Anne Slavotinek, MD, PhD

Title(s)Professor, Pediatrics
SchoolSchool of Medicine
Address1550 Fourth St
San Francisco CA 94158
ORCID ORCID Icon0000-0001-7053-2449 Additional info
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    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 U01HG009599Aug 4, 2017 - May 31, 2022
    Role: Co-Principal Investigator
    Gene Discovery in Human Anopthalmia/Micropthalmia
    NIH R21EY022779Sep 1, 2012 - Aug 31, 2015
    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
    Postdoctoral Training in Medical Genetics
    NIH T32GM007085Jul 1, 1975 - Jun 30, 2015
    Role: Principal Investigator

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    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. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Preference for secondary findings in prenatal and pediatric exome sequencing. Prenat Diagn. 2021 May 31. Swanson K, Sparks TN, Lianoglou BR, Chen F, Downum S, Patel S, Rego S, Yip T, Van Ziffle J, Koenig BA, Slavotinek AM, Norton ME. PMID: 34057224.
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    2. Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. Genet Med. 2021 May 26. Rossignol F, Duarte Moreno MS, Benoist JF, Boehm M, Bourrat E, Cano A, Chabrol B, Cosson C, Díaz JLD, D'Harlingue A, Dimmock D, Freeman AF, García MT, Garganta C, Goerge T, Halbach SS, de Laffolie J, Lam CT, Martin L, Martins E, Meinhardt A, Melki I, Ombrello AK, Pérez N, Quelhas D, Scott A, Slavotinek AM, Soares AR, Stein SL, Süßmuth K, Thies J, Ferreira CR, Schiff M. PMID: 34040193.
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    3. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021 May 21; 13(1):90. Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, Baynam G, Bearden D, Beleza-Meireles A, Benke PJ, Berland S, Bierhals T, Bilan F, Bindoff LA, Braathen GJ, Busk ØL, Chenbhanich J, Denecke J, Escobar LF, Estes C, Fleischer J, Groepper D, Haaxma CA, Hempel M, Holler-Managan Y, Houge G, Jackson A, Kellogg L, Keren B, Kiraly-Borri C, Kraus C, Kubisch C, Le Guyader G, Ljungblad UW, Brenman LM, Martinez-Agosto JA, Might M, Miller DT, Minks KQ, Moghaddam B, Nava C, Nelson SF, Parant JM, Prescott T, Rajabi F, Randrianaivo H, Reiter SF, Schuurs-Hoeijmakers J, Shieh PB, Slavotinek A, Smithson S, Stegmann APA, Tomczak K, Tveten K, Wang J, Whitlock JH, Zweier C, McWalter K, Juusola J, Quintero-Rivera F, Fischer U, Yeo NC, Kreienkamp HJ, Lessel D. PMID: 34020708.
      View in: PubMed   Mentions: 1     Fields:    
    4. New Cases that Expand the Genotypic and Phenotypic Spectrum of Congenital NAD Deficiency Disorder. Hum Mutat. 2021 May 03. Szot JO, Slavotinek A, Chong K, Brandau O, Nezarati M, Cueto-González AM, Patel MS, Devine WP, Rego S, Acyinena AP, Shannon P, Myles-Reid D, Blaser S, Mieghem TV, Yavuz-Kienle H, Skladny H, Miller K, Riera MDT, Martínez SA, Tizzano EF, Dupuis L, James Stavropoulos D, McNiven V, Mendoza-Londono R, Elliott AM, Study TC, Phillips RS, Chapman G, Dunwoodie SL. PMID: 33942433.
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    5. Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results. Clin Genet. 2021 May; 99(5):638-649. Donohue KE, Gooch C, Katz A, Wakelee J, Slavotinek A, Korf BR. PMID: 33818754.
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    6. PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY. Retin Cases Brief Rep. 2021 May 01; 15(3):324-329. Flores Pimentel MA, De la Huerta I, Duncan JL, Slavotinek AM, Moore AT, de Alba Campomanes AG. PMID: 30074570.
