):1004-9. Epub 2012 Oct 26.

The University of Texas Medical School, Houston, Texas, USA.

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December 2012

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

J Lipid Res 2012 Nov 15;53(11):2425-8. Epub 2012 Aug 15.

Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, NY, USA.

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November 2012

Assessment of bone mineral status in children with Marfan syndrome.

Am J Med Genet A 2012 Sep 7;158A(9):2221-4. Epub 2012 Aug 7.

Department of Pediatric Diabetes and Endocrinology, Baylor College of Medicine, Houston, Texas 77030-3411, USA.

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September 2012

Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.

Am J Med Genet A 2012 Aug 27;158A(8):2047-9. Epub 2012 Jun 27.

Department of Biology, Portland State University, Portland, Oregon 97034, USA.

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August 2012

Impact of restricted marital practices on genetic variation in an endogamous Gujarati group.

Am J Phys Anthropol 2012 Sep 23;149(1):92-103. Epub 2012 Jun 23.

Institute for Genetic Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90033, USA.

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September 2012

Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.

Am J Med Genet A 2011 Dec 3;155A(12):3025-9. Epub 2011 Nov 3.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas 77030, USA.

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December 2011

Clan genomics and the complex architecture of human disease.

Cell 2011 Sep;147(1):32-43

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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September 2011

SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.

Genome Biol 2011 Sep 21;12(9):R91. Epub 2011 Sep 21.

Division of Molecular Cardiovascular Biology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA.

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September 2011

Beyond matching on the mean in developmental disabilities research.

Res Dev Disabil 2011 Nov-Dec;32(6):2134-47. Epub 2011 Aug 24.

Univ Lille Nord de France, F-59000 Lille, France.

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February 2012

Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion.

Am J Med Genet A 2011 Sep 10;155A(9):2215-20. Epub 2011 Aug 10.

The Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas 77030, USA.

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September 2011

Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.

Am J Med Genet A 2011 Jul 2;155A(7):1574-80. Epub 2011 Jun 2.

Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.

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July 2011

Strategic approaches to unraveling genetic causes of cardiovascular diseases.

Circ Res 2011 May;108(10):1252-69

Center for Cardiovascular Genetics, The Brown Foundation Institute of Molecular Medicine, The University of Texas Health Sciences Center, 6770 Bertner Street, Suite C900A, Houston, TX 77030, USA.

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May 2011

Left ventricular noncompaction in Sotos syndrome.

Am J Med Genet A 2011 May 11;155A(5):1115-8. Epub 2011 Apr 11.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, USA.

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May 2011

Dilation of the aortic root in mitochondrial disease patients.

Mol Genet Metab 2011 Jun 18;103(2):167-70. Epub 2011 Feb 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 , USA.

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June 2011

Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans.

J Infect Dis 2011 Apr 28;203(7):921-9. Epub 2011 Feb 28.

Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas 77030-2504, USA.

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April 2011

Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.

Birth Defects Res A Clin Mol Teratol 2011 Mar 2;91(3):162-8. Epub 2011 Feb 2.

Center for Molecular and Human Genetics, Nationwide Children's Hospital, Department of Pediatrics, Ohio State University, Columbus, Ohio 43205, USA.

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March 2011

Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.

Proc Natl Acad Sci U S A 2011 Feb 31;108(7):2915-20. Epub 2011 Jan 31.

Department of Genetics, The Howard Hughes Medical Institute,Yale University School of Medicine, New Haven, CT 06520, USA.

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February 2011