List of works by John W. Belmont

"Personalizing" academic medicine: opportunities and challenges in implementing genomic profiling

scientific article

20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits

scientific article published on 23 September 2008

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

scientific article

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

scientific article published on 01 March 2019

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

scientific article published on 19 September 2012

A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase

scientific article published in October 2004

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

scientific article published on 09 March 2016

A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping

scientific article published on June 2007

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

scientific article published on 10 May 2018

A second generation human haplotype map of over 3.1 million SNPs

scientific article

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy

scientific article published on 17 April 2019

Amerindian ancestry in Argentina is associated with increased risk for systemic lupus erythematosus

scientific article

An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panels

scientific article

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

scientific article published on March 2017

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

scientific article

Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America

scientific article

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

scientific article

Argentine population genetic structure: large variance in Amerindian contribution

scientific article

Array-based DNA diagnostics: let the revolution begin

scientific article

Assessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping

scientific article

Assessment of bone mineral status in children with Marfan syndrome.

scientific article published on 7 August 2012

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

scientific article

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

journal article published in 2012

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

scientific article published on 02 February 2011

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

scientific article published on 21 July 2015

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

scientific article

BCR gene expression blocks Bcr-Abl induced pathogenicity in a mouse model

scientific article published in April 2001

Bcr-Abl-mediated suppression of normal hematopoiesis in leukemia

scientific article published in May 2005

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

scientific article published on 31 August 2016

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

scientific article

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

scientific article

Characterization of recombinant helper retroviruses from Moloney-based vectors in ecotropic and amphotropic packaging cell lines

scientific article published on February 1991

Characterization of the interactions of human ZIC3 mutants with GLI3

scientific article

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

article

Clan genomics and the complex architecture of human disease

scientific article published on September 2011

Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy

scientific article (publication date: 25 November 2003)

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

scientific article published in October 2004

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

scientific article

Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis

scientific article

Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome

scientific article published in 2022

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

scientific article

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

scientific article

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

scientific article published on 08 October 2018

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

scientific article published on 01 September 2019

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

scientific article published on 30 August 2016

Correlation between CXCR4 and Homing or Engraftment of Acute Myelogenous Leukemia

article

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly

scientific article

DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression

article

Differential mRNA display using anchored oligo-dT and long sequence-specific primers as arbitrary primers

scientific article published on December 1996

Dilation of the aortic root in mitochondrial disease patients

article

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.

scientific article published in September 2003

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

scientific article

Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions

scientific article

Edematous severe acute malnutrition is characterized by hypomethylation of DNA

scientific article published on 19 December 2019

Engraftment of acute myeloid leukemia in NOD/SCID mice is independent of CXCR4 and predicts poor patient survival

scientific article published in January 2004

Enzyme-replacement therapy in mucopolysaccharidosis I.

scientific article published in January 2001

Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001

scientific article

Estimating the burden and economic impact of pediatric genetic disease

scientific article published on 20 December 2018

European population substructure: clustering of northern and southern populations

scientific article published on 15 September 2006

Examination of ancestry and ethnic affiliation using highly informative diallelic DNA markers: application to diverse and admixed populations and implications for clinical epidemiology and forensic medicine

scientific article published on 29 September 2005

Exclusion of PITX2 mutations as a major cause of CHARGE association.

scientific article published in July 2002

FBN1 mutations in patients with descending thoracic aortic dissections.

scientific article published in February 2010

Further Associations of Congenital Heart Disease and Genetic Syndromes: Report of a Case of Tetralogy of Fallot and Fabry’s Disease

Gene trap screening using negative selection: identification of two tandem, differentially expressed loci with potential hematopoietic function.

scientific article published in January 1999

Genetic architecture of laterality defects revealed by whole exome sequencing

scientific article published on 08 January 2019

Genetic basis of congenital cardiovascular malformations

scientific article

Genetic disorders with both hearing loss and cardiovascular abnormalities

scientific article published on 24 February 2011

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy

scientific article

Genetics of human heterotaxias

scientific article

Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1.

scientific article published on 11 September 2011

Genome-wide detection and characterization of positive selection in human populations

scientific article

Genome-wide linkage disequilibrium and haplotype maps

scientific article published in January 2004

Global gene expression profiling in infants with acute respiratory syncytial virus broncholitis demonstrates systemic activation of interferon signaling networks

scientific article published in February 2013

Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway

scientific journal article

Heritability of plasma amino acid levels in different nutritional states.

scientific article published on 26 September 2006

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

scientific article

Highly multiplexed molecular inversion probe genotyping: over 10,000 targeted SNPs genotyped in a single tube assay

scientific article

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

scientific article

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

scientific article published on 12 June 2015

Identification and cloning of differentially expressed genes by long-distance differential display

scientific article

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects

scientific article

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

scientific article

Identification of a novel role of ZIC3 in regulating cardiac development

scientific article

Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome

scientific article published on October 2007

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

scientific article

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

scientific article published in April 2005

Insights into lymphocyte development from X-linked immune deficiencies

scientific article published on March 1995

Integrative genomic analysis of the human immune response to influenza vaccination

scientific article published on 16 July 2013

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

scientific article

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

scientific article published on 23 April 2019

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

scientific article published on 2 October 2011

LPL gene variants affect apoC-III response to combination therapy of statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia

scientific article published on 11 January 2012

Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections.