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    7. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 Apr 21. Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A, CAUSES Study , Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J, Genomics England Research Consortium , Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. PMID: 33909992.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    8. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 Apr 19. Rots D, Chater-Diehl E, Dingemans AJM, Goodman SJ, Siu MT, Cytrynbaum C, Choufani S, Hoang N, Walker S, Awamleh Z, Charkow J, Meyn S, Pfundt R, Rinne T, Gardeitchik T, de Vries BBA, Deden AC, Leenders E, Kwint M, Stumpel CTRM, Stevens SJC, Vermeulen JR, van Harssel JVT, Bosch DGM, van Gassen KLI, van Binsbergen E, de Geus CM, Brackel H, Hempel M, Lessel D, Denecke J, Slavotinek A, Strober J, Crunk A, Folk L, Wentzensen IM, Yang H, Zou F, Millan F, Person R, Xie Y, Liu S, Ousager LB, Larsen M, Schultz-Rogers L, Morava E, Klee EW, Berry IR, Campbell J, Lindstrom K, Pruniski B, Neumeyer AM, Radley JA, Phornphutkul C, Schmidt B, Wilson WG, Õunap K, Reinson K, Pajusalu S, van Haeringen A, Ruivenkamp C, Cuperus R, Santos-Simarro F, Palomares-Bralo M, Pacio-Míguez M, Ritter A, Bhoj E, Tønne E, Tveten K, Cappuccio G, Brunetti-Pierri N, Rowe L, Bunn J, Saenz M, Platzer K, Mertens M, Caluseriu O, Nowaczyk MJM, Cohn RD, Kannu P, Alkhunaizi E, Chitayat D, Scherer SW, Brunner HG, Vissers LELM, Kleefstra T, Koolen DA, Weksberg R. PMID: 33909990.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    9. Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics). Genet Med. 2021 Apr 06. Nisselle A, Janinski M, Martyn M, McClaren B, Kaunein N, Reporting Item Standards for Education and its Evaluation in Genomics Expert Group , Barlow-Stewart K, Belcher A, Bernat JA, Best S, Bishop M, Carroll JC, Cornel M, Dissanayake VHW, Dodds A, Dunlop K, Garg G, Gear R, Graves D, Knight K, Korf B, Kumar D, Laurino M, Ma A, Maguire J, Mallett A, McCarthy M, McEwen A, Mulder N, Patel C, Quinlan C, Reed K, Riggs ER, Sinnerbrink I, Slavotinek A, Suppiah V, Terrill B, Tobias ES, Tonkin E, Trumble S, Wessels TM, Metcalfe S, Jordan H, Gaff C. PMID: 33824503.
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    10. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 Mar 30. Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. PMID: 33783954.
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    11. Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. Clin Genet. 2021 Jul; 100(1):93-99. Mardy AH, Hodoglugil U, Yip T, Slavotinek AM. PMID: 33748949.
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    12. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Mar 08. Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Care4Rare Canada Consortium , Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. PMID: 33686260.
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    13. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021 Feb 18. Whalen S, Shaw M, Mignot C, Héron D, Bastaraud SC, Walti CC, Liebelt J, Elmslie F, Yap P, Hurst J, Forsythe E, Kirmse B, Ozmore J, Spinelli AM, Calabrese O, de Villemeur TB, Tabet AC, Levy J, Guet A, Kossorotoff M, Kamien B, Morton J, McCabe A, Brischoux-Boucher E, Raas-Rothschild A, Pini A, Carroll R, Hartley JN, Care4Rare Canada Consortium , Frosk P, Slavotinek A, Truxal K, Jennifer C, Dheedene A, Cui H, Kumar V, Thomson G, Riccardi F, Gecz J, Villard L. PMID: 33603160.
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    14. A dyadic approach to the delineation of diagnostic entities in clinical genomics. Am J Hum Genet. 2021 01 07; 108(1):8-15. Biesecker LG, Adam MP, Alkuraya FS, Amemiya AR, Bamshad MJ, Beck AE, Bennett JT, Bird LM, Carey JC, Chung B, Clark RD, Cox TC, Curry C, Dinulos MBP, Dobyns WB, Giampietro PF, Girisha KM, Glass IA, Graham JM, Gripp KW, Haldeman-Englert CR, Hall BD, Innes AM, Kalish JM, Keppler-Noreuil KM, Kosaki K, Kozel BA, Mirzaa GM, Mulvihill JJ, Nowaczyk MJM, Pagon RA, Retterer K, Rope AF, Sanchez-Lara PA, Seaver LH, Shieh JT, Slavotinek AM, Sobering AK, Stevens CA, Stevenson DA, Tan TY, Tan WH, Tsai AC, Weaver DD, Williams MS, Zackai E, Zarate YA. PMID: 33417889.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    15. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 04; 23(4):653-660. Klöckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, Bonfert MV, Bönnemann CG, Brilstra EH, Care4Rare Canada Consortium , Chung WK, Clarke AJ, Devine P, Donkervoort S, Fraser JL, Friedman J, Gates A, Ghoumid J, Hobson E, Horvath G, Keller-Ramey J, Keren B, Kurian MA, Lee V, Leppig KA, Lundgren J, McDonald MT, McLaughlin HM, McTague A, Mefford HC, Mignot C, Mikati MA, Nava C, Raymond FL, Sampson JR, Sanchis-Juan A, Shashi V, Shieh JTC, Shinawi M, Slavotinek A, Stödberg T, Stong N, Sullivan JA, Taylor AC, Toler TL, van den Boogaard MJ, van der Crabben SN, van Gassen KLI, van Jaarsveld RH, Van Ziffle J, Wadley AF, Wagner M, Wigby K, Wortmann SB, Zarate YA, Møller RS, Lemke JR, Platzer K. PMID: 33299146.
