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Page 1
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC, Rebolledo-Jaramillo B, Lagos C, Orellana J, Moreno G, Martín LM, Encina G, Böhme D, Faundes V, Zavala MJ, Hasbún T, Fischer S, Brito F, Araya D, Lira M, de la Cruz J, Astudillo C, Lay-Son G, Cares C, Aracena M, Martin ES, Coban-Akdemir Z, Posey JE, Lupski JR, Repetto GM. Poli MC, et al. Among authors: repetto gm. Eur J Hum Genet. 2024 Oct;32(10):1227-1237. doi: 10.1038/s41431-023-01523-5. Epub 2024 Jan 4. Eur J Hum Genet. 2024. PMID: 38177409 Free PMC article.
Systems Analysis of the 22q11.2 Microdeletion Syndrome Converges on a Mitochondrial Interactome Necessary for Synapse Function and Behavior.
Gokhale A, Hartwig C, Freeman AAH, Bassell JL, Zlatic SA, Sapp Savas C, Vadlamudi T, Abudulai F, Pham TT, Crocker A, Werner E, Wen Z, Repetto GM, Gogos JA, Claypool SM, Forsyth JK, Bearden CE, Glausier J, Lewis DA, Seyfried NT, Kwong JQ, Faundez V. Gokhale A, et al. Among authors: repetto gm. J Neurosci. 2019 May 1;39(18):3561-3581. doi: 10.1523/JNEUROSCI.1983-18.2019. Epub 2019 Mar 4. J Neurosci. 2019. PMID: 30833507 Free PMC article.
Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis.
Cárdenas GV, Iturriaga C, Hernández CD, Tejos-Bravo M, Pérez-Mateluna G, Cabalin C, Urzúa M, Venegas-Salas LF, Fraga JP, Rebolledo B, Poli MC, Repetto GM, Casanello P, Castro-Rodríguez JA, Borzutzky A. Cárdenas GV, et al. Among authors: repetto gm. Int J Dermatol. 2022 Mar;61(3):310-315. doi: 10.1111/ijd.15887. Epub 2021 Sep 4. Int J Dermatol. 2022. PMID: 34480753
Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.
Sønderby IE, Ching CRK, Thomopoulos SI, van der Meer D, Sun D, Villalon-Reina JE, Agartz I, Amunts K, Arango C, Armstrong NJ, Ayesa-Arriola R, Bakker G, Bassett AS, Boomsma DI, Bülow R, Butcher NJ, Calhoun VD, Caspers S, Chow EWC, Cichon S, Ciufolini S, Craig MC, Crespo-Facorro B, Cunningham AC, Dale AM, Dazzan P, de Zubicaray GI, Djurovic S, Doherty JL, Donohoe G, Draganski B, Durdle CA, Ehrlich S, Emanuel BS, Espeseth T, Fisher SE, Ge T, Glahn DC, Grabe HJ, Gur RE, Gutman BA, Haavik J, Håberg AK, Hansen LA, Hashimoto R, Hibar DP, Holmes AJ, Hottenga JJ, Hulshoff Pol HE, Jalbrzikowski M, Knowles EEM, Kushan L, Linden DEJ, Liu J, Lundervold AJ, Martin-Brevet S, Martínez K, Mather KA, Mathias SR, McDonald-McGinn DM, McRae AF, Medland SE, Moberget T, Modenato C, Monereo Sánchez J, Moreau CA, Mühleisen TW, Paus T, Pausova Z, Prieto C, Ragothaman A, Reinbold CS, Reis Marques T, Repetto GM, Reymond A, Roalf DR, Rodriguez-Herreros B, Rucker JJ, Sachdev PS, Schmitt JE, Schofield PR, Silva AI, Stefansson H, Stein DJ, Tamnes CK, Tordesillas-Gutiérrez D, Ulfarsson MO, Vajdi A, van 't Ent D, van den Bree MBM, Vassos E, Vázquez-Bourgon J, Vila-Rodriguez F, Walters GB, Wen W, Westlye LT… See abstract for full author list ➔ Sønderby IE, et al. Among authors: repetto gm. Hum Brain Mapp. 2022 Jan;43(1):300-328. doi: 10.1002/hbm.25354. Epub 2021 Feb 21. Hum Brain Mapp. 2022. PMID: 33615640 Free PMC article. Review.
The COVID-19 pandemic's impact on worry and medical disruptions reported by individuals with chromosome 22q11.2 copy number variants and their caregivers.
White LK, Crowley TB, Finucane B, Garcia-Minaur S, Repetto GM, van den Bree M, Fischer M, Jacquemont S, Barzilay R, Maillard AM, Donald KA, Gur RE, Bassett AS, Swillen A, McDonald-McGinn DM. White LK, et al. Among authors: repetto gm. J Intellect Disabil Res. 2022 Apr;66(4):313-322. doi: 10.1111/jir.12918. Epub 2022 Feb 21. J Intellect Disabil Res. 2022. PMID: 35191118 Free PMC article.
90 results