Publications Print Klatte DCF, Starr JS, Clift KE, Hardway HD, van Hooft JE, van Leerdam ME, Potjer TP, Presutti RJ, Riegert-Johnson DL, Wallace MB, Bi Y. Utilization and Outcomes of Multigene Panel Testing in Patients With Pancreatic Ductal Adenocarcinoma. JCO Oncol Pract. 2024 Aug; 20 (8):1081-1090 Epub 2024 Apr 15 View PubMed Macklin-Mantia SK, Clift KE, Maimone S, Hodge DO, Riegert-Johnson D, Hines SL. Patient uptake of updated genetic testing following uninformative BRCA1 and BRCA2 results. J Genet Couns. 2023 Jun; 32 (3):598-606 Epub 2022 Dec 07 View PubMed Roht L, Hyldebrandt HK, Stormorken AT, Nordgarden H, Sijmons RH, Bos DK, Riegert-Johnson D, Mantia-Macklin S, Ilves P, Muru K, Wojcik MH, Kahre T, Ounap K. AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature. Mol Genet Genomic Med. 2023 Jun; 11 (6):e2157 Epub 2023 Mar 01 View PubMed Golan T, Casolino R, Biankin AV, Hammel P, Whitaker KD, Hall MJ, Riegert-Johnson DL. Germline BRCA testing in pancreatic cancer: improving awareness, timing, turnaround, and uptake. Ther Adv Med Oncol. 2023; 15:17588359231189127 Epub 2023 Sept 15 View PubMed Sawhney MS, Calderwood AH, Thosani NC, Rebbeck TR, Wani S, Canto MI, Fishman DS, Golan T, Hidalgo M, Kwon RS, Riegert-Johnson DL, Sahani DV, Stoffel EM, Vollmer CM Jr, Qumseya BJ, Prepared by: ASGE STANDARDS OF PRACTICE COMMITTEE. ASGE guideline on screening for pancreatic cancer in individuals with genetic susceptibility: summary and recommendations. Gastrointest Endosc. 2022 May; 95 (5):817-826 Epub 2022 Feb 16 View PubMed Calderwood AH, Sawhney MS, Thosani NC, Rebbeck TR, Wani S, Canto MI, Fishman DS, Golan T, Hidalgo M, Kwon RS, Riegert-Johnson DL, Sahani DV, Stoffel EM, Vollmer CM Jr, Al-Haddad MA, Amateau SK, Buxbaum JL, DiMaio CJ, Fujii-Lau LL, Jamil LH, Jue TL, Law JK, Lee JK, Naveed M, Pawa S, Storm AC, Qumseya BJ. American Society for Gastrointestinal Endoscopy guideline on screening for pancreatic cancer in individuals with genetic susceptibility: methodology and review of evidence. Gastrointest Endosc. 2022 May; 95 (5):827-854.e3 Epub 2022 Feb 16 View PubMed Uson PLS Jr, Riegert-Johnson D, Boardman L, Kisiel J, Mountjoy L, Patel N, Lizaola-Mayo B, Borad MJ, Ahn D, Sonbol MB, Jones J, Leighton JA, Gurudu S, Singh H, Klint M, Kunze KL, Golafshar MA, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab TS, Jewel Samadder N. Germline Cancer Susceptibility Gene Testing in Unselected Patients With Colorectal Adenocarcinoma: A Multicenter Prospective Study. Clin Gastroenterol Hepatol. 2022 Mar; 20 (3):e508-e528 Epub 2021 Apr 20 View PubMed Uson Junior PL, Kunze KL, Golafshar MA, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Faigel DO, Fukami N, Pannala R, Barrus K, Mountjoy L, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T, Samadder NJ. Germline Cancer Susceptibility Gene Testing in Unselected Patients with Hepatobiliary Cancers: A Multi-Center Prospective Study. Cancer Prev Res (Phila). 2022 Feb; 15 (2):121-128 Epub 2021 Nov 15 View PubMed Uson PLS Jr, Samadder NJ, Riegert-Johnson D, Boardman L, Borad MJ, Ahn D, Sonbol MB, Faigel DO, Fukami N, Pannala R, Kunze K, Golafshar M, Klint M, Esplin ED, Nussbaum RL, Stewart AK, Bekaii-Saab T. Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study. Clin Transl Gastroenterol. 