Raul A. Urrutia, MD

Publications

• Advanced computational analysis of CD40LG variants in atypical X-linked hyper-IgM syndrome.

  (Pazhanisamy A, Jorge SD, Zimmermann MT, Kitcharoensakkul M, Abdalgani M, Khojah A, Victor C, Rueda C, Urrutia R, Abraham RS.) Clin Immunol. 2023 Aug;253:109692 PMID: 37433422 SCOPUS ID: 2-s2.0-85164736502 07/12/2023

• KLF5 and p53 comprise an incoherent feed-forward loop directing cell-fate decisions following stress.

  (Yang Y, Bhargava D, Chen X, Zhou T, Dursuk G, Jiang W, Wang J, Zong Z, Katz SI, Lomberk GA, Urrutia RA, Katz JP.) Cell Death Dis. 2023 May 02;14(5):299 PMID: 37130837 PMCID: PMC10154356 SCOPUS ID: 2-s2.0-85157983058 05/03/2023

• Prognostic landscape of mitochondrial genome in myelodysplastic syndrome after stem-cell transplantation.

  (Dong J, Buradagunta CS, Zhang T, Spellman S, Bolon YT, DeZern AE, Gadalla SM, Deeg HJ, Nazha A, Cutler C, Cheng C, Urrutia R, Auer P, Saber W.) J Hematol Oncol. 2023 Mar 10;16(1):21 PMID: 36899395 PMCID: PMC9999628 SCOPUS ID: 2-s2.0-85149930611 03/11/2023

• Impact of integrated translational research on clinical exome sequencing.

  (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.) Genet Med. 2023 Feb;25(2):100359 PMID: 36745126 SCOPUS ID: 2-s2.0-85146870414 02/07/2023

• The splanchnic mesenchyme is the tissue of origin for pancreatic fibroblasts during homeostasis and tumorigenesis.

  (Han L, Wu Y, Fang K, Sweeney S, Roesner UK, Parrish M, Patel K, Walter T, Piermattei J, Trimboli A, Lefler J, Timmers CD, Yu XZ, Jin VX, Zimmermann MT, Mathison AJ, Urrutia R, Ostrowski MC, Leone G.) Nat Commun. 2023 Jan 03;14(1):1 PMID: 36596776 PMCID: PMC9810714 SCOPUS ID: 2-s2.0-85145429848 01/04/2023

• Priming therapy by targeting enhancer-initiated pathways in patient-derived pancreatic cancer cells

  (Fraunhoffer NA, Moreno Vega AI, Abuelafia AM, Morvan M, Lebarbier E, Mary-Huard T, Zimmermann M, Lomberk G, Urrutia R, Dusetti N, Blum Y, Nicolle R, Iovanna J.) eBioMedicine. June 2023;92 SCOPUS ID: 2-s2.0-85154565512 06/01/2023

• 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

• 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