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Genètica Luis Alberto Pérez Jurado

Publicacions 2024 (9)

• Turón-Viñas E^*, Boronat S, Gich I, González-Álvarez V, García-Puig M, Camós-Carreras M, Rodríguez-Palmero A, Felipe-Rucián A, Aznar-Laín G, Jiménez-Fàbrega X, Pérez de la Ossa N, Catalan Pediatric Stroke Study Group. Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE. Stroke 2024; 55(9): 2240-2246.
• Zykaj E, Abboud C, Asadi P, Warsame S, Almousa H, Milev MP, Greco BM, López-Sánchez M, Bratkovic D, Kachroo AH, Pérez-Jurado L, Sacher M^*. A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1-Associated Neurodevelopmental Syndrome. Cells 2024; 13(17): 1457.
• De Giorgis V, Pasca L^*, Aznar G, Bibic I, Bibic V, Darra F, Dianin A, Dressler A, Jonsson H, Komulainen-Ebrahim J, Kverneland M, Molteberg E, Ragona F, de Saint-Martin A, Varesio C, Cross JH, ERN EpiCARE Ketogenic Dietary Therapy Special Interest Group (KDT SIG). Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey. Epilepsia Open . 2024; 9(4): 1582-1588.
• Awamleh Z, Choufani S, Wu W, Rots D, Dingemans AJM, Nadif-Kasri N, Boronat S, Ibañez-Mico S, Cuesta-Herraiz L, Ferrer I, Martinez-Carrascal A, Pérez-Jurado L, Aznar G, Ortigoza-Escobar JD, de Vries BB, Koolen DA^*, Weksberg R^*. A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. Eur J Hum Genet 2024; 32(3): 324-332.
• Ruiz-Arenas C^*, Marín-Goñi I, Wang L, Ochoa I, Pérez-Jurado L, Hernaez M^*. NetActivity enhances transcriptional signals by combining gene expression into robust gene set activity scores through interpretable autoencoders. Nucleic Acids Res 2024; 52(9): e44.
• Dias KR, Shrestha R, Schofield D, Evans CA, O'Heir E, Zhu Y, Zhang F, Standen K, Weisburd B, Stenton SL, Sanchis-Juan A, Brand H, Talkowski ME, Ma A, Ghedia S, Wilson M, Sandaradura SA, Smith J, Kamien B, Turner A, Bakshi M, Adès LC, Mowat D, Regan M, McGillivray G, Savarirayan R, White SM, Tan TY, Stark Z, Brown NJ, Pérez-Jurado L, Krzesinski E, Hunter MF, Akesson L, Fennell AP, Yeung A, Boughtwood T, Ewans LJ, Kerkhof J, Lucas C, Carey L, French H, Rapadas M, Stevanovski I, Deveson IW, Cliffe C, Elakis G, Kirk EP, Dudding-Byth T, Fletcher J, Walsh R, Corbett MA, Kroes T, Gecz J, Meldrum C, Cliffe S, Wall M, Lunke S, North K, Amor DJ, Field M, Sadikovic B, Buckley MF, O'Donnell-Luria A, Roscioli T^*. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort. Genet Med 2024; 26(5): 101076.
• Rovira-López R, Pérez-Jurado L, Pujol RM. Macrocheilia as an Atypical Clinical Presentation of Capillary Malformation-Arteriovenous Malformation Type 2. JAMA Dermatol 2024; 160(4): 474-476.
• Pérez-Jurado L^*, Cáceres A, Balagué-Dobón L, Esko T, Lopez de Heredia M, Quintela I, Cruz R, Lapunzina P, Carracedo Á, González JR^*, SCOURGE Cohort Group. Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. Commun Biol 2024; 7(1): 202.
• Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, VAN Haaften, Granger L, Petersen AK, Pérez-Jurado L, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, Mccormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them, Fernandez-Garcia L, García-Miñaúr S, Osmond M, Chad L, Quercia N, Carrasco D, Li C, Sanchez-Valle A, Kelley M, Nizon M, Jensson BO, Sulem P, Stefansson K, Gorokhova S, Busa T, Rio M, Hadj Habdallah, Lesieur-Sebellin M, Amiel J, Pingault V, Mercier S, Vincent M, Philippe C, Fatus-Fauconnier C, Friend K, Halligan RK, Biswas S, Rosser J, Shoubridge C, Corbett M, Barnett C, Gecz J, Leppig K, Slavotinek A, Marcelis C, Pfundt R, de Vries BB, van Slegtenhorst MA, Brooks AS, Cogne B, Rambaud T, Tümer Z, Zackai EH, Akizu N, Song Y, Hakonarson H. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. J Clin Invest 2024; 134(1): e171235.