JOHN BELMONT to Humans
This is a "connection" page, showing publications JOHN BELMONT has written about Humans.
Connection Strength
0.869
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The Causal Pivot: A structural approach to genetic heterogeneity and variant discovery in complex diseases. Am J Hum Genet. 2025 Sep 04; 112(9):2232-2246.
Score: 0.025
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Genetic Epidemiology Highlights the Role?of Aortic Strain and Distensibility in?Cardiovascular Disease. J Am Coll Cardiol. 2023 04 11; 81(14):1336-1338.
Score: 0.022
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Further Considerations on the Value of Whole-Genome Sequencing in Critically Ill Infants-Reply. JAMA Pediatr. 2022 04 01; 176(4):422.
Score: 0.020
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Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J Med Genet. 2019 12; 56(12):783-791.
Score: 0.016
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Genetic architecture of laterality defects revealed by whole exome sequencing. Eur J Hum Genet. 2019 04; 27(4):563-573.
Score: 0.016
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Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns. Genome Med. 2017 10 31; 9(1):95.
Score: 0.015
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Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events. Am J Med Genet A. 2017 Aug; 173(8):2176-2188.
Score: 0.014
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Clinical bioinformatics: emergence of a new laboratory discipline. Expert Rev Mol Diagn. 2016 11; 16(11):1139-1141.
Score: 0.014
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Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant. Am J Med Genet A. 2015 Nov; 167A(11):2742-7.
Score: 0.013
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Genetic basis of congenital cardiovascular malformations. Eur J Med Genet. 2014 Aug; 57(8):402-13.
Score: 0.012
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Runs of homozygosity and parental relatedness. Genet Med. 2013 Sep; 15(9):753-4.
Score: 0.011
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Global gene expression profiling in infants with acute respiratory syncytial virus broncholitis demonstrates systemic activation of interferon signaling networks. Pediatr Infect Dis J. 2013 Feb; 32(2):e68-76.
Score: 0.011
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Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet. 2013 Feb; 21(2):173-81.
Score: 0.010
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Strategic approaches to unraveling genetic causes of cardiovascular diseases. Circ Res. 2011 May 13; 108(10):1252-69.
Score: 0.009
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Genetic disorders with both hearing loss and cardiovascular abnormalities. Adv Otorhinolaryngol. 2011; 70:66-74.
Score: 0.009
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Association of common variants in ERBB4 with congenital left ventricular outflow tract obstruction defects. Birth Defects Res A Clin Mol Teratol. 2011 Mar; 91(3):162-8.
Score: 0.009
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Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. Am J Hum Genet. 2010 Dec 10; 87(6):743-56.
Score: 0.009
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Large deletions and uniparental disomy detected by SNP arrays in adults with thoracic aortic aneurysms and dissections. Am J Med Genet A. 2010 Sep; 152A(9):2399-405.
Score: 0.009
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FBN1 mutations in patients with descending thoracic aortic dissections. Am J Med Genet A. 2010 Feb; 152A(2):413-6.
Score: 0.009
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Assessing the utility of whole-genome amplified serum DNA for array-based high throughput genotyping. BMC Genet. 2009 Dec 18; 10:85.
Score: 0.009
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"Personalizing" academic medicine: opportunities and challenges in implementing genomic profiling. Transl Res. 2009 Dec; 154(6):288-94.
Score: 0.008
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Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur J Hum Genet. 2009 Jun; 17(6):811-9.
Score: 0.008
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Characterization of the interactions of human ZIC3 mutants with GLI3. Hum Mutat. 2008 Jan; 29(1):99-105.
Score: 0.008
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Array-based DNA diagnostics: let the revolution begin. Annu Rev Med. 2008; 59:113-29.
Score: 0.008
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Identification of a novel role of ZIC3 in regulating cardiac development. Hum Mol Genet. 2007 Jul 15; 16(14):1649-60.
Score: 0.007
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.007
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Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999-2001. Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):555-61.
Score: 0.006
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Complex phenotypes and complex genetics: an introduction to genetic studies of complex traits. Curr Atheroscler Rep. 2005 May; 7(3):180-7.
