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Polygenic risk for schizophrenia converges on alternative polyadenylation as molecular mechanism underlying synaptic impairment.
bioRxiv [Preprint]. 2024 Jan 13:2024.01.09.574815. doi: 10.1101/2024.01.09.574815.
bioRxiv. 2024.
PMID: 38260577
Free PMC article.
Preprint.
Massively parallel functional dissection of schizophrenia-associated noncoding genetic variants.
Rummel CK, Gagliardi M, Ahmad R, Herholt A, Jimenez-Barron L, Murek V, Weigert L, Hausruckinger A, Maidl S, Hauger B, Raabe FJ, Fürle C, Trastulla L, Turecki G, Eder M, Rossner MJ, Ziller MJ.
Rummel CK, et al. Among authors: jimenez barron l.
Cell. 2023 Nov 9;186(23):5165-5182.e33. doi: 10.1016/j.cell.2023.09.015. Epub 2023 Oct 17.
Cell. 2023.
PMID: 37852259
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Cell type and condition specific functional annotation of schizophrenia associated non-coding genetic variants.
Rummel CK, Gagliardi M, Herholt A, Ahmad R, Murek V, Weigert L, Hausruckinger A, Maidl S, Jimenez-Barron L, Trastulla L, Eder M, Rossner M, Ziller MJ.
Rummel CK, et al. Among authors: jimenez barron l.
bioRxiv [Preprint]. 2023 Jun 27:2023.06.27.545266. doi: 10.1101/2023.06.27.545266.
bioRxiv. 2023.
PMID: 37425902
Free PMC article.
Preprint.
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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 [Preprint]. 2023 May 11:2023.05.10.23289788. doi: 10.1101/2023.05.10.23289788.
medRxiv. 2023.
PMID: 37214898
Free PMC article.
Preprint.
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Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H, Wu Y, Yang H, Yoon M, Jiménez-Barrón LT, Mittelman D, Robison R, Wang K, Lyon GJ.
Fang H, et al. Among authors: jimenez barron lt.
BMC Med Genomics. 2017 Feb 23;10(1):10. doi: 10.1186/s12920-017-0246-5.
BMC Med Genomics. 2017.
PMID: 28228131
Free PMC article.
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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.
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Genome-wide variant analysis of simplex autism families with an integrative clinical-bioinformatics pipeline.
Jiménez-Barrón LT, O'Rawe JA, Wu Y, Yoon M, Fang H, Iossifov I, Lyon GJ.
Jiménez-Barrón LT, et al.
Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000422. doi: 10.1101/mcs.a000422.
Cold Spring Harb Mol Case Stud. 2015.
PMID: 27148569
Free PMC article.
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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.
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