Soma Das to Humans
This is a "connection" page, showing publications Soma Das has written about Humans.
Connection Strength
0.486
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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods. Hum Mutat. 2022 08; 43(8):1097-1113.
Score: 0.027
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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: 0.022
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Clinical exome sequencing: the new standard in genetic diagnosis. JAMA Neurol. 2014 Oct; 71(10):1215-6.
Score: 0.017
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The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing. Brain Dev. 2014 Apr; 36(4):351-5.
Score: 0.015
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CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77.
Score: 0.015
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Denaturing high-performance liquid chromatography for mutation detection and genotyping. Methods Mol Biol. 2013; 1015:25-54.
Score: 0.015
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Exome sequencing and the genetics of intellectual disability. Clin Genet. 2011 Aug; 80(2):117-26.
Score: 0.013
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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: 0.013
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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: 0.011
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Molecular genetic testing for ultra rare diseases: models for translation from the research laboratory to the CLIA-certified diagnostic laboratory. Genet Med. 2008 May; 10(5):332-6.
Score: 0.011
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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: 0.009
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Denaturing high-performance liquid chromatography for mutation detection and genotyping. Methods Mol Biol. 2005; 311:73-96.
Score: 0.008
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Significance of PTEN alterations in endometrial carcinoma: a population-based study of mutations, promoter methylation and PTEN protein expression. Int J Oncol. 2004 Dec; 25(6):1615-23.
Score: 0.008
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Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR. Genet Test. 2004; 8(4):387-94.
Score: 0.008
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Sequential tumor molecular profiling identifies likely germline variants. Genet Med. 2024 Mar; 26(3):101037.
Score: 0.008
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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: 0.008
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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change. Genet Med. 2023 Dec; 25(12):100947.
Score: 0.008
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Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies. Blood Adv. 2023 02 28; 7(4):549-554.
Score: 0.007
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Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome. Neurology. 2023 01 31; 100(5):e543-e554.
Score: 0.007
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Exome sequencing identifies PD-L2 as a potential predisposition gene for lymphoma. Hematol Oncol. 2022 Aug; 40(3):475-478.
Score: 0.007
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Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders. Hum Mutat. 2022 07; 43(7):950-962.
Score: 0.007
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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: 0.007
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Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 08; 23(8):1399-1415.
Score: 0.007
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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: 0.007
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Germline variants drive myelodysplastic syndrome in young adults. Leukemia. 2021 08; 35(8):2439-2444.
Score: 0.006
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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: 0.006
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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: 0.006
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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: 0.006
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Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Hum Mutat. 2018 11; 39(11):1641-1649.
Score: 0.006
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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: 0.005
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Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms. Blood Adv. 2018 01 09; 2(1):36-48.
Score: 0.005
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Molecular characterization of HDAC8 deletions in individuals with atypical Cornelia de Lange syndrome. J Hum Genet. 2018 Mar; 63(3):349-356.
Score: 0.005
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Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genet Med. 2017 10; 19(10):1096-1104.
Score: 0.005
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A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories. Genet Med. 2017 05; 19(5):575-582.
Score: 0.005
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Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach. J Pediatr Endocrinol Metab. 2016 May 01; 29(5):523-31.
Score: 0.005
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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: 0.004
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Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Honduran child with autosomal recessive primary microcephaly, failure to thrive and speech delay. Am J Med Genet A. 2015 Jun; 167(6):1414-7.
Score: 0.004
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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: 0.004
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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: 0.004
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015 May; 17(5):405-24.
Score: 0.004
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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: 0.004
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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: 0.004
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Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver. Hum Mol Genet. 2014 Oct 15; 23(20):5558-69.
Score: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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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: 0.004
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Clinical utility gene card for: Centronuclear and myotubular myopathies. Eur J Hum Genet. 2012 Oct; 20(10).
Score: 0.004
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Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy. Hum Mutat. 2012 Jun; 33(6):949-59.
Score: 0.004
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.003
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Novel mutations in siblings with later-onset PLA2G6-associated neurodegeneration (PLAN). Mov Disord. 2011 Aug 01; 26(9):1768-9.
Score: 0.003
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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: 0.003
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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: 0.003
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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: 0.003
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Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing. J Mol Diagn. 2009 Nov; 11(6):553-61.
