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American Journal of Medical Genetics. Part A|January 4, 2026
Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic SeverityAzmatullah Khan, Naseebullah Kakar, Ainullah Kakar, et al.
BMC Medical Genetics|November 19, 2008
A novel HSF4 gene mutation (p.R405X) causing autosomal recessive congenital cataracts in a large consanguineous family from PakistanNaheed Sajjad, Ingrid Goebel, Naseebullah Kakar, et al.
Molecular Biology Reports|September 4, 2008
Prevalence of hepatitis C virus (HCV) genotypes in BalochistanSarwat Afridi, Muhammad Naeem, Abid Hussain, et al.
Human Genome Variation|May 23, 2023
A novel frameshift variant in UBA2 causing split-hand/foot malformations in a Pakistani familyAsia Parveen, Muhammad Tariq, Sher Alam Khan, et al.
American Journal of Medical Genetics. Part A|February 26, 2013
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndromeKatalin Szakszon, Carmelo Salpietro, Naseebullah Kakar, et al.
American Journal of Medical Genetics. Part A|December 23, 2017
Expanding the phenotype associated with biallelic WDR60 mutations: Siblings with retinal degeneration and polydactyly lacking other features of short rib thoracic dystrophiesNaseebullah Kakar, Denise Horn, Eva Decker, et al.
Health Science Reports|July 9, 2026
Familial Aggregation and Poor Childhood Survival in Thalassemia Despite Early Diagnosis: A Longitudinal Study From Balochistan, PakistanAzmatullah Khan, Wardha Shamim Lodhi, Muhammad Qasim Khan, et al.
Molecular Biology Reports|January 6, 2012
A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani familyRashida Hussain, Shakeela Daud, Naseebullah Kakar, et al.
European Journal of Medical Genetics|September 20, 2012
A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephalyNaseebullah Kakar, Ingrid Goebel, Shakeela Daud, et al.
Clinical Genetics|January 18, 2025
Haplotype Phasing of Biallelic WNT10B Variants Using Long-Read Sequencing in Split-Hand/Foot Malformation SyndromeJelena Pozojevic, Naseebullah Kakar, Henrike L Sczakiel, et al.
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