Associated Papers
Expanded noninvasive prenatal screening for dominant single-gene disorders: proof-of-concept, performance, and challenges.
Chen S et al.
American Journal of Obstetrics and Gynecology, 2025
MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.
Maassen WTK et al.
Nar Genomics and Bioinformatics, 2025
40585303 (PubMed )
Supplement: lqaf087_supplemental_files.zip › supplementary_table_3.pdf
Two Nonsense GLI3 Variants Are Identified in Two Chinese Families With Polydactyly.
Qi Y et al.
Molecular Genetics & Genomic Medicine, 2025
Identification of truncated variants in GLI family zinc finger 3 (GLI3) associated with polydactyly.
Wang RY et al.
Journal of Orthopaedic Surgery and Research, 2024
39080720 (PubMed )
Supplement: 13018_2024_4928_MOESM1_ESM.xlsx › Sheet1
A novel variant of GLI3, p.Asp1514Thrfs*5, is identified in a Chinese family affected by polydactyly.
Wang Y et al.
Molecular Genetics & Genomic Medicine, 2022
35546307 (PubMed )
Supplement: MGG3-10-e1968-s002.xlsx › table
Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Baas M et al.
Journal of Medical Genetics, 2021
32591344 (PubMed )
Supplement: jmedgenet-2020-106948supp001.pdf
Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation.
Mumtaz S et al.
European Journal of Medical Genetics, 2017
GLI3 mutations in syndromic and non-syndromic polydactyly in two Indian families.
Patel R et al.
Congenital Anomalies, 2016
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