Associated Papers
THSD1 Is a Multifaceted Regulator in Health and Disease.
Dai M et al.
Biomedicines, 2025
Resolving fetal hydrops - A rare entity.
Saxena D et al.
European Journal of Medical Genetics, 2023
Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.
Tan IL et al.
Cell Reports, 2023
37917583 (PubMed )
Supplement: NIHMS1948186-supplement-2.xlsx › All-Pat-ClinVar_Coding
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
DALIA- a comprehensive resource of Disease Alleles in Arab population.
Vatsyayan A et al.
Plos One, 2021
33439861 (PubMed )
Supplement: pone.0244567.s011.xlsx › Sheet1
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
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
Identification of embryonic lethal genes in humans by autozygosity mapping and exome sequencing in consanguineous families.
Shamseldin HE et al.
Genome Biology, 2015
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