David B. Everman, MD

Associate Clinical Geneticist – Greenville Office

Dr. 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

• 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, advanced online publication, June 1, 2011.

• 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 Chapters

• 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.