Associated Papers
Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
Clabout T et al.
Genes, 2022
Segregating patterns of copy number variations in extended autism spectrum disorder (ASD) pedigrees.
Woodbury-Smith M et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2020
Identification of Novel PTPRQ and MYO1A Mutations in An Iranian Pedigree with Autosomal Recessive Hearing Loss.
Talebi F et al.
Cell Journal, 2018
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Torrezan GT et al.
Frontiers in Genetics, 2018
29868112 (PubMed )
Supplement: Table_1.DOCX
Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage.
Dale B et al.
Npj Genomic Medicine, 2017
29263838 (PubMed )
Supplement: 41525_2017_31_MOESM3_ESM.xlsx › Sheet1
A genotypic ascertainment approach to refute the association of MYO1A variants with non-syndromic deafness.
Patton J et al.
European Journal of Human Genetics : Ejhg, 2016
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
Wu H et al.
Plos One, 2016
Analysis of Low Frequency Protein Truncating Stop-Codon Variants and Fasting Concentration of Growth Hormone.
Hallengren E et al.
Plos One, 2015
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafness.
Eisenberger T et al.
Human Mutation, 2014
Human deafness mutation E385D disrupts the mechanochemical coupling and subcellular targeting of myosin-1a.
Yengo CM et al.
Biophysical Journal, 2008
Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.
Donaudy F et al.
American Journal of Human Genetics, 2003
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