Virginia P. Sybert, M.D.

Clinical Professor
Division of Medical Genetics, Department of Medicine
University of Washington

Staff Physician
Group Health Permanente

University of Washington
Medicine/Medical Genetics
Box 357720
Seattle, WA 98195-7720
Physical location: CHDD 411

For dermatology appointments (Group Health): 206-326-2111
For medical genetics appointments (UW): 206-598-4030

Research Program:

Dr. Sybert is a clinical geneticist pursuing two major areas of research. The first is a long-term study of the sex chromosome disorder, Turner syndrome. She has established a large (> 600 patients) clinic for children and adults with Turner syndrome. Through this clinic, she has investigated several aspects of the natural history of Turner syndrome. Current projects include recommendations for care, description of long-term complications, cardiovascular complications, and evaluation of psychosexual and self-image attitudes in adults with Turner Syndrome.

The second general area of research is in the inherited disorders of the skin.

She is the author of Genetic Skin Disorders (Oxford University Press, 1997; 3rd edition in press), winner of the Clinical Medicine Award. Association of American Publishers and has been listed in Best Doctors in America in both Medical Genetics and Dermatology since 1994.

Investigator: Dr. Sybert is a Clinical Professor of Medicine (Medical Genetics) and a Staff Physician (Pediatric Dermatology) at Group Health Cooperative in Seattle.

Representative Publications:

Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil K , Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG. A point mutation in PDGFRB causes autosomal dominant Penttinen syndrome. AJHG, in press.

Sybert VP. So You Want to Be in Journals, or What Happens When You Press "Send". Pediatr Dermatol. 2015 Jul; 32(4):558-61. doi: 10.1111/pde.12573. Epub 2015 Apr 6. PubMed PMID: 25847689.

Amendola LM, Dorschner MO, Robertson PD, Salama JS, Hart R, Shirts BH, Murray ML, Tokita MJ, Gallego CJ, Kim DS, Bennett JT, Crosslin DR, Ranchalis J, Jones KL, Rosenthal EA, Jarvik ER, Itsara A, Turner EH, Herman DS, Schleit J, Burt A, Jamal SM, Abrudan JL, Johnson AD, Conlin LK, Dulik MC, Santani A, Metterville DR, Kelly M, Foreman AK, Lee K, Taylor KD, Guo X, Crooks K, Kiedrowski LA, Raffel LJ, Gordon O, Machini K, Desnick RJ, Biesecker LG, Lubitz SA, Mulchandani S, Cooper GM, Joffe S, Richards CS, Yang Y, Rotter JI, Rich SS, O'Donnell CJ, Berg JS, Spinner NB, Evans JP, Fullerton SM, Leppig KA, Bennett RL, Bird T, Sybert VP, Grady WM, Tabor HK, Kim JH, Bamshad MJ, Wilfond B, Motulsky AG, Scott CR, Pritchard CC, Walsh TD, Burke W, Raskind WH, Byers P, Hisama FM, Rehm H, Nickerson DA, Jarvik GP. Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 Mar;25(3):305-15. PubMed PMID: 25637381.

Feigenbaum DF, Sybert VP, Vanderhooft SL, Siegel D, Drolet BA, Frieden IJ, Mathes EF. Ventral midline blanching in the setting of segmental infantile hemangiomas: clinical observations and pathogenetic implications. Pediatr Dermatol. 2015 Mar-Apr;32(2):180-7. PubMed PMID: 25529105.

Torrelo A, Hadj-Rabia S, Colmenero I, Piston R, Sybert VP, Hilari-Carbonell H, Hernández-Martín A, Ferreres JC, Vañó-Galván S, Azorín D, de Salamanca JE, Requena L, Bodemer C, Happle R, García-Patos V, Fraitag S. Folliculocystic and collagen hamartoma of tuberous sclerosis complex. J Am Acad Dermatol. 2012 Apr;66(4):617-21. PubMed PMID: 21839539.

Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. Hum Mutat. 2010 Oct;31(10):1125-33. PubMed PMID: 20672378.

Siegel DH, Sybert VP. Mosaicism in genetic skin disorders. Pediatr Dermatol. 2006 Jan-Feb;23(1):87-92. PubMed PMID: 16445423.

Chien AJ, Valentine MC, Sybert VP. Hereditary woolly hair and keratosis pilaris. J Am Acad Dermatol. 2006 Feb;54(2 Suppl):S35-9. PubMed PMID: 16427989.

Siegfried E, Bree A, Fete M, Sybert VP. Skin erosions and wound healing in ankyloblepharon-ectodermal defect-cleft lip and/or palate. Arch Dermatol. 2005 Dec;141(12):1591-4. PubMed PMID: 16365264.

Motil KJ, Fete TJ, Fraley JK, Schultz RJ, Foy TM, Ochs U, Sybert VP. Growth characteristics of children with ectodermal dysplasia syndromes. Pediatrics. 2005 Aug;116(2):e229-34. PubMed PMID: 16061575.

Lombillo VA, Sybert VP. Mosaicism in cutaneous pigmentation. Curr Opin Pediatr. 2005 Aug;17(4):494-500. PubMed PMID: 16012262.

Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet. 2005 May;76(5):794-803. PubMed PMID: 15756637.

Siegel DH, Sybert VP. Understanding aneuploidy. Pediatr Dermatol. 2005 May-Jun;22(3):270-5. PubMed PMID: 15916583.

Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004 Sep 16;351(12):1227-38. PubMed PMID: 15371580.

Leppig KA, Sybert VP, Ross JL, Cunniff C, Trejo T, Raskind WH, Disteche CM. Phenotype and X inactivation in 45,X/46,X,r(X) cases. Am J Med Genet A. 2004 Jul 30;128(3):276-84. PubMed PMID: 15216549.

Sybert VP. Turner syndrome. In Management of Genetic Disorders. Cassidy S and Allanson J (eds) New York: Wiley-Liss, 2003.

Sybert VP and Zonana J. Ectodermal dyplasias. In Dermatology. J Bolognia et al (eds). New York: Mosby, 2003.

Sybert VP. Ectodermal dyplasias. In Fitzpatrick's Dermatology in General Medicine. 6th edition. I Freedberg et al (eds). New York: McGraw-Hill, 2003.

Mitchell A, Parisi M, Sybert VP. Effects of pregnancy on the renal and pulmonary manifestations in women with tuberous Sclerosis complex. Genet Med 5(3):154-60, 2003. PubMed PMID: 12792422.