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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Among authors: zhang k, zhang y. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss.
Patel MJ, DiStefano MT, Oza AM, Hughes MY, Wilcox EH, Hemphill SE, Cushman BJ, Grant AR, Siegert RK, Shen J, Chapin A, Boczek NJ, Schimmenti LA, Nara K, Kenna M, Azaiez H, Booth KT, Avraham KB, Kremer H, Griffith AJ, Rehm HL, Amr SS, Tayoun ANA; ClinGen Hearing Loss Clinical Domain Working Group. Patel MJ, et al. Genet Med. 2021 Nov;23(11):2208-2212. doi: 10.1038/s41436-021-01254-2. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230634 Free PMC article.
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing loss.
Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K, Riazuddin S, Riazuddin S, Ahmed ZM. Shahzad M, et al. Among authors: zhang k. Otolaryngol Head Neck Surg. 2013 Sep;149(3):478-87. doi: 10.1177/0194599813493075. Epub 2013 Jun 14. Otolaryngol Head Neck Surg. 2013. PMID: 23770805 Free PMC article.
Novel phenotype-disease matching tool for rare genetic diseases.
Chen J, Xu H, Jegga A, Zhang K, White PS, Zhang G. Chen J, et al. Among authors: zhang g, zhang k. Genet Med. 2019 Feb;21(2):339-346. doi: 10.1038/s41436-018-0050-4. Epub 2018 Jun 12. Genet Med. 2019. PMID: 29895857 Free article.
The struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.
Patel ZH, Kottyan LC, Lazaro S, Williams MS, Ledbetter DH, Tromp H, Rupert A, Kohram M, Wagner M, Husami A, Qian Y, Valencia CA, Zhang K, Hostetter MK, Harley JB, Kaufman KM. Patel ZH, et al. Among authors: zhang k. Front Genet. 2014 Feb 12;5:16. doi: 10.3389/fgene.2014.00016. eCollection 2014. Front Genet. 2014. PMID: 24575121 Free PMC article.
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.
Kaufman KM, Linghu B, Szustakowski JD, Husami A, Yang F, Zhang K, Filipovich AH, Fall N, Harley JB, Nirmala NR, Grom AA. Kaufman KM, et al. Among authors: zhang k. Arthritis Rheumatol. 2014 Dec;66(12):3486-95. doi: 10.1002/art.38793. Arthritis Rheumatol. 2014. PMID: 25047945 Free PMC article.
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