Seham Alameer

Autozygome and high throughput confirmation of disease genes candidacy

Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al‐Owain et al. · Genetics in Medicine · 2018 · 118 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

Ahmed Alfares, Majid Alfadhel, Tariq Ahmad Wani et al. · Molecular Genetics and Metabolism · 2017 · 95 citations

Medicine, Clinical Sciences, Molecular Medicine +10

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

Christian Staufner, Bianca Peters, Matias Wagner et al. · Genetics in Medicine · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Phenotypic heterogeneity in Woodhouse–Sakati syndrome: Two new families with a mutation in the C2orf37 gene

Tawfeg Ben‐Omran, Rehab Ali, Mariam Al‐Mureikhi et al. · American Journal of Medical Genetics Part A · 2011 · 37 citations · Full text

Life Sciences, Endocrinology, Genetics +13

Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability

Aida M. Bertoli‐Avella, José María García-Aznar, Oliver Brandau et al. · European Journal of Human Genetics · 2018 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15