scientific article

Left ventricular noncompaction in Sotos syndrome

article

Lessons learned from additional research analyses of unsolved clinical exome cases

scientific article published on 21 March 2017

Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22.

scientific article published on February 1993

Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome).

scientific article

Lipocalin 2 is required for BCR-ABL-induced tumorigenesis

scientific article

Long-distance DD-PCR and cDNA microarrays

scientific article

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

scientific article

Low-level mosaicism of trisomy 14: phenotypic and molecular characterization.

scientific article published in June 2008

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

scientific article published on 16 June 2013

Mexican American ancestry-informative markers: examination of population structure and marker characteristics in European Americans, Mexican Americans, Amerindians and Asians

scientific article published on 20 November 2003

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

scientific article published on 20 December 2018

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

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

scientific article

Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23.

scientific article published in March 1995

Molecular determinants of left and right outflow tract obstruction

scientific article

Molecular genetics of heterotaxy syndromes

scientific article published on May 2004

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

scientific article

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

scientific article published on 30 June 2008

NPHP4 variants are associated with pleiotropic heart malformations

scientific article

Niemann-Pick-like liver disease and reduced cholesterol esterification in fibroblasts of two male infants

scientific article published on 01 May 1994

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

article

Novel cardiac findings in periventricular nodular heterotopia

article

Olfactory copy number association with age at onset of Alzheimer disease

scientific article

Omphalocele in trisomy 3q: further delineation of phenotype

scientific article

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome

scientific article published in October 2009

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

scientific article published in October 2002

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

scientific article published on 14 August 2017

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

scientific article published on 15 September 2018

Positive selection of a pre-expansion CAG repeat of the human SCA2 gene

scientific article

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

scientific article published on 19 July 2016

Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency

scientific article

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

scientific article

Prior infections with seasonal influenza A/H1N1 virus reduced the illness severity and epidemic intensity of pandemic H1N1 influenza in healthy adults

scientific article

RNA secondary structure analysis of the packaging signal for Moloney murine leukemia virus

scientific article published on August 1991

Rare APOA5 promoter variants associated with paradoxical HDL cholesterol decrease in response to fenofibric acid therapy

scientific article published on 30 April 2013

Rare Copy Number Variants Disrupt Genes Regulating Vascular Smooth Muscle Cell Adhesion and Contractility in Sporadic Thoracic Aortic Aneurysms and Dissections.

scientific article published in June 2013

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

scientific article published on 29 August 2012

Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections

scientific article

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

scientific article

Recommendations for the integration of genomics into clinical practice

scientific article published on 12 May 2016

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

scientific article

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

scientific article published on 19 December 2018

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

article by Melissa B Ramocki et al published July 2011 in American Journal of Medical Genetics

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

scientific article (publication date: 12 November 2009)

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

scientific article

Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

scientific article published on 5 June 2008

Replicative mechanisms for CNV formation are error prone

scientific article published on 22 September 2013

Reply to Seligman

scientific article published in 2006

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

scientific article

SNP genotyping to screen for a common deletion in CHARGE syndrome

scientific article

Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling

scientific article published on 12 October 2006

Single nucleotide polymorphisms in genes for 2'-5'-oligoadenylate synthetase and RNase L inpatients hospitalized with West Nile virus infection

scientific article

Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.

scientific article

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148

scientific article

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

Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation

scientific article

Strategic approaches to unraveling genetic causes of cardiovascular diseases

scientific article

Supravalvular aortic stenosis: genetic and molecular dissection of a complex mutation in the elastin gene

scientific article published on 13 October 2001

Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH

scientific article published on 22 December 2010

TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities

scientific article published on 27 June 2013

The Twiddling Andersen

scientific article published in January 2009

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

scientific article published on 26 October 2012

The biology of the human ligand for CD40.

scientific article published on November 1993

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

scientific article published on 13 July 2016

The futility of genomic counseling: essential role of electronic health records

scientific article (publication date: 8 May 2009)

The molecular basis of vascular disorders

scientific article

The synthetic triterpenoid 2-cyano-3,12-dioxooleana-1,9-dien-28-oic acid induces caspase-dependent and -independent apoptosis in acute myelogenous leukemia

scientific article

Total is more than the sum of the parts: Phenotyping the heart in cardiovascular genetics clinics

article

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions

article

Upper gastrointestinal malformations in Coffin-Siris syndrome.

scientific article published in July 2007

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

scientific article

Variants in the APOA5 gene region and the response to combination therapy with statins and fenofibric acid in a randomized clinical trial of individuals with mixed dyslipidemia

article

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

scientific article published on 31 October 2017

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.

scientific article published on 22 September 2016

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

scientific article published on 31 March 2020

Zic3 is critical for early embryonic patterning during gastrulation

scientific article published in March 2006

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

scientific article published on 25 November 2012

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