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Year Number of Results
1977 3
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1981 5
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1986 1
1987 1
1991 1
1993 1
1995 1
1997 2
1999 1
2003 2
2004 2
2007 2
2011 2
2012 2
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2017 4
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2019 6
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82 results

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Page 1
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD co… See abstract for full author list ➔ Laurie S, et al. Among authors: william d. Nat Med. 2025 Feb;31(2):478-489. doi: 10.1038/s41591-024-03420-w. Epub 2025 Jan 17. Nat Med. 2025. PMID: 39825153 Free PMC article.
Comprehensive cancer predisposition testing within the prospective MASTER trial identifies hereditary cancer patients and supports treatment decisions for rare cancers.
Jahn A, Rump A, Widmann TJ, Heining C, Horak P, Hutter B, Paramasivam N, Uhrig S, Gieldon L, Drukewitz S, Kübler A, Bermudez M, Hackmann K, Porrmann J, Wagner J, Arlt M, Franke M, Fischer J, Kowalzyk Z, William D, Weth V, Oster S, Fröhlich M, Hüllein J, Valle González C, Kreutzfeldt S, Mock A, Heilig CE, Lipka DB, Möhrmann L, Hanf D, Oleś M, Teleanu V, Allgäuer M, Ruhnke L, Kutz O, Knurr A, Laßmann A, Endris V, Neumann O, Penzel R, Beck K, Richter D, Winter U, Wolf S, Pfütze K, Geörg C, Meißburger B, Buchhalter I, Augustin M, Aulitzky WE, Hohenberger P, Kroiss M, Schirmacher P, Schlenk RF, Keilholz U, Klauschen F, Folprecht G, Bauer S, Siveke JT, Brandts CH, Kindler T, Boerries M, Illert AL, von Bubnoff N, Jost PJ, Metzeler KH, Bitzer M, Schulze-Osthoff K, von Kalle C, Brors B, Stenzinger A, Weichert W, Hübschmann D, Fröhling S, Glimm H, Schröck E, Klink B. Jahn A, et al. Among authors: william d. Ann Oncol. 2022 Nov;33(11):1186-1199. doi: 10.1016/j.annonc.2022.07.008. Epub 2022 Aug 18. Ann Oncol. 2022. PMID: 35988656 Free article.
Benchmarking whole exome sequencing in the German network for personalized medicine.
Menzel M, Martis-Thiele M, Goldschmid H, Ott A, Romanovsky E, Siemanowski-Hrach J, Seillier L, Brüchle NO, Maurer A, Lehmann KV, Begemann M, Elbracht M, Meyer R, Dintner S, Claus R, Meier-Kolthoff JP, Blanc E, Möbs M, Joosten M, Benary M, Basitta P, Hölscher F, Tischler V, Groß T, Kutz O, Prause R, William D, Horny K, Goering W, Sivalingam S, Borkhardt A, Blank C, Junk SV, Yasin L, Moskalev EA, Carta MG, Ferrazzi F, Tögel L, Wolter S, Adam E, Matysiak U, Rosenthal T, Dönitz J, Lehmann U, Schmidt G, Bartels S, Hofmann W, Hirsch S, Dikow N, Göbel K, Banan R, Hamelmann S, Fink A, Ball M, Neumann O, Rehker J, Kloth M, Murtagh J, Hartmann N, Jurmeister P, Mock A, Kumbrink J, Jung A, Mayr EM, Jacob A, Trautmann M, Kirmse S, Falkenberg K, Ruckert C, Hirsch D, Immel A, Dietmaier W, Haack T, Marienfeld R, Fürstberger A, Niewöhner J, Gerstenmaier U, Eberhardt T, Greif PA, Appenzeller S, Maurus K, Doll J, Jelting Y, Jonigk D, Märkl B, Beule D, Horst D, Wulf AL, Aust D, Werner M, Reuter-Jessen K, Ströbel P, Auber B, Sahm F, Merkelbach-Bruse S, Siebolts U, Roth W, Lassmann S, Klauschen F, Gaisa NT, Weichert W, Evert M, Armeanu-Ebinger S, Ossowski S, Schroeder C, Schaaf CP, Malek N, Schi… See abstract for full author list ➔ Menzel M, et al. Among authors: william d. Eur J Cancer. 2024 Nov;211:114306. doi: 10.1016/j.ejca.2024.114306. Epub 2024 Sep 8. Eur J Cancer. 2024. PMID: 39293347 Free article.