Score: 0.006
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Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. Am J Med Genet A. 2005 Apr 15; 134A(2):180-6.
Score: 0.006
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A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases. Genet Med. 2025 Jun; 27(6):101398.
Score: 0.006
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SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.006
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A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase. Birth Defects Res A Clin Mol Teratol. 2004 Oct; 70(10):825-30.
Score: 0.006
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Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions. Pediatrics. 2004 Sep; 114(3):691-6.
Score: 0.006
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SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet. 2004 Jul; 41(7):e94.
Score: 0.006
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The impact of clinical genome sequencing in a global population with suspected rare genetic disease. Am J Hum Genet. 2024 07 11; 111(7):1271-1281.
Score: 0.006
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Molecular genetics of heterotaxy syndromes. Curr Opin Cardiol. 2004 May; 19(3):216-20.
Score: 0.006
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The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape. Curr Cardiol Rep. 2024 03; 26(3):135-146.
Score: 0.006
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Genome-wide linkage disequilibrium and haplotype maps. Am J Pharmacogenomics. 2004; 4(4):253-62.
Score: 0.006
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Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet. 2004 Jan; 74(1):93-105.
Score: 0.006
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Accuracy of analog telephonic stethoscopy for pediatric telecardiology. Pediatrics. 2003 Oct; 112(4):780-6.
Score: 0.006
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Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. Am J Med Genet A. 2003 Apr 30; 118A(3):260-6.
Score: 0.005
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The dual specificity JKAP specifically activates the c-Jun N-terminal kinase pathway. J Biol Chem. 2002 Sep 27; 277(39):36592-601.
Score: 0.005
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Recommendations for whole genome sequencing in diagnostics for rare diseases. Eur J Hum Genet. 2022 09; 30(9):1017-1021.
Score: 0.005
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Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. BMC Pediatr. 2002 Apr 25; 2:4.
Score: 0.005
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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial. JAMA Pediatr. 2021 12 01; 175(12):1218-1226.
Score: 0.005
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Cost-effectiveness of genome sequencing for diagnosing patients with undiagnosed rare genetic diseases. Genet Med. 2022 01; 24(1):109-118.
Score: 0.005
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Cell cycle-dependent expression and nucleolar localization of hCAP-H. Mol Biol Cell. 2001 Nov; 12(11):3527-37.
Score: 0.005
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Genetic variation in the body mass index of adult survivors of childhood acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort. Cancer. 2021 01 15; 127(2):310-318.
Score: 0.005
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Long-distance DD-PCR and cDNA microarrays. Curr Opin Microbiol. 2000 Jun; 3(3):316-21.
Score: 0.004
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The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic. Genome Med. 2020 05 27; 12(1):48.
Score: 0.004
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Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 06; 182(6):1387-1399.
Score: 0.004
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Molecular determinants of left and right outflow tract obstruction. Am J Med Genet. 2000; 97(4):297-303.
Score: 0.004
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Edematous severe acute malnutrition is characterized by hypomethylation of DNA. Nat Commun. 2019 12 19; 10(1):5791.
Score: 0.004
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Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome. Genome Med. 2019 04 23; 11(1):25.
Score: 0.004
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Aberrant DNA methylation as a diagnostic biomarker of diabetic embryopathy. Genet Med. 2019 11; 21(11):2453-2461.
Score: 0.004
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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 03 21; 177(1):32-37.
Score: 0.004
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The molecular basis of vascular disorders. Am J Hum Genet. 1999 Mar; 64(3):678-84.
Score: 0.004
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Microdeletions excluding YWHAE and PAFAH1B1 cause a unique leukoencephalopathy: further delineation of the 17p13.3 microdeletion spectrum. Genet Med. 2019 07; 21(7):1652-1656.
Score: 0.004
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Estimating the burden and economic impact of pediatric genetic disease. Genet Med. 2019 08; 21(8):1781-1789.
Score: 0.004
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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479.
Score: 0.004
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DNA methylation and obesity in survivors of pediatric acute lymphoblastic leukemia: A report from the Childhood Cancer Survivor Study. Genes Chromosomes Cancer. 2019 01; 58(1):52-59.
