Genetics of hearing loss in the Arab population of Northern Israel

[1]  M. Koenig,et al.  Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients , 2017, Scientific Reports.

[2]  Heba Abd El-Rehem Abo El-Naga,et al.  The risk ratio for development of hereditary sensorineural hearing loss in consanguineous marriage offspring. , 2017, International journal of pediatric otorhinolaryngology.

[3]  R. Pfundt,et al.  The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands , 2016, European Journal of Human Genetics.

[4]  P. Verstreken,et al.  Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function , 2016, Nature Structural &Molecular Biology.

[5]  Víctor Potenciano,et al.  A splice variant in the ACSL5 gene relates migraine with fatty acid activation in mitochondria , 2016, European Journal of Human Genetics.

[6]  Allen C. Simpson,et al.  Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran , 2015, Journal of Medical Genetics.

[7]  M. Mustapha,et al.  The 133-kDa N-terminal domain enables myosin 15 to maintain mechanotransducing stereocilia and is essential for hearing , 2015, eLife.

[8]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[9]  T. Strom,et al.  Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families , 2014, PloS one.

[10]  T. Hansen,et al.  Functional characterization of BRCA1 gene variants by mini-gene splicing assay , 2014, European Journal of Human Genetics.

[11]  J. Zlotogora Genetics and genomic medicine in Israel , 2014, Molecular genetics & genomic medicine.

[12]  J. Shendure,et al.  Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86. , 2014, American journal of human genetics.

[13]  Christian Gilissen,et al.  A Post‐Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases , 2013, Human mutation.

[14]  T. Walsh,et al.  Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families , 2011, Genome Biology.

[15]  G. Ast,et al.  Alternative splicing and evolution: diversification, exon definition and function , 2010, Nature Reviews Genetics.

[16]  J. Zlotogora,et al.  Genetic disorders among Palestinian Arabs. 4: Genetic clinics in the community , 2006, American journal of medical genetics. Part A.

[17]  Francisco E. Baralle,et al.  Genomic variants in exons and introns: identifying the splicing spoilers , 2004, Nature Reviews Genetics.

[18]  J. Zlotogora Molecular basis of autosomal recessive diseases among the Palestinian Arabs. , 2002, American journal of medical genetics.

[19]  Y. Raphael,et al.  The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells. , 2000, Human molecular genetics.

[20]  V. Sheffield,et al.  Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS) , 1997, Nature Genetics.

[21]  The UniProt Consortium UniProt: the universal protein knowledgebase , 2016, Nucleic Acids Res..

[22]  M. Metzker Sequencing technologies — the next generation , 2010, Nature Reviews Genetics.