Associated Papers
Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?
Talati AN et al.
Prenatal Diagnosis, 2023
Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.
Biwei H et al.
Frontiers in Genetics, 2022
Prenatal Exome Sequencing in Recurrent Fetal Structural Anomalies: Systematic Review and Meta-Analysis.
Pauta M et al.
Journal of Clinical Medicine, 2021
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Vora NL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.
Jin JY et al.
The Journal of Gene Medicine, 2019
TP63-truncating variants cause isolated premature ovarian insufficiency.
Tucker EJ et al.
Human Mutation, 2019
Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins.
Wenger T et al.
American Journal of Medical Genetics. Part A, 2018
P63 mutations are not a major cause of non-syndromic split hand/foot malformation.
de Mollerat XJ et al.
Journal of Medical Genetics, 2003
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