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Page 1
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE. van der Sluijs PJ, et al. Among authors: hopman smj. Genet Med Open. 2024 Jul 23;2:101873. doi: 10.1016/j.gimo.2024.101873. eCollection 2024. Genet Med Open. 2024. PMID: 39669611 Free PMC article.
Comparison of clinical selection-based genetic testing with phenotype-agnostic extensive germline sequencing to diagnose genetic predisposition in children with cancer: a prospective diagnostic study.
Bakhuizen JJ, van Dijk F, Koudijs MJ, Bladergroen RS, Bon SBB, Hopman SMJ, Kester LA, Kranendonk MEG, Loeffen JLC, Smetsers SE, Sonneveld E, Tachdjian M, de Vos-Kerkhof E, Goudie C, Merks JHM, Kuiper RP, Jongmans MCJ. Bakhuizen JJ, et al. Among authors: hopman smj. Lancet Child Adolesc Health. 2024 Oct;8(10):751-761. doi: 10.1016/S2352-4642(24)00144-5. Epub 2024 Aug 16. Lancet Child Adolesc Health. 2024. PMID: 39159644
Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Guerrini-Rousseau L, Masliah-Planchon J, Filser M, Tauziède-Espariat A, Entz-Werle N, Maugard CM, Hopman SMJ, Torrejon J, Gauthier-Villars M, Simaga F, Blauwblomme T, Beccaria K, Rouleau E, Dimaria M, Grill J, Abbou S, Claret B, Brugières L, Doz F, Bouchoucha Y, Faure-Conter C, Bonadona V, Mansuy L, de Carli E, Ingster O, Legrand C, Pagnier A, Berthet P, Bodet D, Julia S, Bertozzi AI, Wilems M, Maurage CA, Delattre O, Ayrault O, Dufour C, Bourdeaut F. Guerrini-Rousseau L, et al. Among authors: hopman smj. Neurooncol Adv. 2024 May 15;6(1):vdae075. doi: 10.1093/noajnl/vdae075. eCollection 2024 Jan-Dec. Neurooncol Adv. 2024. PMID: 38962751 Free PMC article.
No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation.
Bakhuizen JJ, Postema FAM, van Rijn RR, van Schuppen J, Duijkers FAM, van Noesel CJM, Hennekam RC, Jongmans MCJ, Savci-Heijink CD, Smetsers SE, Terheggen-Lagro SWJ, Hopman SMJ, Oomen MWN, Merks JHM. Bakhuizen JJ, et al. Among authors: hopman smj. J Pediatr Surg. 2024 Mar;59(3):459-463. doi: 10.1016/j.jpedsurg.2023.10.031. Epub 2023 Oct 21. J Pediatr Surg. 2024. PMID: 37989646 Free article.
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots D, Jakub TE, Keung C, Jackson A, Banka S, Pfundt R, de Vries BBA, van Jaarsveld RH, Hopman SMJ, van Binsbergen E, Valenzuela I, Hempel M, Bierhals T, Kortüm F, Lecoquierre F, Goldenberg A, Hertz JM, Andersen CB, Kibæk M, Prijoles EJ, Stevenson RE, Everman DB, Patterson WG, Meng L, Gijavanekar C, De Dios K, Lakhani S, Levy T, Wagner M, Wieczorek D, Benke PJ, Lopez Garcia MS, Perrier R, Sousa SB, Almeida PM, Simões MJ, Isidor B, Deb W, Schmanski AA, Abdul-Rahman O, Philippe C, Bruel AL, Faivre L, Vitobello A, Thauvin C, Smits JJ, Garavelli L, Caraffi SG, Peluso F, Davis-Keppen L, Platt D, Royer E, Leeuwen L, Sinnema M, Stegmann APA, Stumpel CTRM, Tiller GE, Bosch DGM, Potgieter ST, Joss S, Splitt M, Holden S, Prapa M, Foulds N, Douzgou S, Puura K, Waltes R, Chiocchetti AG, Freitag CM, Satterstrom FK, De Rubeis S, Buxbaum J, Gelb BD, Branko A, Kushima I, Howe J, Scherer SW, Arado A, Baldo C, Patat O, Bénédicte D, Lopergolo D, Santorelli FM, Haack TB, Dufke A, Bertrand M, Falb RJ, Rieß A, Krieg P, Spranger S, Bedeschi MF, Iascone M, Josephi-Taylor S, Roscioli T, Buckley MF, Liebelt J, Dagli AI, Aten E, Hurst ACE, Hicks A, Suri M, Aliu E, Naik S, Sidlow R, Coursimault J, Ni… See abstract for full author list ➔ Rots D, et al. Among authors: hopman smj. Am J Hum Genet. 2023 Jun 1;110(6):963-978. doi: 10.1016/j.ajhg.2023.04.008. Epub 2023 May 16. Am J Hum Genet. 2023. PMID: 37196654 Free PMC article.
