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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: waltes r. 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.
Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.
Waltes R, Duketis E, Knapp M, Anney RJ, Huguet G, Schlitt S, Jarczok TA, Sachse M, Kämpfer LM, Kleinböck T, Poustka F, Bölte S, Schmötzer G, Voran A, Huy E, Meyer J, Bourgeron T, Klauck SM, Freitag CM, Chiocchetti AG. Waltes R, et al. Hum Genet. 2014 Jun;133(6):781-92. doi: 10.1007/s00439-013-1416-y. Epub 2014 Jan 19. Hum Genet. 2014. PMID: 24442360
Transcriptomic signatures of neuronal differentiation and their association with risk genes for autism spectrum and related neuropsychiatric disorders.
Chiocchetti AG, Haslinger D, Stein JL, de la Torre-Ubieta L, Cocchi E, Rothämel T, Lindlar S, Waltes R, Fulda S, Geschwind DH, Freitag CM. Chiocchetti AG, et al. Among authors: waltes r. Transl Psychiatry. 2016 Aug 2;6(8):e864. doi: 10.1038/tp.2016.119. Transl Psychiatry. 2016. PMID: 27483382 Free PMC article.
Quantitative genome-wide association study of six phenotypic subdomains identifies novel genome-wide significant variants in autism spectrum disorder.
Yousaf A, Waltes R, Haslinger D, Klauck SM, Duketis E, Sachse M, Voran A, Biscaldi M, Schulte-Rüther M, Cichon S, Nöthen M, Ackermann J, Koch I, Freitag CM, Chiocchetti AG. Yousaf A, et al. Among authors: waltes r. Transl Psychiatry. 2020 Jul 5;10(1):215. doi: 10.1038/s41398-020-00906-2. Transl Psychiatry. 2020. PMID: 32624584 Free PMC article.
Genetics of autistic disorders: review and clinical implications.
Freitag CM, Staal W, Klauck SM, Duketis E, Waltes R. Freitag CM, et al. Among authors: waltes r. Eur Child Adolesc Psychiatry. 2010 Mar;19(3):169-78. doi: 10.1007/s00787-009-0076-x. Epub 2009 Nov 26. Eur Child Adolesc Psychiatry. 2010. PMID: 19941018 Free PMC article. Review.
24 results