Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Identification of a new familial case of 3q29 deletion syndrome associated with cleft lip and palate via whole-exome sequencing.
Biedziak B et al.
American Journal of Medical Genetics. Part A, 2023
Clinical characterization of chromosome 5q21.1-21.3 microduplication: A case report.
Chen S et al.
Open Medicine (warsaw, Poland), 2020
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
Khaled ML et al.
Scientific Reports, 2019
Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
Yousaf R et al.
Plos Genetics, 2018
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