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

Year Number of Results
2000 4
2001 4
2002 3
2003 3
2004 3
2005 4
2006 3
2007 4
2008 3
2009 2
2010 3
2011 3
2012 8
2013 5
2014 2
2015 5
2016 2
2017 3
2018 3
2019 2
2020 3
2021 2
2022 3
2023 6
2024 1

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76 results

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Page 1
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: dufke a. 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.
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.
Hu H, Haas SA, Chelly J, Van Esch H, Raynaud M, de Brouwer AP, Weinert S, Froyen G, Frints SG, Laumonnier F, Zemojtel T, Love MI, Richard H, Emde AK, Bienek M, Jensen C, Hambrock M, Fischer U, Langnick C, Feldkamp M, Wissink-Lindhout W, Lebrun N, Castelnau L, Rucci J, Montjean R, Dorseuil O, Billuart P, Stuhlmann T, Shaw M, Corbett MA, Gardner A, Willis-Owen S, Tan C, Friend KL, Belet S, van Roozendaal KE, Jimenez-Pocquet M, Moizard MP, Ronce N, Sun R, O'Keeffe S, Chenna R, van Bömmel A, Göke J, Hackett A, Field M, Christie L, Boyle J, Haan E, Nelson J, Turner G, Baynam G, Gillessen-Kaesbach G, Müller U, Steinberger D, Budny B, Badura-Stronka M, Latos-Bieleńska A, Ousager LB, Wieacker P, Rodríguez Criado G, Bondeson ML, Annerén G, Dufke A, Cohen M, Van Maldergem L, Vincent-Delorme C, Echenne B, Simon-Bouy B, Kleefstra T, Willemsen M, Fryns JP, Devriendt K, Ullmann R, Vingron M, Wrogemann K, Wienker TF, Tzschach A, van Bokhoven H, Gecz J, Jentsch TJ, Chen W, Ropers HH, Kalscheuer VM. Hu H, et al. Among authors: dufke a. Mol Psychiatry. 2016 Jan;21(1):133-48. doi: 10.1038/mp.2014.193. Epub 2015 Feb 3. Mol Psychiatry. 2016. PMID: 25644381 Free PMC article.
Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series.
Brar BK, Thompson MG, Vora NL, Gilmore K, Blakemore K, Miller KA, Giordano J, Dufke A, Wong B, Stover S, Lianoglou B, Van den Veyver I, Dempsey E, Rosner M, Chong K, Chitayat D, Sparks TN, Norton ME, Wapner R, Baranano K, Jelin AC; Fetal Sequencing Consortium. Brar BK, et al. Among authors: dufke a. Prenat Diagn. 2022 Dec;42(13):1686-1693. doi: 10.1002/pd.6269. Epub 2022 Nov 28. Prenat Diagn. 2022. PMID: 36403095 Free PMC article. Review.
Prenatal testing for imprinting disorders: A laboratory perspective.
Beygo J, Russo S, Tannorella P, Santen GWE, Dufke A, Schlaich E, Eggermann T. Beygo J, et al. Among authors: dufke a. Prenat Diagn. 2023 Jul;43(8):973-982. doi: 10.1002/pd.6398. Epub 2023 Jul 4. Prenat Diagn. 2023. PMID: 37340544 Review.
Genomes in clinical care.
Riess O, Sturm M, Menden B, Liebmann A, Demidov G, Witt D, Casadei N, Admard J, Schütz L, Ossowski S, Taylor S, Schaffer S, Schroeder C, Dufke A, Haack T. Riess O, et al. Among authors: dufke a. NPJ Genom Med. 2024 Mar 14;9(1):20. doi: 10.1038/s41525-024-00402-2. NPJ Genom Med. 2024. PMID: 38485733 Free PMC article. Review.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Lischka A, Eggermann K, Record CJ, Dohrn MF, Laššuthová P, Kraft F, Begemann M, Dey D, Eggermann T, Beijer D, Šoukalová J, Laura M, Rossor AM, Mazanec R, Van Lent J, Tomaselli PJ, Ungelenk M, Debus KY, Feely SME, Gläser D, Jagadeesh S, Martin M, Govindaraj GM, Singhi P, Baineni R, Biswal N, Ibarra-Ramírez M, Bonduelle M, Gess B, Romero Sánchez J, Suthar R, Udani V, Nalini A, Unnikrishnan G, Marques W Junior, Mercier S, Procaccio V, Bris C, Suresh B, Reddy V, Skorupinska M, Bonello-Palot N, Mochel F, Dahl G, Sasidharan K, Devassikutty FM, Nampoothiri S, Rodovalho Doriqui MJ, Müller-Felber W, Vill K, Haack TB, Dufke A, Abele M, Stucka R, Siddiqi S, Ullah N, Spranger S, Chiabrando D, Bolgül BS, Parman Y, Seeman P, Lampert A, Schulz JB, Wood JN, Cox JJ, Auer-Grumbach M, Timmerman V, de Winter J, Themistocleous AC, Shy M, Bennett DL, Baets J, Hübner CA, Leipold E, Züchner S, Elbracht M, Çakar A, Senderek J, Hornemann T, Woods CG, Reilly MM, Kurth I. Lischka A, et al. Among authors: dufke a. Brain. 2023 Dec 1;146(12):4880-4890. doi: 10.1093/brain/awad328. Brain. 2023. PMID: 37769650 Free PMC article.
Renal cystic disease and associated ciliopathies.
Kagan KO, Dufke A, Gembruch U. Kagan KO, et al. Among authors: dufke a. Curr Opin Obstet Gynecol. 2017 Apr;29(2):85-94. doi: 10.1097/GCO.0000000000000348. Curr Opin Obstet Gynecol. 2017. PMID: 28151755 Review.
Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature.
Habhab W, Mau-Holzmann U, Singer S, Rieß A, Kagan KO, Gerbig I, Schäferhoff K, Dufke A, Kehrer M. Habhab W, et al. Among authors: dufke a. Am J Med Genet A. 2020 Nov;182(11):2680-2684. doi: 10.1002/ajmg.a.61804. Epub 2020 Aug 16. Am J Med Genet A. 2020. PMID: 32803851 Review.
Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients.
Schroeder C, Faust U, Krauße L, Liebmann A, Abele M, Demidov G, Schütz L, Kelemen O, Pohle A, Gauß S, Sturm M, Roggia C, Streiter M, Buchert R, Armenau-Ebinger S, Nann D, Beschorner R, Handgretinger R, Ebinger M, Lang P, Holzer U, Skokowa J, Ossowski S, Haack TB, Mau-Holzmann UA, Dufke A, Riess O, Brecht IB. Schroeder C, et al. Among authors: dufke a. Eur J Hum Genet. 2023 Oct;31(10):1139-1146. doi: 10.1038/s41431-023-01423-8. Epub 2023 Jul 28. Eur J Hum Genet. 2023. PMID: 37507557 Free PMC article.
76 results