David B. Everman, MD

Associate Clinical Geneticist – Greenville Office
Director, Medical Genetics and Genomics Residency Program

DavidEvermanDr. Everman is a clinical geneticist located in the Greenville office of the GGC. The majority of his time is devoted to the diagnostic evaluation and care of patients with known or suspected genetic conditions. He is also involved in clinical and basic science research on the genetic basis of human limb malformations, and in the supervision and education of medical genetics residents, pediatric residents, genetic counseling students, and medical students. Dr. Everman has a special interest in split-hand/foot malformations, Proteus syndrome and other overgrowth disorders. He is board certified by the American Board of Pediatrics (1996, recertified 2003) and the American Board of Medical Genetics (1999, recertified 2010).

Selected Publications

  • Zarate YA, Kalsner L, Basinger A, Jones JR, Li C, Szybowska M, Xu ZL, Vergano S, Caffrey AR, Gonzalez CV, Dubbs H, Zackai E, Millan F, Telegrafi A, Baskin B, Person R, Fish JL, Everman DB. Genotype and Phenotype in 12 additional individuals with SATB2-Associated Syndrome. Clin Genet, 2017 [Epub ahead of print].

  •  Kaufmann W, Stallworth JL, Everman DB, Skinner SA. Neurobiologically-based treatments in Rett syndrome: opportunities and challenges. Expert Opin Orphan Drugs 4:1043, 2016.

  • Millan F, Cho MT, Retterer K, Monaghan KG, Bai R, Vitazka P, Everman DB, Smith B, Angle B, Roberts V, Immken L, Nagakura H, DiFazio M, Sherr E, Haverfield E, Friedman B, Telegrafi A, Juusola J, Chung WK, Bale S. Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Am J Med Genet A 170:1791, 2016.

  • Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney HM, Zou YS, Tan WH, Hanscom C, Kirmani S, Hanson RR, Skinner SA, Rogers RC, Everman DB, Boyd E, Tapp C, Mullegama SV, Keelean-Fuller D, Powell CM, Elsea SH, Morton CC, Gusella JF, Dupont B, Chaubey A, Lin AE, Talkowski ME. Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry 19:368, 2014.

  • Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Mutations in the human UBR1 gene and the associated phenotypic spectrum. Hum Mutat 35:521, 2014.

  • McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM Jr, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics, Bamshad MJ. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet 94:734, 2014.

  • Everman DB, Biesecker LG. Limb anomalies. In: Hudgins L, Toriello HV, Enns GM, Hoyme HE, eds. Signs and Symptoms of Genetic Conditions: A Handbook. Oxford University Press: New York, 2014.

  • Zarate YA, Dwivedi A, Bartel FO, Bellomo MA, Cathey SS, Champaigne NL, Clarkson LK, Dupont BR, Everman DB, Geer JS, Gordon BC, Lichty AW, Lyons MJ, Rogers RC, Saul RA, Schroer RJ, Skinner SA, Stevenson RE. Clinical utility of the X-chromosome array. Am J Med Genet A 161A:120, 2013.

  • Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H. Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis. Am J Hum Genet 92:1001, 2013.

  • Gurrieri F, Everman DB. Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update. Am J Med Genet A 161A:2860, 2013.

  • Birnbaum RY, Everman DB, Murphy KK, Gurrieri F, Schwartz CE, Ahituv N. Functional characterization of tissue-specific enhancers in the DLX5/6 locus. Hum Mol Genet 21:4930, 2012.

  • Birnbaum Raymon, Clowney E. Josephine, Agamy Orly, J Kim Mee, Zhao Jingjing, Yamanaka Takayuki, et al, David B. Everman, Charles E. Schwartz. Coding exons function as tissue-specific enhancers of nearby genes. Genome Res 2012 June 22(6):1059-68.
  • Radhakrishna U, Nath SK, McElreavey K, et al., Everman DB, Schwartz CE. Genome-wide linkage and copy number variation analysis reveals 710kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. J Med Genet 2012 Apr;49(4):270-276.

  • Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L. 2011. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet Part A.2012. Feb 158A(2):391-9.

  • Armour CM, Bulman DE, Jarinova O, Rogers RC, Clarkson KB, DuPont BR, Dwivedi A, Bartel FO, McDonell L, Schwartz CE, Boycott KM, Everman DB, Graham GE. 17p13.3 Microduplications are associated with Split-Hand/Foot Malformation and Long Bone Deficiency (SHFLD). Eur J Hum Genet 2011. 9(11):1144-51.

  • Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J, Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N, Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM, Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S, Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH, Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL, Mullikin JC, Biesecker LG. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011 Aug 18;365(7):611-9.

  • Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, Ilchyshyn A, Burrows N, Lestringant G, Taylor A, Kennedy C, Paige D, Harper J, Glover M, Fleckman P, Everman D, Fouani M, Kayserili H, Purvis D, Hobson E, Chu C, Mein C, Kelsell D, O'Toole E. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011 Jun;147(6):681-6.

  • Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. Clin Genet 79(5):468-74, 2010.

  • Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, Dimauro S. A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Archives of Neurology 67:239, 2010.

  • Siddiqui AM, Everman DB, Rogers RC, DuPont BR, Smith BT, Seaver LH, Morales A, Varn M, Cohen B, Traboulsi EI. Microcephaly and congenital grouped pigmentation of the retinal pigment epithelium associated with submicroscopic deletions of 13q33.3-q34 and 11p15.4. Ophthalmic Genetics 30:136, 2009.

  • Amador C, Mathews AM, Del Carmen Montoya M, Laughridge ME, Everman DB, Holden KR. Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family. Journal of Child Neurology 23:901, 2008.

  • Kumar RA, Everman DB, Morgan CT, Slavotinek A, Schwartz CE, Simpson EM. Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes. BMC Medical Genetics 8:48, 2007.

  • Babbs C, Heller R, Everman DB, Crocker M, Twigg SR, Schwartz CE, Giele H, Wilkie AO. A new locus for split hand/foot malformation with long bone deficiency (SHFLD) at 2q14.2 identified from a chromosome translocation. Human Genetics 122:191, 2007.

  • Lyle R, Radhakrishna U, Blouin J-L, Gagos S, Everman DB, Gehrig C, Delozier-Blanchet C, Solanki JV, Patel UC, Nath SK, Neri G, Schwartz CE, Antonarakis SE. Split hand-split foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. American Journal of Medical Genetics Part A 140A:1384, 2006.

  • Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE. Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and nonsyndromic split-hand/foot malformation. American Journal of Medical Genetics Part A 140A:1375, 2006.

  • Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB. LADD syndrome is caused by FGF10 mutations. Clinical Genetics 69:349, 2006.

  • Osterlund T, Everman DB, Betz RC, Mosca M, Nothen MM, Schwartz CE, Zaphiropoulos PG, Toftgard R. The FU gene and its possible protein isoforms. BMC Genomics 5:49, 2004.

  • Zand DJ, Huff D, Everman D, Russell K, Saitta S, McDonald-McGinn D, Zackai EH. Autosomal dominant inheritance of infantile myofibromatosis. American Journal of Medical Genetics 126A:261, 2004.

  • de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin J-L, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Human Molecular Genetics 12:1959, 2003.

  • Savarirayan R, White SM, Goodman FR, Graham JM Jr., Delatycki MB, Lachman RS, Rimoin DL, Everman DB, Warman ML. Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families. American Journal of Medical Genetics 117A:136, 2003.

  • de Mollerat XJ, Everman DB, Morgan CT, Clarkson KB, Rogers RC, Colby RS, Aylsworth A, Graham, JM Jr., Stevenson RE, Schwartz CE. P63 mutations are not a major cause of nonsyndromic split hand/foot malformation. Journal of Medical Genetics 40:55, 2003.

  • Everman DB, Bartels CF, Yang Y, Yanamandra N, Goodman FR, Mendoza-Londono JR, Savarirayan R, White SM, Graham JM, Gale RP, Svarch E, Newman WG, Kleckers AR, Francomano CA, Govindaiah V, Singh L, Morrison S, Thomas JT, Warman ML. The mutational spectrum of Brachydactyly type C. American Journal of Medical Genetics 112: 291, 2002.

Book (Editorship)

  • Stevenson RE, Hall JG, Everman DB, Solomon BD, eds. Human Malformations and Related Anomalies, 3rd Ed. Oxford University Press: New York, 2015.

Book Chapters

  • Everman DB. Hands and Feet. In: Stevenson RE, Hall JG, Everman DB, Solomon BD, eds. Human Malformations and Related Anomalies, 3rd Ed. Oxford University Press: New York, 2015.

  • Everman DB, Biesecker LG. Limb anomalies. In: Hudgins L, Toriello HV, Enns GM, Hoyme HE, eds. Signs and Symptoms of Genetic Conditions: A Handbook. Oxford University Press: New York, 2014.

  • Everman DB. Brachydactyly Type C. In: Lang F, ed. Encyclopedia of Molecular Mechanisms of Disease. Springer, 2009.

  • Everman DB. Hands and Feet. In: Stevenson RE, Hall JG, eds. Human Malformations and Related Anomalies, 2nd Ed. Oxford University Press: New York, 2006.

  • Everman DB. Brachydactyly. In: Blachford SL, ed. The Gale Encyclopedia of Genetic Disorders. Gale Group: Farmington Hills, MI, 2002.

  • Wiesner GL, Everman DB, Cassidy SB. Constitutional chromosome abnormalities in adults. In: The Genetic Basis of Common Diseases, King RA, Rotter J, Motulsky A, eds. Oxford University Press, New York, NY, 2002.

Contact Information

Office (864) 250-7944
Fax (864) 250-9582
deverman@ggc.org
vCard

Education/Faculty Appointments

  • Wake Forest University, Winston-Salem, North Carolina, B.S. in Chemistry, 1989
  • Emory University School of Medicine, Atlanta, Georgia, M.D., 1993
  • Residency in Pediatrics, Department of Pediatrics, Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, 1993 – 1996
  • Residency in Medical Genetics, Department of Genetics, Case Western Reserve University and University Hospitals of Cleveland, Cleveland, Ohio, 1997 – 2000
  • Independent contractor (hospital-based pediatrician) for New Century Pediatrics, Findlay, Ohio, 1996 - 1997
  • Assistant Clinical Geneticist, Greenwood Genetic Center, Greenwood, SC, 2000 - 2007
  • Associate Clinical Geneticist, Greenwood Genetic Center, Greenwood, SC, April, 2007 - November 2007
  • Staff Clinician, National Human Genome Research Institute (Genetic Disease Research Branch, Human Development Section), National Institutes of Health, January 2008 - August 2008
  • Associate Clinical Geneticist, Greenwood Genetic Center, Greenwood, SC, August 2008 - present
  • Adjunct Research Assistant Professor, Department of Genetics and Biochemistry, Clemson University, Clemson, SC, January, 2002 – 2012
  • Medical Director, Genetic Counseling Program, University of South Carolina, and Clinical Assistant Professor of Obstetrics and Gynecology, University of South Carolina School of Medicine, Columbia, SC, July, 2011- present
  • Clinical Assistant Professor, University of South Carolina School of Medicine - Greenville, December 2011 - present
  • Greenville Hospital System Assistant Professor of Clinical Pediatrics, University of South Carolina School of Medicine, July 2012 - present