Soma Das to Child, Preschool
This is a "connection" page, showing publications Soma Das has written about Child, Preschool.
Connection Strength
0.501
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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: 0.099
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CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77.
Score: 0.069
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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: 0.060
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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: 0.041
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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: 0.032
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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: 0.025
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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: 0.025
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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: 0.024
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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: 0.020
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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: 0.018
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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: 0.017
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Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov; 48(11):741-51.
Score: 0.016
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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: 0.014
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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: 0.012
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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: 0.012
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Pharmacogenetics of outcome in children with acute lymphoblastic leukemia. Blood. 2005 Jun 15; 105(12):4752-8.
Score: 0.010
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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: 0.008