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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 sequencing to aid diagnosis in pediatric and prenatal practice: Examining clinical utility, ethical implications, payer coverage, and data integration in a diverse population.
    NIH/NHGRI U01HG009599Aug 4, 2017 - May 31, 2021
    Role: Co-Principal Investigator
    Gene Discovery in Human Anopthalmia/Micropthalmia
    NIH/NEI R21EY022779Sep 1, 2012 - Aug 31, 2014
    Role: Principal Investigator
    Anopthalmia Spectrum Disorders
    NIH/NEI R21EY019999Aug 1, 2010 - Jul 31, 2013
    Role: Principal Investigator
    Molecular Genetic Analysis of Congenital Diaphragmatic Hernia
    NIH/NICHD K08HD053476Apr 1, 2007 - Mar 31, 2013
    Role: Principal Investigator
    Genetic analysis of congenital diaphragmatic hernia
    NIH/NICHD R03HD049411Mar 15, 2005 - Feb 28, 2007
    Role: Principal Investigator
    PEDIATRIC CLINICAL RESEARCH CENTER
    NIH/NCRR M01RR001271Dec 1, 1981 - Sep 29, 2006
    Role: Co-Investigator
    Postdoctoral Training in Medical Genetics
    NIH/NIGMS T32GM007085Jul 1, 1975 - Jun 30, 2014
    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. Exome sequencing in patients with microphthalmia, anophthalmia and coloboma (MAC) from a consanguineous population. Clin Genet. 2020 Aug 15. 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:    
    2. Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness. Hum Mol Genet. 2020 Aug 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:    Fields:    
    3. Announcing a new manuscript category for the American Journal of Medical Genetics Part A: Dispatches from Biotech. Am J Med Genet A. 2020 Jul 23. Solomon BD, Slavotinek AM. PMID: 32700360.
      View in: PubMed   Mentions:    Fields:    
    4. 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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    5. 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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    6. Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings. Am J Med Genet A. 2020 Jun 07. Hampshire K, Martin PM, Carlston C, Slavotinek A. PMID: 32506774.
      View in: PubMed   Mentions:    Fields:    
    7. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 Jun 01. 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: 1     Fields:    
    8. Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease. Hum Mol Genet. 2020 May 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: 1     Fields:    
    9. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7. Genet Med. 2020 Jul; 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, 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.
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    10. 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.
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    11. 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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    12. 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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    13. 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: 1     Fields:    
    14. 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, 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:    
    15. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. Am J Med Genet A. 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:    Fields:    Translation:Humans
    16. 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:    Fields:    Translation:Humans
    17. 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: 3     Fields:    Translation:Humans
    18. 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, Chung WK, Markello TC, Dobyns WB, Adams DR, Gahl WA, Wangler MF, Yamamoto S, Bellen HJ, Malicdan MCV. PMID: 31327508.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansAnimalsCells
    19. 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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    20. 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:    Fields:    Translation:Humans
    21. 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:    Fields:    Translation:HumansAnimalsCells
    22. Introducing in AJMG Part A: Genetic Syndromes in Adults. Am J Med Genet A. 2019 08; 179(8):1413-1414. Slavotinek AM, Muenke M. PMID: 30912611.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    23. 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: 4     Fields:    Translation:Humans
    24. 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, Schneidman-Duhovny D, Innes AM, Mancini GMS, Slavotinek AM. PMID: 30622326.
      View in: PubMed   Mentions: 1     Fields:    Translation:HumansAnimalsCells
    25. 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. PMID: 30311382.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    26. Two patients with FOXF1 mutations with alveolar capillary dysplasia with misalignment of pulmonary veins and other malformations: Two different presentations and outcomes. Am J Med Genet A. 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: 1     Fields:    Translation:Humans
    27. 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: 3     Fields:    Translation:HumansAnimals
    28. 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, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P. PMID: 30349862.
      View in: PubMed   Mentions: 8     Fields:    
    29. 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, Plon SE, Jarvik GP. PMID: 30193136.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    30. 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. 2018 Aug 01. Flores Pimentel MA, De la Huerta I, Duncan JL, Slavotinek AM, Moore AT, de Alba Campomanes AG. PMID: 30074570.
