Publication & Citation Trends
Most Cited Works
Publications
169 total
Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency PDF
Cited by 112
OpenAlex
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss
Cited by 85
OpenAlex
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
Cited by 183
OpenAlex
Biallelic Truncating Mutations in FMN2, Encoding the Actin-Regulatory Protein Formin 2, Cause Nonsyndromic Autosomal-Recessive Intellectual Disability PDF
Cited by 71
OpenAlex
Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48 PDF
Cited by 249
OpenAlex
Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability PDF
Cited by 230
OpenAlex
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways PDF
Cited by 617
OpenAlex
Research Topics
Hearing, Cochlea, Tinnitus, Genetics
(23)
Skin and Cellular Biology Research
(19)
Genetics and Neurodevelopmental Disorders
(19)
RNA regulation and disease
(15)
Genomics and Rare Diseases
(14)
Frequent Co-Authors
Affiliations
Quaid-i-Azam University
Shaheed Benazir Bhutto University
Pakistan Health Research Council
Tadulako University
Balochistan University of Information Technology, Engineering and Management Sciences