Publications by authors named "Huda Mahmood"

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New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.
Sarah L Dugan, Renee T Temme, Rebecca A Olson, Anna Mikhailov, Rosalind Law, Huda Mahmood

Am J Med Genet A· June 2015

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Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.
Muhammad Arshad Rafiq, Claire S Leblond, Muhammad Arif Nadeem Saqib, Akshita K Vincent, Amirthagowri Ambalavanan, Huda Mahmood

BMC Med Genet· June 2015

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Over-expression of either MECP2_e1 or MECP2_e2 in neuronally differentiated cells results in different patterns of gene expression.
Marija Orlic-Milacic, Liana Kaufman, Anna Mikhailov, Aaron Y L Cheung, Huda Mahmood

PLoS One· January 2015

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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, Nasim Vasli, Muhammad Arshad Rafiq, Huda Mahmood

Hum Genet· November 2014

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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, Nasim Vasli, Carolina Araujo, Huda Mahmood

Hum Genet· August 2014

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Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.
Gerald Egger, Katharina M Roetzer, Abdul Noor, Anath C Lionel, Huda Mahmood

Neurogenetics· May 2014

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