Publications Print Ferrer A, Duffy P, Olson RJ, Meiners MA, Schultz-Rogers L, Macke EL, Safgren S, Morales-Rosado JA, Cousin MA, Oliver GR, Rider D, Williams M, Pichurin PN, Deyle DR, Morava E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Kaiwar C, Vitek CR, McAllister TM, Wick MJ, Schimmenti LA, Lazaridis KN, Vairo FPE, Klee EW. Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data. Hum Genet. 2024 May; 143 (5):649-666 Epub 2024 Mar 27 View PubMed Reddy P, Nair KS, Kumar V, Bowen JM, Deyle DR, Pochettino A, Connolly HM, Anavekar NS. Thoracic Aortic Aneurysmal Disease: Comprehensive Recommendations for the Primary Care Physician. Mayo Clin Proc. 2024 Jan; 99 (1):111-123 View PubMed Semler O, Cormier-Daire V, Lausch E, Bober MB, Carroll R, Sousa SB, Deyle D, Faden M, Hartmann G, Huser AJ, Legare JM, Mohnike K, Rohrer TR, Rutsch F, Smith P, Travessa AM, Verardo A, White KK, Wilcox WR, Hoover-Fong J. Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice. Adv Ther. 2024 Jan; 41 (1):198-214 Epub 2023 Oct 26 View PubMed 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. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2023 Feb; 25 (2):100359 View PubMed Thaler R, Khani F, Sturmlechner I, Dehghani SS, Denbeigh JM, Zhou X, Pichurin O, Dudakovic A, Jerez SS, Zhong J, Lee JH, Natarajan R, Kalajzic I, Jiang YH, Deyle DR, Paschalis EP, Misof BM, Ordog T, van Wijnen AJ. Vitamin C epigenetically controls osteogenesis and bone mineralization. Nat Commun. 2022 Oct 6; 13 (1):5883 Epub 2022 Oct 06 View PubMed Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquiere B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E. TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability. Genet Med. 2022 Apr; 24 (4):894-904 Epub 2022 Jan 15 View PubMed Elsisy MF, Pochettino A, Dearani JA, Bower TC, McBane RD 2nd, Graham GC, Deyle DR, Bonnichsen CR, Stephens EH. Early and Late Outcomes of Cardiovascular Surgery in Patients With Ehlers-Danlos Syndrome. World J Pediatr Congenit Heart Surg. 2021 Nov; 12 (6):773-777 View PubMed Agre K, Essendrup A, Koellner C, Rust L, Deyle D. Examining career shadowing in genetic counseling: Perspectives of shadowees, program directors, and genetic counselors. J Genet Couns. 2021 Oct; 30 (5):1428-1439 Epub 2021 Mar 31 View PubMed Gupta N, Gregory SW, Deyle DR, Tebben PJ. Three Patient Kindred with a Novel Phenotype of Osteogenesis Imperfecta due to a COL1A1 Variant J Clin Res Pediatr Endocrinol. 2021 Jun 2; 13 (2):218-224 Epub 2020 June 10 View PubMed 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. Impact of integrated translational research on clinical exome sequencing. Genet Med. 2021 Mar; 23(3):498-507. Epub 2020 Nov 04. View PubMed Deyle DR. Generation of Induced Pluripotent Stem Cells. Methods Mol Biol. 2021; 2221:71-87 View PubMed Robinson HK, Zaklyazminskaya E, Povolotskaya I, Surikova Y, Mallin L, Armstrong C, Mabin D, Benke PJ, Chrisant MR, McDonald M, Marboe CC, Agre KE, Deyle DR, McWalter K, Douglas G, Balashova MS, Kaimonov V, Shirokova N, Pomerantseva E, Turner CL, Ellard S. Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy. Clin Genet. 2020 Oct; 98 (4):331-340 Epub 2020 Aug 02 View PubMed Gluscevic M, Paradise CR, Dudakovic A, Karperien M, Dietz AB, van Wijnen AJ, Deyle DR. Functional expression of ZNF467 and PCBP2 supports adipogenic lineage commitment in adipose-derived mesenchymal stem cells. Gene. 2020 May 5; 737:144437 Epub 2020 Feb 04 View PubMed Castro M, Venkateswaran N, Peters ST, Deyle DR, Bower M, Koob MD, Boeve BF, Vossel K. Case Report: Early-Onset Behavioral Variant Frontotemporal Dementia in Patient With Retrotransposed Full-Length Transcript of Matrin-3 Variant 5. Front Neurol. 