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    31. Early inspirations from times gone by. Am J Med Genet A. 2018 Sep; 176(9):1797-1798. Slavotinek A, Solomon BD, Muenke M. PMID: 30063092.
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    32. 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: 1     Fields:    Translation:Humans
    33. 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.
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    34. 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: 4     Fields:    Translation:HumansAnimalsCells
    35. Congenital sodium diarrhea and chorioretinal coloboma with optic disc coloboma in a patient with biallelic SPINT2 mutations, including p.(Tyr163Cys). Am J Med Genet A. 2018 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:    Fields:    Translation:Humans
    36. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 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: 3     Fields:    Translation:Humans
    37. 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: 2     Fields:    Translation:HumansAnimalsCells
    38. 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: 4     Fields:    Translation:HumansAnimals
    39. 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: 6     Fields:    Translation:HumansAnimalsCells
    40. Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. Am J Med Genet A. 2017 Nov; 173(11):3075-3081. Eppley S, Hopkin RJ, Mendelsohn B, Slavotinek AM. PMID: 28960803.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    41. 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: 2     Fields:    Translation:HumansAnimals
    42. HLX is a candidate gene for a pattern of anomalies associated with congenital diaphragmatic hernia, short bowel, and asplenia. Am J Med Genet A. 2017 Nov; 173(11):3070-3074. 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: 2     Fields:    Translation:HumansAnimals
    43. 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.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    44. 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: 1     Fields:    Translation:HumansCells
    45. 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. PMID: 28667181.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    46. 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
    47. 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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    48. Clinical report: A patient with a late diagnosis of cerebrotendinous xanthomatosis and a response to treatment. Am J Med Genet A. 2017 Aug; 173(8):2275-2279. Alhariri A, Hamilton K, Oza V, Cordoro K, Sobreira NL, Malloy M, Slavotinek A. PMID: 28590052.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    49. 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
    50. 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
    51. 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: 9     Fields:    Translation:HumansAnimalsCells
    52. 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: 2     Fields:    Translation:Humans
    53. 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:    Fields:    Translation:Humans
    54. The Family of Crumbs Genes and Human Disease. Mol Syndromol. 2016 Oct; 7(5):274-281. Slavotinek AM. PMID: 27867342.
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    55. 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: 2     Fields:    Translation:Humans
    56. Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. Am J Med Genet A. 2016 10; 170(10):2711-8. Arunrut T, Sabbadini M, Jain M, Machol K, Scaglia F, Slavotinek A. PMID: 27320698.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    57. 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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    58. An emerging, recognizable facial phenotype in association with mutations in GLI-similar 3 (GLIS3). Am J Med Genet A. 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: 4     Fields:    Translation:Humans
    59. 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: 19     Fields:    Translation:Humans
    60. 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: 7     Fields:    Translation:Humans
    61. 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: 5     Fields:    Translation:Humans
    62. Genetic analysis of consanguineous families presenting with congenital ocular defects. Exp Eye Res. 2016 05; 146:163-71. 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: 4     Fields:    Translation:Humans
    63. 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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    64. 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: 16     Fields:    Translation:Humans
    65. Recurrent duplications of 17q12 associated with variable phenotypes. Am J Med Genet A. 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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    66. The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. Am J Med Genet A. 2016 Jan; 170A(1):103-15. 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: 12     Fields:    Translation:HumansCells
    67. 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: 12     Fields:    Translation:Humans
    68. 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, Katsanis N, Battaloglu E, Boerwinkle E, Gibbs RA, Lupski JR. PMID: 26257172.
      View in: PubMed   Mentions: 67     Fields:    Translation:HumansAnimals
    69. 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: 3     Fields:    Translation:HumansCells
    70. Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome. Am J Med Genet A. 2015 Nov; 167A(11):2767-76. Tunovic S, Barañano KW, Barkovich JA, Strober JB, Jamal L, Slavotinek AM. PMID: 26174511.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    71. 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: 4     Fields:    Translation:HumansAnimalsCells
    72. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. Am J Med Genet A. 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: 6     Fields:    Translation:HumansCells
    73. 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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    74. 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: 11     Fields:    Translation:Humans
    75. 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.
