Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders.
Batkovskyte D et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Byrne AB et al.
Nature Medicine, 2023
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201
Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene.
García-Ortiz L et al.
American Journal of Medical Genetics. Part A, 2015
Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
Ben-Salem S et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2013
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation.
Le Goff C et al.
Nature Genetics, 2008
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