List of works - Muhammad Ansar

A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome

scientific article published on 10 August 2022

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

scientific article published on 01 October 2018

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features

scientific article published on 09 May 2019

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature

scientific article published on 10 October 2019

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature

scientific article published on 01 March 2019

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

scientific article published on 24 August 2017

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature

scientific article published on 04 March 2020

Correction: Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

scientific article published on 31 August 2018

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree

scientific article published on 16 July 2016

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.

scientific article published on 26 July 2016

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

scientific article

NS4A protein as a marker of HCV history suggests that different HCV genotypes originally evolved from genotype 1b ⬇️

scientific article published on June 23, 2011

New variants and in silico analyses in GRK1 associated Oguchi disease

scientific article published on 30 November 2020

RNAi as a new therapeutic strategy against HCV.

scientific article published on January 2010

Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice

scientific article published on 19 December 2013

Segregation of Incomplete Achromatopsia and Alopecia Due to PDE6H and LPAR6 Variants in a Consanguineous Family from Pakistan.

scientific article published on 27 July 2016

Stable Huh-7 cell lines expressing non-structural proteins of genotype 1a of hepatitis C virus ⬇️

scientific article published on January 23, 2013

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency

scientific article published on 01 March 2020

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

scientific article published on 01 August 2018

List of works by Muhammad Ansar