Tahir Naeem Khan
Lurie Children's Hospital(US)IQVIA (United Kingdom)(GB)Saudi Arabia Basic Industries (Saudi Arabia)(SA)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Renal Diseases and Glomerulopathies, Ubiquitin and proteasome pathways, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly(2013)121 cited
- → Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features(2017)113 cited
- → De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder(2017)108 cited
- → Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia(2018)81 cited
- → Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation(2014)48 cited
- → Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies(2019)