Associated Papers
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
34645488 (PubMed )
Supplement: 13073_2021_973_MOESM1_ESM.xlsx › Sheet1
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
Abualsaud D et al.
American Journal of Medical Genetics. Part A, 2021
Characterizing the morbid genome of ciliopathies.
Shaheen R et al.
Genome Biology, 2016
Identification of a novel MKS locus defined by TMEM107 mutation.
Shaheen R et al.
Human Molecular Genetics, 2015
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