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Indel variant analysis of short-read sequencing data with Scalpel.
Fang H, Bergmann EA, Arora K, Vacic V, Zody MC, Iossifov I, O'Rawe JA, Wu Y, Jimenez Barron LT, Rosenbaum J, Ronemus M, Lee YH, Wang Z, Dikoglu E, Jobanputra V, Lyon GJ, Wigler M, Schatz MC, Narzisi G. Fang H, et al. Among authors: jimenez barron lt. Nat Protoc. 2016 Dec;11(12):2529-2548. doi: 10.1038/nprot.2016.150. Epub 2016 Nov 17. Nat Protoc. 2016. PMID: 27854363 Free PMC article.
Distinct genetic liability profiles define clinically relevant patient strata across common diseases.
Trastulla L, Moser S, Jiménez-Barrón LT, Andlauer TFM, von Scheidt M; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Budde M, Heilbronner U, Papiol S, Teumer A, Homuth G, Falkai P, Völzke H, Dörr M, Schulze TG, Gagneur J, Iorio F, Müller-Myhsok B, Schunkert H, Ziller MJ. Trastulla L, et al. Among authors: jimenez barron lt. medRxiv. 2023 May 11:2023.05.10.23289788. doi: 10.1101/2023.05.10.23289788. Preprint. medRxiv. 2023. PMID: 37214898 Free PMC article.
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations.
O'Rawe JA, Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS, Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie A, Rivière JB, Monaghan KG, Wang K, Davis EE, Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM, Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ. O'Rawe JA, et al. Among authors: jimenez barron lt. Am J Hum Genet. 2015 Dec 3;97(6):922-32. doi: 10.1016/j.ajhg.2015.11.005. Am J Hum Genet. 2015. PMID: 26637982 Free PMC article.