2021 Oct 8; 12 (10):e00414 Epub 2021 Oct 08 View PubMed Samadder NJ, Riegert-Johnson D, Boardman L, Rhodes D, Wick M, Okuno S, Kunze KL, Golafshar M, Uson PLS Jr, Mountjoy L, Ertz-Archambault N, Patel N, Rodriguez EA, Lizaola-Mayo B, Lehrer M, Thorpe CS, Yu NY, Esplin ED, Nussbaum RL, Sharp RR, Azevedo C, Klint M, Hager M, Macklin-Mantia S, Bryce AH, Bekaii-Saab TS, Sekulic A, Stewart AK. Comparison of Universal Genetic Testing vs Guideline-Directed Targeted Testing for Patients With Hereditary Cancer Syndrome. JAMA Oncol. 2021 Feb 1; 7 (2):230-237 View PubMed Macklin-Mantia SK, Hines SL, Chaichana KL, Donaldson AM, Ko SL, Zhai Q, Samadder NJ, Riegert-Johnson DL. Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma. BMC Med Genet. 2020 Aug 17; 21 (1):161 View PubMed Macklin-Mantia SK, Riegert-Johnson DL. An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant. Hered Cancer Clin Pract. 2020; 18:14 Epub 2020 July 30 View PubMed Samadder NJ, Giridhar KV, Baffy N, Riegert-Johnson D, Couch FJ. Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes. Mayo Clin Proc. 2019 Jun; 94 (6):1084-1098 View PubMed Samadder NJ, Baffy N, Giridhar KV, Couch FJ, Riegert-Johnson D. Hereditary Cancer Syndromes-A Primer on Diagnosis and Management, Part 2: Gastrointestinal Cancer Syndromes. Mayo Clin Proc. 2019 Jun; 94 (6):1099-1116 View PubMed Aslam N, Singh A, Cortese C, Riegert-Johnson DL. A novel variant in FN1 in a family with fibronectin glomerulopathy. Hum Genome Var. 2019; 6:11 Epub 2019 Feb 27 View PubMed Corral JE, Mareth KF, Riegert-Johnson DL, Das A, Wallace MB. Diagnostic Yield From Screening Asymptomatic Individuals at High Risk for Pancreatic Cancer: A Meta-analysis of Cohort Studies. Clin Gastroenterol Hepatol. 2019 Jan; 17 (1):41-53 Epub 2018 June 30 View PubMed Corral JE, Mousa OY, Riegert-Johnson DL. Massive gastrointestinal bleeding after transjugular intrahepatic portosystemic shunt (TIPS). Gut. 2018 Jun; 67 (6):1123 Epub 2017 July 07 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 Aronson M, Gallinger S, Cohen Z, Cohen S, Dvir R, Elhasid R, Baris HN, Kariv R, Druker H, Chan H, Ling SC, Kortan P, Holter S, Semotiuk K, Malkin D, Farah R, Sayad A, Heald B, Kalady MF, Penney LS, Rideout AL, Rashid M, Hasadsri L, Pichurin P, Riegert-Johnson D, Campbell B, Bakry D, Al-Rimawi H, Alharbi QK, Alharbi M, Shamvil A, Tabori U, Durno C. Gastrointestinal Findings in the Largest Series of Patients With Hereditary Biallelic Mismatch Repair Deficiency Syndrome: Report from the International Consortium. Am J Gastroenterol. 2016 Feb; 111 (2):275-84 Epub 2016 Jan 05 View PubMed Cannon A, Kurklinsky S, Guthrie KJ, Riegert-Johnson DL. Advanced Genetic Testing Comes to the Pain Clinic to Make a Diagnosis of Paroxysmal Extreme Pain Disorder. Case Rep Neurol Med. 2016; 2016:9212369 Epub 2016 July 21 View PubMed Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM. PMS2 monoallelic mutation carriers: the known unknown. Genet Med. 2016 Jan; 18 (1):13-9 Epub 2015 Apr 09 View PubMed Lindor NM, Schahl KA, Johnson KJ, Hunt KS, Mensink KA, Wieben ED, Klee E, Black JL, Highsmith WE Jr, Thibodeau SN, Ferber MJ, Aypar U, Ji Y, Graham RP, Fiksdal AS, Sarangi V, Ormond KE, Riegert-Johnson DL, McAllister TM, Farrugia G, McCormick JB. Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes. Mayo Clin Proc. 2015 Oct; 90 (10):1327-37 View PubMed Tacik P, Guthrie KJ, Strongosky AJ, Broderick DF, Riegert-Johnson DL, Tang S, El-Khechen D, Parker AS, Ross OA, Wszolek ZK. Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1. Mayo Clin Proc. 2015 Mar; 90 (3):366-71 Epub 2015 Feb 03 View PubMed Noriega-Iriondo MF, Colon-Otero G, Kipp BR, Copland JA, Ferber MJ, Marlow LA, Roberts ME, Robertson MW, Dinh TA, Attia S, Geiger XJ, Riegert-Johnson DL. High-grade endometrial stromal sarcoma as the initial presentation of an adult patient with Peutz-Jeghers Syndrome: a case report. Hered Cancer Clin Pract. 2015; 13 (1):6 Epub 2015 Jan 23 View PubMed Wallace MB, Crook JE, Coe S, Ussui V, Staggs E, Almansa C, Patel MK, Bouras E, Cangemi J, Keaveny A, Picco M, Riegert-Johnson D. Accuracy of in vivo colorectal polyp discrimination by using dual-focus high-definition narrow-band imaging colonoscopy. Gastrointest Endosc. 2014 Dec; 80 (6):1072-87 Epub 2014 June 25 View PubMed Roberts ME, Riegert-Johnson DL, Thomas BC, Rumilla KM, Thomas CS, Heckman MG, Purcell JU, Hanson NB, Leppig KA, Lim J, Cappel MA. A clinical scoring system to identify patients with sebaceous neoplasms at risk for the Muir-Torre variant of Lynch syndrome. Genet Med. 2014 Sep; 16 (9):711-6 Epub 2014 Mar 06 View PubMed Wain KE, Ellingson MS, McDonald J, Gammon A, Roberts M, Pichurin P, Winship I, Riegert-Johnson DL, Weitzel JN, Lindor NM. Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review. Genet Med. 2014 Aug; 16 (8):588-93 Epub 2014 Feb 13 View PubMed Boardman LA, Litzelman K, Seo S, Johnson RA, Vanderboom RJ, Kimmel GW, Cunningham JM, Gangnon RE, Engelman CD, Riegert-Johnson DL, Potter J, Haile R, Buchanan D, Jenkins MA, Rider DN, Thibodeau SN, Petersen GM, Skinner HG. The association of telomere length with colorectal cancer differs by the age of cancer onset. Clin Transl Gastroenterol. 2014 Mar 6; 5:e52 Epub 2014 Mar 06 View PubMed Lazaridis KN, McAllister TM, Babovic-Vuksanovic D, Beck SA, Borad MJ, Bryce AH, Chanan-Khan AA, Ferber MJ, Fonseca R, Johnson KJ, Klee EW, Lindor NM, McCormick JB, McWilliams RR, Parker AS, Riegert-Johnson DL, Rohrer Vitek CR, Schahl KA, Schultz C, Stewart K, Then GC, Wieben ED, Farrugia G. Implementing individualized medicine into the medical practice. Am J Med Genet C Semin Med Genet. 2014 Mar; 166C(1):15-23. Epub 2014 Mar 10. View PubMed Qumseya BJ, Tayem YI, Dasa OY, Nahhal KW, Abu-Limon IM, Hmidat AM, Al-Shareif AF, Hamadneh MK, Riegert-Johnson DL, Wallace MB. Barriers to colorectal cancer screening in Palestine: a national study in a medically underserved population. Clin Gastroenterol Hepatol. 2014 Mar; 12 (3):463-9 Epub 2013 Sept 19 View PubMed Ngamruengphong S, Boardman LA, Heigh RI, Krishna M, Roberts ME, Riegert-Johnson DL. Gastric adenomas in familial adenomatous polyposis are common, but subtle, and have a benign course. Hered Cancer Clin Pract. 2014 Feb 24; 12 (1):4 View PubMed Cunningham JM, Johnson RA, Litzelman K, Skinner HG, Seo S, Engelman CD, Vanderboom RJ, Kimmel GW, Gangnon RE, Riegert-Johnson DL, Baron JA, Potter JD, Haile R, Buchanan DD, Jenkins MA, Rider DN, Thibodeau SN, Petersen GM, Boardman LA. Telomere length varies by DNA extraction method: implications for epidemiologic research. Cancer Epidemiol Biomarkers Prev. 2013 Nov; 22 (11):2047-54 Epub 2013 Sept 09 View PubMed Roberts ME, Riegert-Johnson DL, Thomas BC, Thomas CS, Heckman MG, Krishna M, DiCaudo DJ, Bridges AG, Hunt KS, Rumilla KM, Cappel MA. Screening for Muir-Torre syndrome using mismatch repair protein immunohistochemistry of sebaceous neoplasms. J Genet Couns. 