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Lista de obras de John W. Belmont

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2007

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

artículo científico publicado en 2018

A second generation human haplotype map of over 3.1 million SNPs

artículo científico publicado en 2007

Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy

artículo científico publicado en 2019

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Argentine population genetic structure: large variance in Amerindian contribution

artículo científico publicado en 2007

Array-based DNA diagnostics: let the revolution begin

artículo científico publicado en 2008

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

artículo científico publicado en 2009

Assessment of bone mineral status in children with Marfan syndrome.

artículo científico publicado en 2012

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

artículo científico publicado en 2017

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2001

Bcr-Abl-mediated suppression of normal hematopoiesis in leukemia

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 1999

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

artículo científico publicado en 1991

Characterization of the interactions of human ZIC3 mutants with GLI3

artículo científico publicado en 2008

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

article

Clan genomics and the complex architecture of human disease

artículo científico publicado en 2011

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

artículo científico publicado en 2003

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome

artículo científico publicado en 2022

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

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 2004

Edematous severe acute malnutrition is characterized by hypomethylation of DNA

artículo científico publicado en 2019

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

artículo científico publicado en 2004

Enzyme-replacement therapy in mucopolysaccharidosis I.

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico

Exclusion of PITX2 mutations as a major cause of CHARGE association

artículo científico publicado en 2002

FBN1 mutations in patients with descending thoracic aortic dissections.

artículo científico publicado en 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

artículo científico publicado en 1999

Genetic architecture of laterality defects revealed by whole exome sequencing

artículo científico publicado en 2019

Genetic basis of congenital cardiovascular malformations

artículo científico publicado en 2014

Genetic disorders with both hearing loss and cardiovascular abnormalities

artículo científico publicado en 2011

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy

artículo científico publicado en 2005

Genetics of human heterotaxias

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2007

Genome-wide linkage disequilibrium and haplotype maps

artículo científico publicado en 2004

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 1998

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

Identification of a novel role of ZIC3 in regulating cardiac development

artículo científico publicado en 2007

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

artículo científico publicado en 2007

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

Insights into lymphocyte development from X-linked immune deficiencies

artículo científico publicado en 1995

Integrative genomic analysis of the human immune response to influenza vaccination

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

Left ventricular noncompaction in Sotos syndrome

article

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

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

artículo científico publicado en 1993

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

artículo científico publicado en 2009

Lipocalin 2 is required for BCR-ABL-induced tumorigenesis

artículo científico publicado en 2008

Localization of BRRN1, the Human Homologue ofDrosophila barr,to 2q11.2 ⬇️

artículo científico publicado el 1 de diciembre de 1997

Long-distance DD-PCR and cDNA microarrays

artículo científico publicado en 2000

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 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.

artículo científico publicado en 2008

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

artículo científico publicado en 1995

Molecular determinants of left and right outflow tract obstruction

artículo científico publicado en 2000

Molecular genetics of heterotaxy syndromes

artículo científico publicado en 2004

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

artículo científico publicado en 2016

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

artículo científico publicado en 2008

NPHP4 variants are associated with pleiotropic heart malformations

artículo científico publicado en 2012

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

artículo científico publicado en 2011

Omphalocele in trisomy 3q: further delineation of phenotype

artículo científico publicado en 2003

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

artículo científico publicado en 2009

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2005

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

artículo científico publicado en 2016

Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency

artículo científico publicado en 1999

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 1991

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

artículo científico publicado en 2013

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

artículo científico publicado en 2013

Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Recommendations for the integration of genomics into clinical practice

artículo científico

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2011

SNP genotyping to screen for a common deletion in CHARGE syndrome

artículo científico publicado en 2005

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

artículo científico publicado en 2006

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

artículo científico publicado en 2005

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

artículo científico publicado en 1995

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

Strategic approaches to unraveling genetic causes of cardiovascular diseases

artículo científico publicado en 2011

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

artículo científico publicado en 2001

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

artículo científico publicado en 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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

The biology of the human ligand for CD40.

artículo científico publicado en 1993

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

The molecular basis of vascular disorders

artículo científico publicado en 1999

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

artículo científico publicado en 2004

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.

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 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.

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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