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Page 1
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM; Autism Sequencing Consortium; Church GM, Scherer SW, Buxbaum JD, Walsh CA. Lim ET, et al. Among authors: chiocchetti ag. Nat Neurosci. 2017 Sep;20(9):1217-1224. doi: 10.1038/nn.4598. Epub 2017 Jul 17. Nat Neurosci. 2017. PMID: 28714951 Free PMC article.
The phenotypic and genotypic spectrum of epilepsy and intellectual disability in adults: Implications for genetic testing.
von Brauchitsch S, Haslinger D, Lindlar S, Thiele H, Bernsen N, Zahnert F, Reif PS, Balcik Y, Au PYB, Josephson CB, Altmüller J, Strzelczyk A, Knake S, Rosenow F, Chiocchetti A, Klein KM. von Brauchitsch S, et al. Epilepsia Open. 2023 Jun;8(2):497-508. doi: 10.1002/epi4.12719. Epub 2023 Mar 17. Epilepsia Open. 2023. PMID: 36896643 Free PMC article.
Interferon regulatory factor 4 plays a pivotal role in the development of aGVHD-associated colitis.
Frueh JT, Campe J, Sunaga-Franze DY, Verheyden NA, Ghimire S, Meedt E, Haslinger D, Harenkamp S, Staudenraus D, Sauer S, Kreft A, Schubert R, Lohoff M, Krueger A, Bonig H, Chiocchetti AG, Zeiser R, Holler E, Ullrich E. Frueh JT, et al. Among authors: chiocchetti ag. Oncoimmunology. 2023 Dec 27;13(1):2296712. doi: 10.1080/2162402X.2023.2296712. eCollection 2024. Oncoimmunology. 2023. PMID: 38170159 Free PMC article.
Admission rates and clinical profiles of children and youth with eating disorders treated as inpatients before and during the COVID-19 pandemic in a German university hospital.
Silber AS, Platte S, Kumar A, Arora S, Kadioglu D, Schmidt M, Storf H, Chiocchetti AG, Freitag CM. Silber AS, et al. Among authors: chiocchetti ag. Front Public Health. 2023 Nov 30;11:1281363. doi: 10.3389/fpubh.2023.1281363. eCollection 2023. Front Public Health. 2023. PMID: 38098830 Free PMC 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: chiocchetti ag. 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.
Association of polygenic risk scores and hair cortisol with mental health trajectories during COVID lockdown.
Ahrens KF, Neumann RJ, von Werthern NM, Kranz TM, Kollmann B, Mattes B, Puhlmann LMC, Weichert D, Lutz B, Basten U, Fiebach CJ, Wessa M, Kalisch R, Lieb K, Chiocchetti AG, Tüscher O, Reif A, Plichta MM. Ahrens KF, et al. Among authors: chiocchetti ag. Transl Psychiatry. 2022 Sep 21;12(1):396. doi: 10.1038/s41398-022-02165-9. Transl Psychiatry. 2022. PMID: 36130942 Free PMC article.
54 results