Gaurav V. Harlalka

Barrack Road
Exeter, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 27 publications

Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.

Overlapping neurological phenotypes in two extended consanguineous families with novel variants in the CNTNAP1 and ADGRG1 genes.

Journal: The journal of gene medicine

Published: January 05, 2023

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 21, 2022

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.

Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice.

Journal: PLoS genetics

Published: September 26, 2021

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).

Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B).

Journal: NPJ genomic medicine

Published: July 02, 2021

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.

A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.

Journal: American journal of medical genetics. Part A

Published: April 27, 2021

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.

Variants in NIPAL4 and ALOXE3 cause autosomal recessive congenital ichthyosis in Pakistani families.

Journal: Congenital anomalies

Published: July 03, 2019

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families.

Journal: BMC medical genetics

Published: May 22, 2019

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.

Journal: BMC medical genetics

Published: April 25, 2019

MNS1 variant associated with situs inversus and male infertility.

MNS1 variant associated with situs inversus and male infertility.

Journal: European journal of human genetics : EJHG

Published: March 27, 2019

Delineating the expanding phenotype associated with SCAPER gene mutation.

Delineating the expanding phenotype associated with SCAPER gene mutation.

Journal: American journal of medical genetics. Part A

Published: March 13, 2019

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.

BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.

Journal: Annals of human genetics

Published: September 02, 2018

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.

Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families.

Journal: Eye (London, England)

Published: August 18, 2018

Showing 1-12 of 27

Last Updated: 09/26/2026