Faisal Zafar

Multan, PB, Pakistan

Last Updated: 09/26/2026

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Found 17 publications

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Journal: Clinical genetics

Published: February 26, 2026

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Journal: Clinical genetics

Published: February 26, 2026

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

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 07, 2023

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

Journal: Brain : a journal of neurology

Published: June 25, 2023

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice.

Journal: Frontiers in molecular neuroscience

Published: May 15, 2023

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations.

Journal: Brain : a journal of neurology

Published: March 08, 2023

Comparison of Efficacy and Safety of Low- Versus High-Dose Oral Prednisolone in Infantile Spasm (IS): An Open Label Randomized Controlled Trial at the Children's Hospital & Institute of Child Health, Multan, Pakistan.

Comparison of Efficacy and Safety of Low- Versus High-Dose Oral Prednisolone in Infantile Spasm (IS): An Open Label Randomized Controlled Trial at the Children's Hospital & Institute of Child Health, Multan, Pakistan.

Journal: Cureus

Published: March 14, 2022

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.

AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.

Journal: European journal of medical genetics

Published: November 17, 2021

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.

Journal: Journal of medical genetics

Published: March 19, 2020

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Journal: American journal of human genetics

Published: February 25, 2020

Showing 1-12 of 17

Last Updated: 09/26/2026