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Home > Doctors > Anne M. Slavotinek

Anne M. Slavotinek, Ph.D., M.D.

Pediatric medical geneticist

Dr. Anne Slavotinek specializes in clinical genetics. Her interests include dysmorphology -- the study of patterns of congenital anomalies -- and her research is directed towards the discovery and understanding of genes that cause multiple congenital anomaly syndromes.

Slavotinek earned her medical degree from the University of Adelaide in South Australia. After moving to the United Kingdom and completing her doctorate, she did a residency in medical genetics at the Churchill Hospital in Oxford and a fellowship at St. Mary's Hospital in Manchester. Slavotinek then went to the National Institutes of Health where she completed a fellowship in medical genetics. She has been a member of the UCSF faculty since 2002 as an assistant professor in the Division of Medical Genetics in the Department of Pediatrics.

Conditions & Treatments

Clinics

Center for Craniofacial Anomalies
513 Parnassus Avenue, S-747
San Francisco, CA 94143-0570
Phone: (415) 476-2271

General Genetics Clinic
400 Parnassus, Second Floor
San Francisco, CA 94143
Phone: (415) 476-2757

More about Anne M. Slavotinek

Education

University of Adelaide 1987

Residencies

Churchill Hospital, John Radcliffe Trust, Oxford, Medical Genetics 1995

Fellowships

St. Mary's Hospital, Manchester, Medical Genetics 1998
National Institutes of Health, Medical Genetics 2002

Selected Research and Publications

  1. Lopez Jimenez N, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM. Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med Genet. 2011; 12(1):172.
  2. Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans. Hum Mutat. 2012 Feb; 33(2):364-8.
  3. Mefford HC, Rosenfeld JA, Shur N, Slavotinek AM, Cox VA, Hennekam RC, Firth HV, Willatt L, Wheeler P, Morrow EM, Cook J, Sullivan R, Oh A, McDonald MT, Zonana J, Keller K, Hannibal MC, Ball S, Kussmann J, Gorski J, Zelewski S, Banks V, Smith W, Smith R, Paull L, Rosenbaum KN, Amor DJ, Silva J, Lamb A, Eichler EE. Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet. 2012 Feb; 49(2):110-8.
  4. Sanford EF, Bermudez-Wagner K, Jeng LJ, Rauen KA, Slavotinek AM. Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. Am J Med Genet A. 2011 Nov; 155A(11):2816-20.
  5. Slavotinek AM. Eye development genes and known syndromes. Mol Genet Metab. 2011 Dec; 104(4):448-56.
  6. Wat MJ, Veenma D, Hogue J, Holder AM, Yu Z, Wat JJ, Hanchard N, Shchelochkov OA, Fernandes CJ, Johnson A, Lally KP, Slavotinek A, Danhaive O, Schaible T, Cheung SW, Rauen KA, Tonk VS, Tibboel D, de Klein A, Scott DA. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet. 2011 May; 48(5):299-307.
  7. Slavotinek AM, Baranzini SE, Schanze D, Labelle-Dumais C, Short KM, Chao R, Yahyavi M, Bijlsma EK, Chu C, Musone S, Wheatley A, Kwok PY, Marles S, Fryns JP, Maga AM, Hassan MG, Gould DB, Madireddy L, Li C, Cox TC, Smyth I, Chudley AE, Zenker M. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun; 48(6):375-82.
  8. Slavotinek AM, Rosenfeld JA, Chao R, Niyazov D, Eswara M, Bader PI, Stockton DW, Stankiewicz P, Adam MP. A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation. Am J Med Genet A. 2011 May; 155A(5):1196-201.
  9. Slavotinek AM, Vargervik K. Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations. Clin Dysmorphol. 2011 Jan; 20(1):11-4.
  10. Slavotinek A, Beales P. Clinical utility gene card for: Bardet-Biedl syndrome. Eur J Hum Genet. 2011 Mar; 19(3).
  11. Bardakjian TM, Kwok S, Slavotinek AM, Schneider AS. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. Am J Med Genet A. 2010 Dec; 152A(12):3120-3.
  12. Hogue J, Shankar S, Perry H, Patel R, Vargervik K, Slavotinek A. A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. Am J Med Genet A. 2010 Oct; 152A(10):2574-7.
  13. Chao R, Nevin L, Agarwal P, Riemer J, Bai X, Delaney A, Akana M, JimenezLopez N, Bardakjian T, Schneider A, Chassaing N, Schorderet DF, FitzPatrick D, Kwok PY, Ellgaard L, Gould DB, Zhang Y, Malicki J, Baier H, Slavotinek A. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One. 2010; 5(5):e10565.
  14. Peña WA, Slavotinek A, Oberoi S. Saethre-Chotzen syndrome: a case report. Cleft Palate Craniofac J. 2010 May; 47(3):318-21.
  15. Tao YC, Slavotinek AM, Vargervik K, Oberoi S. Hypodontia in Beare-Stevenson syndrome: an example of dental anomalies in FGFR-related craniosynostosis syndromes. Cleft Palate Craniofac J. 2010 May; 47(3):253-8.
  16. Zayed H, Chao R, Moshrefi A, Lopezjimenez N, Delaney A, Chen J, Shaw GM, Slavotinek AM. A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect. Am J Med Genet A. 2010 Apr; 152A(4):916-23.
  17. Lin P, Shankar SP, Duncan J, Slavotinek A, Stone EM, Rutar T. Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband. J AAPOS. 2010 Feb; 14(1):93-6.
  18. LopezJimenez N, Gerber S, Popovici V, Mirza S, Copren K, Ta L, Shaw GM, Trueb B, Slavotinek AM. Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm. Hum Genet. 2010 Mar; 127(3):325-36.
  19. Slavotinek A, Crawford H, Golabi M, Tao C, Perry H, Oberoi S, Vargervik K, Friez M. Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. Am J Med Genet A. 2009 Aug; 149A(8):1814-7.
  20. Parisi MA, Zayed H, Slavotinek AM, Rutledge JC. Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects? Am J Med Genet A. 2009 Jun; 149A(6):1237-40.

Publications are derived from MEDLINE/PubMed and provided by UCSF Profiles, a service of the Clinical & Translational Science Institute (CTSI) at UCSF. Researchers can make corrections and additions by logging on to UCSF Profiles.

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