Surgery

Publications

• 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. 2021 Mar;23(3):498-507 PMID: 33144682 SCOPUS ID: 2-s2.0-85094871921 11/05/2020

• Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction.

  (Chi YI, Stodola TJ, De Assuncao TM, Levrence EN, Tripathi S, Dsouza NR, Mathison AJ, Basel DG, Volkman BF, Smith BC, Lomberk G, Zimmermann MT, Urrutia R.) Orphanet J Rare Dis. 2021 Feb 05;16(1):66 PMID: 33546721 PMCID: PMC7866879 SCOPUS ID: 2-s2.0-85100579633 02/07/2021

• Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

  (Zimmermann MT, Mathison AJ, Stodola T, Evans DB, Abrudan JL, Demos W, Tschannen M, Aldakkak M, Geurts J, Lomberk G, Tsai S, Urrutia R.) Front Oncol. 2021;11:606820 PMID: 33747920 PMCID: PMC7973372 SCOPUS ID: 2-s2.0-85102941394 03/23/2021

• Inorganic arsenic promotes luminal to basal transition and metastasis of breast cancer.

  (Danes JM, de Abreu ALP, Kerketta R, Huang Y, Palma FR, Gantner BN, Mathison AJ, Urrutia RA, Bonini MG.) FASEB J. 2020 Dec;34(12):16034-16048 PMID: 33047385 SCOPUS ID: 2-s2.0-85092336914 10/14/2020

• Variant anatomy of the biliary system as a cause of pancreatic and peri-ampullary cancers.

  (Muraki T, Reid MD, Pehlivanoglu B, Gonzalez RS, Sekhar A, Memis B, Xue Y, Cheng J, Jang KT, Mittal P, Cardona K, Kooby DA, Maithel S, Sarmiento JM, El-Rayes B, Lomberk G, Urrutia RA, Christians K, Tsai S, Evans DB, Adsay V.) HPB (Oxford). 2020 Dec;22(12):1675-1685 PMID: 32336556 SCOPUS ID: 2-s2.0-85083637358 04/28/2020

• Structural Bioinformatics Enhances Mechanistic Interpretation of Genomic Variation, Demonstrated Through the Analyses of 935 Distinct RAS Family Mutations.

  (Tripathi S, Dsouza NR, Urrutia R, Zimmermann MT.) Bioinformatics. 2020 Nov 23 PMID: 33226070 11/24/2020

• The Promise of Circulating Tumor DNA (ctDNA) in the Management of Early-Stage Colon Cancer: A Critical Review.

  (Chakrabarti S, Xie H, Urrutia R, Mahipal A.) Cancers (Basel). 2020 09 29;12(10) PMID: 33003583 PMCID: PMC7601010 10/03/2020

• ZZW-115-dependent inhibition of NUPR1 nuclear translocation sensitizes cancer cells to genotoxic agents.

  (Lan W, Santofimia-Castaño P, Swayden M, Xia Y, Zhou Z, Audebert S, Camoin L, Huang C, Peng L, Jiménez-Alesanco A, Velázquez-Campoy A, Abián O, Lomberk G, Urrutia R, Rizzuti B, Geli V, Soubeyran P, Neira JL, Iovanna J.) JCI Insight. 2020 09 17;5(18) PMID: 32780723 PMCID: PMC7526551 SCOPUS ID: 2-s2.0-85090785767 08/12/2020

• Targeting the CBP/β-Catenin Interaction to Suppress Activation of Cancer-Promoting Pancreatic Stellate Cells.

  (Che M, Kweon SM, Teo JL, Yuan YC, Melstrom LG, Waldron RT, Lugea A, Urrutia RA, Pandol SJ, Lai KKY.) Cancers (Basel). 2020 Jun 05;12(6) PMID: 32516943 PMCID: PMC7352534 06/11/2020

• Single-cell transcriptome reveals the novel role of T-bet in suppressing the immature NK gene signature.

  (Yang C, Siebert JR, Burns R, Zheng Y, Mei A, Bonacci B, Wang D, Urrutia RA, Riese MJ, Rao S, Carlson KS, Thakar MS, Malarkannan S.) Elife. 2020 05 14;9 PMID: 32406817 PMCID: PMC7255804 SCOPUS ID: 2-s2.0-85085630468 05/15/2020

• Motor Neuron Generation from iPSCs from Identical Twins Discordant for Amyotrophic Lateral Sclerosis.

  (Seminary ER, Santarriaga S, Wheeler L, Mejaki M, Abrudan J, Demos W, Zimmermann MT, Urrutia RA, Fee D, Barkhaus PE, Ebert AD.) Cells. 2020 02 28;9(3) PMID: 32121108 PMCID: PMC7140469 SCOPUS ID: 2-s2.0-85092221701 03/04/2020

• PAX1 is essential for development and function of the human thymus.

  (Yamazaki Y, Urrutia R, Franco LM, Giliani S, Zhang K, Alazami AM, Dobbs AK, Masneri S, Joshi A, Otaizo-Carrasquero F, Myers TG, Ganesan S, Bondioni MP, Ho ML, Marks C, Alajlan H, Mohammed RW, Zou F, Valencia CA, Filipovich AH, Facchetti F, Boisson B, Azzari C, Al-Saud BK, Al-Mousa H, Casanova JL, Abraham RS, Notarangelo LD.) Sci Immunol. 2020 02 28;5(44) PMID: 32111619 PMCID: PMC7189207 SCOPUS ID: 2-s2.0-85081071846 03/01/2020