Associated Papers
THSD1 Is a Multifaceted Regulator in Health and Disease.
Dai M et al.
Biomedicines, 2025
Arab founder variants: Contributions to clinical genomics and precision medicine.
AlAbdi L et al.
Med (new York, N.y.), 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
Resolving fetal hydrops - A rare entity.
Saxena D et al.
European Journal of Medical Genetics, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Diagnostic yield from prenatal exome sequencing for non-immune hydrops fetalis: A systematic review and meta-analysis.
Al-Kouatly HB et al.
Clinical Genetics, 2023
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Al-Hamed MH et al.
Human Genetics, 2022
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE et al.
Genome Medicine, 2021
Manifestations of thrombospondin type-1 domain-containing protein 1 gene mutation in an extremely premature infant with nonimmune hydrops fetalis.
Al Rawi WN et al.
American Journal of Medical Genetics. Part A, 2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous family.
Abdelrahman HA et al.
American Journal of Medical Genetics. Part A, 2018
Molecular autopsy in maternal-fetal medicine.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Shamseldin HE et al.
Genome Biology, 2015