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Page 1
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Martinez Ojeda M, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Ruhrman Shahar N, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KB… See abstract for full author list ➔ Koczkowska M, et al. Among authors: goldberg y. Hum Mutat. 2020 Jan;41(1):299-315. doi: 10.1002/humu.23929. Epub 2019 Oct 26. Hum Mutat. 2020. PMID: 31595648 Free PMC article.
Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy.
Suerink M, Ripperger T, Messiaen L, Menko FH, Bourdeaut F, Colas C, Jongmans M, Goldberg Y, Nielsen M, Muleris M, van Kouwen M, Slavc I, Kratz C, Vasen HF, Brugiѐres L, Legius E, Wimmer K. Suerink M, et al. Among authors: goldberg y. J Med Genet. 2019 Feb;56(2):53-62. doi: 10.1136/jmedgenet-2018-105664. Epub 2018 Nov 10. J Med Genet. 2019. PMID: 30415209 Review.
Paediatric systemic lupus erythematosus as a manifestation of constitutional mismatch repair deficiency.
Toledano H, Orenstein N, Sofrin E, Ruhrman-Shahar N, Amarilyo G, Basel-Salmon L, Shuldiner AR, Smirin-Yosef P, Aronson M, Al-Tarrah H, Bazak L, Gonzaga-Jauregui C, Tabori U, Wimmer K, Goldberg Y. Toledano H, et al. Among authors: goldberg y. J Med Genet. 2020 Jul;57(7):505-508. doi: 10.1136/jmedgenet-2019-106303. Epub 2019 Sep 9. J Med Genet. 2020. PMID: 31501241
When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.
Basel-Salmon L, Ruhrman-Shahar N, Orenstein N, Goldberg Y, Gonzaga-Jauregui C, Shuldiner AR, Sukenik-Halevy R, Maya I, Magal N, Hagari O, Azulay N, Lidzbarsky GA, Bazak L. Basel-Salmon L, et al. Among authors: goldberg y. Genet Med. 2021 Jan;23(1):215-221. doi: 10.1038/s41436-020-00938-5. Epub 2020 Aug 17. Genet Med. 2021. PMID: 32801363 Free article.
Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.
Goldberg Y, Laitman Y, Ben David M, Bazak L, Lidzbarsky G, Salmon LB, Shkedi-Rafid S, Barshack I, Avivi C, Darawshe M, Shomron N, Bruchim R, Vinkler C, Yannoukakos D, Fostira F, Bernstein-Molho R, Friedman E. Goldberg Y, et al. Hum Mutat. 2021 May;42(5):592-599. doi: 10.1002/humu.24189. Epub 2021 Mar 3. Hum Mutat. 2021. PMID: 33600035
Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.
Baris HN, Barnes-Kedar I, Toledano H, Halpern M, Hershkovitz D, Lossos A, Lerer I, Peretz T, Kariv R, Cohen S, Half EE, Magal N, Drasinover V, Wimmer K, Goldberg Y, Bercovich D, Levi Z. Baris HN, et al. Among authors: goldberg y. Pediatr Blood Cancer. 2016 Mar;63(3):418-27. doi: 10.1002/pbc.25818. Epub 2015 Nov 6. Pediatr Blood Cancer. 2016. PMID: 26544533
Recurrent TP53 missense mutation in cancer patients of Arab descent.
Zick A, Kadouri L, Cohen S, Frohlinger M, Hamburger T, Zvi N, Plaser M, Avital E, Breuier S, Elian F, Salah A, Goldberg Y, Peretz T. Zick A, et al. Among authors: goldberg y. Fam Cancer. 2017 Apr;16(2):295-301. doi: 10.1007/s10689-016-9951-z. Fam Cancer. 2017. PMID: 27866339
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome.
Suerink M, Rodríguez-Girondo M, van der Klift HM, Colas C, Brugieres L, Lavoine N, Jongmans M, Munar GC, Evans DG, Farrell MP, Genuardi M, Goldberg Y, Gomez-Garcia E, Heinimann K, Hoell JI, Aretz S, Jasperson KW, Kedar I, Modi MB, Nikolaev S, van Os TAM, Ripperger T, Rueda D, Senter L, Sjursen W, Sunde L, Therkildsen C, Tibiletti MG, Trainer AH, Vos YJ, Wagner A, Winship I, Wimmer K, Zimmermann SY, Vasen HF, van Asperen CJ, Houwing-Duistermaat JJ, Ten Broeke SW, Nielsen M. Suerink M, et al. Among authors: goldberg y. Genet Med. 2019 Dec;21(12):2706-2712. doi: 10.1038/s41436-019-0577-z. Epub 2019 Jun 17. Genet Med. 2019. PMID: 31204389 Free article.
346 results