Score: 0.003
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Comparison of performance of three commercial platforms for warfarin sensitivity genotyping. Clin Chim Acta. 2009 Aug; 406(1-2):143-7.
Score: 0.003
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Comprehensive pharmacogenetic analysis of irinotecan neutropenia and pharmacokinetics. J Clin Oncol. 2009 Jun 01; 27(16):2604-14.
Score: 0.003
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Single nucleotide polymorphism discovery and functional assessment of variation in the UDP-glucuronosyltransferase 2B7 gene. Pharmacogenet Genomics. 2008 Aug; 18(8):683-97.
Score: 0.003
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Genetic variants contributing to daunorubicin-induced cytotoxicity. Cancer Res. 2008 May 01; 68(9):3161-8.
Score: 0.003
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ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007. Genet Med. 2008 Apr; 10(4):294-300.
Score: 0.003
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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: 0.003
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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: 0.003
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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: 0.003
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Genetic polymorphisms in uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans. Breast Cancer Res Treat. 2008 Jul; 110(2):367-76.
Score: 0.003
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Lack of association between common polymorphisms in UGT1A9 and gene expression and activity. Drug Metab Dispos. 2007 Dec; 35(12):2149-53.
Score: 0.003
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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: 0.003
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UDP-Glucuronosyltransferase 1A1 gene polymorphisms and total bilirubin levels in an ethnically diverse cohort of women. Drug Metab Dispos. 2007 Aug; 35(8):1254-61.
Score: 0.002
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Ancestry and pharmacogenetics of antileukemic drug toxicity. Blood. 2007 May 15; 109(10):4151-7.
Score: 0.002
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BRCA1 promoter methylation in sporadic breast cancer is associated with reduced BRCA1 copy number and chromosome 17 aneusomy. Cancer Res. 2005 Dec 01; 65(23):10692-9.
Score: 0.002
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Technical standards and guidelines: molecular genetic testing for ultra-rare disorders. Genet Med. 2005 Oct; 7(8):571-83.
Score: 0.002
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Clinical outcome and follow-up of the first reported case of Russell-Silver syndrome with the unique combination of maternal uniparental heterodisomy 7 and mosaic trisomy 7. Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):577-82.
Score: 0.002
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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: 0.002
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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: 0.002
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Haplotypes of variants in the UDP-glucuronosyltransferase1A9 and 1A1 genes. Pharmacogenet Genomics. 2005 May; 15(5):295-301.
Score: 0.002
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Global gene expression as a function of germline genetic variation. Hum Mol Genet. 2005 Jun 15; 14(12):1621-9.
Score: 0.002
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Pharmacogenetics of outcome in children with acute lymphoblastic leukemia. Blood. 2005 Jun 15; 105(12):4752-8.
Score: 0.002
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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: 0.002
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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: 0.002
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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: 0.002
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MYC is amplified in BRCA1-associated breast cancers. Clin Cancer Res. 2004 Jan 15; 10(2):499-507.
Score: 0.002
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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: 0.002
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Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia. J Clin Oncol. 2003 Aug 15; 21(16):3084-91.
Score: 0.002
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Characterization of multiple promoters in the human carboxylesterase 2 gene. Pharmacogenetics. 2003 Jul; 13(7):425-35.
Score: 0.002
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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: 0.002
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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: 0.002
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Interethnic difference in the allelic distribution of human epidermal growth factor receptor intron 1 polymorphism. Clin Cancer Res. 2003 Mar; 9(3):1009-12.
Score: 0.002
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Progressive dystonia in a 12-year-old boy. Eur J Paediatr Neurol. 2003; 7(2):85-8.
Score: 0.002
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Haplotype structure of the UDP-glucuronosyltransferase 1A1 promoter in different ethnic groups. Pharmacogenetics. 2002 Dec; 12(9):725-33.
Score: 0.002
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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: 0.002
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Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1). Hum Mutat. 2002 Jan; 19(1):4-15.
Score: 0.002
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Loss of hMSH2 and hMSH6 expression is frequent in sporadic endometrial carcinomas with microsatellite instability: a population-based study. Clin Cancer Res. 2002 Jan; 8(1):138-43.
Score: 0.002