Associated Papers
Genetic diseases underlying a spectrum of fetal effusions.
Gulrajani NB et al.
American Journal of Obstetrics and Gynecology, 2025
Approaches to Evaluate Whole Exome Sequencing Data That Incorporate Genetic Intolerance Scores for Congenital Anomalies, Including Intronic Regions Adjacent to Exons.
Taniguchi K et al.
Molecular Genetics & Genomic Medicine, 2025
40078074 (PubMed )
Supplement: MGG3-13-e70092-s002.xlsx › Supplementary_Table_1
An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.
Clayton JS et al.
Human Mutation, 2024
40225930 (PubMed )
Supplement: 6496088.f1.docx
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37872195 (PubMed )
Supplement: 41525_2023_382_MOESM1_ESM.pdf
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Hgg Advances, 2023
37457373 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A et al.
Npj Genomic Medicine, 2023
37236975 (PubMed )
Supplement: 41525_2023_353_MOESM1_ESM.pdf
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.
Chong JX et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36945405 (PubMed )
Supplement: media-2.xlsx › Table_S1
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ et al.
Journal of Medical Genetics, 2023
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