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Anne 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.


General Genetics Clinic
400 Parnassus Ave., Second Floor
San Francisco, CA 94143
Phone: (415) 476-2757
Fax: (415) 476-9305

Hours: Tuesday and Thursday mornings (except first Tuesday of the month which is an all-day clinic)

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University of Adelaide 1987


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


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

Selected Research and Publications

  1. Tunovic S, Barkovich J, Sherr EH, Slavotinek AM. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. Am J Med Genet A. 2014 Jul; 164(7):1744-9.
  2. Pua HH, Krishnamurthi S, Farrell J, Margeta M, Ursell PC, Powers M, Slavotinek AM, Jeng LJ. Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. Am J Med Genet A. 2014 Jan; 164A(1):237-42.
  3. Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. Hum Mol Genet. 2013 Aug 15; 22(16):3250-8.
  4. Li BC, Hogue J, Eilers M, Mehrotra P, Hyland J, Holm T, Prosen T, Slavotinek AM. Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. Am J Med Genet A. 2013 Mar; 161A(3):619-25.
  5. Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A. Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome. Am J Med Genet A. 2013 Mar; 161A(3):473-8.
  6. Bermudez-Wagner K, Jeng LJ, Slavotinek AM, Sanford EF. 2p16.3 microdeletion with partial deletion of the neurexin-1 gene in a female with developmental delays, short stature, and a congenital diaphragmatic hernia. Clin Dysmorphol. 2013 Jan; 22(1):22-4.
  7. Hogue J, Lee C, Jelin A, Strecker MN, Cox VA, Slavotinek AM. Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. Clin Genet. 2013 Oct; 84(4):392-3.
  8. Gardner MA, Li BC, Wu YW, Slavotinek AM. Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis. Pediatr Neurol. 2012 Dec; 47(6):455-7.
  9. Sanford E, Saadai P, Lee H, Slavotinek A. Congenital high airway obstruction sequence (CHAOS): a new case and a review of phenotypic features. Am J Med Genet A. 2012 Dec; 158A(12):3126-36.
  10. Slavotinek AM, Mehrotra P, Nazarenko I, Tang PL, Lao R, Cameron D, Li B, Chu C, Chou C, Marqueling AL, Yahyavi M, Cordoro K, Frieden I, Glaser T, Prescott T, Morren MA, Devriendt K, Kwok PY, Petkovich M, Desnick RJ. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet. 2013 Feb 15; 22(4):696-703.
  11. Hall JG, Allanson JE, Gripp KW, Slavotinek AM. Special Section. Syndrome-specific growth charts. Am J Med Genet A. 2012 Nov; 158A(11):2645-6.
  12. Jimenez NL, 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; 12:172.
  13. 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.
  14. 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.
  15. 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.
  16. Slavotinek AM. Eye development genes and known syndromes. Mol Genet Metab. 2011 Dec; 104(4):448-56.
  17. 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.
  18. 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.
  19. 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.
  20. 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.

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 to their publications by logging on to UCSF Profiles.