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Anne Slavotinek, MD, PhD

TitleProfessor
InstitutionUniversity of California San Francisco
DepartmentPediatrics
Address1550 Fourth St
San Francisco CA 94158
Phone415-514-1783
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    Collapse Overview 

    Collapse Research 
    Collapse Research Activities and Funding
    Genomic sequencing to aid diagnosis in pediatric and prenatal practice: Examining clinical utility, ethical implications, payer coverage, and data integration in a diverse population.
    NIH/NHGRI U01HG009599Aug 4, 2017 - May 31, 2021
    Role: Co-Principal Investigator
    Gene Discovery in Human Anopthalmia/Micropthalmia
    NIH/NEI R21EY022779Sep 1, 2012 - Aug 31, 2014
    Role: Principal Investigator
    Anopthalmia Spectrum Disorders
    NIH/NEI R21EY019999Aug 1, 2010 - Jul 31, 2013
    Role: Principal Investigator
    Molecular Genetic Analysis of Congenital Diaphragmatic Hernia
    NIH/NICHD K08HD053476Apr 1, 2007 - Mar 31, 2013
    Role: Principal Investigator
    Genetic analysis of congenital diaphragmatic hernia
    NIH/NICHD R03HD049411Mar 15, 2005 - Feb 28, 2007
    Role: Principal Investigator
    PEDIATRIC CLINICAL RESEARCH CENTER
    NIH/NCRR M01RR001271Dec 1, 1981 - Mar 31, 2007
    Role: Co-Investigator
    Postdoctoral Training in Medical Genetics
    NIH/NIGMS T32GM007085Jul 1, 1975 - Jun 30, 2014
    Role: Principal Investigator

    Collapse ORNG Applications 
    Collapse Clinical Trials
    Collapse Websites

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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    1. 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. PMID: 29575628.
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    2. 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 A, 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. PMID: 29436146.
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    3. 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. PMID: 29348693.
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    4. 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. PMID: 29314435.
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    5. 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. PMID: 29036646.
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    6. Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek A. Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. Am J Med Genet A. 2017 Nov; 173(11):3075-3081. PMID: 28960803.
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    7. 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. PMID: 28944563.
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    8. 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. PMID: 28898547.
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    9. Kuo DS, Sokol JT, Minogue PJ, Berthoud VM, Slavotinek A, 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. PMID: 28827829.
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    10. 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. PMID: 28687524.
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    11. 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. PMID: 28667181.
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    12. 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. PMID: 28663233.
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    13. 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. PMID: 29260090.
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    14. 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. PMID: 28590052.
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    15. Miranda P, Slavotinek A. Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association. Clin Dysmorphol. 2017 Apr; 26(2):132-133. PMID: 28059850.
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    16. Oatts JT, Duncan JL, Hoyt CS, Slavotinek A, Moore AT. Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1. Ophthalmic Genet. 2017 12; 38(6):559-561. PMID: 28635423.
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    17. Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J Exp Med. 2017 Mar 06; 214(3):623-637. PMID: 28148688.
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    18. Slavotinek A. The Family of Crumbs Genes and Human Disease. Mol Syndromol. 2016 Oct; 7(5):274-281. PMID: 27867342.
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    19. Oates A, Brennan J, Slavotinek A, Alsadah A, Chow D, Lee MM. Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease. Pediatr Transplant. 2016 Nov; 20(7):1000-1003. PMID: 27393152.
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    20. Arunrut T, Sabbadini M, Jain M, Machol K, Scaglia F, Slavotinek A. Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. Am J Med Genet A. 2016 Oct; 170(10):2711-8. PMID: 27320698.
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    21. Slavotinek A. Clinical care models in the era of next-generation sequencing. Mol Genet Genomic Med. 2016 May; 4(3):239-42. PMID: 27247951; PMCID: PMC4867557.
    22. Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JK, Hogue J, Slavotinek A, Shetty A, Balasubramanian M. An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3). Am J Med Genet A. 2016 Jul; 170(7):1918-23. PMID: 27148679.
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    23. Hunter JE, Irving SA, Biesecker LG, Buchanan A, Jensen B, Lee K, Martin CL, Milko L, Muessig K, Niehaus AD, O'Daniel J, Piper MA, Ramos EM, Schully SD, Scott AF, Slavotinek A, Sobreira N, Strande N, Weaver M, Webber EM, Williams MS, Berg JS, Evans JP, Goddard KA. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet Med. 2016 12; 18(12):1258-1268. PMID: 27124788.
