Srirangan Sampath

Medical Genetics
7144 13th Pl Nw
Washington, DC 20012

Last Updated: 09/26/2026

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Found 7 publications

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

Journal: Human mutation
Published: March 27, 2019

TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.

TASP1 is deleted in an infant with developmental delay, microcephaly, distinctive facial features, and multiple congenital anomalies.

Journal: Clinical genetics
Published: March 01, 2018

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.

Journal: Journal of inherited metabolic disease
Published: December 05, 2016

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.

Journal: European journal of human genetics : EJHG
Published: April 12, 2013

Defining the contribution of CNTNAP2 to autism susceptibility.

Defining the contribution of CNTNAP2 to autism susceptibility.

Journal: PloS one
Published: February 03, 2013

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.

Journal: European journal of human genetics : EJHG
Published: May 24, 2012

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.

Journal: Human molecular genetics
Published: May 01, 2012
Showing 1-7 of 7

Last Updated: 09/26/2026