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S, Steyaert W, de Boer E, Polavarapu K, Schuermans N, Sommer AK, Demidov G, Ellwanger K, Paramonov I, Thomas C, Aretz S, Baets J, Benetti E, Bullich G, Chinnery PF, Clayton-Smith J, Cohen E, Danis D, de Sainte Agathe JM, Denommé-Pichon AS, Diaz-Manera J, Efthymiou S, Faivre L, Fernandez-Callejo M, Freeberg M, Garcia-Pelaez J, Guillot-Noel L, Haack TB, Hanna M, Hengel H, Horvath R, Houlden H, Jackson A, Johansson L, Johari M, Kamsteeg EJ, Kellner M, Kleefstra T, Lacombe D, Lochmüller H, López-Martín E, Macaya A, Marcé-Grau A, Maver A, Morsy H, Muntoni F, Musacchia F, Nelson I, Nigro V, Olimpio C, Oliveira C, Paulasová Schwabová J, Pauly MG, Peterlin B, Peters S, Pfundt R, Piluso G, Piscia D, Posada M, Reich S, Renieri A, Ryba L, Šablauskas K, Savarese M, Schöls L, Schütz L, Steinke-Lange V, Stevanin G, Straub V, Sturm M, Swertz MA, Tartaglia M, Te Paske IBAW, Thompson R, Torella A, Trainor C, Udd B, Van de Vondel L, van de Warrenburg B, van Reeuwijk J, Vandrovcova J, Vitobello A, Vos J, Vyhnálková E, Wijngaard R, Wilke C, William D, Xu J, Yaldiz B, Zalatnai L, Zurek B; Solve-RD DITF-GENTURIS; Solve-RD DITF-ITHACA; Solve-RD DITF-EURO-NMD; Solve-RD DITF-RND; Solve-RD co… See abstract for full author list ➔ Laurie S, et al. Among authors: william d. Nat Med. 2025 Aug;31(8):2819-2820. doi: 10.1038/s41591-025-03754-z. Nat Med. 2025. PMID: 40537530 Free PMC article. No abstract available.
Patient-Derived Organoids of Cholangiocarcinoma.
Maier CF, Zhu L, Nanduri LK, Kühn D, Kochall S, Thepkaysone ML, William D, Grützmann K, Klink B, Betge J, Weitz J, Rahbari NN, Reißfelder C, Schölch S. Maier CF, et al. Among authors: william d. Int J Mol Sci. 2021 Aug 12;22(16):8675. doi: 10.3390/ijms22168675. Int J Mol Sci. 2021. PMID: 34445380 Free PMC article.
Enteric diseases.
William DC. William DC. Cutis. 1981 Mar;27(3):278-81, 283-5. Cutis. 1981. PMID: 6260431
Personalized drug testing in human pheochromocytoma/paraganglioma primary cultures.
Wang K, Schütze I, Gulde S, Bechmann N, Richter S, Helm J, Lauseker M, Maurer J, Reul A, Spoettl G, Klink B, William D, Knösel T, Friemel J, Bihl M, Weber A, Fankhauser M, Schober L, Vetter D, Broglie Däppen M, Ziegler CG, Ullrich M, Pietzsch J, Bornstein SR, Lottspeich C, Kroiss M, Fassnacht M, Wenter VUJ, Ladurner R, Hantel C, Reincke M, Eisenhofer G, Grossman AB, Pacak K, Beuschlein F, Auernhammer CJ, Pellegata NS, Nölting S. Wang K, et al. Among authors: william d. Endocr Relat Cancer. 2022 May 9;29(6):285-306. doi: 10.1530/ERC-21-0355. Endocr Relat Cancer. 2022. PMID: 35324454
The novel atherosclerosis locus at 10q11 regulates plasma CXCL12 levels.
Mehta NN, Li M, William D, Khera AV, DerOhannessian S, Qu L, Ferguson JF, McLaughlin C, Shaikh LH, Shah R, Patel PN, Bradfield JP, He J, Stylianou IM, Hakonarson H, Rader DJ, Reilly MP. Mehta NN, et al. Among authors: william d. Eur Heart J. 2011 Apr;32(8):963-71. doi: 10.1093/eurheartj/ehr091. Epub 2011 Mar 17. Eur Heart J. 2011. PMID: 21415067 Free PMC article. Review.
82 results