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    24. Lamont RE, Tan WH, Innes AM, Parboosingh JS, Schneidman-Duhovny D, Rajkovic A, Pappas J, Altschwager P, DeWard S, Fulton A, Gray KJ, Krall M, Mehta L, Rodan LH, Saller DN, Steele D, Stein D, Yatsenko SA, Bernier FP, Slavotinek A. Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016 10; 24(10):1436-44. PMID: 27004616; PMCID: PMC5027675 [Available on 10/01/17].
    25. Wyszynski DF, Carman WJ, Cantor AB, Graham JM, Kunz LH, Slavotinek A, Kirby RS, Seeger J. Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura. J Pregnancy. 2016; 2016:8297407. PMID: 27092275; PMCID: PMC4820621.
    26. Ullah E, Nadeem Saqib MA, Sajid S, Shah N, Zubair M, Khan MA, Ahmed I, Ali G, Dutta AK, Danda S, Lao R, Ling-Fung Tang P, Kwok PY, Ansar M, Slavotinek A. Genetic analysis of consanguineous families presenting with congenital ocular defects. Exp Eye Res. 2016 05; 146:163-71. PMID: 26995144.
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    27. Brin MF, Kirby RS, Slavotinek A, Miller-Messana MA, Parker L, Yushmanova I, Yang H. Pregnancy outcomes following exposure to onabotulinumtoxinA. Pharmacoepidemiol Drug Saf. 2016 Feb; 25(2):179-87. PMID: 26635276.
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    28. Mirzaa GM, Conti V, Timms AE, Smyser CD, Ahmed S, Carter M, Barnett S, Hufnagel RB, Goldstein A, Narumi-Kishimoto Y, Olds C, Collins S, Johnston K, Deleuze JF, Nitschké P, Friend K, Harris C, Goetsch A, Martin B, Boyle EA, Parrini E, Mei D, Tattini L, Slavotinek A, Blair E, Barnett C, Shendure J, Chelly J, Dobyns WB, Guerrini R. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. Lancet Neurol. 2015 Dec; 14(12):1182-95. PMID: 26520804; PMCID: PMC4672724 [Available on 12/01/16].
    29. Mitchell E, Douglas A, Kjaegaard S, Callewaert B, Vanlander A, Janssens S, Yuen AL, Skinner C, Failla P, Alberti A, Avola E, Fichera M, Kibaek M, Digilio MC, Hannibal MC, den Hollander NS, Bizzarri V, Renieri A, Mencarelli MA, Fitzgerald T, Piazzolla S, van Oudenhove E, Romano C, Schwartz C, Eichler EE, Slavotinek A, Escobar L, Rajan D, Crolla J, Carter N, Hodge JC, Mefford HC. Recurrent duplications of 17q12 associated with variable phenotypes. Am J Med Genet A. 2015 Dec; 167A(12):3038-45. PMID: 26420380.
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    30. Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Müller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. Am J Med Genet A. 2016 Jan; 170A(1):103-15. PMID: 26373698.
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    31. Gonzaga-Jauregui C, Harel T, Gambin T, Kousi M, Griffin LB, Francescatto L, Ozes B, Karaca E, Jhangiani SN, Bainbridge MN, Lawson KS, Pehlivan D, Okamoto Y, Withers M, Mancias P, Slavotinek A, Reitnauer PJ, Goksungur MT, Shy M, Crawford TO, Koenig M, Willer J, Flores BN, Pediaditrakis I, Us O, Wiszniewski W, Parman Y, Antonellis A, Muzny DM. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 Aug 18; 12(7):1169-83. PMID: 26257172; PMCID: PMC4545408.
    32. Qi Z, Jeng LJ, Slavotinek A, Yu J. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family. BMC Med Genomics. 2015 Jul 15; 8:38. PMID: 26174853; PMCID: PMC4502905.
    33. Tunovic S, Barañano KW, Barkovich JA, Strober JB, Jamal L, Slavotinek A. Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2767-76. PMID: 26174511.
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    34. Wu D, Mandal S, Choi A, Anderson A, Prochazkova M, Perry H, Gil-Da-Silva-Lopes VL, Lao R, Wan E, Tang PL, Kwok PY, Klein O, Zhuan B, Slavotinek A. DLX4 is associated with orofacial clefting and abnormal jaw development. Hum Mol Genet. 2015 Aug 01; 24(15):4340-52. PMID: 25954033; PMCID: PMC4492397.
