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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 2
2004 5
2005 3
2006 6
2007 7
2008 15
2009 12
2010 4
2011 4
2012 3
2013 13
2014 5
2015 9
2016 5
2017 8
2018 5
2019 12
2020 16
2021 12
2022 14
2023 10
2024 3

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147 results

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Page 1
A novel ABCB11 variant in compound heterozygosity: BRIC2 or PFIC2?
Biolato M, Terranova R, Viceconti N, Marrone G, Miele L, Giustiniani MC, Francalanci P, Gazzellone A, Bauleo A, Falcone E, Genuardi M, Grieco A. Biolato M, et al. Among authors: genuardi m. Gastroenterol Rep (Oxf). 2024 Apr 25;12:goae022. doi: 10.1093/gastro/goae022. eCollection 2024. Gastroenterol Rep (Oxf). 2024. PMID: 38665279 Free PMC article. No abstract available.
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2.
Hinić S, Cybulski C, Van der Post RS, Vos JR, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams WAG, Kets CM, Haadsma M, Spruijt L, Wevers MR, Evans DG, Wimmer K, Schnaiter S, Volk AE, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong MM, Vaz F, Mensenkamp AR, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer RM. Hinić S, et al. Among authors: genuardi m. Genet Med. 2024 Feb 13;26(5):101101. doi: 10.1016/j.gim.2024.101101. Online ahead of print. Genet Med. 2024. PMID: 38362852 Free article.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Spier I, Yin X, Richardson M, Pineda M, Laner A, Ritter D, Boyle J, Mur P, Hansen TVO, Shi X, Mahmood K, Plazzer JP, Ognedal E, Nordling M, Farrington SM, Yamamoto G, Baert-Desurmont S, Martins A, Borras E, Tops C, Webb E, Beshay V, Genuardi M, Pesaran T, Capellá G, Tavtigian SV, Latchford A, Frayling IM, Plon SE, Greenblatt M, Macrae FA, Aretz S; InSiGHT-ClinGen Hereditary Colon Cancer/Polyposis Variant Curation Expert Panel. Spier I, et al. Among authors: genuardi m. Genet Med. 2024 Feb;26(2):100992. doi: 10.1016/j.gim.2023.100992. Epub 2023 Oct 4. Genet Med. 2024. PMID: 37800450 Free article.
Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
Bruinsma FJ, Dowty JG, Win AK, Goddard LC, Agrawal P, Attina' D, Bissada N, De Luise M, Eisen DB, Furuya M, Gasparre G, Genuardi M, Gerdes AM, Hansen TVO, Houweling AC, Johannesma PC, Lencastre A, Lim D, Lindor NM, Luzzi V, Lynch M, Maffé A, Menko FH, Michels G, Pulido JS, Ryu JH, Sattler EC, Steinlein OK, Tomassetti S, Tucker K, Turchetti D, van de Beek I, van Riel L, van Steensel M, Zenone T, Zompatori M, Walsh J, Bondavalli D, Maher ER, Winship IM; Genetic Susceptibility Working Group I-CONFIRM. Bruinsma FJ, et al. Among authors: genuardi m. J Med Genet. 2023 Apr;60(4):317-326. doi: 10.1136/jmg-2022-109104. Epub 2023 Feb 27. J Med Genet. 2023. PMID: 36849229 Review.
Correction to: Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. Forzano F, et al. Among authors: genuardi m. Eur J Hum Genet. 2023 Mar;31(3):368. doi: 10.1038/s41431-022-01263-y. Eur J Hum Genet. 2023. PMID: 36536147 Free PMC article. No abstract available.
Reply to Letter by Tellier et al., 'Scientific refutation of ESHG statement on embryo selection'.
Forzano F, Antonova O, Clarke A, de Wert G, Hentze S, Jamshidi Y, Moreau Y, Perola M, Prokopenko I, Read A, Reymond A, Stefansdottir V, van El C, Genuardi M; Executive Committee of the European Society of Human Genetics; Public and Professional Policy Committee of the European Society of Human Genetics. Forzano F, et al. Among authors: genuardi m. Eur J Hum Genet. 2023 Mar;31(3):279-281. doi: 10.1038/s41431-022-01241-4. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450798 Free PMC article. No abstract available.
147 results