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    16. Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome. Laryngoscope. 2021 06; 131(6):E2053-E2059. Brodie KD, Moore AT, Slavotinek AM, Meyer AK, Nadaraja GS, Conrad DE, Weinstein JE, Chan DK. PMID: 33111992.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    17. Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis. N Engl J Med. 2020 10 29; 383(18):1746-1756. Sparks TN, Lianoglou BR, Adami RR, Pluym ID, Holliman K, Duffy J, Downum SL, Patel S, Faubel A, Boe NM, Field NT, Murphy A, Laurent LC, Jolley J, Uy C, Slavotinek AM, Devine P, Hodoglugil U, Van Ziffle J, Sanders SJ, MacKenzie TC, Norton ME, University of California Fetal–Maternal Consortium , University of California, San Francisco Center for Maternal–Fetal Precision Medicine . PMID: 33027564.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    18. The expanding spectrum of NFIB-associated phenotypes in a diverse patient population-A report of two new patients. Am J Med Genet A. 2020 12; 182(12):2959-2963. Barrus K, Rego S, Yip T, Martin PM, Glen OA, Van Ziffle J, Slavotinek AM. PMID: 32902921.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    19. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population. Clin Genet. 2020 11; 98(5):499-506. Islam F, Htun S, Lai LW, Krall M, Poranki M, Martin PM, Sobreira N, Wohler ES, Yu J, Moore AT, Slavotinek AM. PMID: 32799327.
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    20. Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. Hum Mol Genet. 2020 08 03; 29(13):2218-2239. Slavotinek A, Misceo D, Htun S, Mathisen L, Frengen E, Foreman M, Hurtig JE, Enyenihi L, Sterrett MC, Leung SW, Schneidman-Duhovny D, Estrada-Veras J, Duncan JL, Haaxma CA, Kamsteeg EJ, Xia V, Beleford D, Si Y, Douglas G, Treidene HE, van Hoof A, Fasken MB, Corbett AH. PMID: 32504085.
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    21. Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech. Am J Med Genet A. 2020 09; 182(9):2003-2004. Solomon BD, Slavotinek AM. PMID: 32700360.
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    22. A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability. Eur J Med Genet. 2020 Sep; 63(9):103969. Beleford DT, Van Ziffle J, Hodoglugil U, Slavotinek AM. PMID: 32534219.
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    23. Going forward in a new world. Am J Med Genet A. 2020 07; 182(7):1553-1554. Slavotinek AM, Solomon BD. PMID: 32519470.
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    24. Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings. Am J Med Genet A. 2020 08; 182(8):1923-1932. Hampshire K, Martin PM, Carlston C, Slavotinek A. PMID: 32506774.
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    25. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 10; 22(10):1682-1693. Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. PMID: 32475986.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    26. Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Hum Mol Genet. 2020 05 08; 29(7):1068-1082. Alankarage D, Szot JO, Pachter N, Slavotinek A, Selleri L, Shieh JT, Winlaw D, Giannoulatou E, Chapman G, Dunwoodie SL. PMID: 31625560.
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    27. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 07; 22(7):1215-1226. Castilla-Vallmanya L, Selmer KK, Dimartino C, Rabionet R, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium , Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg D, Amiel J, Urreizti R, Gordon CT. PMID: 32376980.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    28. Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. J Hum Genet. 2020 May; 65(5):487-491. Zazo-Seco C, Plaisancié J, Bitoun P, Corton M, Arteche A, Ayuso C, Schneider A, Zafeiropoulou D, Gilissen C, Roche O, Frémont F, Calvas P, Slavotinek A, Ragge N, Chassaing N. PMID: 32015378.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCTClinical Trials
    29. Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures. Eur J Med Genet. 2020 Apr; 63(4):103850. Slavotinek A, van Hagen JM, Kalsner L, Pai S, Davis-Keppen L, Ohden L, Weber YG, Macke EL, Klee EW, Morava E, Gunderson L, Person R, Liu S, Weiss M. PMID: 31954878.
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    30. A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy. Am J Med Genet A. 2020 03; 182(3):513-520. Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM. PMID: 31880405.
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    31. Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS). Genet Med. 2020 02; 22(2):283-291. Trosman JR, Weldon CB, Slavotinek A, Norton ME, Douglas MP, Phillips KA. PMID: 31501586.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansCells
    32. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 Sep 05; 105(3):672-674. Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Undiagnosed Diseases Network , Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. PMID: 31491411.
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    33. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. . 2019 11; 179(11):2190-2195. Darras N, Ha TK, Rego S, Martin PM, Barroso E, Slavotinek AM, Cilio MR. PMID: 31465153.
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    34. TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. Mol Genet Genomic Med. 2019 09; 7(9):e818. Balkin DM, Poranki M, Forester CM, Dorsey MJ, Slavotinek A, Pomerantz JH. PMID: 31350873.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    35. Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders. Am J Hum Genet. 2019 09 05; 105(3):631-639. Fischer-Zirnsak B, Segebrecht L, Schubach M, Charles P, Alderman E, Brown K, Cadieux-Dion M, Cartwright T, Chen Y, Costin C, Fehr S, Fitzgerald KM, Fleming E, Foss K, Ha T, Hildebrand G, Horn D, Liu S, Marco EJ, McDonald M, McWalter K, Race S, Rush ET, Si Y, Saunders C, Slavotinek A, Stockler-Ipsiroglu S, Telegrafi A, Thiffault I, Torti E, Tsai AC, Wang X, Zafar M, Keren B, Kornak U, Boerkoel CF, Mirzaa G, Ehmke N. PMID: 31353024.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    36. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424. Kanca O, Andrews JC, Lee PT, Patel C, Braddock SR, Slavotinek AM, Cohen JS, Gubbels CS, Aldinger KA, Williams J, Indaram M, Fatemi A, Yu TW, Agrawal PB, Vezina G, Simons C, Crawford J, Lau CC, Undiagnosed Diseases Network , Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. PMID: 31327508.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    37. Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip. Cleft Palate Craniofac J. 2020 01; 57(1):132-136. Ko J, Pomerantz JH, Perry H, Shieh JT, Slavotinek AM, Oberoi S, Klein OD. PMID: 31248274.