Score: 0.004
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Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease. Genet Med. 2019 05; 21(5):1121-1130.
Score: 0.004
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Genomic stability and the mechanisms of chromatid separation in mammalian cells. Mol Genet Metab. 1998 Oct; 65(2):105-12.
Score: 0.004
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Recent progress in the molecular genetics of congenital heart defects. Clin Genet. 1998 Jul; 54(1):11-9.
Score: 0.004
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A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet. 2018 09; 26(9):1294-1305.
Score: 0.004
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Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 12 04; 171(12):e173438.
Score: 0.004
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Localization of BRRN1, the human homologue of Drosophila barr, to 2q11.2. Genomics. 1997 Dec 01; 46(2):311-3.
Score: 0.004
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A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility. Blood. 2017 11 16; 130(20):2229-2232.
Score: 0.004
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Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 08 14; 9(1):73.
Score: 0.004
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Protection of primary human T cells from HIV infection by Trev: a transdominant fusion gene. Hum Gene Ther. 1997 May 01; 8(7):861-8.
Score: 0.004
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Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 1997 Apr; 7(4):315-29.
Score: 0.004
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Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 03 21; 9(1):26.
Score: 0.004
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Water Load Test in Children with Chronic Abdominal Pain or Obesity Compared with Nonobese Controls. South Med J. 2017 03; 110(3):168-171.
Score: 0.004
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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984.
Score: 0.004
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Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017 03; 175(1):40-47.
Score: 0.004
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The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 03; 175(1):8-26.
Score: 0.004
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Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 02 28; 45(4):1633-1648.
Score: 0.004
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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 19; 371(1710).
Score: 0.003
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Middle ear microbiome differences in indigenous Filipinos with chronic otitis media due to a duplication in the A2ML1 gene. Infect Dis Poverty. 2016 Nov 01; 5(1):97.
Score: 0.003
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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. Genet Med. 2017 04; 19(4):412-420.
Score: 0.003
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Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 06; 99(4):886-893.
Score: 0.003
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Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 09; 26(9):1170-7.
Score: 0.003
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Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 01; 139(1):232-245.
Score: 0.003
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The ethics of conducting molecular autopsies in cases of sudden death in the young. Genome Res. 2016 09; 26(9):1165-9.
Score: 0.003
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Genetic control of X inactivation and processes leading to X-inactivation skewing. Am J Hum Genet. 1996 Jun; 58(6):1101-8.
Score: 0.003
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Recommendations for the integration of genomics into clinical practice. Genet Med. 2016 11; 18(11):1075-1084.
Score: 0.003
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Gene Expression Profiling Identifies Cell Proliferation and Inflammation as the Predominant Pathways Regulated by Aryl Hydrocarbon Receptor in Primary Human Fetal Lung Cells Exposed to Hyperoxia. Toxicol Sci. 2016 07; 152(1):155-68.
Score: 0.003
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A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. Hum Mol Genet. 2016 06 01; 25(11):2331-2341.
Score: 0.003
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Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy. Am J Hum Genet. 2016 Mar 03; 98(3):562-570.
Score: 0.003
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Toward clinical genomics in everyday medicine: perspectives and recommendations. Expert Rev Mol Diagn. 2016; 16(5):521-32.
Score: 0.003
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Racial disparities in heterotaxy syndrome. Birth Defects Res A Clin Mol Teratol. 2015 Nov; 103(11):941-50.
Score: 0.003
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Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. Am J Hum Genet. 2015 Jul 02; 97(1):6-21.
Score: 0.003
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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations. Orphanet J Rare Dis. 2015 Jun 14; 10:75.
Score: 0.003
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Host Transcriptional Response to Influenza and Other Acute Respiratory Viral Infections--A Prospective Cohort Study. PLoS Pathog. 2015 Jun; 11(6):e1004869.
Score: 0.003
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Inhibition of HIV-1 by a double transdominant fusion gene. Gene Ther. 1995 May; 2(3):181-6.
Score: 0.003
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Serial fecal microbiota transplantation alters mucosal gene expression in pediatric ulcerative colitis. Am J Gastroenterol. 2015 Apr; 110(4):604-6.
