Sheraz Khan

Islamabad, IS, Pakistan

Last Updated: 09/26/2026

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Found 14 publications

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Journal: medRxiv : the preprint server for health sciences

Published: July 15, 2024

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling.

Journal: American journal of human genetics

Published: July 10, 2024

Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.

Genetic Investigation and Transcriptome Profiling in a Nuclear Family With Peutz-Jeghers Syndrome.

Journal: Human mutation

Published: March 14, 2024

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

Journal: Nature communications

Published: January 30, 2024

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

Journal: medRxiv : the preprint server for health sciences

Published: January 23, 2024

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.

Journal: American journal of medical genetics. Part A

Published: March 01, 2023

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

Journal: Brain : a journal of neurology

Published: January 27, 2023

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.

NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.

Journal: Molecular genetics and genomics : MGG

Published: April 14, 2022

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family.

Journal: Genes

Published: August 23, 2021

A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report.

A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report.

Journal: Biomedical reports

Published: August 03, 2021

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.

A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss.

Journal: Human genetics

Published: April 26, 2021

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, RAD50 and PCNT Variants Exacerbating Disease Caused by Biallelic Mutations of ASPM and CENPJ.

Journal: Genes

Published: April 16, 2021

Showing 1-12 of 14

Last Updated: 09/26/2026