Huda Mahmood

Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families

Gerald Egger, Katharina M. Roetzer, Abdul Noor et al. · Neurogenetics · 2014 · 115 citations

Life Sciences, Genetics, Molecular Genetics +17

Truncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani family

Asif Mir, Kumudesh Sritharan, Kirti Mittal et al. · Human Genetics · 2014 · 35 citations

Life Sciences, Genetics, Molecular Genetics +15

Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder

Iltaf Ahmed, Kirti Mittal, Taimoor I. Sheikh et al. · Human Genetics · 2014 · 33 citations

Life Sciences, Genetics, Molecular Genetics +8

Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Muhammad Rafiq, Claire S. Leblond, Muhammad Arif Nadeem Saqib et al. · BMC Medical Genetics · 2015 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mapping Autosomal Recessive Intellectual Disability: Combined Microarray and Exome Sequencing Identifies 26 Novel Candidate Genes in 192 Consanguineous Families

Ricardo Harripaul, Nasim Vasli, Anna Mikhailov et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2016 · 27 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17