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Anne Slavotinek, MD, PhD

TitleProfessor
SchoolUCSF School of Medicine
DepartmentPediatrics
Address1550 Fourth St
San Francisco CA 94158
Phone415-514-1783
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    Collapse Overview 

    Collapse Research 
    Collapse Research Activities and Funding
    Gene Discovery in Human Anopthalmia/Micropthalmia
    NIH R21EY022779Sep 1, 2012 - Aug 31, 2014
    Role: Principal Investigator
    Anopthalmia Spectrum Disorders
    NIH R21EY019999Aug 1, 2010 - Jul 31, 2013
    Role: Principal Investigator
    Molecular Genetic Analysis of Congenital Diaphragmatic Hernia
    NIH K08HD053476Apr 1, 2007 - Mar 31, 2013
    Role: Principal Investigator
    Genetic analysis of congenital diaphragmatic hernia
    NIH R03HD049411Mar 15, 2005 - Feb 28, 2007
    Role: Principal Investigator
    PEDIATRIC CLINICAL RESEARCH CENTER
    NIH M01RR001271Dec 1, 1981 - Mar 31, 2007
    Role: Co-Investigator

    Collapse ORNG Applications 
    Collapse Websites
    Collapse Clinical Trials

    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. Miranda P, Slavotinek A. Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association. Clin Dysmorphol. 2017 Jan 04. PMID: 28059850.
      View in: PubMed
    2. Slavotinek AM. The Family of Crumbs Genes and Human Disease. Mol Syndromol. 2016 Oct; 7(5):274-281. PMID: 27867342.
      View in: PubMed
    3. Slavotinek A. Molecular Insights into Development in Humans: Studies in Normal Development and Birth Defects. Eur J Hum Genet. 2016 Aug; 24(9):1375. PMID: 27514997.
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    4. Oates A, Brennan J, Slavotinek A, Alsadah A, Chow D, Lee MM, et al. Challenges managing end-stage renal disease and kidney transplantation in a child with MTFMT mutation and moyamoya disease. Pediatr Transplant. 2016 Jul 8. PMID: 27393152.
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    5. 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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    6. Slavotinek A. Clinical care models in the era of next-generation sequencing. Mol Genet Genomic Med. 2016 May; 4(3):239-42. PMID: 27247951.
      View in: PubMed
    7. 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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    8. 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 Apr 28. PMID: 27124788.
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    9. 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 AM. Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016 Oct; 24(10):1436-44. PMID: 27004616.
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    10. Wyszynski DF, Carman WJ, Cantor AB, Graham JM, Kunz LH, Slavotinek AM, Kirby RS, Seeger J. Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura. J Pregnancy. 2016; 2016:8297407. PMID: 27092275.
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    11. 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 May; 146:163-71. PMID: 26995144.
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    12. 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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    13. 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; 167(12):3038-45. PMID: 26420380.
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    14. 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; 170(1):103-15. PMID: 26373698.
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    15. 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, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR. 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 [Available on 08/18/16].
    16. 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; 8:38. PMID: 26174853; PMCID: PMC4502905.
    17. Tunovic S, Barañano KW, Barkovich JA, Strober JB, Jamal L, Slavotinek AM. Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. Am J Med Genet A. 2015 Nov; 167(11):2767-76. PMID: 26174511.
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    18. 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 AM. DLX4 is associated with orofacial clefting and abnormal jaw development. Hum Mol Genet. 2015 Aug 1; 24(15):4340-52. PMID: 25954033; PMCID: PMC4492397 [Available on 08/01/16].
    19. 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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    20. 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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    21. 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 AM, 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 Oct; 23(11):1499-504. PMID: 25712080; PMCID: PMC4613466 [Available on 10/01/16].
    22. Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. Clin Genet. 2015 Nov; 88(5):468-73. PMID: 25457163; PMCID: PMC4452457 [Available on 11/01/16].
    23. 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 8; 96(1):162-9. PMID: 25557780; PMCID: PMC4289687.
    24. Amann R, Wyder S, Slavotinek AM, 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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    25. 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.
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    26. 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 [Available on 03/01/16].
    27. 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; 164A(7):1744-9. PMID: 24838796.
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    28. Mendelsohn BA, Pronold M, Long R, Smaoui N, Slavotinek AM. 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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    29. 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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    30. Slavotinek AM. The genetics of common disorders - congenital diaphragmatic hernia. Eur J Med Genet. 2014 Aug; 57(8):418-23. PMID: 24793812.
