Associated Papers
Universal noninvasive prenatal diagnosis for monogenic disorders using cell-free plasma DNA.
Zhang L et al.
Genome Medicine, 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
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.
Peterlin A et al.
Life (basel, Switzerland), 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia.
Shen XM et al.
Annals of Clinical and Translational Neurology, 2023
Combining Gene Mutation with Expression of Candidate Genes to Improve Diagnosis of Escobar Syndrome.
Najjar D et al.
Genes, 2022
The Clinical and Genotypic Spectrum of Scoliosis in Multiple Pterygium Syndrome: A Case Series on 12 Children.
Dahan-Oliel N et al.
Genes, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 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
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
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Bayram Y et al.
The Journal of Clinical Investigation, 2016
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
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