2013 Jun; 22 (3):393-405 Epub 2012 Dec 06 View PubMed Boardman LA, Johnson RA, Viker KB, Hafner KA, Jenkins RB, Riegert-Johnson DL, Smyrk TC, Litzelman K, Seo S, Gangnon RE, Engelman CD, Rider DN, Vanderboom RJ, Thibodeau SN, Petersen GM, Skinner HG. Correlation of chromosomal instability, telomere length and telomere maintenance in microsatellite stable rectal cancer: a molecular subclass of rectal cancer. PLoS One. 2013; 8 (11):e80015 Epub 2013 Nov 21 View PubMed Riegert-Johnson DL, Boardman LA, Crook JE, Thomas CS, Johnson RA, Roberts ME. Shorter peripheral blood telomeres are a potential biomarker for patients with advanced colorectal adenomas. Int J Biol Markers. 2012 Dec 27; 27 (4):e375-80 View PubMed Lenehan PF, Boardman LA, Riegert-Johnson D, De Petris, Fry DW, Ohrnberger J, Heyman ER, Gerard B, Almal AA, Worzel WP. Generation and external validation of a tumor-derived 5-gene prognostic signature for recurrence of lymph node-negative, invasive colorectal carcinoma. Cancer. 2012 Nov 1; 118(21):5234-44. Epub 2012 May 17. View PubMed Stauffer JA, Adkisson CD, Riegert-Johnson DL, Goldberg RF, Bowers SP, Asbun HJ. Pancreas-sparing total duodenectomy for ampullary duodenal neoplasms. World J Surg. 2012 Oct; 36 (10):2461-72 View PubMed Adkisson CD, Stauffer JA, Bowers SP, Raimondo M, Wallace MB, Riegert-Johnson DL, Asbun HJ. What extent of pancreatic resection do patients with MEN-1 require? JOP. 2012 Jul 10; 13 (4):402-8 Epub 2012 July 10 View PubMed Lynch HT, Riegert-Johnson DL, Snyder C, Lynch JF, Hagenkord J, Boland CR, Rhees J, Thibodeau SN, Boardman LA, Davies J, Kuiper RP, Hoogerbrugge N, Ligtenberg MJ. Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. Am J Gastroenterol. 2011 Oct; 106(10):1829-36. Epub 2011 Jul 19. View PubMed Riegert-Johnson D, Roberts M, Gleeson FC, Krishna M, Boardman L. Case studies in the diagnosis and management of Peutz-Jeghers syndrome. Fam Cancer. 2011 Sep; 10 (3):463-8 View PubMed Roberts ME, Riegert-Johnson DL, Thomas BC. Self diagnosis of Lynch syndrome using direct to consumer genetic testing: a case study. J Genet Couns. 2011 Aug; 20 (4):327-9 Epub 2011 Mar 30 View PubMed Masciari S, Dewanwala A, Stoffel EM, Lauwers GY, Zheng H, Achatz MI, Riegert-Johnson D, Foretova L, Silva EM, Digianni L, Verselis SJ, Schneider K, Li FP, Fraumeni J, Garber JE, Syngal S. Gastric cancer in individuals with Li-Fraumeni syndrome. Genet Med. 2011 Jul; 13(7):651-7. View PubMed Buchner AM, Gomez V, Heckman MG, Shahid MW, Achem S, Gill KR, Jamil LH, Kahaleh M, Lo SK, Picco M, Riegert-Johnson D, Raimondo M, Sciemeca D, Wolfsen H, Woodward T, Wallace MB. The learning curve of in vivo probe-based confocal laser endomicroscopy for prediction of colorectal neoplasia. Gastrointest Endosc. 2011 Mar; 73 (3):556-60 View PubMed You YN, Wolff BG, Boardman LA, Riegert-Johnson DL, Qin R. Peutz-Jeghers syndrome: a study of long-term surgical morbidity and causes of mortality. Fam Cancer. 2010 Dec; 9 (4):609-16 View PubMed Riegert-Johnson DL, Gleeson FC, Roberts M, Tholen K, Youngborg L, Bullock M, Boardman LA. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract. 2010 Jun 17; 8 (1):6 Epub 2010 June 17 View PubMed Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC. Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. Science Translational Medicine. 