2020; 11:600468 Epub 2020 Dec 21 View PubMed Russell SJ, Babovic-Vuksanovic D, Bexon A, Cattaneo R, Dingli D, Dispenzieri A, Deyle DR, Federspiel MJ, Fielding A, Galanis E, Lacy MQ, Leibovich BC, Liu MC, Munoz-Alia M, Miest TC, Molina JR, Mueller S, Okuno SH, Packiriswamy N, Peikert T, Raffel C, Van Rhee F, Ungerechts G, Young PR, Zhou Y, Peng KW. Oncolytic Measles Virotherapy and Opposition to Measles Vaccination. Mayo Clin Proc. 2019 Sep; 94 (9):1834-1839 Epub 2019 June 22 View PubMed Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Baena N, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muino-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins Ii TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Correction: Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2019 Aug; 21 (8):1894-1895 View PubMed Rolfes MC, Deyle DR, King KS, Hand JL, Graff AH, Derauf C. Fracture incidence in Ehlers-Danlos syndrome - A population-based case-control study. Child Abuse Negl. 2019 May; 91:95-101 Epub 2019 Mar 08 View PubMed Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diez NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muino-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Arterial tortuosity syndrome: 40 new families and literature review. Genet Med. 2018 Oct; 20 (10):1236-1245 Epub 2018 Jan 11 View PubMed Samsonraj RM, Paradise CR, Dudakovic A, Sen B, Nair AA, Dietz AB, Deyle DR, Cool SM, Rubin J, van Wijnen AJ. Validation of Osteogenic Properties of Cytochalasin D by High-Resolution RNA-Sequencing in Mesenchymal Stem Cells Derived from Bone Marrow and Adipose Tissues. Stem Cells Dev. 2018 Aug 15; 27 (16):1136-1145 Epub 2018 July 23 View PubMed Helder MRK, Schaff HV, Foley TA, Anavekar NS, Deyle DR, Pochettino A, Connolly HM. Aortic Root Dilation: Do Patients With Marfan Syndrome Fare Worse Than Those With Marfanoid Features? Mayo Clin Proc. 2018 Feb; 93 (2):179-183 Epub 2018 Jan 05 View PubMed Conboy E, Vairo F, Schultz M, Agre K, Ridsdale R, Deyle D, Oglesbee D, Gavrilov D, Klee EW, Lanpher B. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features. JIMD Rep. 2018; 40:63-69 Epub 2017 Oct 14 View PubMed Cousin MA, Zimmermann MT, Mathison AJ, Blackburn PR, Boczek NJ, Oliver GR, Lomberk GA, Urrutia RA, Deyle DR, Klee EW. Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys-Dietz syndrome (LDS) impairs canonical TGF-beta signaling. Cold Spring Harb Mol Case Stud. 2017 Jul; 3 (4) Epub 2017 July 05 View PubMed Khani F, Thaler R, Paradise CR, Deyle DR, Kruijthof-de Julio M, Galindo M, Gordon JA, Stein GS, Dudakovic A, van Wijnen AJ. Histone H4 Methyltransferase Suv420h2 Maintains Fidelity of Osteoblast Differentiation. J Cell Biochem. 2017 May; 118 (5):1262-1272 Epub 2016 Nov 30 View PubMed Riester SM, Torres-Mora J, Dudakovic A, Camilleri ET, Wang W, Xu F, Thaler RR, Evans JM, Zwartbol R, Briaire-de Bruijn IH, Maran A, Folpe AL, Inwards CY, Rose PS, Shives TC, Yaszemski MJ, Sim FH, Deyle DR, Larson AN, Galindo MA, Cleven AGH, Oliveira AM, Cleton-Jansen AM, Bovee JVMG, van Wijnen AJ. Hypoxia-related microRNA-210 is a diagnostic marker for discriminating osteoblastoma and osteosarcoma. J Orthop Res. 2017 May; 35 (5):1137-1146 Epub 2016 June 28 View PubMed Dudakovic A, Gluscevic M, Paradise CR, Dudakovic H, Khani F, Thaler R, Ahmed FS, Li X, Dietz AB, Stein GS, Montecino MA, Deyle DR, Westendorf JJ, van Wijnen AJ. Profiling of human epigenetic regulators using a semi-automated real-time qPCR platform validated by next generation sequencing. Gene. 2017 Apr 20; 609:28-37. Epub 2017 Jan 27. View PubMed Henkin S, Negrotto SM, Tweet MS, Kirmani S, Deyle DR, Gulati R, Olson TM, Hayes SN. Spontaneous coronary artery dissection and its association with heritable connective tissue disorders. Heart. 