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    31. 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. PMID: 24501764.
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    32. 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, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM. The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis. 2013; 8:63. PMID: 23621943; PMCID: PMC3659005.
    33. 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. PMID: 23591992; PMCID: PMC3723310.
    34. Feberwee HE, Feenstra I, Oberoi S, Sama IE, Ockeloen CW, Clum F, Slavotinek A, Kuijpers MA, Dooijes D, Kuijpers-Jagtman AM, Kleefstra T, Carels CE. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome. Clin Genet. 2014 Feb; 85(2):194-7. PMID: 23557072.
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    35. 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. PMID: 23401428.
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    36. 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.
    37. 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. PMID: 23207424.
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    38. 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. PMID: 23278365.
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    39. Gardner MA, Li BC, Wu YW, Slavotinek AM. Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis. Pediatr Neurol. 2012 Dec; 47(6):455-7. PMID: 23127269.
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    40. 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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    41. 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. PMID: 23161670; PMCID: PMC3554199.
    42. 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. PMID: 23038170.
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    43. Slavotinek AM. 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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    44. 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. PMID: 22204637; PMCID: PMC3262754.
    45. 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. PMID: 22095910; PMCID: PMC3401628.
    46. 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. PMID: 22180641; PMCID: PMC3261729.
    47. 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. PMID: 21965155.
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    48. Slavotinek AM. Eye development genes and known syndromes. Mol Genet Metab. 2011 Dec; 104(4):448-56. PMID: 22005280; PMCID: PMC3224152.
    49. 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.
    50. 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. PMID: 21507892; PMCID: PMC4294942.
    51. 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. PMID: 21480483.
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    52. 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. PMID: 21188766.
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    53. Slavotinek A, Beales P. Clinical utility gene card for: Bardet-Biedl syndrome. Eur J Hum Genet. 2011 Mar; 19(3). PMID: 21150877; PMCID: PMC3061994.
    54. 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. PMID: 21082658.
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    55. 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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    56. 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. PMID: 20485507; PMCID: PMC2868029.
    57. 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. PMID: 19860525.
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    58. 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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    59. 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. PMID: 20358601; PMCID: PMC2922899.
    60. 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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    61. 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. PMID: 20024584; PMCID: PMC2893560.
    62. 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.
    63. Narvid J, Gorno-Tempini ML, Slavotinek A, Dearmond SJ, Cha YH, Miller BL, Rankin K. Of brain and bone: the unusual case of Dr. A. Neurocase. 2009 Jun; 15(3):190-205. PMID: 20183548; PMCID: PMC2997763.
    64. 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. PMID: 19449404; PMCID: PMC2692642.
    65. Tan TY, Aftimos S, Worgan L, Susman R, Wilson M, Ghedia S, Kirk EP, Love D, Ronan A, Darmanian A, Slavotinek A, Hogue J, Moeschler JB, Ozmore J, Widmer R, Bruno D, Savarirayan R, Peters G. Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J Med Genet. 2009 Jul; 46(7):480-9. PMID: 19447831.
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    66. Slavotinek AM, Moshrefi A, Lopez Jiminez N, Chao R, Mendell A, Shaw GM, Pennacchio LA, Bates MD. Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia. Clin Genet. 2009 May; 75(5):429-39. PMID: 19459883; PMCID: PMC2874832.
    67. West B, Bove KE, Slavotinek AM. Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. Am J Med Genet A. 2009 Mar; 149A(3):539-42. PMID: 19213032; PMCID: PMC2710449.
    68. Hsieh EW, Vargervik K, Slavotinek AM. 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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    69. Slavotinek AM. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet. 2008 Aug; 124(1):1-17. PMID: 18512078.
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    70. 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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    71. Wu E, Vargevik K, Slavotinek AM. Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Am J Med Genet A. 2007 Dec 15; 143A(24):3069-78. PMID: 17955515.
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    72. Slavotinek AM, 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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    73. Hsieh EW, Yeh RF, Oberoi S, Vargervik K, Slavotinek AM. Cleft lip with or without cleft palate: frequency in different ethnic populations from the UCSF craniofacial clinic. Am J Med Genet A. 2007 Oct 1; 143A(19):2347-51. PMID: 17726687.
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    74. 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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    75. 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; 8:48. PMID: 17655765; PMCID: PMC1950490.
    76. Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, Slavotinek AM. Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients. Eur J Hum Genet. 2007 Sep; 15(9):950-8. PMID: 17568391.
