Anne Slavotinek, MD, PhD

Medical geneticist

Dr. Anne Slavotinek specializes in clinical genetics, caring for patients who have or may have genetic disorders. Her interests include dysmorphology, the study of patterns of congenital anomalies (often called birth defects). Her research is directed toward discovering and understanding 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 completed a residency in medical genetics at the Churchill Hospital, an affiliate of Oxford University Medical School, followed by a fellowship in medical genetics at St. Mary's Hospital, part of Manchester University NHS Foundation Trust. She then came to the United States and completed another fellowship in medical genetics at the National Institutes of Health.


Craniofacial Center
1825 Fourth St., Fifth Floor, 5C
San Francisco, CA 94158
Phone: (415) 476-2271
Fax: (415) 476-9513

Medical Genetics and Genomics Clinic
1825 Fourth St., Sixth Floor
San Francisco, CA 94158
Phone: (415) 476-2757
Fax: (415) 476-9305

Conditions & Treatments

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University of Adelaide 1987


Oxford University Medical School, Medical Genetics 1995


Manchester University NHS Foundation Trust, Medical Genetics 1998
National Institutes of Health, Medical Genetics 2002

Selected Research and Publications

  2. Slavotinek A, Solomon BD, Muenke M. Early inspirations from times gone by. Am J Med Genet A. 2018 Jul 31.
  3. Douglas MP, Parker SL, Trosman JR, Slavotinek AM, Phillips KA. Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited. Genet Med. 2018 Jul 12.
  4. Krall M, Htun S, Anand D, Hart D, Lachke SA, Slavotinek AM. Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans. Hum Genet. 2018 May 11.
  5. Krall M, Htun S, Anand D, Hart D, Lachke SA, Slavotinek AM. A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans. Hum Genet. 2018 Apr; 137(4):315-328.
  6. Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A. Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). Am J Med Genet A. 2018 Apr; 176(4):997-1000.
  7. Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 Apr; 176(4):925-935.
  8. Kievit A, Tessadori F, Douben H, Jordens I, Maurice M, Hoogeboom J, Hennekam R, Nampoothiri S, Kayserili H, Castori M, Whiteford M, Motter C, Melver C, Cunningham M, Hing A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Richieri-Costa A, Baas AF, Breugem CC, Duran K, Massink M, Derksen PWB, van IJcken WFJ, van Unen L, Santos-Simarro F, Lapunzina P, Gil-da Silva Lopes VL, Lustosa-Mendes E, Krall M, Slavotinek A, Martinez-Glez V, Bakkers J, van Gassen KLI, de Klein A, van den Boogaard MH, van Haaften G. Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. Eur J Hum Genet. 2018 Feb; 26(2):210-219.
  9. Anand D, Agrawal SA, Slavotinek A, Lachke SA. Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. Hum Mutat. 2018 Apr; 39(4):471-494.
  10. Slavotinek A, Risolino M, Losa M, Cho MT, Monaghan KG, Schneidman-Duhovny D, Parisotto S, Herkert JC, Stegmann APA, Miller K, Shur N, Chui J, Muller E, DeBrosse S, Szot JO, Chapman G, Pachter NS, Winlaw DS, Mendelsohn BA, Dalton J, Sarafoglou K, Karachunski PI, Lewis JM, Pedro H, Dunwoodie SL, Selleri L, Shieh J. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. Hum Mol Genet. 2017 Dec 15; 26(24):4849-4860.
  11. Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek AM. Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. Am J Med Genet A. 2017 Nov; 173(11):3075-3081.
  12. Tan WH, Bird LM, Sadhwani A, Barbieri-Welge RL, Skinner SA, Horowitz LT, Bacino CA, Noll LM, Fu C, Hundley RJ, Wink LK, Erickson CA, Barnes GN, Slavotinek A, Jeremy R, Rotenberg A, Kothare SV, Olson HE, Poduri A, Nespeca MP, Chu HC, Willen JM, Haas KF, Weeber EJ, Rufo PA. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 2018 May; 176(5):1099-1107.
  13. Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N. HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia. Am J Med Genet A. 2017 Nov; 173(11):3070-3074.
  14. Kuo DS, Sokol JT, Minogue PJ, Berthoud VM, Slavotinek AM, Beyer EC, Gould DB. Characterization of a variant of gap junction protein a8 identified in a family with hereditary cataract. PLoS One. 2017; 12(8):e0183438.
  15. Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. Eur J Med Genet. 2017 Oct; 60(10):504-508.
  16. von Spiczak S, Helbig KL, Shinde DN, Huether R, Pendziwiat M, Lourenço C, Nunes ME, Sarco DP, Kaplan RA, Dlugos DJ, Kirsch H, Slavotinek A, Cilio MR, Cervenka MC, Cohen JS, McClellan R, Fatemi A, Yuen A, Sagawa Y, Littlejohn R, McLean SD, Hernandez-Hernandez L, Maher B, Møller RS, Palmer E, Lawson JA, Campbell CA, Joshi CN, Kolbe DL, Hollingsworth G, Neubauer BA, Muhle H, Stephani U, Scheffer IE, Pena SDJ, Sisodiya SM, Helbig I. DNM1 encephalopathy: A new disease of vesicle fission. Neurology. 2017 Jul 25; 89(4):385-394.
  17. Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. J Med Genet. 2017 Sep; 54(9):585-590.
  18. Bardakjian T, Krall M, Wu D, Lao R, Tang PL, Wan E, Kopinsky S, Schneider A, Kwok PY, Slavotinek A. A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 (GDF3) in a female with unilateral anophthalmia and skeletal anomalies. Am J Ophthalmol Case Rep. 2017 Sep; 7:102-106.
  19. Alhariri A, Hamilton K, Oza V, Cordoro K, Sobreira NL, Malloy M, Slavotinek A. Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. Am J Med Genet A. 2017 Aug; 173(8):2275-2279.
  20. Miranda P, Slavotinek A. Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association. Clin Dysmorphol. 2017 Apr; 26(2):132-133.

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.