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    76. 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: 19     Fields:    Translation:HumansCells
    77. 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: 9     Fields:    Translation:AnimalsCells
    78. 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: 6     Fields:    Translation:Humans
    79. 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: 11     Fields:    Translation:Humans
    80. De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. Am J Med Genet A. 2014 Jul; 164A(7):1744-9. Tunovic S, Barkovich J, Sherr EH, Slavotinek AM. PMID: 24838796.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    81. Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). Am J Med Genet A. 2014 Aug; 164A(8):2079-83. Mendelsohn BA, Pronold M, Long R, Smaoui N, Slavotinek AM. PMID: 24818805.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    82. Nine patients with Xp22.31 microduplication, cognitive deficits, seizures, and talipes anomalies. Am J Med Genet A. 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: 7     Fields:    Translation:HumansCells
    83. 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: 11     Fields:    Translation:HumansAnimals
    84. Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies. Am J Med Genet A. 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: 3     Fields:    Translation:HumansCells
    85. 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, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM. PMID: 23621943.
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    86. 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: 26     Fields:    Translation:HumansAnimals
    87. 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.
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    88. Clinical report: Two patients with atelosteogenesis type I caused by missense mutations affecting the same FLNB residue. Am J Med Genet A. 2013 Mar; 161A(3):619-25. Li BC, Hogue J, Eilers M, Mehrotra P, Hyland J, Holm T, Prosen T, Slavotinek AM. PMID: 23401428.
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    89. 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.
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    90. 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.
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    91. 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.
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    92. 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.
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    93. Congenital high airway obstruction sequence (CHAOS): a new case and a review of phenotypic features. Am J Med Genet A. 2012 Dec; 158A(12):3126-36. Sanford E, Saadai P, Lee H, Slavotinek A. PMID: 23165863.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    94. 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.
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    95. Special Section. Syndrome-specific growth charts. Am J Med Genet A. 2012 Nov; 158A(11):2645-6. Hall JG, Allanson JE, Gripp KW, Slavotinek AM. PMID: 23038170.
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    96. A much needed new journal in the field of Pediatric Genetics. J Pediatr Genet. 2012 Mar; 1(1):1-2. Slavotinek AM. PMID: 27625793.
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    97. 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.
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    98. 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.
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    99. 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.
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    100. Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. Am J Med Genet A. 2011 Nov; 155A(11):2816-20. Sanford EF, Bermudez-Wagner K, Jeng LJ, Rauen KA, Slavotinek AM. PMID: 21965155.
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    101. Eye development genes and known syndromes. Mol Genet Metab. 2011 Dec; 104(4):448-56. Slavotinek AM. PMID: 22005280.
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    102. 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.
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    103. 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: 18     Fields:    Translation:HumansAnimalsCells
    104. A de novo deletion of CALN1 in a male with a bilateral diaphragmatic defect does not definitely cause this malformation. Am J Med Genet A. 2011 May; 155A(5):1196-201. Slavotinek AM, Rosenfeld JA, Chao R, Niyazov D, Eswara M, Bader PI, Stockton DW, Stankiewicz P, Adam MP. PMID: 21480483.
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    105. 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.
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    106. Clinical utility gene card for: Bardet-Biedl syndrome. Eur J Hum Genet. 2011 Mar; 19(3). Slavotinek A, Beales P. PMID: 21150877.
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    107. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2. Am J Med Genet A. 2010 Dec; 152A(12):3120-3. Bardakjian TM, Kwok S, Slavotinek AM, Schneider AS. PMID: 21082658.
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    108. A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia. Am J Med Genet A. 2010 Oct; 152A(10):2574-7. Hogue J, Shankar S, Perry H, Patel R, Vargervik K, Slavotinek A. PMID: 20734337.
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    109. 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.
