Associated Papers
Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review.
Sell LB et al.
Muscle & Nerve, 2026
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Bowling KM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
31618753 (PubMed )
Supplement: NIHMS1541080-supplement-Supp_Tables_1-2.xlsx › Supp_Table_1
CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review.
Sabbagh S et al.
Case Reports in Medicine, 2020
CNTNAP1 mutations in an adult with Charcot Marie Tooth disease.
Freed AS et al.
Muscle & Nerve, 2019
CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.
Hengel H et al.
Neurology. Genetics, 2017
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A et al.
Human Molecular Genetics, 2014
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