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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    Collapse Research Activities and Funding
    Genomic analysis of microphthalmia, anophthalmia and coloboma
    NIH R01EY032976Sep 30, 2021 - Aug 31, 2024
    Role: Principal Investigator
    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 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. Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021 Oct 12; 6(1):88. Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. PMID: 34642307.
      View in: PubMed   Mentions:
    2. Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021 Sep 23; 6(1):77. Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D, Kwok PY, Boffelli D. PMID: 34556655.
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    3. Response to Hamosh et al. Am J Hum Genet. 2021 09 02; 108(9):1809-1810. 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: 34478656.
      View in: PubMed   Mentions:    Fields:    
    4. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Am J Med Genet A. 2021 Aug 26. Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Cinzia C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D, DDD Study , Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM, Balasubramanian M. PMID: 34436830.
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    5. Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study. BMC Med. 2021 08 18; 19(1):199. Haverfield EV, Esplin ED, Aguilar SJ, Hatchell KE, Ormond KE, Hanson-Kahn A, Atwal PS, Macklin-Mantia S, Hines S, Sak CW, Tucker S, Bleyl SB, Hulick PJ, Gordon OK, Velsher L, Gu JYJ, Weissman SM, Kruisselbrink T, Abel C, Kettles M, Slavotinek A, Mendelsohn BA, Green RC, Aradhya S, Nussbaum RL. PMID: 34404389.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    6. 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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    7. Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases. Genet Med. 2021 Sep; 23(9):1604-1615. 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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    8. 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: 2     Fields:    
    9. New cases that expand the genotypic and phenotypic spectrum of Congenital NAD Deficiency Disorder. Hum Mutat. 2021 Jul; 42(7):862-876. 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, CAUSES Study , Phillips RS, Chapman G, Dunwoodie SL. PMID: 33942433.
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    10. Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results. Clin Genet. 2021 05; 99(5):638-649. Donohue KE, Gooch C, Katz A, Wakelee J, Slavotinek A, Korf BR. PMID: 33818754.
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    11. 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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    12. 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 06 03; 108(6):1053-1068. 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: 1     Fields:    Translation:HumansCells
    13. Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150. 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
    14. Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics). Genet Med. 2021 07; 23(7):1356-1365. 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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    15. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy. Genet Med. 2021 Apr; 23(4):796. 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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    16. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021 06; 185(6):1649-1665. 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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    17. Third case of Bardet-Biedl syndrome caused by a biallelic variant predicted to affect splicing of IFT74. Clin Genet. 2021 07; 100(1):93-99. Mardy AH, Hodoglugil U, Yip T, Slavotinek AM. PMID: 33748949.
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    18. Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. Eur J Hum Genet. 2021 Sep; 29(9):1405-1417. 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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    19. 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: 7     Fields:    Translation:Humans
    20. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    21. 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: 4     Fields:    Translation:Humans
    22. 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: 8     Fields:    Translation:Humans
    23. 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.
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    24. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    25. 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.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansAnimals
    26. 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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    27. 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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    28. 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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    29. 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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    30. 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
    31. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansAnimals
    32. 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: 3     Fields:    Translation:HumansCells
    33. 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
    34. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    35. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    36. 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
    37. 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.
      View in: PubMed   Mentions: 2     Fields:    
    38. 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.
      View in: PubMed   Mentions:
    39. 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: 3     Fields:    Translation:Humans
    40. 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: 8     Fields:    Translation:Humans
    41. 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: 7     Fields:    Translation:HumansAnimalsCells
    42. 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.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    43. 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: 7     Fields:    Translation:Humans
    44. 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
    45. Introducing in AJMG Part A: Genetic Syndromes in Adults. . 2019 08; 179(8):1413-1414. Slavotinek AM, Muenke M. PMID: 30912611.
      View in: PubMed   Mentions:
    46. 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: 8     Fields:    Translation:Humans
    47. 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
    48. 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
    49. 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.
      View in: PubMed   Mentions:
    50. 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: 8     Fields:    Translation:HumansAnimals
    51. 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.
      View in: PubMed   Mentions: 19     Fields:    
    52. 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: 29     Fields:    Translation:Humans
    53. Early inspirations from times gone by. . 2018 Sep; 176(9):1797-1798. Slavotinek A, Solomon BD, Muenke M. PMID: 30063092.