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    110. 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
    111. 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: 1     Fields:    Translation:Humans
    112. A maternally inherited chromosome 18q22.1 deletion in a male with late-presenting diaphragmatic hernia and microphthalmia-evaluation of DSEL as a candidate gene for the diaphragmatic defect. Am J Med Genet A. 2010 Apr; 152A(4):916-23. Zayed H, Chao R, Moshrefi A, Lopezjimenez N, Delaney A, Chen J, Shaw GM, Slavotinek AM. PMID: 20358601.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    113. 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
    114. 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: 5     Fields:    Translation:HumansAnimalsCells
    115. Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. Am J Med Genet A. 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: 6     Fields:    Translation:HumansCells
    116. Congenital diaphragmatic hernia and microtia in a newborn with mycophenolate mofetil (MMF) exposure: phenocopy for Fryns syndrome or broad spectrum of teratogenic effects? Am J Med Genet A. 2009 Jun; 149A(6):1237-40. Parisi MA, Zayed H, Slavotinek AM, Rutledge JC. PMID: 19449404.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    117. 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: 13     Fields:    Translation:HumansCells
    118. 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: 18     Fields:    Translation:HumansCells
    119. 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: 10     Fields:    Translation:HumansAnimalsCells
    120. Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration. Am J Med Genet A. 2009 Mar; 149A(3):539-42. West B, Bove KE, Slavotinek AM. PMID: 19213032.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    121. Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. Am J Med Genet A. 2008 Sep 15; 146A(18):2337-45. Hsieh EW, Vargervik K, Slavotinek AM. PMID: 18697196.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    122. Novel microdeletion syndromes detected by chromosome microarrays. Hum Genet. 2008 Aug; 124(1):1-17. Slavotinek AM. PMID: 18512078.
      View in: PubMed   Mentions: 49     Fields:    Translation:HumansCells
    123. 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: 1     Fields:    Translation:Humans
    124. Subtypes of frontonasal dysplasia are useful in determining clinical prognosis. Am J Med Genet A. 2007 Dec 15; 143A(24):3069-78. Wu E, Vargevik K, Slavotinek AM. PMID: 17955515.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    125. Population-based analysis of left- and right-sided diaphragmatic hernias demonstrates different frequencies of selected additional anomalies. Am J Med Genet A. 2007 Dec 15; 143A(24):3127-36. Slavotinek AM, Warmerdam B, Lin AE, Shaw GM. PMID: 18008313.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    126. Cleft lip with or without cleft palate: frequency in different ethnic populations from the UCSF craniofacial clinic. Am J Med Genet A. 2007 Oct 01; 143A(19):2347-51. Hsieh EW, Yeh RF, Oberoi S, Vargervik K, Slavotinek AM. PMID: 17726687.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    127. Agenesis of the corpus callosum, optic coloboma, intractable seizures, craniofacial and skeletal dysmorphisms: an autosomal recessive disorder similar to Temtamy syndrome. Am J Med Genet A. 2007 Aug 15; 143A(16):1900-5. Li J, Shivakumar S, Wakahiro M, Mukherjee P, Barkovich AJ, Slavotinek A, Sherr EH. PMID: 17632789.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    128. 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: 6     Fields:    Translation:HumansCells
    129. 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: 16     Fields:    Translation:HumansAnimalsCells
    130. 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: 18     Fields:    Translation:HumansAnimalsCells
    131. 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: 11     Fields:    Translation:HumansAnimals
    132. Manitoba Oculotrichoanal (MOTA) syndrome: report of eight new cases. Am J Med Genet A. 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: 7     Fields:    Translation:Humans
    133. KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria. Am J Med Genet A. 2007 Feb 01; 143A(3):292-300. Skjei KL, Martin MM, Slavotinek AM. PMID: 17230487.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    134. 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: 122     Fields:    Translation:HumansCells
    135. 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
    136. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A. 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: 21     Fields:    Translation:Humans
    137. 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: 6     Fields:    Translation:Humans
    138. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet A. 2006 Sep 15; 140(18):1909-14. Slavotinek A, Li C, Sherr EH, Chudley AE. PMID: 16894541.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    139. Atrioventricular block and wiry hair in Teebi hypertelorism syndrome. Am J Med Genet A. 2006 Sep 15; 140(18):1960-4. Han XD, Cox V, Slavotinek A. PMID: 16906548.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    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: 16     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: 34     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? Am J Med Genet A. 2005 Dec 15; 139(3):186-93. Lin AE, Pober BR, Mullen MP, Slavotinek AM. PMID: 16283673.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    144. 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: 12     Fields:    Translation:HumansCells
    145. A family with X-linked anophthalmia: exclusion of SOX3 as a candidate gene. Am J Med Genet A. 2005 Oct 01; 138A(2):89-94. Slavotinek A, Lee SS, Hamilton SP. PMID: 16114045.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    146. Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. Am J Med Genet A. 2005 Oct 01; 138A(2):146-9. Slavotinek AM, Tanaka J, Winder A, Vargervik K, Haggstrom A, Bamshad M. PMID: 16114047.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCells
    147. Uniparental disomy. Pediatr Dermatol. 2005 Sep-Oct; 22(5):482-7. Siegel DH, Slavotinek A. PMID: 16191008.
      View in: PubMed   Mentions: 4     Fields:    Translation:Humans
    148. 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
    149. Case reports of oculofaciocardiodental syndrome with unusual dental findings. Am J Med Genet A. 2005 Jul 30; 136(3):275-7. Oberoi S, Winder AE, Johnston J, Vargervik K, Slavotinek AM. PMID: 15957158.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCells
    150. Craniofacial defects of blastogenesis: duplication of pituitary with cleft palate and orophgaryngeal tumors. Am J Med Genet A. 2005 May 15; 135(1):13-20. Slavotinek A, Parisi M, Heike C, Hing A, Huang E. PMID: 15810008.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    151. Fryns syndrome with osteochondrodysplasia. Am J Med Genet A. 2005 May 01; 134(4):454-6. Slavotinek AM, Robinson H, Steele MA. PMID: 15793837.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    152. 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
    153. 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
    154. Marinesco-Sjögren syndrome in a male with mild dysmorphism. Am J Med Genet A. 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: 3     Fields:    Translation:Humans
    155. 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: 20     Fields:    Translation:HumansCells
    156. 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
    157. A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome? Am J Med Genet A. 2004 Aug 15; 129A(1):69-72. Slavotinek AM, Dutra A, Kpodzo D, Pak E, Nakane T, Turner J, Whiteford M, Biesecker LG, Stratton P. PMID: 15266619.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    158. Fryns syndrome: a review of the phenotype and diagnostic guidelines. Am J Med Genet A. 2004 Feb 01; 124A(4):427-33. Slavotinek AM. PMID: 14735597.
      View in: PubMed   Mentions: 17     Fields:    Translation:Humans
    159. Segregation of a t(1;3) translocation in multiple affected family members with both types of adjacent-1 segregants. Am J Med Genet A. 2004 Jan 15; 124A(2):118-28. Kozma C, Slavotinek AM, Meck JM. PMID: 14699608.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    160. 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
    161. Non-syndromic hemihyperplasia in a male and his mother. Am J Med Genet A. 2003 Aug 15; 121A(1):47-51. Slavotinek AM, Collins MT, Muenke M. PMID: 12900901.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    162. 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
    163. 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
    164. Two unique patients with trisomy 18 mosaicism and molecular marker studies. Am J Med Genet A. 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:    Fields:    Translation:HumansCells
    165. 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: 39     Fields:    Translation:Humans
    166. 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
    167. 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
    168. 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: 15     Fields:    Translation:HumansCells
    169. 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
    170. 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: 9     Fields:    Translation:Humans
    171. 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: 2     Fields:    Translation:HumansCells
    172. 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
    173. 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: 66     Fields:    Translation:Humans
    174. 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: 41     Fields:    Translation:HumansAnimalsCells
    175. 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
    176. 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
    177. Monosomy 1p36. J Med Genet. 1999 Sep; 36(9):657-63. Slavotinek A, Shaffer LG, Shapira SK. PMID: 10507720.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCells
    178. 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
    179. 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
    180. 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
    181. 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
    182. 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
    183. 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
    184. 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: 10     Fields:    Translation:HumansCells
    185. 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
    186. 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
    187. 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.
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    188. Familial patent ductus arteriosus: a further case of CHAR syndrome. Am J Med Genet. 1997 Aug 08; 71(2):229-32. Slavotinek A, Clayton-Smith J, Super M. PMID: 9217229.
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    189. Interstitial deletion of band 3q25. J Med Genet. 1997 May; 34(5):430-2. Slavotinek AM, Huson SM, Fitchett M. PMID: 9152845.
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