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm.
Bakhuizen JJ, Hopman SMJ, Bosscha MI, Dommering CJ, van den Heuvel-Eibrink MM, Hol JA, Kester LA, Koudijs MJ, Langenberg KPS, Loeffen JLC, van der Lugt J, Moll AC, van Noesel MM, Smetsers SE, de Vos-Kerkhof E, Merks JHM, Kuiper RP, Jongmans MCJ. Bakhuizen JJ, et al. Among authors: hopman smj. JAMA Netw Open. 2023 Feb 1;6(2):e2254157. doi: 10.1001/jamanetworkopen.2022.54157. JAMA Netw Open. 2023. PMID: 36735256 Free PMC article.
3D analysis of facial morphology in Dutch children with cancer.
Postema FAM, Matthews H, Hopman SMJ, Merks JHM, Suttie M, Hoskens H, Peeters H, Hennekam RC, Claes P, Hammond P. Postema FAM, et al. Among authors: hopman smj. Comput Methods Programs Biomed. 2021 Jun;205:106093. doi: 10.1016/j.cmpb.2021.106093. Epub 2021 Apr 9. Comput Methods Programs Biomed. 2021. PMID: 33882417 Free article.
Current recommendations for cancer surveillance in Gorlin syndrome: a report from the SIOPE host genome working group (SIOPE HGWG).
Guerrini-Rousseau L, Smith MJ, Kratz CP, Doergeloh B, Hirsch S, Hopman SMJ, Jorgensen M, Kuhlen M, Michaeli O, Milde T, Ridola V, Russo A, Salvador H, Waespe N, Claret B, Brugieres L, Evans DG. Guerrini-Rousseau L, et al. Among authors: hopman smj. Fam Cancer. 2021 Oct;20(4):317-325. doi: 10.1007/s10689-021-00247-z. Epub 2021 Apr 16. Fam Cancer. 2021. PMID: 33860896 Free PMC article.
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.
Postema FAM, Hopman SMJ, de Borgie CAJM, Aalfs CM, Anninga JK, Berger LPV, Bleeker FE, Dommering CJ, van Eijkelenburg NKA, Hammond P, van den Heuvel-Eibrink MM, Hol JA, Kors WA, Letteboer TGW, Loeffen JLCM, Meijer L, Olderode-Berends MJW, Wagner A, Hennekam RC, Merks JHM. Postema FAM, et al. Among authors: hopman smj. Fam Cancer. 2021 Oct;20(4):263-271. doi: 10.1007/s10689-021-00237-1. Epub 2021 Mar 9. Fam Cancer. 2021. PMID: 33686467 Free PMC article.
Multiple tumors due to mosaic genome-wide paternal uniparental disomy.
Postema FAM, Bliek J, van Noesel CJM, van Zutven LJCM, Oosterwijk JC, Hopman SMJ, Merks JHM, Hennekam RC. Postema FAM, et al. Among authors: hopman smj. Pediatr Blood Cancer. 2019 Jun;66(6):e27715. doi: 10.1002/pbc.27715. Epub 2019 Mar 18. Pediatr Blood Cancer. 2019. PMID: 30882989
23 results