Score: 0.003
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Insights into lymphocyte development from X-linked immune deficiencies. Trends Genet. 1995 Mar; 11(3):112-6.
Score: 0.003
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Clinical interpretation of skewed X inactivation. Blood. 1994 Oct 01; 84(7):2375-6.
Score: 0.003
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Laterality defects in the national birth defects prevention study (1998-2007): birth prevalence and descriptive epidemiology. Am J Med Genet A. 2014 Oct; 164A(10):2581-91.
Score: 0.003
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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; 9(4):e94390.
Score: 0.003
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The phosphatase JKAP/DUSP22 inhibits T-cell receptor signalling and autoimmunity by inactivating Lck. Nat Commun. 2014 Apr 09; 5:3618.
Score: 0.003
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A sensitive reporter cell line for HIV-1 tat activity, HIV-1 inhibitors, and T cell activation effects. AIDS Res Hum Retroviruses. 1994 Mar; 10(3):295-301.
Score: 0.003
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Application of carrier testing to genetic counseling for X-linked agammaglobulinemia. Am J Hum Genet. 1994 Jan; 54(1):25-35.
Score: 0.003
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The biology of the human ligand for CD40. J Clin Immunol. 1993 Nov; 13(6):373-80.
Score: 0.003
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Replicative mechanisms for CNV formation are error prone. Nat Genet. 2013 Nov; 45(11):1319-26.
Score: 0.003
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Trinucleotide repeat polymorphism at DXS101. Hum Mol Genet. 1993 Sep; 2(9):1508.
Score: 0.003
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Integrative genomic analysis of the human immune response to influenza vaccination. Elife. 2013 Jul 16; 2:e00299.
Score: 0.003
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TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities. Am J Hum Genet. 2013 Aug 08; 93(2):197-210.
Score: 0.003
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MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet. 2013 Nov 01; 22(21):4339-48.
Score: 0.003
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Dinucleotide repeat polymorphism in the human CD40 ligand gene. Hum Mol Genet. 1993 Jun; 2(6):828.
Score: 0.003
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Rare APOA5 promoter variants associated with paradoxical HDL cholesterol decrease in response to fenofibric acid therapy. J Lipid Res. 2013 Jul; 54(7):1980-7.
Score: 0.003
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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 15; 207(6):974-81.
Score: 0.003
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Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet. 1992 Dec; 51(6):1229-39.
Score: 0.003
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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 01; 22(5):879-89.
Score: 0.003
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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; 94(11):951-4.
Score: 0.003
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The association between neonatal thyroxine and craniosynostosis, Texas, 2004-2007. Birth Defects Res A Clin Mol Teratol. 2012 Dec; 94(12):1004-9.
Score: 0.003
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A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. Eur J Hum Genet. 2013 Apr; 21(4):474-7.
Score: 0.003
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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; 53(11):2425-8.
Score: 0.003
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Assessment of bone mineral status in children with Marfan syndrome. Am J Med Genet A. 2012 Sep; 158A(9):2221-4.
Score: 0.003
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Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome. Am J Med Genet A. 2012 Aug; 158A(8):2047-9.
Score: 0.003
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Impact of restricted marital practices on genetic variation in an endogamous Gujarati group. Am J Phys Anthropol. 2012 Sep; 149(1):92-103.
Score: 0.003
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Dinucleotide repeat polymorphism at the DXS178 locus. Hum Mol Genet. 1992 Jun; 1(3):216.
Score: 0.003
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NPHP4 variants are associated with pleiotropic heart malformations. Circ Res. 2012 Jun 08; 110(12):1564-74.
Score: 0.003
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Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148. Hum Mol Genet. 2012 Aug 01; 21(15):3345-55.
Score: 0.003
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Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. 1993. J Immunol. 2012 Apr 01; 188(7):2936-47.
Score: 0.003
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Stromal support enhances cell-free retroviral vector transduction of human bone marrow long-term culture-initiating cells. Blood. 1992 Mar 15; 79(6):1393-9.
Score: 0.003
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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. J Lipid Res. 2012 Mar; 53(3):556-560.
