Muhammad Ansar
Quaid-i-Azam University(PK)Dow University of Health Sciences(PK)Institut thématique Génétique, génomique et bioinformatique(FR)Fondation Asile des Aveugles(CH)University of Lausanne(CH)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Retinal Development and Disorders, Genomics and Rare Diseases, RNA modifications and cancer, RNA Research and Splicing
Most-Cited Works
- → Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders(2013)177 cited
- → Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability(2016)154 cited
- → Reduced Euchromatin histone methyltransferase 1 causes developmental delay, hypotonia, and cranial abnormalities associated with increased bone gene expression in Kleefstra syndrome mice(2013)75 cited
- → De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects(2020)61 cited
- → Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency(2019)60 cited
- → Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature