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Mark E. Nunes, FAAP, MD

Languages spoken: English

Academic Information

Departments Primary - Pediatrics

Divisions: Medical Genetics

Academic Office Information

mark.e.nunes@hsc.utah.edu

Board Certification

  • American Board of Medical Genetics and Genomics (Clinical Molecular Genetics)
  • American Board of Medical Genetics (Clinical Genetics)
  • American Board of Pediatrics (Pediatrics)
  • National Board of Medical Examiners

Education History

Undergraduate University of California, Davis
 BS
Professional Medical Uniformed Services University F. Edward Hébert School of Medicine
 MD
Internship David Grant USAF Medical Center, Uniformed Services University F. Edward Hébert School of Medicine
 Intern
Residency David Grant USAF Medical Center, Uniformed Services University F. Edward Hébert School of Medicine
 Resident
Fellowship University of Washington School of Medicine
 Senior Fellow
Fellowship University of Washington School of Medicine
 Senior Fellow
Fellowship Inova Fairfax Hospital for Children, University of Virginia (UVA) School of Medicine
 Fellow

Selected Publications

Journal Article

  1. Jackson S, Freeman R, Noronha A, Jamil H, Chavez E, Carmichael J, Ruiz KM, Miller C, Benke S, Perrot R, Hockley M, Murphy K, Casillan A, Radanovich L, Deforest R, Nunes ME, Galarreta-Aima C, Sidlow R, Einhorn Y, Woods (2024). Applying data science methodologies with artificial intelligence variant reinterpretation to map and estimate genetic disorder prevalence utilizing clinical data. American journal of medical genetics. Part A, 194(5), e63505.
  2. Farwell Hagman KD, Shinde DN, Mroske C, Smith E, Radtke K, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Alcaraz WA, Helbig KL, Sajan SA, Rossi M, Lu HM, Huether R, Li S, Wu S, Nuñes ME, Tang (2017). Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genetics in medicine, 19(2), 224-235.
  3. Allyse M, Aypar U, Bonhomme N, Darilek S, Dougherty M, Farrell R, Grody W, Highsmith WE, Michie M, Nunes M, Otto L, Pabst R, Palomaki G, Runke C, Sharp RR, Skotko B, Stoll K, Wick (2017). Offering Prenatal Screening in the Age of Genomic Medicine: A Practical Guide. Journal of women's health (2002), 26(7), 755-761.
  4. von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Grou (2017). DNM1 encephalopathy: A new disease of vesicle fission. Neurology, 89(4), 385-394.
  5. Levy DJ, Pretorius DH, Rothman A, Gonzales M, Rao C, Nunes ME, Bendelstein J, Mehalek K, Thomas A, Nehlsen C, Ehr J, Burchette RJ, Sklansky M (2013). Improved prenatal detection of congenital heart disease in an integrated health care system. Pediatric cardiology, 34(3), 670-9.
  6. Mast KJ, Nunes ME, Ruymann FB, Kerlin BA (2009). Desmopressin responsiveness in children with Ehlers-Danlos syndrome associated bleeding symptoms. Br J Haematol, 144(2), 230-3.
  7. Byers PH, Krakow D, Nunes ME, Pepin M, American college of medical genetics (2006). Genetic evaluation of suspected osteogenesis imperfecta (OI). Genet Med, 8(6), 383-8.
  8. Fries MH, Bashford M, Nunes M (2005). Implementing prenatal screening for cystic fibrosis in routine obstetric practice. Am J Obstet Gynecol, 192(2), 527-34.
  9. Fries MH, Holt C, Carpenter I, Carter CL, Daniels J, Flanagan J, Murphy K, Hailey BJ, Martin L, Hume R, Hudson G, Cadman M, Weatherly R, Nunes ME (2002). Diagnostic criteria for testing for BRCA1 and BRCA2: the experience of the Department of Defense Familial Breast/Ovarian Cancer Research Project. Mil Med, 167(2), 99-103.
  10. Fries MH, Holt C, Carpenter I, Carter CL, Daniels J, Flanagan J, Murphy K, Hailey BJ, Martin L, Hume R, Hudson G, Cadman M, Weatherly R, Nunes ME (2002). Guidelines for evaluation of patients at risk for inherited breast and ovarian cancer: recommendations of the Department of Defense Familial Breast/Ovarian Cancer Research Project. Mil Med, 167(2), 93-8.
  11. Seto ML, Nunes ME, MacArthur CA, Cunningham ML (1997). Pathogenesis of ectrodactyly in the Dactylaplasia mouse: aberrant cell death of the apical ectodermal ridge. Teratology, 56(4), 262-70.
  12. Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P (1996). A split hand-split foot (SHFM3) gene is located at 10q24-->25. Am J Med Genet, 62(4), 427-36.
  13. Nunes ME, Schutt G, Kapur RP, Luthardt F, Kukolich M, Byers P, Evans JP (1995). A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. Hum Mol Genet, 4(11), 2165-70.
  14. Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M, Geshuri D, Wong E, Belloni E, Little S (1994). Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Hum Mol Genet, 3(8), 1345-54.
  15. Burman KD, Djuh YY, LaRocca RV, Nunes ME, D'Avis JC, Nicholson DE, Wartofsky L (1987). c-myc expression in the thyroid. I: Normal, adenomatous, and cancerous thyroid tissue. Horm Metab Res Suppl, 17, 63-5.
  16. Nunes ME, Djuh YY, Larocca RV, Nicholson DE, Baker JR Jr, Wartofsky L, D'Avis JC, Burman KD (1987). c-myc expression in the thyroid. II: Thyrocytes and peripheral and intrathyroidal lymphocytes from patients with autoimmune thyroid disease. Horm Metab Res Suppl, 17, 66-9.

Review

  1. Rush E, Brandi ML, Khan A, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Starling SR, Ward L, Yao L, Brignardello-Petersen R, Simmons J (2024). Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group. Osteoporosis international, 35(1), 1-10.
  2. Brandi ML, Khan AA, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Roux (2024). The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance. Osteoporosis international, 35(3), 439-449.
  3. Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Lewiecki E (2024). Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Osteoporosis international, 35(3), 431-438.
  4. Kishnani PS, Rush ET, Arundel P, Bishop N, Dahir K, Fraser W, Harmatz P, Linglart A, Munns CF, Nunes ME, Saal HM, Seefried L, Ozono (2017). Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. Molecular genetics and metabolism, 122(1-2), 4-17.
  5. Scherer SW, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stephens K, Pagon RA, Patton MA (1994). Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. [Review]. Am J Hum Genet, 55, (1), 12-20.

Case Report

  1. Lia-Baldini AS, Brun-Heath I, Carrion C, Simon-Bouy B, Serre JL, Nunes ME, Mornet E (2008). A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. Hum Genet, 123(4), 429-32.
  2. Brun-Heath I, Lia-Baldini AS, Maillard S, Taillandier A, Utsch B, Nunes ME, Serre JL, Mornet E (2007). Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. Eur J Med Genet, 50(5), 367-78.
  3. Lia-Baldini AS, Muller F, Taillandier A, Gibrat JF, Mouchard M, Robin B, Simon-Bouy B, Serre JL, Aylsworth AS, Bieth E, Delanote S, Freisinger P, Hu JC, Krohn HP, Nunes ME, Mornet E (2001). A molecular approach to dominance in hypophosphatasia. Hum Genet, 109(1), 99-108.
  4. Nunes ME, Pagon RA, Disteche CJ, Evans JP (1994). A contiguous gene deletion syndrome at 7q21-q22 and implications for a relationship between isolated ectrodactyly and syndromic ectrodactyly. Clin Dysmorphol, 3(4), 277-86.