Publications

  1. Mao R, Krautscheid P, Graham RP, Ganguly A, Shankar S, Ferber M, Hegde M, ACMG Laboratory Quality Assurance Committee. Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct; 23 (10):1807-1817 Epub 2021 June 17
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  2. Lincoln SE, Hambuch T, Zook JM, Bristow SL, Hatchell K, Truty R, Kennemer M, Shirts BH, Fellowes A, Chowdhury S, Klee EW, Mahamdallie S, Cleveland MH, Vallone PM, Ding Y, Seal S, DeSilva W, Tomson FL, Huang C, Garlick RK, Rahman N, Salit M, Kingsmore SF, Ferber MJ, Aradhya S, Nussbaum RL. One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation. Genet Med. 2021 Sep; 23 (9):1673-1680 Epub 2021 May 18
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  3. Ernst ME, Baugh EH, Thomas A, Bier L, Lippa N, Stong N, Mulhern MS, Kushary S, Akman CI, Heinzen EL, Yeh R, Bi W, Hanchard NA, Burrage LC, Leduc MS, Chong JSC, Bend R, Lyons MJ, Lee JA, Suwannarat P, Brilstra E, Simon M, Koopmans M, van Binsbergen E, Groepper D, Fleischer J, Nava C, Keren B, Mignot C, Mathieu S, Mancini GMS, Madan-Khetarpal S, Infante EM, Bluvstein J, Seeley A, Bachman K, Klee EW, Schultz-Rogers LE, Hasadsri L, Barnett S, Ellingson MS, Ferber MJ, Narayanan V, Ramsey K, Rauch A, Joset P, Steindl K, Sheehan T, Poduri A, Vasquez A, Ruivenkamp C, White SM, Pais L, Monaghan KG, Goldstein DB, Sands TT, Aggarwal V. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. Epilepsia. 2021 Jul; 62 (7):e103-e109 Epub 2021 May 26
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  4. 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
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  5. Grzymski JJ, Elhanan G, Morales Rosado JA, Smith E, Schlauch KA, Read R, Rowan C, Slotnick N, Dabe S, Metcalf WJ, Lipp B, Reed H, Sharma L, Levin E, Kao J, Rashkin M, Bowes J, Dunaway K, Slonim A, Washington N, Ferber M, Bolze A, Lu JT. Population genetic screening efficiently identifies carriers of autosomal dominant diseases. Nat Med. 2020 Aug; 26 (8):1235-1239 Epub 2020 July 27
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  6. Hagenkord J, Funke B, Qian E, Hegde M, Jacobs KB, Ferber M, Lebo M, Buchanan A, Bick D. Design and Reporting Considerations for Genetic Screening Tests. J Mol Diagn. 2020 May; 22 (5):599-609 Epub 2020 Feb 22
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  7. Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Ounap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietilainen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E, Sticht H, Gregor A, Van Esch H, Zweier C, DDD Study. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019 Dec; 21 (12):2723-2733 Epub 2019 June 26
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  8. Seifert BA, McGlaughon JL, Jackson SA, Ritter DI, Roberts ME, Schmidt RJ, Thompson BA, Jimenez S, Trapp M, Lee K, Plon SE, Offit K, Stadler ZK, Zhang L, Greenblatt MS, Ferber MJ. Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework. Genet Med. 2019 Jul; 21 (7):1507-1516 Epub 2018 Dec 07
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  9. Oliver GR, Blackburn PR, Ellingson MS, Conboy E, Pinto E Vairo F, Webley M, Thorland E, Ferber M, Van Hul E, van der Werf IM, Wuyts W, Babovic-Vuksanovic D, Klee EW. RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas. Mol Genet Genomic Med. 2019 Mar; 7 (3):e00560 Epub 2019 Jan 10
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  10. Lu JT, Ferber M, Hagenkord J, Levin E, South S, Kang HP, Strong KA, Bick DP. Evaluation for Genetic Disorders in the Absence of a Clinical Indication for Testing: Elective Genomic Testing. J Mol Diagn. 2019 Jan; 21 (1):3-12 Epub 2018 Nov 17
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  11. Boczek NJ, Lahner CA, Nguyen TM, Ferber MJ, Hasadsri L, Thorland EC, Niu Z, Gavrilova RH. Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2). Am J Med Genet A. 2018 Dec; 176 (12):2798-2802 Epub 2018 Oct 22
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  12. Allyse MA, Robinson DH, Ferber MJ, Sharp RR. Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing. Mayo Clin Proc. 2018 Jan; 93 (1):113-120
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  13. Kaiwar C, Zimmermann MT, Ferber MJ, Niu Z, Urrutia RA, Klee EW, Babovic-Vuksanovic D. Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome. Cold Spring Harb Mol Case Stud. 2017 Nov; 3 (6) Epub 2017 Nov 21
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  14. DeRycke MS, Gunawardena S, Balcom JR, Pickart AM, Waltman LA, French AJ, McDonnell S, Riska SM, Fogarty ZC, Larson MC, Middha S, Eckloff BW, Asmann YW, Ferber MJ, Haile RW, Gallinger S, Clendenning M, Rosty C, Win AK, Buchanan DD, Hopper JL, Newcomb PA, Le Marchand L, Goode EL, Lindor NM, Thibodeau SN. Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. Mol Genet Genomic Med. 2017 Sep; 5(5):553-569. Epub 2017 Jul 23.
