Professor, Molecular and Human Genetics, Baylor College of Medicine
Medical Genetics
Dr. John Belmont, PHD
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John Belmont, PHD works in the field of Medical Genetics. He graduated from Baylor College of Medicine. He has 2 awards "Elected Member" and "Investigator Alumnus". John Belmont, PHD is a published MD as well. He has 73 publications published. The latest was: A Genome Wide Association Study of Congenital Cardiovascular Left-Sided Lesions Shows Association with a Locus on Chromosome 20.
Publications
- Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.
- A Genome-Wide Screen for Large-Effect Alloimmunization Susceptibility Loci among Red Blood Cell Transfusion Recipients with Sickle Cell Disease.
- Laterality defects in the national birth defects prevention study (1998-2007): Birth prevalence and descriptive epidemiology.
- Genetic basis of congenital cardiovascular malformations.
- Runs of homozygosity and parental relatedness.
- Replicative mechanisms for CNV formation are error prone.
- Rare APOA5 promoter variants associated with paradoxical HDL cholesterol decrease in response to fenofibric acid therapy.
- TM4SF20 Ancestral Deletion and Susceptibility to a Pediatric Disorder of Early Language Delay and Cerebral White Matter Hyperintensities.
- A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human.
- Antibody correlates and predictors of immunity to naturally occurring influenza in humans and the importance of antibody to the neuraminidase.
- Global gene expression profiling in infants with acute respiratory syncytial virus broncholitis demonstrates systemic activation of interferon signaling networks.
- Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
- The association between neonatal thyroxine and craniosynostosis, Texas, 2004-2007.
- Zic3 is required in the extra-cardiac perinodal region of the lateral plate mesoderm for left-right patterning and heart development.
- Association between thyroxine levels at birth and choanal atresia or stenosis among infants in Texas, 2004-2007.
- Assessment of bone mineral status in children with Marfan syndrome.
- Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain specific ARHGEF4 and GPR148.
- Prior infections with seasonal influenza A/H1N1 virus reduced the illness severity and epidemic intensity of pandemic H1N1 influenza in healthy adults.
- Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.
- Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
- Clan genomics and the complex architecture of human disease.
- SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing.
- Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.
- Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.
- Left ventricular noncompaction in Sotos syndrome.
- Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans.
- Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects.
- Dilation of the aortic root in mitochondrial disease patients.
- Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning.
- Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH.
- Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections.
- Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.
- FBN1 mutations in patients with descending thoracic aortic dissections.
- PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.
- Novel cardiac findings in periventricular nodular heterotopia.
- "Personalizing" academic medicine: opportunities and challenges in implementing genomic profiling.
- Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
- Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America.
- The Twiddling Andersen.
- Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly.
- Characterization of the interactions of human ZIC3 mutants with GLI3.
- Array-based DNA diagnostics: let the revolution begin.
- 22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.
- Analysis of East Asia genetic substructure using genome-wide SNP arrays.
- Upper gastrointestinal malformations in Coffin-Siris syndrome.
- A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping.
- Argentine population genetic structure: large variance in Amerindian contribution.
- Heritability of plasma amino acid levels in different nutritional states.
- Craniofacial, skeletal, and cardiac defects associated with altered embryonic murine Zic3 expression following targeted insertion of a PGK-NEO cassette.
- Low levels of genetic divergence across geographically and linguistically diverse populations from India.
- European population substructure: clustering of northern and southern populations.
- Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway.
- Zic3 is critical for early embryonic patterning during gastrulation.
- Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
- Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.
- Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) ...
- Complex phenotypes and complex genetics: an introduction to genetic studies of complex traits.
- Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.
- A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.
- Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.
- Correlation between CXCR4 and homing or engraftment of acute myelogenous leukemia.
- Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.
- Molecular genetics of heterotaxy syndromes.
- Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.
- Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy.
- Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.
- Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.
- The dual specificity JKAP specifically activates the c-Jun N-terminal kinase pathway.
- Exclusion of PITX2 mutations as a major cause of CHARGE association.
- Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in foxf1 heterozygous knockout mice.
- The phosphatase JKAP/DUSP22 inhibits T-cell receptor signalling and autoimmunity by inactivating Lck.
- A Genome Wide Association Study of Congenital Cardiovascular Left-Sided Lesions Shows Association with a Locus on Chromosome 20.
Schools
Baylor College Of Medicine
Chldns Hospital
Baylor Affil Hosps
Baylor
Doctors Specialties
- Clinical Biochemical Genetics
- Clinical Genetics
- Pediatrics
- Medical Genetics
Accepted Insurances
Awards
- Elected Member
- Investigator Alumnus
Education
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Baylor College of Medicine
Hospital
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Baylor St. Luke's Medical Center -
Texas Children's Hospital
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