Associated Papers
Whole-exome sequencing for genetic screening in high-risk populations: Insights from consanguineous Palestinian families.
Hodrob T et al.
Journal of Genetic Counseling, 2025
Identification of novel TMEM231 gene splice variants and pathological findings in a fetus with Meckel Syndrome.
Zhang Q et al.
Frontiers in Genetics, 2023
37736303 (PubMed )
Supplement: Table1.xlsx › Sheet1
Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.
Watson CM et al.
Human Mutation, 2020
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
Maglic D et al.
Human Mutation, 2016
TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
Roberson EC et al.
The Journal of Cell Biology, 2015
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