Samarth Kulshrestha

New Delhi, DL, India

Last Updated: 09/26/2026

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Found 12 publications

Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.

Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.

Journal: European journal of medical genetics

Published: March 11, 2024

Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation.

Two-Compound Heterozygous Deletions Affecting TUBGCP6 in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation.

Journal: Molecular syndromology

Published: February 21, 2024

Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.

Role of next generation sequencing in diagnosis and management of critically ill children with suspected monogenic disorder.

Journal: European journal of human genetics : EJHG

Published: July 31, 2023

Next-Generation Sequencing in Unexplained Intellectual Disability.

Next-Generation Sequencing in Unexplained Intellectual Disability.

Journal: Indian journal of pediatrics

Published: December 11, 2022

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

Computational biology insights into genotype-clinical phenotype-protein phenotype relationships between novel SLC26A2 variants identified in inherited skeletal dysplasias.

Journal: European journal of medical genetics

Published: April 18, 2022

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.

Growth and neurodevelopmental disorder with arthrogryposis, microcephaly and structural brain anomalies caused by Bi-allelic partial deletion of SMPD4 gene.

Journal: Journal of human genetics

Published: May 22, 2021

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.

A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.

Journal: Human mutation

Published: November 02, 2020

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population.

Spectrum of mutations in genes associated with familial colorectal cancer syndrome (MLH1, MSH2, PMS2, MSH6, and APC): A not so common hereditary cancer syndrome in Indian population.

Journal: Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology

Published: March 24, 2020

Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.

Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.

Journal: Journal of clinical lipidology

Published: June 26, 2019

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Journal: American journal of human genetics

Published: February 08, 2019

A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.

A novel CHEK2 variant identified by next generation sequencing in an Indian family with hereditary breast cancer syndrome.

Journal: Cancer genetics

Published: November 11, 2018

Genome Sequencing.

Genome Sequencing.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: November 30, 2016

Showing 1-12 of 12

Last Updated: 09/26/2026