Ansar A. Abbasi

Muzaffarabad, JK, Pakistan

Last Updated: 09/26/2026

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Found 12 publications

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Journal: Frontiers in genetics
Published: September 19, 2025

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics.

Journal: Molecular medicine (Cambridge, Mass.)
Published: July 22, 2025

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.

Journal: Molecular diagnosis & therapy
Published: April 13, 2025

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.

Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades.

Journal: Journal of cellular and molecular medicine
Published: June 25, 2023

The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.

The molecular genetics of UV-Sensitive syndrome: A rare dermal anomaly.

Journal: JPMA. The Journal of the Pakistan Medical Association
Published: January 02, 2022

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.

Journal: Gene
Published: December 09, 2021

Zebrafish modeling mimics developmental phenotype of patients with RAPGEF1 mutation.

Zebrafish modeling mimics developmental phenotype of patients with RAPGEF1 mutation.

Journal: Clinical genetics
Published: December 24, 2020

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.

Journal: Molecular genetics & genomic medicine
Published: January 16, 2019

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.

Mutations in the tRNA methyltransferase 1 gene TRMT1 cause congenital microcephaly, isolated inferior vermian hypoplasia and cystic leukomalacia in addition to intellectual disability.

Journal: American journal of medical genetics. Part A
Published: October 11, 2017

Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.

Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.

Journal: American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
Published: July 06, 2017

Genetic causes of MCPH in consanguineous Pakistani families.

Genetic causes of MCPH in consanguineous Pakistani families.

Journal: Clinical genetics
Published: July 23, 2015

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.

Journal: American journal of human genetics
Published: June 06, 2014
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Last Updated: 09/26/2026