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    77. Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, 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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    78. Slavotinek AM. 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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    79. 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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    80. Skjei KL, Martin MM, Slavotinek AM. KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. Am J Med Genet A. 2007 Feb 1; 143A(3):292-300. PMID: 17230487.
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    81. 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.
    82. Martin MM, Lockspieler T, Slavotinek AM. Oculo-ectodermal syndrome: is arachnoid cyst a common finding? Clin Dysmorphol. 2007 Jan; 16(1):35-8. PMID: 17159512.
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    83. 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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    84. 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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    85. 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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    86. Slavotinek A, Li C, Sherr EH, Chudley AE. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet A. 2006 Sep 15; 140(18):1909-14. PMID: 16894541.
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    87. 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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    88. Slavotinek AM, 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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    89. 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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    90. Lin AE, Pober BR, Mullen MP, Slavotinek AM. 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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    91. Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek AM, Hetts SW, Jeremy RJ, Schilmoeller G, Schilmoeller K, Wakahiro M, Barkovich AJ. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology. 2005 Nov 8; 65(9):1496-8. PMID: 16275846.
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    92. Slavotinek AM, 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 1; 138A(2):146-9. PMID: 16114047.
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    93. 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 1; 138A(2):89-94. PMID: 16114045.
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    94. Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet. 2005 Sep; 42(9):730-6. PMID: 16141010; PMCID: PMC1736126.
    95. Siegel DH, Slavotinek A. Uniparental disomy. Pediatr Dermatol. 2005 Sep-Oct; 22(5):482-7. PMID: 16191008.
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    96. Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM. 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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    97. 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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    98. Slavotinek AM, Robinson H, Steele MA. Fryns syndrome with osteochondrodysplasia. Am J Med Genet A. 2005 May 1; 134(4):454-6. PMID: 15793837.
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    99. 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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    100. Slavotinek AM. The genetics of congenital diaphragmatic hernia. Semin Perinatol. 2005 Apr; 29(2):77-85. PMID: 16050525.
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    101. 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 1; 133A(2):197-201. PMID: 15633176.
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    102. Lee JS, Tartaglia M, Gelb BD, Fridrich K, Sachs S, Stratakis CA, Muenke M, Robey PG, Collins MT, Slavotinek A. Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. J Med Genet. 2005 Feb; 42(2):e11. PMID: 15689434; PMCID: PMC1735986.
    103. Slavotinek AM, 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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    104. Slavotinek AM, 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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    105. Slavotinek AM. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A. 2004 Feb 1; 124A(4):427-33. PMID: 14735597.
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    106. Kozma C, Slavotinek AM, 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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    107. Slavotinek AM, 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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    108. Slavotinek AM, 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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    109. Slavotinek AM, 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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    110. Slavotinek A, Biesecker LG. Genetic modifiers in human development and malformation syndromes, including chaperone proteins. Hum Mol Genet. 2003 Apr 1; 12 Spec No 1:R45-50. PMID: 12668596.
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    111. Slavotinek A, Poyser L, Wallace A, Martin F, Gaunt L, Kingston H. Two unique patients with trisomy 18 mosaicism and molecular marker studies. Am J Med Genet A. 2003 Mar 15; 117A(3):282-8. PMID: 12599194.
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    112. Slavotinek AM, Tifft CJ. Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes. J Med Genet. 2002 Sep; 39(9):623-33. PMID: 12205104; PMCID: PMC1735240.
    113. Slavotinek AM, 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 1; 110(3):283-8. PMID: 12116239.
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    114. Slavotinek AM, Searby C, Al-Gazali L, Hennekam RC, Schrander-Stumpel C, Orcana-Losa M, Pardo-Reoyo S, Cantani A, Kumar D, Capellini Q, Neri G, Zackai E, Biesecker LG. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet. 2002 Jun; 110(6):561-7. PMID: 12107442.
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    115. Slavotinek AM, Biesecker LG. Unfolding the role of chaperones and chaperonins in human disease. Trends Genet. 2001 Sep; 17(9):528-35. PMID: 11525836.
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    116. Slavotinek AM, Biesecker LG. Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. Am J Med Genet. 2000 Nov 27; 95(3):208-15. PMID: 11102925.
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    117. Slavotinek AM, Vacha SJ, Peters KF, Biesecker LG. Sudden death caused by pulmonary thromboembolism in Proteus syndrome. Clin Genet. 2000 Nov; 58(5):386-9. PMID: 11140839.
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    118. Slavotinek A, Kingston H. Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby. J Med Genet. 2000 Oct; 37(10):796-8. PMID: 11183187; PMCID: PMC1757145.