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    38. The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. Am J Hum Genet. 2019 06 06; 104(6):1088-1096. Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, Bonham VL, Cameron LD, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hindorff LA, Jarvik GP, Kaufman D, Kenny EE, Knight SJ, Koenig BA, Korf BR, Madden E, McGuire AL, Ou J, Wasserstein MP, Robinson M, Leventhal H, Sanderson SC. PMID: 31104772.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    39. Use of PTC124 for nonsense suppression therapy targeting BMP4 nonsense variants in vitro and the bmp4st72 allele in zebrafish. PLoS One. 2019; 14(4):e0212121. Krall M, Htun S, Slavotinek A. PMID: 31017898.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    40. Introducing in AJMG Part A: Genetic Syndromes in Adults. . 2019 08; 179(8):1413-1414. Slavotinek AM, Muenke M. PMID: 30912611.
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    41. NAA10 polyadenylation signal variants cause syndromic microphthalmia. J Med Genet. 2019 07; 56(7):444-452. Johnston JJ, Williamson KA, Chou CM, Sapp JC, Ansari M, Chapman HM, Cooper DN, Dabir T, Dudley JN, Holt RJ, Ragge NK, Schäffer AA, Sen SK, Slavotinek AM, FitzPatrick DR, Glaser TM, Stewart F, Black GC, Biesecker LG. PMID: 30842225.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    42. Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies. Eur J Hum Genet. 2019 Apr; 27(4):582-593. Krall M, Htun S, Schnur RE, Brooks AS, Baker L, de Alba Campomanes A, Lamont RE, Gripp KW, Care 4 Rare Canada Consortium , Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM. PMID: 30622326.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    43. Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group. Hum Mutat. 2018 11; 39(11):1677-1685. Webber EM, Hunter JE, Biesecker LG, Buchanan AH, Clarke EV, Currey E, Dagan-Rosenfeld O, Lee K, Lindor NM, Martin CL, Milosavljevic A, Mittendorf KF, Muessig KR, O'Daniel JM, Patel RY, Ramos EM, Rego S, Slavotinek AM, Sobriera NLM, Weaver MA, Williams MS, Evans JP, Goddard KAB, ClinGen Resource . PMID: 30311382.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    44. Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. . 2018 12; 176(12):2877-2881. Abu-El-Haija A, Fineman J, Connolly AJ, Murali P, Judge LM, Slavotinek AM. PMID: 30380203.
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    45. Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia. Hum Genet. 2019 Sep; 138(8-9):831-846. Slavotinek A. PMID: 30374660.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimals
    46. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Oct; 5(10):1277-1285. Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC, Undiagnosed Diseases Network , Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P. PMID: 30349862.
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    47. The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. Am J Hum Genet. 2018 09 06; 103(3):319-327. Amendola LM, Berg JS, Horowitz CR, Angelo F, Bensen JT, Biesecker BB, Biesecker LG, Cooper GM, East K, Filipski K, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hassmiller-Lich K, Joseph G, Kenny EE, Koenig BA, Knight S, Kwok PY, Lewis KL, McGuire AL, Norton ME, Ou J, Parsons DW, Powell BC, Risch N, Robinson M, Rini C, Scollon S, Slavotinek AM, Veenstra DL, Wasserstein MP, Wilfond BS, Hindorff LA, CSER consortium , Plon SE, Jarvik GP. PMID: 30193136.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    48. Early inspirations from times gone by. . 2018 Sep; 176(9):1797-1798. Slavotinek A, Solomon BD, Muenke M. PMID: 30063092.
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    49. Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited. Genet Med. 2019 01; 21(1):152-160. Douglas MP, Parker SL, Trosman JR, Slavotinek AM, Phillips KA. PMID: 29997388.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    50. Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). . 2018 04; 176(4):997-1000. Hirabayashi KE, Moore AT, Mendelsohn BA, Taft RJ, Chawla A, Perry D, Henry D, Slavotinek A. PMID: 29575628.
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    51. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. . 2018 04; 176(4):925-935. 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. PMID: 29436146.
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    52. Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. Eur J Hum Genet. 2018 02; 26(2):210-219. 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. PMID: 29348693.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansAnimalsCells
    53. Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects. Hum Mutat. 2018 04; 39(4):471-494. Anand D, Agrawal SA, Slavotinek A, Lachke SA. PMID: 29314435.
