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28 results

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Page 1
Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.
Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, Lang-Muritano M, van Ravenswaaij-Arts CMA, Shinawi M, Andrews M, Attie-Bitach T, Maystadt I, Belnap N, Benoit V, Delplancq G, de Vries BBA, Grotto S, Lacombe D, Larson A, Mourmans J, Õunap K, Petrilli G, Pfundt R, Ramsey K, Blok LS, Tsatsaris V, Vitobello A, Faivre L, Wheeler PG, Wevers MR, Wojcik M, Zweier M, Gozani O, Rauch A. Zanoni P, et al. Among authors: wevers mr. Genet Med. 2021 Aug;23(8):1474-1483. doi: 10.1038/s41436-021-01158-1. Epub 2021 May 3. Genet Med. 2021. PMID: 33941880 Free PMC article.
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM Jr, Fai… See abstract for full author list ➔ Radio FC, et al. Among authors: wevers mr. Am J Hum Genet. 2021 Mar 4;108(3):502-516. doi: 10.1016/j.ajhg.2021.01.015. Epub 2021 Feb 16. Am J Hum Genet. 2021. PMID: 33596411 Free PMC article.
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
Goodman LD, Cope H, Nil Z, Ravenscroft TA, Charng WL, Lu S, Tien AC, Pfundt R, Koolen DA, Haaxma CA, Veenstra-Knol HE, Wassink-Ruiter JSK, Wevers MR, Jones M, Walsh LE, Klee VH, Theunis M, Legius E, Steel D, Barwick KES, Kurian MA, Mohammad SS, Dale RC, Terhal PA, van Binsbergen E, Kirmse B, Robinette B, Cogné B, Isidor B, Grebe TA, Kulch P, Hainline BE, Sapp K, Morava E, Klee EW, Macke EL, Trapane P, Spencer C, Si Y, Begtrup A, Moulton MJ, Dutta D, Kanca O; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Bellen HJ, Tan QK. Goodman LD, et al. Among authors: wevers mr. Am J Hum Genet. 2021 Sep 2;108(9):1669-1691. doi: 10.1016/j.ajhg.2021.06.019. Epub 2021 Jul 26. Am J Hum Genet. 2021. PMID: 34314705 Free PMC article.
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: wevers mr. Genet Med. 2024 May;26(5):101101. doi: 10.1016/j.gim.2024.101101. Epub 2024 Feb 13. Genet Med. 2024. PMID: 38362852 Free article.
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.
Hakkaart C, Pearson JF, Marquart L, Dennis J, Wiggins GAR, Barnes DR, Robinson BA, Mace PD, Aittomäki K, Andrulis IL, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Belhadj S, Berger L, Blok MJ, Boonen SE, Borde J, Bradbury AR, Brunet J, Buys SS, Caligo MA, Campbell I, Chung WK, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame MA, Cook J, Cosgrove C, Couch FJ, Daly MB, Dandiker S, Davidson R, de la Hoya M, de Putter R, Delnatte C, Dhawan M, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Easton DF, Ehrencrona H, Engel C, Evans DG, Faust U, Feliubadaló L, Fostira F, Friedman E, Frone M, Frost D, Garber J, Gayther SA, Gehrig A, Gesta P, Godwin AK, Goldgar DE, Greene MH, Hahnen E, Hake CR, Hamann U, Hansen TVO, Hauke J, Hentschel J, Herold N, Honisch E, Hulick PJ, Imyanitov EN; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators; Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kemp Z, Kirk J, Konstantopoulou I, Koudijs M, Kwong A, Laitman Y, Lalloo F, Lasset C, Lautrup C, Lazaro C, Legrand C, Leslie G, Lesueur F, Mai PL, Manoukian S, Mari V, Martens JWM, McGuffog L, Mebirouk N, Meindl A,… See abstract for full author list ➔ Hakkaart C, et al. Among authors: wevers mr. Commun Biol. 2022 Oct 6;5(1):1061. doi: 10.1038/s42003-022-03978-6. Commun Biol. 2022. PMID: 36203093 Free PMC article.
Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
Yang X, Mooij TM, Leslie G, Ficorella L, Andrieu N, Kast K, Singer CF, Jakubowska A, van Gils CH, Tan YY, Engel C, Adank MA, van Asperen CJ, Ausems MGEM, Berthet P; EMBRACE collaborators; Collee MJ, Cook JA, Eason J, Spaendonck-Zwarts KYV, Evans DG, Gómez García EB, Hanson H, Izatt L, Kemp Z, Lalloo F, Lasset C, Lesueur F, Musgrave H, Nambot S, Noguès C, Oosterwijk JC, Stoppa-Lyonnet D, Tischkowitz M, Tripathi V, Wevers MR, Zhao E, van Leeuwen FE, Schmidt MK, Easton DF, Rookus MA, Antoniou AC. Yang X, et al. Among authors: wevers mr. J Med Genet. 2024 Jul 19;61(8):803-809. doi: 10.1136/jmg-2024-109943. J Med Genet. 2024. PMID: 38834293 Free PMC article.
Long-term outcome of high-grade serous carcinoma established in risk-reducing salpingo-oophorectomy specimens in asymptomatic BRCA1/2 germline pathogenic variant carriers.
Stroot IAS, Bart J, Hollema H, Jalving M, Wagner MM, Yigit R, van Doorn HC, de Hullu JA, Gaarenstroom KN, van Beurden M, van Lonkhuijzen LRCW, Slangen BFM, Zweemer RP, Gómez García EB, Ausems MGEM, Boere IA, van Hest LP, Duijkers FAM, van Asperen CJ, Schmidt MK, Wevers MR, Ruijs MWG, Devilee P, Collée JM, Hebon Investigators, de Bock GH, Mourits MJE. Stroot IAS, et al. Among authors: wevers mr. Gynecol Oncol. 2024 Aug;187:198-203. doi: 10.1016/j.ygyno.2024.05.024. Epub 2024 May 24. Gynecol Oncol. 2024. PMID: 38795508 Free article.
Cohort profile: a nationwide study in Dutch CHEK2 c.1100delC families using the infrastructure of the HEreditary Breast and Ovarian cancer study Netherlands - Hebon-CHEK2.
Schreurs MAC, Adank MA, Hollestelle A, de Groot R, Stommel-Jenner DJ, Van Asperen CJ, Ausems MGEM, Berger LPV, Blok MJ, van Engelen K, Hogervorst FBL, Geurts-Giele W, Gille JJP, Wevers MR, Schmidt MK, Hooning MJ. Schreurs MAC, et al. Among authors: wevers mr. BMJ Open. 2024 Oct 9;14(10):e086688. doi: 10.1136/bmjopen-2024-086688. BMJ Open. 2024. PMID: 39384226 Free PMC article.
Sexual functioning more than 15 years after premenopausal risk-reducing salpingo-oophorectomy.
Terra L, Beekman MJ, Engelhardt EG, Heemskerk-Gerritsen BAM, van Beurden M, Roeters van Lennep JE, van Doorn HC, de Hullu JA, Van Dorst EBL, Mom CH, Slangen BFM, Gaarenstroom KN, van der Kolk LE, Collée JM, Wevers MR, Ausems MGEM, Van Engelen K, van de Beek I, Berger LPV, van Asperen CJ, Gomez Garcia EB, Maas AHEM, Hooning MJ, Aaronson NK, Mourits MJE, van Leeuwen FE. Terra L, et al. Among authors: wevers mr. Am J Obstet Gynecol. 2023 Apr;228(4):440.e1-440.e20. doi: 10.1016/j.ajog.2022.11.1289. Epub 2022 Nov 17. Am J Obstet Gynecol. 2023. PMID: 36403862 Free article.
Coronary Artery Calcium Scores After Prophylactic Premenopausal Bilateral Salpingo-Oophorectomy.
Beekman MJ, Terra L, Heemskerk-Gerritsen BAM, van der Aalst CM, Roeters van Lennep JE, van Beurden M, van Doorn HC, de Hullu JA, van Dorst EBL, Mom CH, Mourits MJE, Slangen BFM, Bartels-Rutten A, Budde RPJ, Snoeren MM, Leiner T, de Jong PA, Vliegenthart R, Planken RN, Mihl C, Vonder M, Oudkerk M, Gaarenstroom KN, Gratama JWC, van Engelen K, van der Kolk LE, Collée JM, Wevers MR, Ausems MGEM, Berger LPV, Gomez Garcia EB, van Asperen CJ, Hooning MJ, de Koning HJ, Maas AHEM, van Leeuwen FE. Beekman MJ, et al. Among authors: wevers mr. JACC CardioOncol. 2024 Nov 19;6(6):922-931. doi: 10.1016/j.jaccao.2024.09.011. eCollection 2024 Dec. JACC CardioOncol. 2024. PMID: 39801648 Free PMC article.
28 results