Associated Papers
Whole Exome Sequencing Uncovers Genetic Syndromes Associated with Orofacial Clefts presenting with Limb abnormalities in a Sub-Saharan African cohort.
Tackie E et al.
Research Square, 2025
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
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Morali B et al.
Clinical Genetics, 2024
Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.
Illés A et al.
Children (basel, Switzerland), 2024
Homologous mutations in human β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Liu C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Musculoskeletal defects associated with myosin heavy chain-embryonic loss of function are mediated by the YAP signaling pathway.
Bharadwaj A et al.
Embo Molecular Medicine, 2023
Homologous mutations in β, embryonic, and perinatal muscle myosins have divergent effects on molecular power generation.
Liu C et al.
Biorxiv : the Preprint Server for Biology, 2023
Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.
Falb RJ et al.
Journal of Medical Genetics, 2023
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort.
Rajala K et al.
Prenatal Diagnosis, 2022
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Bourgon N et al.
European Journal of Human Genetics : Ejhg, 2022
A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.
McAdow J et al.
Jci Insight, 2022
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Zhao S et al.
Npj Genomic Medicine, 2022
A case of blepharophimosis: Freeman Sheldon syndrome.
Bowman S et al.
Ophthalmic Genetics, 2022
Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome.
Whittle J et al.
Genes, 2021
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Lefebvre M et al.
Journal of Medical Genetics, 2021
Prolonged myosin binding increases muscle stiffness in Drosophila models of Freeman-Sheldon syndrome.
Bell KM et al.
Biophysical Journal, 2021
The Added Value of Whole-Exome Sequencing for Anomalous Fetuses With Detailed Prenatal Ultrasound and Postnatal Phenotype.
He M et al.
Frontiers in Genetics, 2021
MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin.
Whittle J et al.
Embo Molecular Medicine, 2020
Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.
Wang WB et al.
Molecular Medicine Reports, 2020
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Pehlivan D et al.
American Journal of Human Genetics, 2019
Myosin heavy chain mutations that cause Freeman-Sheldon syndrome lead to muscle structural and functional defects in Drosophila.
Das S et al.
Developmental Biology, 2019
A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.
Takagi M et al.
Journal of Human Genetics, 2018
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 2018
Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.
Ali AM et al.
Case Reports in Genetics, 2017
Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman-Sheldon Syndrome caused by a pathogenic MYH3 mutation.
Hague J et al.
American Journal of Medical Genetics. Part A, 2016
The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.
Walklate J et al.
The Journal of Biological Chemistry, 2016
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
Developmental myosins: expression patterns and functional significance.
Schiaffino S et al.
Skeletal Muscle, 2015
Genotype-phenotype relationships in Freeman-Sheldon syndrome.
Beck AE et al.
American Journal of Medical Genetics. Part A, 2014
Targeted capture and massively parallel sequencing of 12 human exomes.
Ng SB et al.
Nature, 2009
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
Toydemir RM et al.
Nature Genetics, 2006
A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.
Zhao N et al.
European Journal of Medical Genetics, 0