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Page 1
Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: yepez va. Eur J Hum Genet. 2024 Dec 10. doi: 10.1038/s41431-024-01756-y. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39658675 No abstract available.
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega AM, Cederroth H, Taylan F, Ekholm K, Ek M, Thonberg H, Jemt A, Nilsson D, Eisfeldt J, Bilgrav Saether K, Höijer I, Akgun-Dogan O, Asano Y, Barakat TS, Batkovskyte D, Baynam G, Bodamer O, Chetruengchai W, Corcoran P, Couse M, Danis D, Demidov G, Dohi E, Erhardsson M, Fernandez-Luna L, Fujiwara T, Garg N, Giugliani R, Gonzaga-Jauregui C, Grigelioniene G, Groza T, Gunnarsson C, Hammarsjö A, Hammond CK, Hatirnaz Ng Ö, Hesketh S, Hettiarachchi D, Johansson Soller M, Kirmani UA, Kjellberg M, Kvarnung M, Kvlividze O, Lagerstedt-Robinson K, Lasko P, Lassmann T, Lau LYS, Laurie S, Lim WK, Liu Z, Lysenkova Wiklander M, Makay P, Maiga AB, Maya-González C, Meyn MS, Neethiraj R, Nigro V, Nordgren F, Nordlund J, Orrsjö S, Ottosson J, Ozbek U, Özdemir Ö, Partin C, Pearce DA, Peck R, Pedersen A, Pettersson M, Pongpanich M, Posada de la Paz M, Ramani A, Romero JA, Romero VI, Rosenquist R, Saw AM, Spencer M, Stattin EL, Srichomthong C, Tapia-Paez I, Taruscio D, Taylor JP, Tkemaladze T, Tully I, Tümer Z, van Zelst-Stams WAG, Verloes A, Västerviga E, Wang S, Yang R, Yamamoto S, Yépez VA, Zhang Q, Shotelersuk V, Wiafe SA, Alanay Y, Botto LD, Kirmani S, Lumaka A, Palmer EE, Puri RD,… See abstract for full author list ➔ Delgado-Vega AM, et al. Among authors: yepez va. Nat Genet. 2024 Nov;56(11):2287-2294. doi: 10.1038/s41588-024-01941-1. Nat Genet. 2024. PMID: 39433890 No abstract available.
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.
Estévez-Arias B, Matalonga L, Yubero D, Polavarapu K, Codina A, Ortez C, Carrera-García L, Expósito-Escudero J, Jou C, Meyer S, Kilicarslan OA, Aleman A, Thompson R, Luknárová R, Esteve-Codina A, Gut M, Laurie S, Demidov G, Yépez VA, Beltran S, Gagneur J, Topf A, Lochmüller H, Nascimento A, Hoenicka J, Palau F, Natera-de Benito D. Estévez-Arias B, et al. Among authors: yepez va. Eur J Hum Genet. 2024 Sep 27. doi: 10.1038/s41431-024-01699-4. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39333429
Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.
Morales-Romero B, Muñoz-Pujol G, Artuch R, García-Cazorla A, O'Callaghan M, Sykut-Cegielska J, Campistol J, Moreno-Lozano PJ, Oud MM, Wevers RA, Lefeber DJ, Esteve-Codina A, Yepez VA, Gagneur J, Wortmann SB, Prokisch H, Ribes A, García-Villoria J, Tort F. Morales-Romero B, et al. Among authors: yepez va. Mol Genet Metab. 2024 Jul;142(3):108511. doi: 10.1016/j.ymgme.2024.108511. Epub 2024 Jun 6. Mol Genet Metab. 2024. PMID: 38878498
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W, Sagath L, Demidov G, Yépez VA, Esteve-Codina A, Gagneur J, Ellwanger K, Derks R, Weiss M, den Ouden A, van den Heuvel S, Swinkels H, Zomer N, Steehouwer M, O'Gorman L, Astuti G, Neveling K, Schüle R, Xu J, Synofzik M, Beijer D, Hengel H, Schöls L, Claeys KG, Baets J, Van de Vondel L, Ferlini A, Selvatici R, Morsy H, Saeed Abd Elmaksoud M, Straub V, Müller J, Pini V, Perry L, Sarkozy A, Zaharieva I, Muntoni F, Bugiardini E, Polavarapu K, Horvath R, Reid E, Lochmüller H, Spinazzi M, Savarese M; Solve-RD DITF-ITHACA; Solve-RD DITF-Euro-NMD; Solve-RD DITF-RND; Solve-RD DITF-EpiCARE; Matalonga L, Laurie S, Brunner HG, Graessner H, Beltran S, Ossowski S, Vissers LELM, Gilissen C, Hoischen A. Steyaert W, et al. Among authors: yepez va. medRxiv [Preprint]. 2024 May 4:2024.05.03.24305331. doi: 10.1101/2024.05.03.24305331. medRxiv. 2024. PMID: 38746462 Free PMC article. Preprint.
Cellular energy regulates mRNA degradation in a codon-specific manner.
Tomaz da Silva P, Zhang Y, Theodorakis E, Martens LD, Yépez VA, Pelechano V, Gagneur J. Tomaz da Silva P, et al. Among authors: yepez va. Mol Syst Biol. 2024 May;20(5):506-520. doi: 10.1038/s44320-024-00026-9. Epub 2024 Mar 15. Mol Syst Biol. 2024. PMID: 38491213 Free PMC article.
Modeling fragment counts improves single-cell ATAC-seq analysis.
Martens LD, Fischer DS, Yépez VA, Theis FJ, Gagneur J. Martens LD, et al. Among authors: yepez va. Nat Methods. 2024 Jan;21(1):28-31. doi: 10.1038/s41592-023-02112-6. Epub 2023 Dec 4. Nat Methods. 2024. PMID: 38049697 Free PMC article.
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