Score: 0.002
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Prior infections with seasonal influenza A/H1N1 virus reduced the illness severity and epidemic intensity of pandemic H1N1 influenza in healthy adults. Clin Infect Dis. 2012 Feb 01; 54(3):311-7.
Score: 0.002
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Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy. Am J Med Genet A. 2011 Dec; 155A(12):3025-9.
Score: 0.002
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome. Nat Genet. 2011 Oct 02; 43(11):1074-81.
Score: 0.002
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Leukemia inhibitory factor improves survival of retroviral vector-infected hematopoietic stem cells in vitro, allowing efficient long-term expression of vector-encoded human adenosine deaminase in vivo. J Exp Med. 1991 Oct 01; 174(4):837-45.
Score: 0.002
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Clan genomics and the complex architecture of human disease. Cell. 2011 Sep 30; 147(1):32-43.
Score: 0.002
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SHROOM3 is a novel candidate for heterotaxy identified by whole exome sequencing. Genome Biol. 2011 Sep 21; 12(9):R91.
Score: 0.002
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Genome-wide association study identifies a susceptibility locus for thoracic aortic aneurysms and aortic dissections spanning FBN1 at 15q21.1. Nat Genet. 2011 Sep 11; 43(10):996-1000.
Score: 0.002
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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. Atherosclerosis. 2011 Dec; 219(2):737-42.
Score: 0.002
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Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion. Am J Med Genet A. 2011 Sep; 155A(9):2215-20.
Score: 0.002
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Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet. 2011 Jun; 7(6):e1002118.
Score: 0.002
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Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2. Am J Med Genet A. 2011 Jul; 155A(7):1574-80.
Score: 0.002
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Olfactory copy number association with age at onset of Alzheimer disease. Neurology. 2011 Apr 12; 76(15):1302-9.
Score: 0.002
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Left ventricular noncompaction in Sotos syndrome. Am J Med Genet A. 2011 May; 155A(5):1115-8.
Score: 0.002
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Early patterns of gene expression correlate with the humoral immune response to influenza vaccination in humans. J Infect Dis. 2011 Apr 01; 203(7):921-9.
Score: 0.002
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.002
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Dilation of the aortic root in mitochondrial disease patients. Mol Genet Metab. 2011 Jun; 103(2):167-70.
Score: 0.002
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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 15; 108(7):2915-20.
Score: 0.002
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Evaluation of lymphoid-specific enhancer addition or substitution in a basic retrovirus vector. Hum Gene Ther. 1991; 2(4):307-15.
Score: 0.002
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Effects of leukemia inhibitory factor (LIF) on gene transfer efficiency into murine hematolymphoid progenitors. Adv Exp Med Biol. 1991; 292:131-8.
Score: 0.002
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The use of TeleMedicine in the treatment of paediatric obesity: feasibility and acceptability. Matern Child Nutr. 2011 Jan; 7(1):71-9.
Score: 0.002
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Suspected trisomy 22: Modification, clarification, or confirmation of the diagnosis by aCGH. Am J Med Genet A. 2011 Feb; 155A(2):434-8.
Score: 0.002
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CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet. 2011 Jan; 43(1):72-8.
Score: 0.002
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Hyperammonemia and neonatal herpes simplex pneumonitis. Pediatr Infect Dis J. 1990 Oct; 9(10):749-50.
Score: 0.002
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Novel cardiac findings in periventricular nodular heterotopia. Am J Med Genet A. 2010 Jan; 152A(1):165-8.
Score: 0.002
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Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.002
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PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome. Pediatr Cardiol. 2010 Jan; 31(1):114-6.
Score: 0.002
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An ancestry informative marker set for determining continental origin: validation and extension using human genome diversity panels. BMC Genet. 2009 Jul 24; 10:39.
Score: 0.002
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Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly. Mol Genet Metab. 2009 Sep-Oct; 98(1-2):225-34.
Score: 0.002
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BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. Eur J Hum Genet. 2009 Oct; 17(10):1325-35.
Score: 0.002
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Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America. Hum Mutat. 2009 Jan; 30(1):69-78.
Score: 0.002
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The Twiddling Andersen. Tex Heart Inst J. 2009; 36(4):349-51.