    35. Zarate YA, Perry H, Ben-Omran T, Sellars EA, Stein Q, Almureikhi M, Simmons K, Klein O, Fish J, Feingold M, Douglas J, Kruer MC, Si Y, Mao R, McKnight D, Gibellini F, Retterer K, Slavotinek A. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet A. 2015 May; 167A(5):1026-32. PMID: 25885067.
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    36. Slavotinek A, Ali M. Recognizable syndromes in the newborn period. Clin Perinatol. 2015 Jun; 42(2):263-80, viii. PMID: 26042904.
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    37. Cafiero C, Marangi G, Orteschi D, Ali M, Asaro A, Ponzi E, Moncada A, Ricciardi S, Murdolo M, Mancano G, Contaldo I, Leuzzi V, Battaglia D, Mercuri E, Slavotinek A, Zollino M. Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome. Eur J Hum Genet. 2015 Nov; 23(11):1499-504. PMID: 25712080; PMCID: PMC4613466 [Available on 10/01/16].
    38. Slavotinek A, Kaylor J, Pierce H, Cahr M, DeWard SJ, Schneidman-Duhovny D, Alsadah A, Salem F, Schmajuk G, Mehta L. CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein. Am J Hum Genet. 2015 Jan 08; 96(1):162-9. PMID: 25557780; PMCID: PMC4289687.
    39. Amann R, Wyder S, Slavotinek A, Trueb B. The FgfrL1 receptor is required for development of slow muscle fibers. Dev Biol. 2014 Oct 15; 394(2):228-41. PMID: 25172430.
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    40. Brady PD, Van Esch H, Fieremans N, Froyen G, Slavotinek A, Deprest J, Devriendt K, Vermeesch JR. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. Eur J Hum Genet. 2015 Apr; 23(4):551-4. PMID: 25026905; PMCID: PMC4666577.
    41. Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. Eur J Hum Genet. 2015 Mar; 23(3):337-41. PMID: 24939590; PMCID: PMC4326713.
    42. Tunovic S, Barkovich J, Sherr EH, Slavotinek A. 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; 164A(7):1744-9. PMID: 24838796.
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    43. Mendelsohn BA, Pronold M, Long R, Smaoui N, Slavotinek A. Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). Am J Med Genet A. 2014 Aug; 164A(8):2079-83. PMID: 24818805.
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    44. Esplin ED, Li B, Slavotinek A, Novelli A, Battaglia A, Clark R, Curry C, Hudgins L. Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies. Am J Med Genet A. 2014 Aug; 164A(8):2097-103. PMID: 24800990.
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    45. Slavotinek A. The genetics of common disorders - congenital diaphragmatic hernia. Eur J Med Genet. 2014 Aug; 57(8):418-23. PMID: 24793812.
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    46. Pua HH, Krishnamurthi S, Farrell J, Margeta M, Ursell PC, Powers M, Slavotinek A, 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. PMID: 24501764.
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    47. Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis. 2013 Apr 27; 8:63. PMID: 23621943; PMCID: PMC3659005.
    48. 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 A. 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. PMID: 23591992; PMCID: PMC3723310.
    49. Li BC, Hogue J, Eilers M, Mehrotra P, Hyland J, Holm T, Prosen T, Slavotinek A. 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. PMID: 23401428.
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    50. 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. PMID: 23401257; PMCID: PMC3581754.
    51. Bermudez-Wagner K, Jeng LJ, Slavotinek A, 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. PMID: 23207424.
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    52. Gardner MA, Li BC, Wu YW, Slavotinek A. Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis. Pediatr Neurol. 2012 Dec; 47(6):455-7. PMID: 23127269.
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    53. 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. PMID: 23165863.
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    54. Slavotinek A, 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. PMID: 23161670; PMCID: PMC3554199.
    55. Hall JG, Allanson JE, Gripp KW, Slavotinek A. Special Section. Syndrome-specific growth charts. Am J Med Genet A. 2012 Nov; 158A(11):2645-6. PMID: 23038170.
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    56. Slavotinek A. A much needed new journal in the field of Pediatric Genetics. J Pediatr Genet. 2012 Mar; 1(1):1-2. PMID: 27625793.
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    57. Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek A. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med Genet. 2011 Dec 28; 12:172. PMID: 22204637; PMCID: PMC3262754.
    58. Slavotinek A, 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. PMID: 22095910; PMCID: PMC3401628.
    59. Mefford HC, Rosenfeld JA, Shur N, Slavotinek A, 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. PMID: 22180641; PMCID: PMC3261729.
