Sohail A. Paracha

Kohat, KP, Pakistan

Last Updated: 09/26/2026

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Found 13 publications

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

Journal: Frontiers in medicine

Published: April 28, 2024

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.

Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet-Biedl Syndrome.

Journal: Genes

Published: April 08, 2023

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

Journal: Genes

Published: January 12, 2023

Success of 14-day triple and quadruple therapy for the control of Helicobacter pylori infections in Kohat district.

Success of 14-day triple and quadruple therapy for the control of Helicobacter pylori infections in Kohat district.

Journal: Drug target insights

Published: August 04, 2022

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

FOXI3 pathogenic variants cause one form of craniofacial microsomia.

Journal: Nature communications

Published: April 09, 2022

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.

Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.

Journal: NPJ genomic medicine

Published: May 25, 2021

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

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.

Journal: Human molecular genetics

Published: December 24, 2019

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiency.

Journal: Human molecular genetics

Published: November 08, 2019

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.

Journal: American journal of human genetics

Published: July 01, 2019

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.

Journal: American journal of human genetics

Published: January 17, 2019

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.

Journal: Human molecular genetics

Published: September 18, 2018

Showing 1-12 of 13

Last Updated: 09/26/2026