      View in: PubMed   Mentions:
    54. 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
    55. Correction to: A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans. Hum Genet. 2018 05; 137(5):427-428. Krall M, Htun S, Anand D, Hart D, Lachke SA, Slavotinek AM. PMID: 29752539.
      View in: PubMed   Mentions:    Fields:    
    56. A zebrafish model of foxe3 deficiency demonstrates lens and eye defects with dysregulation of key genes involved in cataract formation in humans. Hum Genet. 2018 Apr; 137(4):315-328. Krall M, Htun S, Anand D, Hart D, Lachke SA, Slavotinek AM. PMID: 29713869.
      View in: PubMed   Mentions: 10     Fields:    Translation:HumansAnimalsCells
    57. 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.
      View in: PubMed   Mentions:
    58. 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.
      View in: PubMed   Mentions:
    59. 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
    60. 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: 16     Fields:    Translation:HumansAnimals
    61. 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.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimalsCells
    62. 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.
      View in: PubMed   Mentions:
    63. A randomized controlled trial of levodopa in patients with Angelman syndrome. Am J Med Genet A. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimals
    64. 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.
      View in: PubMed   Mentions:
    65. Characterization of a variant of gap junction protein α8 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    66. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    67. 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.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    68. 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.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    69. 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.
      View in: PubMed   Mentions:
    70. 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.
      View in: PubMed   Mentions:
    71. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    72. 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.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    73. 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: 21     Fields:    Translation:HumansAnimalsCells
    74. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Clin Genet. 2017 Aug; 92(2):221-223. Stern D, Cho MT, Chikarmane R, Willaert R, Retterer K, Kendall F, Deardorff M, Hopkins S, Bedoukian E, Slavotinek A, Schrier Vergano S, Spangler B, McDonald M, McConkie-Rosell A, Burton BK, Kim KH, Oundjian N, Kronn D, Chandy N, Baskin B, Guillen Sacoto MJ, Wentzensen IM, McLaughlin HM, McKnight D, Chung WK. PMID: 28111752.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    75. Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia. Ophthalmic Genet. 2017 Jul-Aug; 38(4):371-375. Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A. PMID: 27661448.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    76. The Family of Crumbs Genes and Human Disease. Mol Syndromol. 2016 Oct; 7(5):274-281. Slavotinek AM. PMID: 27867342.
      View in: PubMed   Mentions:
    77. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    78. 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.
      View in: PubMed   Mentions:
    79. Clinical care models in the era of next-generation sequencing. Mol Genet Genomic Med. 2016 May; 4(3):239-42. Slavotinek A. PMID: 27247951.
      View in: PubMed   Mentions: 1     Fields:    
    80. 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.
      View in: PubMed   Mentions:
    81. 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.
      View in: PubMed   Mentions: 32     Fields:    Translation:Humans
    82. 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.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    83. 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.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    84. 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.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    85. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    86. 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.
      View in: PubMed   Mentions: 22     Fields:    Translation:Humans
    87. 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.
      View in: PubMed   Mentions:
    88. 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.
      View in: PubMed   Mentions:
    89. Expanding the Clinical Spectrum Associated With GLIS3 Mutations. J Clin Endocrinol Metab. 2015 Oct; 100(10):E1362-9. Dimitri P, Habeb AM, Gurbuz F, Garbuz F, Millward A, Wallis S, Moussa K, Akcay T, Taha D, Hogue J, Slavotinek A, Wales JK, Shetty A, Hawkes D, Hattersley AT, Ellard S, De Franco E. PMID: 26259131.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    90. 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: 92     Fields:    Translation:HumansAnimals
    91. 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.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    92. 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.
      View in: PubMed   Mentions:
    93. 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: 11     Fields:    Translation:HumansAnimalsCells
    94. 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.
      View in: PubMed   Mentions:
    95. Recognizable syndromes in the newborn period. Clin Perinatol. 2015 Jun; 42(2):263-80, viii. Slavotinek A, Ali M. PMID: 26042904.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    96. 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.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    97. Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects. Clin Genet. 2015 Nov; 88(5):468-73. 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. PMID: 25457163.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    98. 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.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
    99. 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
    100. 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.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    101. 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.
