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Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.
Abu-Ameerh M, Mohammad H, Dardas Z, Barham R, Ali D, Bijawi M, Tawalbeh M, Amr S, Hatmal MM, Al-Bdour M, Awidi A, Azab B. Abu-Ameerh M, et al. Among authors: amr s. Mol Genet Genomic Med. 2020 Mar;8(3):e1123. doi: 10.1002/mgg3.1123. Epub 2020 Jan 22. Mol Genet Genomic Med. 2020. PMID: 31968401 Free PMC article.
Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.
Azab B, Dardas Z, Aburizeg D, Al-Bdour M, Abu-Ameerh M, Saleh T, Barham R, Maswadi R, Ababneh NA, Alsalem M, Zouk H, Amr S, Awidi A. Azab B, et al. Among authors: amr s. Genes (Basel). 2021 Apr 19;12(4):593. doi: 10.3390/genes12040593. Genes (Basel). 2021. PMID: 33921607 Free PMC article.
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.
Parzefall T, Frohne A, Koenighofer M, Neesen J, Laccone F, Eckl-Dorna J, Waters JJ, Schreiner M, Amr SS, Ashton E, Schoefer C, Gstœttner W, Frei K, Lucas T. Parzefall T, et al. Front Cell Neurosci. 2020 Nov 12;14:585669. doi: 10.3389/fncel.2020.585669. eCollection 2020. Front Cell Neurosci. 2020. PMID: 33281559 Free PMC article.
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J. Hirsch Y, et al. Among authors: amr ss. Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 4. Eur J Hum Genet. 2021. PMID: 33398081 Free PMC article.
274 results