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  15. Blackburn PR, Barnett SS, Zimmermann MT, Cousin MA, Kaiwar C, Pinto E Vairo F, Niu Z, Ferber MJ, Urrutia RA, Selcen D, Klee EW, Pichurin PN. Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. Cold Spring Harb Mol Case Stud. 2017 May; 3 (3):a001743
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  16. Baudhuin LM, Ferber MJ. Miniaturized Nanopore DNA Sequencing: Accelerating the Path to Precision Medicine. Clin Chem 2017 Mar; 63 (3):632-634 Epub 2017 Jan 11
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  17. Ferber MJ, Peterson LM, Blommel JH, Fadra NM, Thomas BC, Baudhuin LM, Klee EW. Clinical Validation of a Next Generation Sequencing Panel Test for Hereditary Colorectal Cancer J Med Diagn Meth.2016;5:(2)
  18. Ji Y, Skierka JM, Blommel JH, Moore BE, VanCuyk DL, Bruflat JK, Peterson LM, Veldhuizen TL, Fadra N, Peterson SE, Lagerstedt SA, Train LJ, Baudhuin LM, Klee EW, Ferber MJ, Bielinski SJ, Caraballo PJ, Weinshilboum RM, Black JL 3rd. Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade. J Mol Diagn. 2016 May; 18 (3):438-445 Epub 2016 Mar 03
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  19. 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.
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  20. Zhu Q, Liu H, Chute CG, Ferber M. EHR based Genetic Testing Knowledge Base (iGTKB) Development. BMC Med Inform Decis Mak. 2015 Nov 25; 15(Suppl 4):S3.
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  21. 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
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  22. Baudhuin LM, Lagerstedt SA, Klee EW, Fadra N, Oglesbee D, Ferber MJ. Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing. J Mol Diagn. 2015 Jul; 17 (4):456-61 Epub 2015 May 08
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  23. 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
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  24. Dhamija R, Kirmani S, Wang X, Ferber MJ, Wieben ED, Lazaridis KN, Babovic-Vuksanovic D. Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism. Am J Med Genet A. 2014 Sep; 164A (9):2356-9 Epub 2014 May 28
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  25. McCormick JB, Sharp RR, Farrugia G, Lindor NM, Babovic-Vuksanovic D, Borad MJ, Bryce AH, Caselli RJ, Ferber MJ, Johnson KJ, Lazaridis KN, McWilliams RR, Murray JA, Parker AS, Schahl KA, Wieben ED. Genomic medicine and incidental findings: balancing actionability and patient autonomy. Mayo Clin Proc 2014 Jun; 89 (6):718-21
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  26. 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.
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  27. Zhu Q, Liu H, Chute CG, Ferber M. Genetic testing knowledge base (GTKB) towards individualized genetic test recommendation - An experimental study. Proceedings - 2014 IEEE International Conference on Bioinformatics and Biomedicine, IEEE BIBM 2014. 2014:574-7.
  28. Hegde M, Ferber M, Mao R, Samowitz W, Ganguly A, Working Group of the American College of Medical Genetics and Genomics (ACMG) Laboratory Quality Assurance Committee. ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). Genet Med. 2014 Jan; 16 (1):101-16 Epub 2013 Dec 05
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  29. Bielinski SJ, Olson JE, Pathak J, Weinshilboum RM, Wang L, Lyke KJ, Ryu E, Targonski PV, Van Norstrand MD, Hathcock MA, Takahashi PY, McCormick JB, Johnson KJ, Maschke KJ, Rohrer Vitek CR, Ellingson MS, Wieben ED, Farrugia G, Morrisette JA, Kruckeberg KJ, Bruflat JK, Peterson LM, Blommel JH, Skierka JM, Ferber MJ, Black JL, Baudhuin LM, Klee EW, Ross JL, Veldhuizen TL, Schultz CG, Caraballo PJ, Freimuth RR, Chute CG, Kullo IJ. Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol. Mayo Clin Proc. 2014 Jan; 89 (1):25-33
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  30. Reddi HV, Thomas BC, Willkomm KS, Ferber MJ, Rumilla KM, Raymond KM, O'Brien JF, Highsmith WE. Discordant results between biochemical and molecular transthyretin assays: lessons learned from a unique testing algorithm at the Mayo Clinic. J Genet. 2013 Dec; 92 (3):599-604
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  31. Wang H, Molina J, Jiang J, Ferber M, Pruthi S, Jatkoe T, Derecho C, Rajpurohit Y, Zheng J, Wang Y. Gene expression markers in circulating tumor cells may predict bone metastasis and response to hormonal treatment in breast cancer. Mol Clin Oncol. 2013 Nov; 1 (6):1031-1038 Epub 2013 Aug 02
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  32. Kerr SE, Thomas CB, Thibodeau SN, Ferber MJ, Halling KC. APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests. J Mol Diagn. 2013 Jan; 15(1):31-43. Epub 2012 Nov 14.