    60. Sanford EF, Bermudez-Wagner K, Jeng LJ, Rauen KA, Slavotinek A. 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. PMID: 21965155.
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    61. Slavotinek A. Eye development genes and known syndromes. Mol Genet Metab. 2011 Dec; 104(4):448-56. PMID: 22005280; PMCID: PMC3224152.
    62. 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. PMID: 21525063; PMCID: PMC3227222.
    63. Slavotinek A, 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. PMID: 21507892; PMCID: PMC4294942.
    64. Slavotinek A, 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. PMID: 21480483.
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    65. Slavotinek A, 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. PMID: 21188766.
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    66. Slavotinek A, Beales P. Clinical utility gene card for: Bardet-Biedl syndrome. Eur J Hum Genet. 2011 Mar; 19(3). PMID: 21150877; PMCID: PMC3061994.
    67. Bardakjian TM, Kwok S, Slavotinek A, 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. PMID: 21082658.
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    68. 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. PMID: 20734337.
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    69. 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 May 11; 5(5):e10565. PMID: 20485507; PMCID: PMC2868029.
    70. Peña WA, Slavotinek A, Oberoi S. Saethre-Chotzen syndrome: a case report. Cleft Palate Craniofac J. 2010 May; 47(3):318-21. PMID: 19860490.
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    71. Tao YC, Slavotinek A, 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. PMID: 19860525.
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    72. Zayed H, Chao R, Moshrefi A, Lopezjimenez N, Delaney A, Chen J, Shaw GM, Slavotinek A. 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. PMID: 20358601; PMCID: PMC2922899.
    73. 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. PMID: 20227630.
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    74. LopezJimenez N, Gerber S, Popovici V, Mirza S, Copren K, Ta L, Shaw GM, Trueb B, Slavotinek A. 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. PMID: 20024584; PMCID: PMC2893560.
    75. 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. PMID: 19610084; PMCID: PMC2785435.
    76. Parisi MA, Zayed H, Slavotinek A, 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. PMID: 19449404; PMCID: PMC2692642.
    77. Hsieh EW, Vargervik K, Slavotinek A. Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. Am J Med Genet A. 2008 Sep 15; 146A(18):2337-45. PMID: 18697196.
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    78. Slavotinek A. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet. 2008 Aug; 124(1):1-17. PMID: 18512078.
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    79. Minzer-Conzetti K, Wu E, Vargervik K, Slavotinek A. Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. Clin Dysmorphol. 2008 Jan; 17(1):1-4. PMID: 18049072.
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    80. Slavotinek A, Warmerdam B, Lin AE, Shaw GM. Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies. Am J Med Genet A. 2007 Dec 15; 143A(24):3127-36. PMID: 18008313.
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    81. Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. Am J Med Genet A. 2007 Aug 15; 143A(16):1900-5. PMID: 17632789.
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    82. 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 Med Genet. 2007 Jul 26; 8:48. PMID: 17655765; PMCID: PMC1950490.
    83. Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek A, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC. Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination. Hum Mol Genet. 2007 Jul 15; 16(14):1773-82. PMID: 17517692.
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    84. Slavotinek A. Single gene disorders associated with congenital diaphragmatic hernia. Am J Med Genet C Semin Med Genet. 2007 May 15; 145C(2):172-83. PMID: 17436300.
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    85. Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE. Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Am J Med Genet A. 2007 Apr 15; 143A(8):853-7. PMID: 17352387.
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    86. Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nürnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernández-Martínez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nürnberg P, Reis A, Rauch A. Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet. 2007 Mar; 80(3):550-60. PMID: 17273977; PMCID: PMC1821097.
    87. Martin MM, Lockspieler T, Slavotinek A. Oculo-ectodermal syndrome: is arachnoid cyst a common finding? Clin Dysmorphol. 2007 Jan; 16(1):35-8. PMID: 17159512.
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    88. Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A. 2006 Dec 15; 140(24):2730-41. PMID: 17103451.
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    89. Shieh JT, Swidler P, Martignetti JA, Ramirez MC, Balboni I, Kaplan J, Kennedy J, Abdul-Rahman O, Enns GM, Sandborg C, Slavotinek A, Hoyme HE. Systemic hyalinosis: a distinctive early childhood-onset disorder characterized by mutations in the anthrax toxin receptor 2 gene (ANTRX2). Pediatrics. 2006 Nov; 118(5):e1485-92. PMID: 17043134.
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    90. Han XD, Cox V, Slavotinek A. Atrioventricular block and wiry hair in Teebi hypertelorism syndrome. Am J Med Genet A. 2006 Sep 15; 140(18):1960-4. PMID: 16906548.