2016 Jun 1; 102 (11):876-81 Epub 2016 Feb 10 View PubMed Lazaridis KN, Schahl KA, Cousin MA, Babovic-Vuksanovic D, Riegert-Johnson DL, Gavrilova RH, McAllister TM, Lindor NM, Abraham RS, Ackerman MJ, Pichurin PN, Deyle DR, Gavrilov DK, Hand JL, Klee EW, Stephens MC, Wick MJ, Atkinson EJ, Linden DR, Ferber MJ, Wieben ED, Farrugia G, Individualized Medicine Clinic Members. Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience. Mayo Clin Proc. 2016 Mar; 91(3):297-307. View PubMed Dudakovic A, Camilleri ET, Xu F, Riester SM, McGee-Lawrence ME, Bradley EW, Paradise CR, Lewallen EA, Thaler R, Deyle DR, Larson AN, Lewallen DG, Dietz AB, Stein GS, Montecino MA, Westendorf JJ, van Wijnen AJ. Epigenetic Control of Skeletal Development by the Histone Methyltransferase Ezh2. J Biol Chem. 2015 Nov 13; 290 (46):27604-17 Epub 2015 Sept 30 View PubMed Nelson AD, Mouchli MA, Valentin N, Deyle D, Pichurin P, Acosta A, Camilleri M. Ehlers Danlos syndrome and gastrointestinal manifestations: a 20-year experience at Mayo Clinic. Neurogastroenterol Motil. 2015 Nov; 27 (11):1657-66 Epub 2015 Sept 16 View PubMed Deyle DR, Escobar DZ, Peng KW, Babovic-Vuksanovic D. Oncolytic measles virus as a novel therapy for malignant peripheral nerve sheath tumors. Gene. 2015 Jul 1; 565 (1):140-5 Epub 2015 Apr 02 View PubMed Deyle DR. Generation of induced pluripotent stem cells. Methods Mol Biol. 2015; 1226:43-58. View PubMed Deyle DR, Hansen RS, Cornea AM, Li LB, Burt AA, Alexander IE, Sandstrom RS, Stamatoyannopoulos JA, Wei CL, Russell DW. A genome-wide map of adeno-associated virus-mediated human gene targeting. Nat Struct Mol Biol. 2014 Nov; 21(11):969-75. Epub 2014 Oct 05. View PubMed Dudakovic A, Camilleri E, Riester SM, Lewallen EA, Kvasha S, Chen X, Radel DJ, Anderson JM, Nair AA, Evans JM, Krych AJ, Smith J, Deyle DR, Stein JL, Stein GS, Im HJ, Cool SM, Westendorf JJ, Kakar S, Dietz AB, van Wijnen AJ. High-resolution molecular validation of self-renewal and spontaneous differentiation in clinical-grade adipose-tissue derived human mesenchymal stem cells. J Cell Biochem. 2014 Oct; 115 (10):1816-28 View PubMed Deyle DR, Li LB, Ren G, Russell DW. The effects of polymorphisms on human gene targeting. Nucleic Acids Res. 2014; 42(5):3119-24. View PubMed Deyle DR, Westendorf JJ. WNT1 for the Skeleton. IMBS BoneKEy. 2013 Nov; 10. Deyle DR, Khan IF, Ren G, Wang PR, Kho J, Schwarze U, Russell DW. Normal collagen and bone production by gene-targeted human osteogenesis imperfecta iPSCs. Mol Ther. 2012 Jan; 20(1):204-13. Epub 2011 Oct 25. View PubMed Deyle DR, Li Y, Olson EM, Russell DW. Nonintegrating foamy virus vectors. J Virol. 2010 Sep; 84(18):9341-9. Epub 2010 Jun 30. View PubMed Deyle DR, Russell DW. Adeno-associated virus vector integration. Curr Opin Mol Ther. 2009 Aug; 11(4):442-7. View PubMed Chamberlain JR, Deyle DR, Schwarze U, Wang P, Hirata RK, Li Y, Byers PH, Russell DW. Gene targeting of mutant COL1A2 alleles in mesenchymal stem cells from individuals with osteogenesis imperfecta. Mol Ther. 2008 Jan; 16(1):187-93. Epub 2007 Oct 23 View PubMed Dylla SJ, Deyle DR, Theunissen K, Padurean AM, Verfaillie CM. Integrin engagement-induced inhibition of human myelopoiesis is mediated by proline-rich tyrosine kinase 2 gene products. Exp Hematol. 2004 Apr; 32(4):365-74. View PubMed PST-20227144 Home Publications