      View in: PubMed   Mentions: 14     Fields:    Translation:Humans
    102. 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.
      View in: PubMed   Mentions:
    103. 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:
    104. 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:
    105. 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: 13     Fields:    Translation:HumansAnimals
    106. 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:
    107. 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: 21     Fields:    Translation:Humans
    108. 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
    109. Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome. Clin Genet. 2014 Feb; 85(2):194-7. 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. PMID: 23557072.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    110. 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:
    111. 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: 8     Fields:    Translation:Humans
    112. 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: 3     Fields:    Translation:HumansCells
    113. Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. Clin Genet. 2013 Oct; 84(4):392-3. Hogue J, Lee C, Jelin A, Strecker MN, Cox VA, Slavotinek AM. PMID: 23278365.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    114. 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
    115. 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:
    116. 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
    117. 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:
    118. 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:
    119. 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
    120. 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: 22     Fields:    Translation:HumansCells
    121. 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: 14     Fields:    Translation:HumansCells
    122. 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:
    123. Eye development genes and known syndromes. Mol Genet Metab. 2011 Dec; 104(4):448-56. Slavotinek AM. PMID: 22005280.
      View in: PubMed   Mentions: 40     Fields:    Translation:HumansAnimals
    124. 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: 30     Fields:    Translation:HumansCells
    125. 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: 23     Fields:    Translation:HumansAnimalsCells
    126. 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:
    127. 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):11-14. Slavotinek AM, Vargervik K. PMID: 21188766.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    128. 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
    129. 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:
    130. 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:
    131. A male with unilateral microphthalmia reveals a role for TMX3 in eye development. PLoS One. 2010 May 11; 5(5):e10565. Hanna RF, Ward TJ, Chow DS, Lagana SM, Moreira RK, Emond JC, Weintraub JL, Prince MR, 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
    132. 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
    133. 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
    134. 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:
    135. 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
    136. 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
    137. 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:
    138. 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:
    139. Of brain and bone: the unusual case of Dr. A. Neurocase. 2009 Jun; 15(3):190-205. Narvid J, Gorno-Tempini ML, Slavotinek A, Dearmond SJ, Cha YH, Miller BL, Rankin K. PMID: 20183548.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    140. Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J Med Genet. 2009 Jul; 46(7):480-9. 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. PMID: 19447831.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    141. Sequence variants in the HLX gene at chromosome 1q41-1q42 in patients with diaphragmatic hernia. Clin Genet. 2009 May; 75(5):429-39. Slavotinek AM, Moshrefi A, Lopez Jiminez N, Chao R, Mendell A, Shaw GM, Pennacchio LA, Bates MD. PMID: 19459883.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    142. Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. . 2009 Mar; 149A(3):539-42. West B, Bove KE, Slavotinek AM. PMID: 19213032.
      View in: PubMed   Mentions:
    143. 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:
    144. 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
    145. 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
    146. 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:
    147. Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. . 2007 Dec 15; 143A(24):3069-78. Wu E, Vargevik K, Slavotinek AM. PMID: 17955515.
      View in: PubMed   Mentions:
    148. Cleft lip with or without cleft palate: frequency in different ethnic populations from the UCSF craniofacial clinic. . 2007 Oct 01; 143A(19):2347-51. Hsieh EW, Yeh RF, Oberoi S, Vargervik K, Slavotinek AM. PMID: 17726687.
      View in: PubMed   Mentions:
    149. 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:
    150. 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
    151. 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. Bleyl SB, Moshrefi A, Shaw GM, Saijoh Y, Schoenwolf GC, Pennacchio LA, Slavotinek AM. PMID: 17568391.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansAnimalsCells
    152. 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
    153. 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
    154. 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:
    155. KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. . 2007 Feb 01; 143A(3):292-300. Skjei KL, Martin MM, Slavotinek AM. PMID: 17230487.
      View in: PubMed   Mentions:
    156. 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: 144     Fields:    Translation:HumansCells
    157. Oculo-ectodermal syndrome: is arachnoid cyst a common finding? Clin Dysmorphol. 2007 Jan; 16(1):35-38. Martin MM, Lockspieler T, Slavotinek AM. PMID: 17159512.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    158. 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:
    159. 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: 8     Fields:    Translation:Humans
    160. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. . 2006 Sep 15; 140(18):1909-14. Slavotinek A, Li C, Sherr EH, Chudley AE. PMID: 16894541.