      View in: PubMed   Mentions: 13     Fields:    Translation:HumansAnimals
    54. 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 12 15; 26(24):4849-4860. 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. PMID: 29036646.
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    55. Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. . 2017 Nov; 173(11):3075-3081. Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek AM. PMID: 28960803.
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    56. A randomized controlled trial of levodopa in patients with Angelman syndrome. . 2018 05; 176(5):1099-1107. 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. PMID: 28944563.
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    57. HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia. . 2017 Nov; 173(11):3070-3074. Farrell SA, Sodhi S, Marshall CR, Guerin A, Slavotinek A, Paton T, Chong K, Sirkin WL, Scherer SW, Bérubé-Simard FA, Pilon N. PMID: 28898547.
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    58. Characterization of a variant of gap junction protein a8 identified in a family with hereditary cataract. PLoS One. 2017; 12(8):e0183438. Kuo DS, Sokol JT, Minogue PJ, Berthoud VM, Slavotinek AM, Beyer EC, Gould DB. PMID: 28827829.
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    59. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. Eur J Med Genet. 2017 Oct; 60(10):504-508. Slavotinek A, Pua H, Hodoglugil U, Abadie J, Shieh J, Van Ziffle J, Kvale M, Lee H, Kwok PY, Risch N, Sabbadini M. PMID: 28687524.
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    60. DNM1 encephalopathy: A new disease of vesicle fission. Neurology. 2017 Jul 25; 89(4):385-394. 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, Epi4K Consortium , EuroEPINOMICS-RES NLES Working Group . PMID: 28667181.
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    61. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. J Med Genet. 2017 09; 54(9):585-590. Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. PMID: 28663233.
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    62. 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. Bardakjian T, Krall M, Wu D, Lao R, Tang PL, Wan E, Kopinsky S, Schneider A, Kwok PY, Slavotinek A. PMID: 29260090.
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    63. Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. . 2017 Aug; 173(8):2275-2279. Alhariri A, Hamilton K, Oza V, Cordoro K, Sobreira NL, Malloy M, Slavotinek A. PMID: 28590052.
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    64. Jejunal atresia and unilateral postaxial polydactyly: second report of a rare association. Clin Dysmorphol. 2017 Apr; 26(2):132-133. Miranda P, Slavotinek A. PMID: 28059850.
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    65. Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1. Ophthalmic Genet. 2017 12; 38(6):559-561. Oatts JT, Duncan JL, Hoyt CS, Slavotinek AM, Moore AT. PMID: 28635423.
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    66. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. J Exp Med. 2017 03 06; 214(3):623-637. 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. PMID: 28148688.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    67. The Family of Crumbs Genes and Human Disease. Mol Syndromol. 2016 Oct; 7(5):274-281. Slavotinek AM. PMID: 27867342.
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    68. 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. Oates A, Brennan J, Slavotinek A, Alsadah A, Chow D, Lee MM. PMID: 27393152.
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    69. Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. . 2016 10; 170(10):2711-8. Arunrut T, Sabbadini M, Jain M, Machol K, Scaglia F, Slavotinek A. PMID: 27320698.
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    70. Clinical care models in the era of next-generation sequencing. Mol Genet Genomic Med. 2016 May; 4(3):239-42. Slavotinek A. PMID: 27247951.
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    71. An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3). . 2016 07; 170(7):1918-23. Dimitri P, De Franco E, Habeb AM, Gurbuz F, Moussa K, Taha D, Wales JK, Hogue J, Slavotinek A, Shetty A, Balasubramanian M. PMID: 27148679.
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    72. A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation. Genet Med. 2016 12; 18(12):1258-1268. 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. PMID: 27124788.
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    73. Expansion of phenotype and genotypic data in CRB2-related syndrome. Eur J Hum Genet. 2016 10; 24(10):1436-44. 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. PMID: 27004616.
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    74. Pregnancy and Birth Outcomes among Women with Idiopathic Thrombocytopenic Purpura. J Pregnancy. 2016; 2016:8297407. Wyszynski DF, Carman WJ, Cantor AB, Graham JM, Kunz LH, Slavotinek AM, Kirby RS, Seeger J. PMID: 27092275.
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    75. Genetic analysis of consanguineous families presenting with congenital ocular defects. Exp Eye Res. 2016 05; 146:163-171. 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. PMID: 26995144.
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    76. Pregnancy outcomes following exposure to onabotulinumtoxinA. Pharmacoepidemiol Drug Saf. 2016 Feb; 25(2):179-87. Brin MF, Kirby RS, Slavotinek A, Miller-Messana MA, Parker L, Yushmanova I, Yang H. PMID: 26635276.
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    77. 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. 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. PMID: 26520804.
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    78. Recurrent duplications of 17q12 associated with variable phenotypes. . 2015 Dec; 167A(12):3038-45. 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. PMID: 26420380.
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    79. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. . 2016 Jan; 170A(1):103-15. 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. PMID: 26373698.
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    80. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. Cell Rep. 2015 Aug 18; 12(7):1169-83. 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, Baylor-Hopkins Center for Mendelian Genomics , Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR. PMID: 26257172.
