Abid Jan

Challenges and solutions for gene identification in the presence of familial locus heterogeneity

Atteeq U. Rehman, Regie Lyn P. Santos‐Cortez, Meghan C. Drummond et al. · European Journal of Human Genetics · 2014 · 38 citations · Full text

Disease Heterogeneity, Genetic Analysis, Haplotype Determination +13

Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3

Muhammad Umair, Bader Alhaddad, Afzal Rafique et al. · Pediatric Research · 2017 · 33 citations · Full text

Sclerostin, Developmental Biology, Exome Sequencing +7

Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families

Muhammad Umair, Annum Hassan, Abid Jan et al. · Journal of Human Genetics · 2015 · 31 citations · Full text

Homozygous Sequence Variants, Sclerostin, Developmental Biology +11

Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.

Asmat Ullah, Muhammad Umair, Maryam Yousaf et al. · PubMed · 2017 · 31 citations · Full text

A novel deletion mutation in the<i>DSG4</i>gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families

Asmat Ullah, Syed Irfan Raza, Raja Hussain Ali et al. · Clinical and Experimental Dermatology · 2014 · 26 citations