Associated Papers
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
Pérez-Vidarte F et al.
Annals of Clinical and Translational Neurology, 2025
Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.
Al Kaissi A et al.
Minerva Pediatrics, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.
Almubarak A et al.
Genes, 2022
Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.
Najjar D et al.
Genes, 2022
Association of protein function-altering variants with cardiometabolic traits: the strong heart study.
Shan Y et al.
Scientific Reports, 2022
Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
Mellis R et al.
Bjog : an International Journal of Obstetrics and Gynaecology, 2022
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.
Pollazzon M et al.
Genes, 2021
The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.
Dahan-Oliel N et al.
Genes, 2021
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L et al.
American Journal of Medical Genetics. Part A, 2019
Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor.
Nazari T et al.
International Journal of Molecular and Cellular Medicine, 2019
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Normand EA et al.
Genome Medicine, 2018
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
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Chong JX et al.
American Journal of Human Genetics, 2015
Neuromotor synapses in Escobar syndrome.
Robinson KG et al.
American Journal of Medical Genetics. Part A, 2013
Is webbing (pterygia) a constant feature in patients with Escobar syndrome?
Al Kaissi A et al.
Orthopaedic Surgery, 2013
Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: a review.
Chen CP
Taiwanese Journal of Obstetrics & Gynecology, 2012
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
Vogt J et al.
Journal of Medical Genetics, 2012
Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.
Morgan NV et al.
American Journal of Human Genetics, 2006