      View in: PubMed   Mentions: 89     Fields:    Translation:HumansAnimals
    81. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family. BMC Med Genomics. 2015 Jul 15; 8:38. Qi Z, Jeng LJ, Slavotinek A, Yu J. PMID: 26174853.
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    82. Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. . 2015 Nov; 167A(11):2767-76. Tunovic S, Barañano KW, Barkovich JA, Strober JB, Jamal L, Slavotinek AM. PMID: 26174511.
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    83. DLX4 is associated with orofacial clefting and abnormal jaw development. Hum Mol Genet. 2015 Aug 01; 24(15):4340-52. 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. PMID: 25954033.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    84. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. . 2015 May; 167A(5):1026-32. 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. PMID: 25885067.
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    85. Recognizable syndromes in the newborn period. Clin Perinatol. 2015 Jun; 42(2):263-80, viii. Slavotinek A, Ali M. PMID: 26042904.
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    86. 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. 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. PMID: 25712080.
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    87. 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. Slavotinek A, Kaylor J, Pierce H, Cahr M, DeWard SJ, Schneidman-Duhovny D, Alsadah A, Salem F, Schmajuk G, Mehta L. PMID: 25557780.
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    88. The FgfrL1 receptor is required for development of slow muscle fibers. Dev Biol. 2014 Oct 15; 394(2):228-41. Amann R, Wyder S, Slavotinek AM, Trueb B. PMID: 25172430.
      View in: PubMed   Mentions: 10     Fields:    Translation:AnimalsCells
    89. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia. Eur J Hum Genet. 2015 Apr; 23(4):551-4. Brady PD, Van Esch H, Fieremans N, Froyen G, Slavotinek A, Deprest J, Devriendt K, Vermeesch JR. PMID: 25026905.
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    90. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. Eur J Hum Genet. 2015 Mar; 23(3):337-41. Choi A, Lao R, Ling-Fung Tang P, Wan E, Mayer W, Bardakjian T, Shaw GM, Kwok PY, Schneider A, Slavotinek A. PMID: 24939590.
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    91. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. . 2014 Jul; 164A(7):1744-9. Tunovic S, Barkovich J, Sherr EH, Slavotinek AM. PMID: 24838796.
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    92. Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). . 2014 Aug; 164A(8):2079-83. Mendelsohn BA, Pronold M, Long R, Smaoui N, Slavotinek AM. PMID: 24818805.
      View in: PubMed   Mentions:
    93. Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies. . 2014 Aug; 164A(8):2097-103. Esplin ED, Li B, Slavotinek A, Novelli A, Battaglia A, Clark R, Curry C, Hudgins L. PMID: 24800990.
      View in: PubMed   Mentions:
    94. The genetics of common disorders - congenital diaphragmatic hernia. Eur J Med Genet. 2014 Aug; 57(8):418-23. Slavotinek AM. PMID: 24793812.
      View in: PubMed   Mentions: 12     Fields:    Translation:HumansAnimals
    95. Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. . 2014 Jan; 164A(1):237-42. Pua HH, Krishnamurthi S, Farrell J, Margeta M, Ursell PC, Powers M, Slavotinek AM, Jeng LJ. PMID: 24501764.
      View in: PubMed   Mentions:
    96. 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. 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, FORGE Canada Consortium , White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM. PMID: 23621943.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    97. 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. 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. PMID: 23591992.
      View in: PubMed   Mentions: 29     Fields:    Translation:HumansAnimals
    98. Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. . 2013 Mar; 161A(3):619-25. Li BC, Hogue J, Eilers M, Mehrotra P, Hyland J, Holm T, Prosen T, Slavotinek AM. PMID: 23401428.
      View in: PubMed   Mentions:
    99. 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. Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A. PMID: 23401257.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    100. 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. Bermudez-Wagner K, Jeng LJ, Slavotinek AM, Sanford EF. PMID: 23207424.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    101. Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis. Pediatr Neurol. 2012 Dec; 47(6):455-7. Gardner MA, Li BC, Wu YW, Slavotinek AM. PMID: 23127269.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    102. Congenital high airway obstruction sequence (CHAOS): a new case and a review of phenotypic features. . 2012 Dec; 158A(12):3126-36. Sanford E, Saadai P, Lee H, Slavotinek A. PMID: 23165863.
      View in: PubMed   Mentions:
    103. Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet. 2013 Feb 15; 22(4):696-703. 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. PMID: 23161670.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansAnimalsCells
    104. Special Section. Syndrome-specific growth charts. . 2012 Nov; 158A(11):2645-6. Hall JG, Allanson JE, Gripp KW, Slavotinek AM. PMID: 23038170.
      View in: PubMed   Mentions:
    105. A much needed new journal in the field of Pediatric Genetics. J Pediatr Genet. 2012 Mar; 1(1):1-2. Slavotinek AM. PMID: 27625793.