    119. Slavotinek AM, Chen XN, Jackson A, Gaunt L, Campbell A, Clayton-Smith J, Korenberg JR. Partial tetrasomy 21 in a male infant. J Med Genet. 2000 Oct; 37(10):E30. PMID: 11015462; PMCID: PMC1757147.
    120. Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet. 2000 Sep; 26(1):15-6. PMID: 10973238.
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    121. Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet. 2000 May; 25(1):79-82. PMID: 10802661.
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    122. Slavotinek A, Clayton-Smith J. A girl with ectodermal dysplasia, choanal atresia and polysyndactyly. Clin Dysmorphol. 1999 Oct; 8(4):287-9. PMID: 10532179.
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    123. Slavotinek A, Schwarz C, Getty JF, Stecko O, Goodman F, Kingston H. Two cases with interstitial deletions of chromosome 2 and sex reversal in one. Am J Med Genet. 1999 Sep 3; 86(1):75-81. PMID: 10440834.
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    124. Slavotinek A, Shaffer LG, Shapira SK. Monosomy 1p36. J Med Genet. 1999 Sep; 36(9):657-63. PMID: 10507720; PMCID: PMC1734434.
    125. Slavotinek A, Clayton-Smith J. Brachydactyly type B: case report and further evidence for clinical heterogeneity. Clin Dysmorphol. 1999 Jul; 8(3):165-71. PMID: 10457848.
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    126. Slavotinek A, Clayton-Smith J, Kerr B. Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus. Clin Dysmorphol. 1999 Jul; 8(3):223-5. PMID: 10457860.
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    127. Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Biesecker L. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet. 1999 May; 36(5):405-11. PMID: 10353788; PMCID: PMC1734367.
    128. Powell J, Wojnarowska F, Dawber R, Slavotinek A, Huson S. Childhood vulval lichen sclerosus in a patient with ectodermal dysplasia and uncombable hair. Pediatr Dermatol. 1998 Nov-Dec; 15(6):446-9. PMID: 9875967.
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    129. Slavotinek A, Donnai D. A boy with severe manifestations of type A1 brachydactyly. Clin Dysmorphol. 1998 Jan; 7(1):21-7. PMID: 9546826.
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    130. Slavotinek AM, Hurst JA, Dunger D, Wilkie AO. ACTH receptor mutation in a girl with familial glucocorticoid deficiency. Clin Genet. 1998 Jan; 53(1):57-62. PMID: 9550364.
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    131. Slavotinek A, Kingston H. Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions. J Med Genet. 1997 Oct; 34(10):862-5. PMID: 9350824; PMCID: PMC1051098.
    132. Slavotinek A, Maher E, Gregory P, Rowlandson P, Huson SM. The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. J Med Genet. 1997 Oct; 34(10):857-61. PMID: 9350823; PMCID: PMC1051097.
    133. Slavotinek A, Gaunt L, Donnai D. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. J Med Genet. 1997 Oct; 34(10):819-26. PMID: 9350814; PMCID: PMC1051088.
    134. Slavotinek A, Stahlschmidt J, Moore L. Transverse limb defects, holoprosencephaly and neuronal heterotopia--a new syndrome? Clin Dysmorphol. 1997 Oct; 6(4):365-70. PMID: 9354847.
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    135. Slavotinek A, Clayton-Smith J, Super M. Familial patent ductus arteriosus: a further case of CHAR syndrome. Am J Med Genet. 1997 Aug 8; 71(2):229-32. PMID: 9217229.
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    136. Slavotinek AM, Huson SM, Fitchett M. Interstitial deletion of band 3q25. J Med Genet. 1997 May; 34(5):430-2. PMID: 9152845; PMCID: PMC1050955.
    137. Slavotinek A, Sauer-Nehls S, Braselmann H, Taylor GM, Nüsse M. Chromosome painting of radiation-induced micronuclei. Int J Radiat Biol. 1996 Oct; 70(4):393-401. PMID: 8862450.
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    138. Slavotinek A, Hellen E, Gould S, Coghill SB, Huson SM, Hurst JA. Three infants of diabetic mothers with malformations of left-right asymmetry--further evidence for the aetiological role of diabetes in this malformation spectrum. Clin Dysmorphol. 1996 Jul; 5(3):241-7. PMID: 8818453.
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    139. Slavotinek AM, Pike M, Mills K, Hurst JA. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? Am J Med Genet. 1996 Mar 1; 62(1):42-7. PMID: 8779323.
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