2010 Mar 17; 2(23). Kanehira K, Riegert-Johnson DL, Chen D, Gibson LE, Grinnell SD, Velgaleti GV. FISH diagnosis of acute graft-versus-host disease following living-related liver transplant. J Mol Diagn. 2009 Jul; 11 (4):355-8 Epub 2009 May 21 View PubMed Gleeson FC, Papachristou GI, Riegert-Johnson DL, Boller AM, Gostout CJ. Progression to advanced neoplasia is infrequent in post colectomy familial adenomatous polyposis patients under endoscopic surveillance. Fam Cancer. 2009; 8 (1):33-8 Epub 2008 July 23 View PubMed Riegert-Johnson DL, Macaya D, Hefferon TW, Boardman LA. The incidence of duplicate genetic testing. Genet Med. 2008 Feb; 10 (2):114-6 View PubMed Riegert-Johnson DL, Macaya D, Hefferon TW, Boardman LA. Medical errors related to inappropriate genetic testing in liver transplant patients. Genet Test. 2007 Winter; 11(4):451-3. View PubMed Riegert-Johnson DL, Johnson RA, Rabe KG, Wang L, Thomas B, Baudhuin LM, Thibodeau SN, Boardman LA. The value of MUTYH testing in patients with early onset microsatellite stable colorectal cancer referred for hereditary nonpolyposis colon cancer syndrome testing. Genet Test. 2007 Winter; 11(4):361-5. View PubMed Riegert-Johnson DL, Macays D, Hefferon TW, Boardman LA. Medical errors related to genetic testing in liver transplant patients. Genet Test. 2007; 2007:11. Hur DJ, Raymond GV, Kahler SG, Riegert-Johnson DL, Cohen BA, Boyadjiev SA. A novel MGP mutation in a consanguineous family: review of the clinical and molecular characteristics of Keutel syndrome. Am J Med Genet A. 2005 May 15; 135 (1):36-40 View PubMed Riegert-Johnson DL, Bruce CJ, Montori VM, Cook RJ, Spittell PC. Residents can be trained to detect abdominal aortic aneurysms using personal ultrasound imagers: a pilot study. J Am Soc Echocardiogr. 2005 May; 18(5):394-7. View PubMed Stroebel RJ, Gloor B, Freytag S, Riegert-Johnson D, Smith SA, Huschka T, Naessens J, Naessens J, Kottke TE. Adapting the chronic care model to treat chronic illness at a free medical clinic. J Health Care Poor Underserved. 2005 May; 16 (2):286-96 View PubMed Riegert-Johnson DL, Korf BR, Alford RL, Broder MI, Keats BJ, Ormond KE, Pyeritz RE, Watson MS. Outline of a medical genetics curriculum for internal medicine residency training programs. Genet Med. 2004 Nov-Dec; 6(6):543-7. View PubMed Yu AC, Riegert-Johnson DL. A case of acute pancreatitis presenting with electrocardiographic signs of acute myocardial infarction. Pancreatology. 2003; 3(6):515-7. Epub 2004 Jan 15. View PubMed Riegert-Johnson DL, Volcheck GW. The incidence of anaphylaxis following intravenous phytonadione (vitamin K1): a 5-year retrospective review. Ann Allergy Asthma Immunol. 2002 Oct; 89(4):400-6. View PubMed Riegert-Johnson DL, Godfrey JA, Myers JL, Hubmayr RD, Sandborn WJ, Loftus EV Jr. Delayed hypersensitivity reaction and acute respiratory distress syndrome following infliximab infusion. Inflamm Bowel Dis. 2002 May; 8 (3):186-91 View PubMed Riegert-Johnson DL, Volcheck GW. Anaphylaxis following intravenous phytonadione: A five-year retrospective review. Ann Allergy Asthna Immunol. 2002; 89:400-406. Riegert-Johnson DL, Kaur JS, Pfeifer EA. Calciphylaxis associated with cholangiocarcinoma treated with low-molecular-weight heparin and vitamin K. Mayo Clin Proc. 2001 Jul; 76(7):749-52. View PubMed PST-20225093 Home Publications