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Page 1
Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.
Glinton KE, Hurst ACE, Bowling KM, Cristian I, Haynes D, Adstamongkonkul D, Schnappauf O, Beck DB, Brewer C, Parikh AS, Shinde DN, Donaldson A, Brautbar A, Koene S, van Haeringen A, Piton A, Capri Y, Furlan M, Gardella E, Møller RS, van de Beek I, Zuurbier L, Lakeman P, Bayat A, Martinez J, Signer R, Torring PM, Engelund MB, Gripp KW, Amlie-Wolf L, Henderson LB, Midro AT, Tarasów E, Stasiewicz-Jarocka B, Moskal-Jasinska D, Vos P, Boschann F, Stoltenburg C, Puk O, Mero IL, Lossius K, Mignot C, Keren B, Acosta Guio JC, Briceño I, Gomez A, Yang Y, Stankiewicz P. Glinton KE, et al. Among authors: van haeringen a, van de beek i. Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31. Am J Med Genet A. 2021. PMID: 33522091 Free PMC article.
Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing.
Fliedner A, Kirchner P, Wiesener A, van de Beek I, Waisfisz Q, van Haelst M, Scott DA, Lalani SR, Rosenfeld JA, Azamian MS, Xia F, Dutra-Clarke M, Martinez-Agosto JA, Lee H; UCLA Clinical Genomics Center; Noh GJ, Lippa N, Alkelai A, Aggarwal V, Agre KE, Gavrilova R, Mirzaa GM, Straussberg R, Cohen R, Horist B, Krishnamurthy V, McWalter K, Juusola J, Davis-Keppen L, Ohden L, van Slegtenhorst M, de Man SA, Ekici AB, Gregor A, van de Laar I, Zweier C. Fliedner A, et al. Among authors: de man sa, van de laar i, van haelst m, van slegtenhorst m, van de beek i. Am J Hum Genet. 2020 Sep 3;107(3):544-554. doi: 10.1016/j.ajhg.2020.06.019. Epub 2020 Jul 29. Am J Hum Genet. 2020. PMID: 32730804 Free PMC article.
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
Lakeman IMM, Rodríguez-Girondo MDM, Lee A, Celosse N, Braspenning ME, van Engelen K, van de Beek I, van der Hout AH, Gómez García EB, Mensenkamp AR, Ausems MGEM, Hooning MJ, Adank MA, Hollestelle A, Schmidt MK, van Asperen CJ, Devilee P. Lakeman IMM, et al. Among authors: van asperen cj, van der hout ah, van engelen k, van de beek i. J Med Genet. 2023 Apr;60(4):327-336. doi: 10.1136/jmg-2022-108502. Epub 2022 Sep 22. J Med Genet. 2023. PMID: 36137616 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: van de beek i. 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.
Correspondence on "Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population" by Savatt et al.
van Riel L, Jansen PR, Boerrigter BG, van Moorselaar RJA, van Haelst MM, Wolthuis RMF, van de Beek I, Houweling AC. van Riel L, et al. Among authors: van haelst mm, van moorselaar rja, van de beek i. Genet Med. 2023 Jan;25(1):158-160. doi: 10.1016/j.gim.2022.08.033. Epub 2022 Nov 16. Genet Med. 2023. PMID: 36383210 Free article. No abstract available.
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders.
Overwater E, Marsili L, Baars MJH, Baas AF, van de Beek I, Dulfer E, van Hagen JM, Hilhorst-Hofstee Y, Kempers M, Krapels IP, Menke LA, Verhagen JMA, Yeung KK, Zwijnenburg PJG, Groenink M, van Rijn P, Weiss MM, Voorhoeve E, van Tintelen JP, Houweling AC, Maugeri A. Overwater E, et al. Among authors: van rijn p, van hagen jm, van de beek i, van tintelen jp. Hum Mutat. 2018 Sep;39(9):1173-1192. doi: 10.1002/humu.23565. Epub 2018 Jul 12. Hum Mutat. 2018. PMID: 29907982 Free PMC article.
