Associated Papers
Middle Eastern Genetic Variation Improves Clinical Annotation of the Human Genome.
Ramaswamy S et al.
Journal of Personalized Medicine, 2022
35330423 (PubMed )
Supplement: jpm-12-00423-s001.zip › Supplementary_Table.xlsx › Supp_Table3
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
Whole exome sequencing identifies c.963T > A and c.492 + 1G > A mutations in REN responsible for autosomal recessive renal tubular dysgenesis.
He G et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2021
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.
Al-Hamed MH et al.
Clinical Kidney Journal, 2016
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