Associated Papers
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Residual risk for additional recessive diseases in consanguineous couples.
AlAbdi L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Further delineation of MYO18B-related autosomal recessive Klippel-Feil syndrome with myopathy and facial dysmorphism.
Altuame FD et al.
American Journal of Medical Genetics. Part A, 2021
Multifaceted Function of Myosin-18, an Unconventional Class of the Myosin Superfamily.
Ouyang Z et al.
Frontiers in Cell and Developmental Biology, 2021
Novel truncating mutations of MYO18B causing congenital myopathy in a Swiss patient.
Mihaylova V et al.
Neurology. Genetics, 2020
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
A novel pathogenic variant in MYO18B associating early-onset muscular hypotonia, and characteristic dysmorphic features, delineation of the phenotypic spectrum of MYO18B-related conditions.
Brunet T et al.
Gene, 2020
The mutational burden and oligogenic inheritance in Klippel-Feil syndrome.
Li Z et al.
Bmc Musculoskeletal Disorders, 2020
Myosins and Disease.
Coluccio LM
Advances in Experimental Medicine and Biology, 2020
Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.
Schieffer KM et al.
European Journal of Medical Genetics, 2019
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Accelerating matchmaking of novel dysmorphology syndromes through clinical and genomic characterization of a large cohort.
Shaheen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.
Bayram Y et al.
The Journal of Clinical Investigation, 2016
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
Alazami AM et al.
Journal of Medical Genetics, 2015