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  33. Klee EW, Hoppman-Chaney NL, Ferber MJ. Expanding DNA diagnostic panel testing: is more better? Expert Rev Mol Diagn. 2011 Sep; 11(7):703-9.
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  34. Hoppman-Chaney N, Peterson LM, Klee EW, Middha S, Courteau LK, Ferber MJ. Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics. Clin Chem. 2010 Aug; 56 (8):1297-306 Epub 2010 June 18
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  35. Kegley KM, Sellers MA, Ferber MJ, Johnson MW, Joelson DW, Shrestha R. Fulminant Wilson's disease requiring liver transplantation in one monozygotic twin despite identical genetic mutation. Am J Transplant. 2010 May; 10(5):1325-9. Epub 2010 Mar 19.
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  36. Mensink K, Ferber M. Genetic tests physicians should know. Minn Med. 2007 May; 90(5):33-5.
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  37. Kitzmann AS, Pulido JS, Ferber MJ, Highsmith WE, Babovic-Vuksanovic D. A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma. Ophthalmic Genet. 2006 Dec; 27 (4):157-9
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  38. Kroll CA, Ferber MJ, Dawson BD, Jacobson RM, Mensink KA, Lorey F, Sherwin J, Cunningham G, Rinaldo P, Matern D, Hahn SH. Retrospective determination of ceruloplasmin in newborn screening blood spots of patients with Wilson disease. Mol Genet Metab. 2006 Sep-Oct; 89 (1-2):134-8 Epub 2006 Apr 27
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  39. Baudhuin LM, Ferber MJ, Winters JL, Steenblock KJ, Swanson RL, French AJ, Butz ML, Thibodeau SN. Characterization of hMLH1 and hMSH2 gene dosage alterations in Lynch syndrome patients. Gastroenterology. 2005 Sep; 129: (3)846-54.
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  40. Yu TX, Ferber MJ, Cheung TH, Chung TKH, Wong YF, Smith DI. The role of viral integration in the development of cervical cancer. Cancer Genetics & Cytogenetics. 2005 Apr 1; 158(1):27-34.
  41. Ferber MJ, Eilers P, Schuuring E, Fenton JA, Fleuren GJ, Kenter G, Szuhai K, Smith DI, Raap AK, Brink AA. Positioning of cervical carcinoma and Burkitt lymphoma translocation breakpoints with respect to the human papillomavirus integration cluster in FRA8C at 8q24.13. Cancer Genet Cytogenet. 2004 Oct 1; 154(1):1-9.
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  42. Ferber MJ, Thorland EC, Brink AA, Rapp AK, Phillips LA, McGovern R, Gostout BS, Cheung TH, Chung TK, Fu WY, Smith DI. Preferential integration of human papillomavirus type 18 near the c-myc locus in cervical carcinoma. Oncogene. 2003 Oct 16; 22 (46):7233-42
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  43. Ferber MJ, Montoya DP, Yu C, Aderca I, McGee A, Thorland EC, Nagorney DM, Gostout BS, Burgart LJ, Boix L, Bruix J, McMahon BJ, Cheung TH, Chung TK, Wong YF, Smith DI, Roberts LR. Integrations of the hepatitis B virus (HBV) and human papillomavirus (HPV) into the human telomerase reverse transcriptase (hTERT) gene in liver and cervical cancers. Oncogene. 2003 Jun 12; 22(24):3813-20.
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  44. Denison SR, Becker NA, Ferber MJ, Phillips LA, Kalli KR, Lee J, Lillie J, Smith DI, Shridhar V. Transcriptional profiling reveals that several common fragile-site genes are downregulated in ovarian cancer. Genes Chromosomes Cancer. 2002 Aug; 34(4):406-15.
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  45. Ferber MJ, Maher LJ 3rd. Combinatorial selection of a small RNA that induces amplification of IncFII plasmids in Escherichia coli. J Mol Biol. 1998 Jun 12; 279(3):565-76.
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  46. Ferber MJ, Maher LJ 3rd. Quantitating oligonucleotide affinities for duplex DNA: footprinting vs electrophoretic mobility shift assays. Anal Biochem. 1997 Jan 15; 244(2):312-20.
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