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Page 1
GIGYF1 disruption associates with autism and impaired IGF-1R signaling.
Chen G, Yu B, Tan S, Tan J, Jia X, Zhang Q, Zhang X, Jiang Q, Hua Y, Han Y, Luo S, Hoekzema K, Bernier RA, Earl RK, Kurtz-Nelson EC, Idleburg MJ, Madan-Khetarpal S, Clark R, Sebastian J, Fernandez-Jaen A, Alvarez S, King SD, Ramos LL, Santos MLS, Martin DM, Brooks D, Symonds JD, Cutcutache I, Pan Q, Hu Z, Yuan L, Eichler EE, Xia K, Guo H. Chen G, et al. J Clin Invest. 2022 Oct 3;132(19):e159806. doi: 10.1172/JCI159806. J Clin Invest. 2022. PMID: 35917186 Free PMC article.
Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.
Johnson BV, Kumar R, Oishi S, Alexander S, Kasherman M, Vega MS, Ivancevic A, Gardner A, Domingo D, Corbett M, Parnell E, Yoon S, Oh T, Lines M, Lefroy H, Kini U, Van Allen M, Grønborg S, Mercier S, Küry S, Bézieau S, Pasquier L, Raynaud M, Afenjar A, Billette de Villemeur T, Keren B, Désir J, Van Maldergem L, Marangoni M, Dikow N, Koolen DA, VanHasselt PM, Weiss M, Zwijnenburg P, Sa J, Reis CF, López-Otín C, Santiago-Fernández O, Fernández-Jaén A, Rauch A, Steindl K, Joset P, Goldstein A, Madan-Khetarpal S, Infante E, Zackai E, Mcdougall C, Narayanan V, Ramsey K, Mercimek-Andrews S, Pena L, Shashi V; Undiagnosed Diseases Network; Schoch K, Sullivan JA, Pinto E Vairo F, Pichurin PN, Ewing SA, Barnett SS, Klee EW, Perry MS, Koenig MK, Keegan CE, Schuette JL, Asher S, Perilla-Young Y, Smith LD, Rosenfeld JA, Bhoj E, Kaplan P, Li D, Oegema R, van Binsbergen E, van der Zwaag B, Smeland MF, Cutcutache I, Page M, Armstrong M, Lin AE, Steeves MA, Hollander ND, Hoffer MJV, Reijnders MRF, Demirdas S, Koboldt DC, Bartholomew D, Mosher TM, Hickey SE, Shieh C, Sanchez-Lara PA, Graham JM Jr, Tezcan K, Schaefer GB, Danylchuk NR, Asamoah A, Jackson KE, Yachelevich N, Au M, Pérez-Jurado LA, Kleef… See abstract for full author list ➔ Johnson BV, et al. Biol Psychiatry. 2020 Jan 15;87(2):100-112. doi: 10.1016/j.biopsych.2019.05.028. Epub 2019 Jun 29. Biol Psychiatry. 2020. PMID: 31443933 Free PMC article.
ANO3 and early-onset dyskinetic encephalopathy.
Jiménez de Domingo A, Lopez-Martín S, Albert J, Jiménez de la Peña M, Tirado P, Fernández-Mayoralas DM, Fernández-Perrone AL, Calleja-Pérez B, Martínez-García M, Álvarez S, Fernández-Jaén A. Jiménez de Domingo A, et al. Eur J Med Genet. 2020 Dec;63(12):104085. doi: 10.1016/j.ejmg.2020.104085. Epub 2020 Oct 9. Eur J Med Genet. 2020. PMID: 33045406
Biallelic ELMO3 mutations and loss of function for DOCK-mediated RAC1 activation result in intellectual disability.
Tran V, Goyette MA, Martínez-García M, Jiménez de Domingo A, Fernández-Mayoralas DM, Fernández-Perrone AL, Tirado P, Calleja-Pérez B, Álvarez S, Côté JF, Fernández-Jaén A. Tran V, et al. Small GTPases. 2022 Jan;13(1):48-55. doi: 10.1080/21541248.2021.1888557. Epub 2021 Mar 4. Small GTPases. 2022. PMID: 33660564 Free PMC article.
Neuroimaging Findings in Patients with EBF3 Mutations: Report of Two Cases.
Jiménez de la Peña M, Jiménez de Domingo A, Tirado P, Calleja-Pérez B, Alcaraz LA, Álvarez S, Williams J, Hagman JR, Németh AH, Fernández-Jaén A. Jiménez de la Peña M, et al. Mol Syndromol. 2021 Jun;12(3):186-193. doi: 10.1159/000513583. Epub 2021 Apr 9. Mol Syndromol. 2021. PMID: 34177436 Free PMC article.
A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation.
Lopez-Martín S, Albert J, Peña Vila-Belda MDM, Liu X, Zhang ZC, Han J, Jiménez de Domingo A, Fernández-Mayoralas DM, Fernández-Perrone AL, Calleja-Pérez B, Álvarez S, Fernández-Jaén A. Lopez-Martín S, et al. Appl Neuropsychol Child. 2022 Oct-Dec;11(4):921-927. doi: 10.1080/21622965.2021.1970551. Epub 2021 Sep 1. Appl Neuropsychol Child. 2022. PMID: 34470565
DYNC1H1de novo mutation, spinal muscular atrophy and attention problems.
Fernández Perrone AL, Moreno Fernández P, Álvarez S, Fernández-Jaén A. Fernández Perrone AL, et al. Neurologia (Engl Ed). 2022 Jun;37(5):406-409. doi: 10.1016/j.nrl.2021.08.001. Epub 2021 Sep 10. Neurologia (Engl Ed). 2022. PMID: 34518024 Free article. English, Spanish. No abstract available.
128 results