      View in: PubMed   Mentions:
    161. 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:
    162. 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
    163. 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: 36     Fields:    Translation:HumansCells
    164. 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: 4     Fields:    Translation:Humans
    165. 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:
    166. Genomic microarray analysis identifies candidate loci in patients with corpus callosum anomalies. Neurology. 2005 Nov 08; 65(9):1496-8. Sherr EH, Owen R, Albertson DG, Pinkel D, Cotter PD, Slavotinek AM, Hetts SW, Jeremy RJ, Schilmoeller G, Schilmoeller K, Wakahiro M, Barkovich AJ. PMID: 16275846.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    167. 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:
    168. 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:
    169. Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1. J Med Genet. 2005 Sep; 42(9):730-6. Slavotinek A, Lee SS, Davis R, Shrit A, Leppig KA, Rhim J, Jasnosz K, Albertson D, Pinkel D. PMID: 16141010.
      View in: PubMed   Mentions: 23     Fields:    Translation:HumansCells
    170. 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
    171. 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:
    172. 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:
    173. Fryns syndrome with osteochondrodysplasia. . 2005 May 01; 134(4):454-6. Slavotinek AM, Robinson H, Steele MA. PMID: 15793837.
      View in: PubMed   Mentions:
    174. Case report: Y;6 translocation with deletion of 6p. Clin Dysmorphol. 2005 Apr; 14(2):93-96. Klein OD, Backstrand K, Cotter PD, Marco E, Sherr E, Slavotinek A. PMID: 15770132.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    175. 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
    176. 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:
    177. Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome. J Med Genet. 2005 Feb; 42(2):e11. Lee JS, Tartaglia M, Gelb BD, Fridrich K, Sachs S, Stratakis CA, Muenke M, Robey PG, Collins MT, Slavotinek A. PMID: 15689434.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    178. 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
    179. 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:
    180. 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:
    181. 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:
    182. 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
    183. 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:
    184. 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: 4     Fields:    Translation:HumansCells
    185. 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: 15     Fields:    Translation:HumansAnimals
    186. Two unique patients with trisomy 18 mosaicism and molecular marker studies. . 2003 Mar 15; 117A(3):282-8. Slavotinek A, Poyser L, Wallace A, Martin F, Gaunt L, Kingston H. PMID: 12599194.
      View in: PubMed   Mentions:
    187. 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. Slavotinek AM, Tifft CJ. PMID: 12205104.
      View in: PubMed   Mentions: 41     Fields:    Translation:Humans
    188. 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
    189. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet. 2002 Jun; 110(6):561-7. 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. PMID: 12107442.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    190. Unfolding the role of chaperones and chaperonins in human disease. Trends Genet. 2001 Sep; 17(9):528-35. Slavotinek AM, Biesecker LG. PMID: 11525836.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    191. Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. Am J Med Genet. 2000 Nov 27; 95(3):208-15. Slavotinek AM, Biesecker LG. PMID: 11102925.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    192. Sudden death caused by pulmonary thromboembolism in Proteus syndrome. Clin Genet. 2000 Nov; 58(5):386-9. Slavotinek AM, Vacha SJ, Peters KF, Biesecker LG. PMID: 11140839.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    193. Punctate calcification of the epiphyses, visceral malformations, and craniofacial dysmorphism in a female baby. J Med Genet. 2000 Oct; 37(10):796-8. Slavotinek A, Kingston H. PMID: 11183187.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    194. Partial tetrasomy 21 in a male infant. J Med Genet. 2000 Oct; 37(10):E30. Slavotinek AM, Chen XN, Jackson A, Gaunt L, Campbell A, Clayton-Smith J, Korenberg JR. PMID: 11015462.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    195. Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet. 2000 Sep; 26(1):15-6. Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. PMID: 10973238.
      View in: PubMed   Mentions: 70     Fields:    Translation:Humans
    196. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet. 2000 May; 25(1):79-82. Stone DL, Slavotinek A, Bouffard GG, Banerjee-Basu S, Baxevanis AD, Barr M, Biesecker LG. PMID: 10802661.