      View in: PubMed   Mentions:
    106. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations. BMC Med Genet. 2011 Dec 28; 12:172. Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM. PMID: 22204637.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    107. 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. Slavotinek AM, Chao R, Vacik T, Yahyavi M, Abouzeid H, Bardakjian T, Schneider A, Shaw G, Sherr EH, Lemke G, Youssef M, Schorderet DF. PMID: 22095910.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    108. Further clinical and molecular delineation of the 15q24 microdeletion syndrome. J Med Genet. 2012 Feb; 49(2):110-8. 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. PMID: 22180641.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    109. Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. . 2011 Nov; 155A(11):2816-20. Sanford EF, Bermudez-Wagner K, Jeng LJ, Rauen KA, Slavotinek AM. PMID: 21965155.
      View in: PubMed   Mentions:
    110. Eye development genes and known syndromes. Mol Genet Metab. 2011 Dec; 104(4):448-56. Slavotinek AM. PMID: 22005280.
      View in: PubMed   Mentions: 38     Fields:    Translation:HumansAnimals
    111. Genomic alterations that contribute to the development of isolated and non-isolated congenital diaphragmatic hernia. J Med Genet. 2011 May; 48(5):299-307. 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. PMID: 21525063.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    112. Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet. 2011 Jun; 48(6):375-82. 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. PMID: 21507892.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansAnimalsCells
    113. A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation. . 2011 May; 155A(5):1196-201. Slavotinek AM, Rosenfeld JA, Chao R, Niyazov D, Eswara M, Bader PI, Stockton DW, Stankiewicz P, Adam MP. PMID: 21480483.
      View in: PubMed   Mentions:
    114. 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. Slavotinek AM, Vargervik K. PMID: 21188766.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    115. Clinical utility gene card for: Bardet-Biedl syndrome. Eur J Hum Genet. 2011 Mar; 19(3). Slavotinek A, Beales P. PMID: 21150877.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    116. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. . 2010 Dec; 152A(12):3120-3. Bardakjian TM, Kwok S, Slavotinek AM, Schneider AS. PMID: 21082658.
      View in: PubMed   Mentions:
    117. A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. . 2010 Oct; 152A(10):2574-7. Hogue J, Shankar S, Perry H, Patel R, Vargervik K, Slavotinek A. PMID: 20734337.
      View in: PubMed   Mentions:
    118. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One. 2010 May 11; 5(5):e10565. 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. PMID: 20485507.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansAnimalsCells
    119. Saethre-Chotzen syndrome: a case report. Cleft Palate Craniofac J. 2010 May; 47(3):318-21. Peña WA, Slavotinek A, Oberoi S. PMID: 19860490.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    120. 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. Tao YC, Slavotinek AM, Vargervik K, Oberoi S. PMID: 19860525.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    121. 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. . 2010 Apr; 152A(4):916-23. Zayed H, Chao R, Moshrefi A, Lopezjimenez N, Delaney A, Chen J, Shaw GM, Slavotinek AM. PMID: 20358601.
      View in: PubMed   Mentions:
    122. 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. Lin P, Shankar SP, Duncan J, Slavotinek A, Stone EM, Rutar T. PMID: 20227630.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    123. 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. LopezJimenez N, Gerber S, Popovici V, Mirza S, Copren K, Ta L, Shaw GM, Trueb B, Slavotinek AM. PMID: 20024584.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    124. Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. . 2009 Aug; 149A(8):1814-7. Slavotinek A, Crawford H, Golabi M, Tao C, Perry H, Oberoi S, Vargervik K, Friez M. PMID: 19610084.
      View in: PubMed   Mentions:
    125. Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects? . 2009 Jun; 149A(6):1237-40. Parisi MA, Zayed H, Slavotinek AM, Rutledge JC. PMID: 19449404.
      View in: PubMed   Mentions:
    126. Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. . 2008 Sep 15; 146A(18):2337-45. Hsieh EW, Vargervik K, Slavotinek AM. PMID: 18697196.
      View in: PubMed   Mentions:
    127. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet. 2008 Aug; 124(1):1-17. Slavotinek AM. PMID: 18512078.
      View in: PubMed   Mentions: 50     Fields:    Translation:HumansCells
    128. Phenotypic variation in trismus-pseudocamptodactyly syndrome caused by a recurrent MYH8 mutation. Clin Dysmorphol. 2008 Jan; 17(1):1-4. Minzer-Conzetti K, Wu E, Vargervik K, Slavotinek A. PMID: 18049072.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    129. Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies. . 2007 Dec 15; 143A(24):3127-36. Slavotinek AM, Warmerdam B, Lin AE, Shaw GM. PMID: 18008313.
      View in: PubMed   Mentions:
    130. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. . 2007 Aug 15; 143A(16):1900-5. Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. PMID: 17632789.
      View in: PubMed   Mentions:
    131. 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. Kumar RA, Everman DB, Morgan CT, Slavotinek A, Schwartz CE, Simpson EM. PMID: 17655765.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    132. 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. Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC. PMID: 17517692.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansAnimalsCells
    133. Single gene disorders associated with congenital diaphragmatic hernia. Am J Med Genet C Semin Med Genet. 2007 May 15; 145C(2):172-83. Slavotinek AM. PMID: 17436300.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimals
    134. Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. . 2007 Apr 15; 143A(8):853-7. Li C, Marles SL, Greenberg CR, Chodirker BN, van de Kamp J, Slavotinek A, Chudley AE. PMID: 17352387.