Score: 0.002
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Expression vectors for human adenosine deaminase gene therapy. Genome. 1989; 31(2):832-9.
Score: 0.002
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Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet. 2009 Mar 01; 18(5):861-71.
Score: 0.002
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Analysis of East Asia genetic substructure using genome-wide SNP arrays. PLoS One. 2008; 3(12):e3862.
Score: 0.002
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec; 40(12):1466-71.
Score: 0.002
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Expression of human adenosine deaminase in murine hematopoietic cells. Mol Cell Biol. 1988 Dec; 8(12):5116-25.
Score: 0.002
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20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75.
Score: 0.002
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Lipocalin 2 is required for BCR-ABL-induced tumorigenesis. Oncogene. 2008 Oct 16; 27(47):6110-9.
Score: 0.002
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A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007 Oct 18; 449(7164):851-61.
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Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol. 2003 Sep; 54(3):398-402.
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PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Hum Mutat. 2002 Oct; 20(4):298-304.
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Exclusion of PITX2 mutations as a major cause of CHARGE association. Am J Med Genet. 2002 Jul 22; 111(1):27-30.
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A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development. 2002 May; 129(9):2293-302.
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Enzyme-replacement therapy in mucopolysaccharidosis I. N Engl J Med. 2001 Jan 18; 344(3):182-8.
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Zinc-induced anemia and neutropenia in an adolescent. J Pediatr. 2000 May; 136(5):688-90.
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Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am J Hum Genet. 1999 Mar; 64(3):712-21.
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Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing. J Med Genet. 1998 Aug; 35(8):646-9.
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Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6. Genome Res. 1998 Jan; 8(1):29-40.
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DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression. Hum Mutat. 1998; 11(2):121-6.
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A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. J Clin Invest. 1996 Jan 01; 97(1):196-201.
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In vivo marking of spontaneous or vaccine-induced fibrosarcomas in the domestic house cat, using an adenoviral vector containing a bifunctional fusion protein, GAL-TEK. Hum Gene Ther. 1995 Sep; 6(9):1215-23.
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Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. Mamm Genome. 1995 May; 6(5):334-8.
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Mild phenotypic effects of a de novo deletion Xpter-->Xp22.3 and duplication 3pter-->3p23. Am J Med Genet. 1995 Mar 13; 56(1):16-21.
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Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase elk to a 200-kilobasepair region in human chromosome Xq12. Genomics. 1995 Jan 01; 25(1):334-5.
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Parental origin of the extra chromosomes in polysomy X. Hum Genet. 1994 Oct; 94(4):423-6.
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The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia. Immunogenetics. 1994; 40(5):319-24.
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Aqueous tube-shunt implantation and pars plana vitrectomy in eyes with refractory glaucoma. Am J Ophthalmol. 1993 Aug 15; 116(2):189-95.
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Expression of human CD18 in murine granulocytes and improved efficiency for infection of deficient human lymphoblasts. Hum Gene Ther. 1993 Feb; 4(1):25-34.
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Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22. Genomics. 1993 Feb; 15(2):342-9.
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Fatal infantile encephalopathy with olivopontocerebellar hypoplasia and micrencephaly. Report of three siblings. Acta Neuropathol. 1993; 85(4):394-9.
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Use of cell-free retroviral vector preparations for transduction of cells from the marrow of chronic phase and blast crisis chronic myelogenous leukemia patients and from normal individuals. Hum Gene Ther. 1992 Apr; 3(2):137-45.
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Characterization of two missense mutations in human galactose-1-phosphate uridyltransferase: different molecular mechanisms for galactosemia. Genomics. 1992 Mar; 12(3):596-600.
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Gene transfer of adenosine deaminase into primitive human hematopoietic progenitor cells. Hum Gene Ther. 1991; 2(3):203-13.
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Gene therapy: a new approach for the treatment of genetic disorders. Clin Pharmacol Ther. 1990 Jan; 47(1):1-11.
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Human gene expression in murine hemopoietic cells in vivo. Adv Exp Med Biol. 1988; 241:123-7.
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Gene replacement therapy for inborn errors of purine metabolism. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 2:1065-71.
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