JOHN BELMONT to Mutation
This is a "connection" page, showing publications JOHN BELMONT has written about Mutation.
Connection Strength
1.232
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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: 0.191
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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: 0.131
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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: 0.108
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SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet. 2004 Jul; 41(7):e94.
Score: 0.089
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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: 0.086
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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: 0.061
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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: 0.055
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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: 0.052
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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: 0.039
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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: 0.036
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Genetic disorders with both hearing loss and cardiovascular abnormalities. Adv Otorhinolaryngol. 2011; 70:66-74.
Score: 0.035
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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: 0.032
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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: 0.031
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Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet. 2007 Nov; 81(5):987-94.
Score: 0.028
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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: 0.025
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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.
Score: 0.020
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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: 0.019
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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: 0.017
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The molecular basis of vascular disorders. Am J Hum Genet. 1999 Mar; 64(3):678-84.
Score: 0.015
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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: 0.015
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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: 0.015
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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: 0.014
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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: 0.013
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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: 0.013
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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: 0.012
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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.
Score: 0.009
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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: 0.009
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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: 0.009
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Left ventricular noncompaction in Sotos syndrome. Am J Med Genet A. 2011 May; 155A(5):1115-8.
Score: 0.009
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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: 0.009
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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: 0.008
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Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet. 2008 Jul; 83(1):18-29.
Score: 0.007
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Sesn1 is a novel gene for left-right asymmetry and mediating nodal signaling. Hum Mol Genet. 2006 Nov 15; 15(22):3369-77.
Score: 0.007
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Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics. 2004 Oct; 114(4):925-31.
Score: 0.006
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Further associations of congenital heart disease and genetic syndromes: report of a case of tetralogy of Fallot and Fabry's disease. Pediatr Cardiol. 1999 May-Jun; 20(3):236-7.
Score: 0.004
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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.
Score: 0.004