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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: willis a. 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.
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Béroud C, Letovsky SI, Braastad CD, Caputo SM, Beaudoux O, Bignon YJ, Bressac-De Paillerets B, Bronner M, Buell CM, Collod-Béroud G, Coulet F, Derive N, Divincenzo C, Elzinga CD, Garrec C, Houdayer C, Karbassi I, Lizard S, Love A, Muller D, Nagan N, Nery CR, Rai G, Revillion F, Salgado D, Sévenet N, Sinilnikova O, Sobol H, Stoppa-Lyonnet D, Toulas C, Trautman E, Vaur D, Vilquin P, Weymouth KS, Willis A; Laboratory Corporation of America Variant Classification Group; Quest Diagnostics Variant Classification Group; UNICANCER Genetic Group BRCA Laboratory Network; Eisenberg M, Strom CM. Béroud C, et al. Among authors: willis a. Hum Mutat. 2016 Dec;37(12):1318-1328. doi: 10.1002/humu.23113. Epub 2016 Sep 28. Hum Mutat. 2016. PMID: 27633797 Free article.
Genetic and phenotypic characterization of Parkinson's disease at the clinic-wide level.
Tropea TF, Hartstone W, Amari N, Baum D, Rick J, Suh E, Zhang H, Paul RA, Han N, Zack R, Brody EM, Albuja I, James J, Spindler M, Deik A, Aamodt WW, Dahodwala N, Hamedani A, Lasker A, Hurtig H, Stern M, Weintraub D, Vaswani P, Willis AW, Siderowf A, Xie SX, Van Deerlin V, Chen-Plotkin AS. Tropea TF, et al. Among authors: willis aw. NPJ Parkinsons Dis. 2024 May 3;10(1):97. doi: 10.1038/s41531-024-00690-6. NPJ Parkinsons Dis. 2024. PMID: 38702337 Free PMC article.
Clinicopathological and pedigree investigation of a novel spinocerebellar neurological disease in juvenile Quarter Horses in North America.
Willis AT, Dahlgren AR, Woolard KD, Ghosh S, Donnelly CG, de la Concha-Bermejillo A, Pacheco A, Watson KD, Berryhill E, Aleman M, Wensley F, Humphreys S, Whitehead AE, Goldsmith D, Chesen B, Ragsdale J, Tompkins JE, Nash R, Plunkett AH, Qualls HJ, Rodriguez K, Hochanadel D, Miller AD, Finno CJ. Willis AT, et al. J Vet Intern Med. 2024 Apr 26. doi: 10.1111/jvim.17049. Online ahead of print. J Vet Intern Med. 2024. PMID: 38669583 Free article.
Exophytic lesion in the anterior maxilla.
McConville R, Willis AM. McConville R, et al. Among authors: willis am. Clin Case Rep. 2024 Mar 27;12(4):e8727. doi: 10.1002/ccr3.8727. eCollection 2024 Apr. Clin Case Rep. 2024. PMID: 38550738 Free PMC article.
1,372 results