Long-Term Morbidity and Health After Early Menopause Due to Oophorectomy in Women at Increased Risk of Ovarian Cancer: Protocol for a Nationwide Cross-Sectional Study With Prospective Follow-Up (HARMOny Study).
Terra L, Hooning MJ, Heemskerk-Gerritsen BAM, van Beurden M, Roeters van Lennep JE, van Doorn HC, de Hullu JA, Mom C, van Dorst EBL, Mourits MJE, Slangen BFM, Gaarenstroom KN, Zillikens MC, Leiner T, van der Kolk L, Collee M, Wevers M, Ausems MGEM, van Engelen K, Berger LP, van Asperen CJ, Gomez-Garcia EB, van de Beek I, Rookus MA, Hauptmann M, Bleiker EM, Schagen SB, Aaronson NK, Maas AHEM, van Leeuwen FE. Terra L, et al. Among authors: van asperen cj, van dorst ebl, van der kolk l, van engelen k, van doorn hc, van leeuwen fe, de hullu ja, van beurden m, van de beek i. JMIR Res Protoc. 2021 Jan 22;10(1):e24414. doi: 10.2196/24414. JMIR Res Protoc. 2021. PMID: 33480862 Free PMC article.
Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study.
Schrijver LH, Antoniou AC, Olsson H, Mooij TM, Roos-Blom MJ, Azarang L, Adlard J, Ahmed M, Barrowdale D, Davidson R, Donaldson A, Eeles R, Evans DG, Frost D, Henderson A, Izatt L, Ong KR, Bonadona V, Coupier I, Faivre L, Fricker JP, Gesta P, van Engelen K, Jager A, Menko FH, Mourits MJE, Singer CF, Tan YY, Foretova L, Navratilova M, Schmutzler RK, Ellberg C, Gerdes AM, Caldes T, Simard J, Olah E, Jakubowska A, Rantala J, Osorio A, Hopper JL, Phillips KA, Milne RL, Beth Terry M, Noguès C, Engel C, Kast K, Goldgar DE, van Leeuwen FE, Easton DF, Andrieu N, Rookus MA; Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study. Schrijver LH, et al. Am J Obstet Gynecol. 2021 Jul;225(1):51.e1-51.e17. doi: 10.1016/j.ajog.2021.01.014. Epub 2021 Jan 22. Am J Obstet Gynecol. 2021. PMID: 33493488 Free PMC article.
Endometrial Cancer Risk in Women With Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study.
de Jonge MM, de Kroon CD, Jenner DJ, Oosting J, de Hullu JA, Mourits MJE, Gómez Garcia EB, Ausems MGEM, Margriet Collée J, van Engelen K, van de Beek I; Hebon Group; Smit VTHBM, Rookus MA, de Bock GH, van Leeuwen FE, Bosse T, Dekkers OM, van Asperen CJ. de Jonge MM, et al. Among authors: van asperen cj, de kroon cd, van engelen k, de bock gh, van leeuwen fe, de hullu ja, van de beek i. J Natl Cancer Inst. 2021 Sep 4;113(9):1203-1211. doi: 10.1093/jnci/djab036. J Natl Cancer Inst. 2021. PMID: 33710348 Free PMC article.
Effects of chemotherapy on contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers: A nationwide cohort study.
Akdeniz D, van Barele M, Heemskerk-Gerritsen BAM, Steyerberg EW, Hauptmann M; HEBON Investigators; van de Beek I, van Engelen K, Wevers MR, Gómez García EB, Ausems MGEM, Berger LPV, van Asperen CJ, Adank MA, Collée MJ, Stommel-Jenner DJ, Jager A, Schmidt MK, Hooning MJ. Akdeniz D, et al. Among authors: van asperen cj, van barele m, van engelen k, van de beek i. Breast. 2022 Feb;61:98-107. doi: 10.1016/j.breast.2021.12.007. Epub 2021 Dec 14. Breast. 2022. PMID: 34929424 Free PMC article.
34 results