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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: branko 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.
Functional characterization of rare NRXN1 variants identified in autism spectrum disorders and schizophrenia.
Ishizuka K, Yoshida T, Kawabata T, Imai A, Mori H, Kimura H, Inada T, Okahisa Y, Egawa J, Usami M, Kushima I, Morikawa M, Okada T, Ikeda M, Branko A, Mori D, Someya T, Iwata N, Ozaki N. Ishizuka K, et al. Among authors: branko a. J Neurodev Disord. 2020 Sep 17;12(1):25. doi: 10.1186/s11689-020-09325-2. J Neurodev Disord. 2020. PMID: 32942984 Free PMC article.
A novel rare variant R292H in RTN4R affects growth cone formation and possibly contributes to schizophrenia susceptibility.
Kimura H, Fujita Y, Kawabata T, Ishizuka K, Wang C, Iwayama Y, Okahisa Y, Kushima I, Morikawa M, Uno Y, Okada T, Ikeda M, Inada T, Branko A, Mori D, Yoshikawa T, Iwata N, Nakamura H, Yamashita T, Ozaki N. Kimura H, et al. Among authors: branko a. Transl Psychiatry. 2017 Aug 22;7(8):e1214. doi: 10.1038/tp.2017.170. Transl Psychiatry. 2017. PMID: 28892071 Free PMC article.
Association of SOX10 with schizophrenia in the Japanese population.
Maeno N, Takahashi N, Saito S, Ji X, Ishihara R, Aoyama N, Branko A, Miura H, Ikeda M, Suzuki T, Kitajima T, Yamanouchi Y, Kinoshita Y, Iwata N, Inada T, Ozaki N. Maeno N, et al. Among authors: branko a. Psychiatr Genet. 2007 Aug;17(4):227-31. doi: 10.1097/YPG.0b013e3280ae6cd8. Psychiatr Genet. 2007. PMID: 17621166