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    91. Thomas AC, Cullup T, Norgett EE, Hill T, Barton S, Dale BA, Sprecher E, Sheridan E, Taylor AE, Wilroy RS, DeLozier C, Burrows N, Goodyear H, Fleckman P, Stephens KG, Mehta L, Watson RM, Graham R, Wolf R, Slavotinek A, Martin M, Bourn D, Mein CA, O'Toole EA, Kelsell DP. ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol. 2006 Nov; 126(11):2408-13. PMID: 16902423.
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    92. Slavotinek A, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet. 2006 Sep; 14(9):999-1008. PMID: 16736036.
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    93. Clifton MS, Goldstein RB, Slavotinek A, Norton ME, Lee H, Farrell J, Nobuhara KK. Prenatal diagnosis of familial type I choledochal cyst. Pediatrics. 2006 Mar; 117(3):e596-600. PMID: 16452322.
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    94. Lin AE, Pober BR, Mullen MP, Slavotinek A. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am J Med Genet A. 2005 Dec 15; 139(3):186-93. PMID: 16283673.
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    95. Slavotinek A, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M. Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. Am J Med Genet A. 2005 Oct 01; 138A(2):146-9. PMID: 16114047.
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    96. Slavotinek A, Lee SS, Hamilton SP. A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene. Am J Med Genet A. 2005 Oct 01; 138A(2):89-94. PMID: 16114045.
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    97. Siegel DH, Slavotinek A. Uniparental disomy. Pediatr Dermatol. 2005 Sep-Oct; 22(5):482-7. PMID: 16191008.
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    98. Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek A. Case reports of oculofaciocardiodental syndrome with unusual dental findings. Am J Med Genet A. 2005 Jul 30; 136(3):275-7. PMID: 15957158.
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    99. Slavotinek A, Parisi M, Heike C, Hing A, Huang E. Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors. Am J Med Genet A. 2005 May 15; 135(1):13-20. PMID: 15810008.
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    100. Slavotinek A, Robinson H, Steele MA. Fryns syndrome with osteochondrodysplasia. Am J Med Genet A. 2005 May 01; 134(4):454-6. PMID: 15793837.
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    101. Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol. 2005 Apr; 14(2):93-6. PMID: 15770132.
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    102. Slavotinek A. The genetics of congenital diaphragmatic hernia. Semin Perinatol. 2005 Apr; 29(2):77-85. PMID: 16050525.
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    103. Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet A. 2005 Mar 01; 133A(2):197-201. PMID: 15633176.
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    104. Slavotinek A, Schauer G, Machin G, Dasouki M, Rueda-Pedraza ME, Chiricosta F, Keller R. Fryns syndrome: report of eight new cases. Genet Med. 2005 Jan; 7(1):74-6. PMID: 15654233.
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    105. Slavotinek A, Dutra A, Kpodzo D, Pak E, Nakane T, Turner J, Whiteford M, Biesecker LG, Stratton P. A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? Am J Med Genet A. 2004 Aug 15; 129A(1):69-72. PMID: 15266619.
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    106. Slavotinek A. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A. 2004 Feb 01; 124A(4):427-33. PMID: 14735597.
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    107. Kozma C, Slavotinek A, Meck JM. Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants. Am J Med Genet A. 2004 Jan 15; 124A(2):118-28. PMID: 14699608.
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    108. Slavotinek A, Boles D, Lacbawan F. A female infant with duplication of chromosome 2q33 to 2q37.3. Clin Dysmorphol. 2003 Oct; 12(4):251-6. PMID: 14564213.
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    109. Slavotinek A, Collins MT, Muenke M. Non-syndromic hemihyperplasia in a male and his mother. Am J Med Genet A. 2003 Aug 15; 121A(1):47-51. PMID: 12900901.
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    110. Slavotinek A, Lacbawan F. Large interstitial deletion of chromosome 13q and severe short stature: clinical report and review of the literature. Clin Dysmorphol. 2003 Jul; 12(3):195-6. PMID: 14564160.
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    111. Slavotinek A, Biesecker LG. Genetic modifiers in human development and malformation syndromes, including chaperone proteins. Hum Mol Genet. 2003 Apr 01; 12 Spec No 1:R45-50. PMID: 12668596.
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    112. Slavotinek A, Dubovsky E, Dietz HC, Lacbawan F. Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. Am J Med Genet. 2002 Jul 01; 110(3):283-8. PMID: 12116239.
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