      View in: PubMed   Mentions: 44     Fields:    Translation:HumansAnimalsCells
    197. A girl with ectodermal dysplasia, choanal atresia and polysyndactyly. Clin Dysmorphol. 1999 Oct; 8(4):287-9. Slavotinek A, Clayton-Smith J. PMID: 10532179.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    198. Two cases with interstitial deletions of chromosome 2 and sex reversal in one. Am J Med Genet. 1999 Sep 03; 86(1):75-81. Slavotinek A, Schwarz C, Getty JF, Stecko O, Goodman F, Kingston H. PMID: 10440834.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansCells
    199. Monosomy 1p36. J Med Genet. 1999 Sep; 36(9):657-63. Slavotinek A, Shaffer LG, Shapira SK. PMID: 10507720.
      View in: PubMed   Mentions: 28     Fields:    Translation:HumansCells
    200. Brachydactyly type B: case report and further evidence for clinical heterogeneity. Clin Dysmorphol. 1999 Jul; 8(3):165-71. Slavotinek A, Clayton-Smith J. PMID: 10457848.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    201. Unilateral tibial aplasia, pre-axial polysyndactyly, vertebral anomalies and imperforate anus. Clin Dysmorphol. 1999 Jul; 8(3):223-5. Slavotinek A, Clayton-Smith J, Kerr B. PMID: 10457860.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    202. 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. 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. PMID: 10353788.
      View in: PubMed   Mentions: 17     Fields:    Translation:HumansCells
    203. Childhood vulval lichen sclerosus in a patient with ectodermal dysplasia and uncombable hair. Pediatr Dermatol. 1998 Nov-Dec; 15(6):446-9. Powell J, Wojnarowska F, Dawber R, Slavotinek A, Huson S. PMID: 9875967.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    204. A boy with severe manifestations of type A1 brachydactyly. Clin Dysmorphol. 1998 Jan; 7(1):21-7. Slavotinek A, Donnai D. PMID: 9546826.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    205. ACTH receptor mutation in a girl with familial glucocorticoid deficiency. Clin Genet. 1998 Jan; 53(1):57-62. Slavotinek AM, Hurst JA, Dunger D, Wilkie AO. PMID: 9550364.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansCells
    206. Transverse limb defects, holoprosencephaly and neuronal heterotopia--a new syndrome? Clin Dysmorphol. 1997 Oct; 6(4):365-70. Slavotinek A, Stahlschmidt J, Moore L. PMID: 9354847.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    207. The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3. J Med Genet. 1997 Oct; 34(10):857-61. Slavotinek A, Maher E, Gregory P, Rowlandson P, Huson SM. PMID: 9350823.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    208. Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions. J Med Genet. 1997 Oct; 34(10):862-5. Slavotinek A, Kingston H. PMID: 9350824.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    209. Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome. J Med Genet. 1997 Oct; 34(10):819-26. Slavotinek A, Gaunt L, Donnai D. PMID: 9350814.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    210. Familial patent ductus arteriosus: a further case of CHAR syndrome. Am J Med Genet. 1997 Aug 08; 71(2):229-32. Hanna RF, Ward TJ, Chow DS, Lagana SM, Moreira RK, Emond JC, Weintraub JL, Prince MR, Slavotinek A, Clayton-Smith J, Super M. PMID: 9217229.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    211. Interstitial deletion of band 3q25. J Med Genet. 1997 May; 34(5):430-2. Slavotinek AM, Huson SM, Fitchett M. PMID: 9152845.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    212. Chromosome painting of radiation-induced micronuclei. Int J Radiat Biol. 1996 Oct; 70(4):393-401. Slavotinek A, Sauer-Nehls S, Braselmann H, Taylor GM, Nüsse M. PMID: 8862450.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansCells
    213. 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. Slavotinek A, Hellen E, Gould S, Coghill SB, Huson SM, Hurst JA. PMID: 8818453.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    214. Cataracts, motor system disorder, short stature, learning difficulties, and skeletal abnormalities: a new syndrome? Am J Med Genet. 1996 Mar 01; 62(1):42-7. Slavotinek AM, Pike M, Mills K, Hurst JA. PMID: 8779323.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
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