Soma Das to Male
This is a "connection" page, showing publications Soma Das has written about Male.
Connection Strength
0.331
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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206.
Score: 0.033
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Clinical exome sequencing: the new standard in genetic diagnosis. JAMA Neurol. 2014 Oct; 71(10):1215-6.
Score: 0.026
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The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011 Jun; 48(6):396-406.
Score: 0.020
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Intragenic deletions and duplications of the LIS1 and DCX genes: a major disease-causing mechanism in lissencephaly and subcortical band heterotopia. Eur J Hum Genet. 2009 Jul; 17(7):911-8.
Score: 0.017
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NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med. 2005 Oct; 7(8):524-33.
Score: 0.014
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Germline Variants Incidentally Detected via Tumor-Only Genomic Profiling of Patients With Mesothelioma. JAMA Netw Open. 2023 08 01; 6(8):e2327351.
Score: 0.012
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Characterization of mutations in fifty North American patients with X-linked myotubular myopathy. Hum Mutat. 2002 Feb; 19(2):114-21.
Score: 0.011
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Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer. Leukemia. 2021 11; 35(11):3245-3256.
Score: 0.010
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Germline variants drive myelodysplastic syndrome in young adults. Leukemia. 2021 08; 35(8):2439-2444.
Score: 0.010
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Heterozygous germ line CSF3R variants as risk alleles for development of hematologic malignancies. Blood Adv. 2020 10 27; 4(20):5269-5284.
Score: 0.010
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Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities. Am J Hum Genet. 2000 Dec; 67(6):1586-91.
Score: 0.010
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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance. Am J Hum Genet. 2018 12 06; 103(6):1009-1021.
Score: 0.009
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Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
Score: 0.008
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Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms. Blood Adv. 2018 01 09; 2(1):36-48.
Score: 0.008
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Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. Eur J Hum Genet. 2016 May; 24(5):681-9.
Score: 0.007
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A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings. J Hum Genet. 2015 Jul; 60(7):363-9.
Score: 0.007
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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62.
Score: 0.007
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Survey of knowledge-attitude-practice concerning insulin use in adult diabetic patients in eastern India. Indian J Pharmacol. 2014 Jul-Aug; 46(4):425-9.
Score: 0.006
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Dose-finding and pharmacokinetic study to optimize the dosing of irinotecan according to the UGT1A1 genotype of patients with cancer. J Clin Oncol. 2014 Aug 01; 32(22):2328-34.
Score: 0.006
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Disclosure of genetic research results to members of a founder population. J Genet Couns. 2014 Dec; 23(6):984-91.
Score: 0.006
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Adoption of a clinical pharmacogenomics implementation program during outpatient care--initial results of the University of Chicago "1,200 Patients Project". Am J Med Genet C Semin Med Genet. 2014 Mar; 166C(1):68-75.
Score: 0.006
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Development of a genomic DNA reference material panel for Rett syndrome (MECP2-related disorders) genetic testing. J Mol Diagn. 2014 Mar; 16(2):273-9.
Score: 0.006
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Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case. Gene. 2014 Mar 10; 537(2):279-84.
Score: 0.006
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Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome. Nat Genet. 2013 May; 45(5):556-62.
Score: 0.006
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Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet. 2011 Apr 01; 20(7):1285-9.
Score: 0.005
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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42.
Score: 0.005
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A novel missense mutation in LIS1 in a child with subcortical band heterotopia and pachygyria inherited from his mildly affected mother with somatic mosaicism. J Child Neurol. 2010 Jun; 25(6):738-41.
Score: 0.005
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Comprehensive pharmacogenetic analysis of irinotecan neutropenia and pharmacokinetics. J Clin Oncol. 2009 Jun 01; 27(16):2604-14.
Score: 0.004
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Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet A. 2008 Feb 01; 146A(3):354-60.
Score: 0.004
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Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group. Blood. 2008 Mar 15; 111(6):2984-90.
Score: 0.004
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Phase II trial of irinotecan in children with refractory solid tumors: a Children's Oncology Group Study. J Clin Oncol. 2007 Oct 10; 25(29):4622-7.
Score: 0.004
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A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med. 2007 Jul; 9(7):413-26.
Score: 0.004
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Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). Am J Ophthalmol. 2005 Aug; 140(2):267-74.
Score: 0.003
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Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug; 77(2):193-204.
Score: 0.003
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Haplotypes of variants in the UDP-glucuronosyltransferase1A9 and 1A1 genes. Pharmacogenet Genomics. 2005 May; 15(5):295-301.
Score: 0.003
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Pharmacogenetic risk factors for osteonecrosis of the hip among children with leukemia. J Clin Oncol. 2004 Oct 01; 22(19):3930-6.
Score: 0.003
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Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan. J Clin Oncol. 2004 Apr 15; 22(8):1382-8.
Score: 0.003
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Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat. 2004 Feb; 23(2):147-159.
Score: 0.003
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Effects of prednisone and genetic polymorphisms on etoposide disposition in children with acute lymphoblastic leukemia. Blood. 2004 Jan 01; 103(1):67-72.
Score: 0.003
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Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. Ann Neurol. 2003 Jul; 54(1):30-7.
Score: 0.003
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A pharmacogenetic study of uridine diphosphate-glucuronosyltransferase 2B7 in patients receiving morphine. Clin Pharmacol Ther. 2003 Jun; 73(6):566-74.
Score: 0.003
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Progressive dystonia in a 12-year-old boy. Eur J Paediatr Neurol. 2003; 7(2):85-8.
Score: 0.003
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Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females. Brain. 2002 Nov; 125(Pt 11):2507-22.
Score: 0.003