      View in: PubMed   Mentions:
    135. 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. 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. PMID: 17273977.
      View in: PubMed   Mentions: 142     Fields:    Translation:HumansCells
    136. Oculo-ectodermal syndrome: is arachnoid cyst a common finding? Clin Dysmorphol. 2007 Jan; 16(1):35-8. Martin MM, Lockspieler T, Slavotinek AM. PMID: 17159512.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    137. Clinical features and management issues in Mowat-Wilson syndrome. . 2006 Dec 15; 140(24):2730-41. 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. PMID: 17103451.
      View in: PubMed   Mentions:
    138. 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. 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. PMID: 17043134.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    139. Atrioventricular block and wiry hair in Teebi hypertelorism syndrome. . 2006 Sep 15; 140(18):1960-4. Han XD, Cox V, Slavotinek A. PMID: 16906548.
      View in: PubMed   Mentions:
    140. ABCA12 is the major harlequin ichthyosis gene. J Invest Dermatol. 2006 Nov; 126(11):2408-13. 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. PMID: 16902423.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    141. 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. Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA. PMID: 16736036.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    142. Prenatal diagnosis of familial type I choledochal cyst. Pediatrics. 2006 Mar; 117(3):e596-600. Clifton MS, Goldstein RB, Slavotinek A, Norton ME, Lee H, Farrell J, Nobuhara KK. PMID: 16452322.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    143. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? . 2005 Dec 15; 139(3):186-93. Lin AE, Pober BR, Mullen MP, Slavotinek AM. PMID: 16283673.
      View in: PubMed   Mentions:
    144. A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene. . 2005 Oct 01; 138A(2):89-94. Slavotinek A, Lee SS, Hamilton SP. PMID: 16114045.
      View in: PubMed   Mentions:
    145. Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. . 2005 Oct 01; 138A(2):146-9. Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M. PMID: 16114047.
      View in: PubMed   Mentions:
    146. Uniparental disomy. Pediatr Dermatol. 2005 Sep-Oct; 22(5):482-7. Siegel DH, Slavotinek A. PMID: 16191008.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    147. Case reports of oculofaciocardiodental syndrome with unusual dental findings. . 2005 Jul 30; 136(3):275-7. Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM. PMID: 15957158.
      View in: PubMed   Mentions:
    148. Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors. . 2005 May 15; 135(1):13-20. Slavotinek A, Parisi M, Heike C, Hing A, Huang E. PMID: 15810008.
      View in: PubMed   Mentions:
    149. Fryns syndrome with osteochondrodysplasia. . 2005 May 01; 134(4):454-6. Slavotinek AM, Robinson H, Steele MA. PMID: 15793837.
      View in: PubMed   Mentions:
    150. Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol. 2005 Apr; 14(2):93-6. Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. PMID: 15770132.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    151. The genetics of congenital diaphragmatic hernia. Semin Perinatol. 2005 Apr; 29(2):77-85. Slavotinek AM. PMID: 16050525.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansAnimals
    152. Marinesco-Sjögren syndrome in a male with mild dysmorphism. . 2005 Mar 01; 133A(2):197-201. Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. PMID: 15633176.
      View in: PubMed   Mentions:
    153. Fryns syndrome: report of eight new cases. Genet Med. 2005 Jan; 7(1):74-6. Slavotinek AM, Schauer G, Machin G, Dasouki M, Rueda-Pedraza ME, Chiricosta F, Keller R. PMID: 15654233.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    154. A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? . 2004 Aug 15; 129A(1):69-72. Slavotinek AM, Dutra A, Kpodzo D, Pak E, Nakane T, Turner J, Whiteford M, Biesecker LG, Stratton P. PMID: 15266619.
      View in: PubMed   Mentions:
    155. Fryns syndrome: a review of the phenotype and diagnostic guidelines. . 2004 Feb 01; 124A(4):427-33. Slavotinek AM. PMID: 14735597.
      View in: PubMed   Mentions:
    156. Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants. . 2004 Jan 15; 124A(2):118-28. Kozma C, Slavotinek AM, Meck JM. PMID: 14699608.
      View in: PubMed   Mentions:
    157. A female infant with duplication of chromosome 2q33 to 2q37.3. Clin Dysmorphol. 2003 Oct; 12(4):251-6. Slavotinek AM, Boles D, Lacbawan F. PMID: 14564213.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    158. Non-syndromic hemihyperplasia in a male and his mother. . 2003 Aug 15; 121A(1):47-51. Slavotinek AM, Collins MT, Muenke M. PMID: 12900901.
      View in: PubMed   Mentions:
    159. 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. Slavotinek AM, Lacbawan F. PMID: 14564160.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    160. Genetic modifiers in human development and malformation syndromes, including chaperone proteins. Hum Mol Genet. 2003 Apr 01; 12 Spec No 1:R45-50. Slavotinek A, Biesecker LG. PMID: 12668596.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimals
    161. 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. Slavotinek AM, Dubovsky E, Dietz HC, Lacbawan F. PMID: 12116239.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
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