Musharraf Jelani

13PUBLICATIONS
38CO-AUTHORS
Gene mappingEpigenetics (incl. genome methylation and epigenomics)Electroanalytical chemistryMedical mycologyGene and molecular therapy
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Publications (13)

|May 08, 2026
The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individuals.

|May 16, 2023
Phenotypic Classification of Eye Colour and Developmental Validation of the Irisplex System on Population Living in Malakand Division, Pakistan.

Murad Ali Rahat, Fazal Akbar, Akhtar Rasool

|Apr 29, 2023
Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.

Qaiser Zaman, Aiman Iftikhar, Gauhar Rehman

|Feb 25, 2023
A Novel Homozygous Nonsense Variant in the DYM Underlies Dyggve-Melchior-Clausen Syndrome in Large Consanguineous Family.

Abu Bakar, Sulaiman Shams, Nousheen Bibi

|Feb 25, 2023
Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases.

Qaiser Zaman, Muhammad Abbas Khan, Kalsoom Sahar

|Jan 21, 2023
Report of Hermansky-Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes.

Qaiser Zaman, Sadeeda, Muhammad Anas

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Frequent Collaborators

4 joint publications

Qaiser Zaman

3 joint publications

Gauhar Rehman

3 joint publications

Osama Yousef Muthaffar

2 joint publications

Sulaiman Shams