Raul A. Urrutia, MD

Publications

• Erratum: Impact of integrated translational research on clinical exome sequencing (Genetics in Medicine (2021) 23(3) (498–507), (S1098360021049455), (10.1038/s41436-020-01005-9))

  (Klee EW, Cousin MA, Pinto e Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN.) Genetics in Medicine. February 2023;25(2) SCOPUS ID: 2-s2.0-85146870414 02/01/2023

• Stripe transcription factors provide accessibility to co-binding partners in mammalian genomes.

  (Zhao Y, Vartak SV, Conte A, Wang X, Garcia DA, Stevens E, Kyoung Jung S, Kieffer-Kwon KR, Vian L, Stodola T, Moris F, Chopp L, Preite S, Schwartzberg PL, Kulinski JM, Olivera A, Harly C, Bhandoola A, Heuston EF, Bodine DM, Urrutia R, Upadhyaya A, Weirauch MT, Hager G, Casellas R.) Mol Cell. 2022 Sep 15;82(18):3398-3411.e11 PMID: 35863348 PMCID: PMC9481673 SCOPUS ID: 2-s2.0-85137823096 07/22/2022

• NUPR1 protects against hyperPARylation-dependent cell death.

  (Santofimia-Castaño P, Huang C, Liu X, Xia Y, Audebert S, Camoin L, Peng L, Lomberk G, Urrutia R, Soubeyran P, Neira JL, Iovanna J.) Commun Biol. 2022 Jul 22;5(1):732 PMID: 35869257 PMCID: PMC9307593 SCOPUS ID: 2-s2.0-85134559984 07/23/2022

• Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.

  (Cousin MA, Veale EL, Dsouza NR, Tripathi S, Holden RG, Arelin M, Beek G, Bekheirnia MR, Beygo J, Bhambhani V, Bialer M, Bigoni S, Boelman C, Carmichael J, Courtin T, Cogne B, Dabaj I, Doummar D, Fazilleau L, Ferlini A, Gavrilova RH, Graham JM Jr, Haack TB, Juusola J, Kant SG, Kayani S, Keren B, Ketteler P, Klöckner C, Koopmann TT, Kruisselbrink TM, Kuechler A, Lambert L, Latypova X, Lebel RR, Leduc MS, Leonardi E, Lewis AM, Liew W, Machol K, Mardini S, McWalter K, Mignot C, McLaughlin J, Murgia A, Narayanan V, Nava C, Neuser S, Nizon M, Ognibene D, Park J, Platzer K, Poirsier C, Radtke M, Ramsey K, Runke CK, Guillen Sacoto MJ, Scaglia F, Shinawi M, Spranger S, Tan ES, Taylor J, Trentesaux AS, Vairo F, Willaert R, Zadeh N, Urrutia R, Babovic-Vuksanovic D, Zimmermann MT, Mathie A, Klee EW.) Genome Med. 2022 Jun 13;14(1):62 PMID: 35698242 PMCID: PMC9195326 SCOPUS ID: 2-s2.0-85131795908 06/14/2022

• To ChIP, or to CUT, that is the question: Comparative Evaluation of NextGen Methodologies for Studying the genome-wide distribution of Histone H3 Lysine 9 di-methyl mark in pancreatic cells.

  (Urrutia G, Abrudan JL, Du M, de Assuncao TM, Mathison AJ, Zimmermann MT, Lomberk G, Urrutia R.) FASEB J. 2022 May;36 Suppl 1 PMID: 35556470 SCOPUS ID: 2-s2.0-85130072518 05/14/2022

• Transcriptional Landscape Established by the Euchromatic Histone-lysine N-methyltransferase Pathway During Pancreas Ontogenesis and Pancreatitis.

  (Urrutia R, Salmonson A, Urrutia G, de Assuncao TM, Zimmermann MT, Mathison AJ, Lomberk G.) FASEB J. 2022 May;36 Suppl 1 PMID: 35556469 SCOPUS ID: 2-s2.0-85130010001 05/14/2022

• Defining the Mutational Landscape That Affects the Histone Demethylase KDM6A/UTX in Human Cancer.

  (Chi YI, Stodola TJ, de Assuncao TM, Volkman B, Smith B, Mathison AJ, Lomberk G, Zimmermann MT, Urrutia R.) FASEB J. 2022 May;36 Suppl 1 PMID: 35555661 SCOPUS ID: 2-s2.0-85130046941 05/14/2022

• Integrative Modeling, Molecular Mechanics, and Molecular Dynamics Evaluation of Genomics Variants in KMT2C (MLL3), a Gene Involved in Kleefstra Syndrome Type 2.

  (Jorge SD, Chi YI, de Assuncao TM, Mathison AJ, Volkman B, Smith B, Lomberk G, Zimmermann MT, Urrutia R.) FASEB J. 2022 May;36 Suppl 1 PMID: 35553749 SCOPUS ID: 2-s2.0-85130006059 05/14/2022

• Epigenomic mechanisms used by KrasG12D to regulate inflammatory gene clusters in epithelial pancreatic cancer cells, which are critical for reprogramming the tumor microenvironment.

  (Du M, Abrudan JL, Urrutia G, de Assuncao TM, Mathison AJ, Zimmermann MT, Lomberk G, Urrutia R.) FASEB J. 2022 May;36 Suppl 1 PMID: 35552230 SCOPUS ID: 2-s2.0-85130057842 05/14/2022

• Multi-omics data integration and modeling unravels new mechanisms for pancreatic cancer and improves prognostic prediction

  (Fraunhoffer NA, Abuelafia AM, Bigonnet M, Gayet O, Roques J, Nicolle R, Lomberk G, Urrutia R, Dusetti N, Iovanna J.) npj Precision Oncology. December 2022;6(1) SCOPUS ID: 2-s2.0-85136999952 12/01/2022

• Precision medicine in trauma: a transformational frontier in patient care, education, and research

  (Davis CS, Wilkinson KH, Lin E, Carpenter NJ, Georgeades C, Lomberk G, Urrutia R.) European Journal of Trauma and Emergency Surgery. August 2022;48(4):2607-2612 SCOPUS ID: 2-s2.0-85119154805 08/01/2022

• Structural bioinformatics enhances the interpretation of somatic mutations in KDM6A found in human cancers.

  (Chi YI, Stodola TJ, De Assuncao TM, Leverence EN, Smith BC, Volkman BF, Mathison AJ, Lomberk G, Zimmermann MT, Urrutia R.) Comput Struct Biotechnol J. 2022;20:2200-2211 PMID: 35615018 PMCID: PMC9111933 SCOPUS ID: 2-s2.0-85130080827 05/27/2022