Cynthia Curry, MD

Title(s)Professor, Pediatrics - Fresno
SchoolSchool of Medicine
Phone559-227-4472
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    Collapse Biography 
    Collapse Education and Training
    Mt Holyoke College, MassAB06/1963zoology
    Yale University Sch of Medicine, New Haven, CTMD06/1967Medicine
    University of Washington, Seattle1969Pediatrics
    University of Minnesota, Minneapolis06/1970pediatrics
    UCSF, San Francisco06/1976Genetics
    Collapse Awards and Honors
    American Acad of Pediatrics2014David W Smith Excellence in Genetic Education
    Western Society for Pediatric Research2020Joseph St Geme Education Award

    Collapse Overview 
    Collapse Overview
    Dr. Curry is an emeritus tenured UCSF Professor. of Pediatrics She continues to be active in both clinical and academic genetics. Dr. Curry is a graduate of Yale University School of Medicine and is Board Certified in Pediatrics and Clinical Genetics. Her research interests include syndrome delineation in the fetus and newborn, and causes of intellectual disability. She has held many national positions in both genetics and pediatrics and speaks nationally and internationally..

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    Collapse Featured Publications

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help. to make corrections and additions.
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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. Genes (Basel). 2024 Aug 06; 15(8). Borroto MC, Michaud C, Hudon C, Agrawal PB, Agre K, Applegate CD, Beggs AH, Bjornsson HT, Callewaert B, Chen MJ, Curry C, Devinsky O, Dudding-Byth T, Fagan K, Finnila CR, Gavrilova R, Genetti CA, Hiatt SM, Hildebrandt F, Wojcik MH, Kleefstra T, Kolvenbach CM, Korf BR, Kruszka P, Li H, Litwin J, Marcadier J, Platzer K, Blackburn PR, Reijnders MRF, Reutter H, Schanze I, Shieh JT, Stevens CA, Valivullah Z, van den Boogaard MJ, Klee EW, Campeau PM. PMID: 39202393; PMCID: PMC11353349.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    2. Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. 2024 Jul 17; 101216. Jurgens JA, Barry BJ, Chan WM, MacKinnon S, Whitman MC, Matos Ruiz PM, Pratt BM, England EM, Pais L, Lemire G, Groopman E, Glaze C, Russell KA, Singer-Berk M, Di Gioia SA, Lee AS, Andrews C, Shaaban S, Wirth MM, Bekele S, Toffoloni M, Bradford VR, Foster EE, Berube L, Rivera-Quiles C, Mensching FM, Sanchis-Juan A, Fu JM, Wong I, Zhao X, Wilson MW, Weisburd B, Lek M, Ocular CCDD Phenotyping Consortium, Brand H, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Robson CD, Hunter DG, Engle EC. PMID: 39033378.
      View in: PubMed   Mentions: 2     Fields:    
    3. The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients. Eur J Hum Genet. 2024 Jul; 32(7):864-870. Watts LM, Bertoli M, Attie-Bitach T, Roux N, Rausell A, Paschal CR, Zambonin JL, Curry CJ, Martin B, Tooze RS, Hawkes L, Kini U, Twigg SRF, Wilkie AOM. PMID: 38760421; PMCID: PMC11220001.
      View in: PubMed   Mentions: 1     Fields:    Translation:Humans
    4. Personal journeys to and in human genetics and dysmorphology. Am J Med Genet A. 2024 06; 194(6):e63514. Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. PMID: 38329159.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    5. Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. Eur J Hum Genet. 2023 Dec 01. Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW, Skinner C, Stapleton R, Ruaud L, Gumus E, Lakeman P, Alders M, Tedder ML, Schwartz CE, Friez MJ, Sadikovic B, Stevenson RE. PMID: 38040915.
      View in: PubMed   Mentions:    Fields:    
    6. Ear anomalies and hearing loss in patients with VACTERL association and the effect of maternal diabetes. Am J Med Genet A. 2023 Nov; 191(11):2693-2702. Galarreta CI, Hoyt E, Forero L, Curry CJ, Bird LM. PMID: 37649433.
      View in: PubMed   Mentions:    Fields:    
    7. Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families. Am J Med Genet A. 2023 07; 191(7):1900-1910. Wojcik MH, Srivastava S, Agrawal PB, Balci TB, Callewaert B, Calvo PL, Carli D, Caudle M, Colaiacovo S, Cross L, Demetriou K, Drazba K, Dutra-Clarke M, Edwards M, Genetti CA, Grange DK, Hickey SE, Isidor B, Küry S, Lachman HM, Lavillaureix A, Lyons MJ, Marcelis C, Marco EJ, Martinez-Agosto JA, Nowak C, Pizzol A, Planes M, Prijoles EJ, Riberi E, Rush ET, Russell BE, Sachdev R, Schmalz B, Shears D, Stevenson DA, Wilson K, Jansen S, de Vries BBA, Curry CJ. PMID: 37183572; PMCID: PMC10330231.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    8. Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype. Am J Hum Genet. 2023 02 02; 110(2):215-227. Hiatt SM, Trajkova S, Sebastiano MR, Partridge EC, Abidi FE, Anderson A, Ansar M, Antonarakis SE, Azadi A, Bachmann-Gagescu R, Bartuli A, Benech C, Berkowitz JL, Betti MJ, Brusco A, Cannon A, Caron G, Chen Y, Cochran ME, Coleman TF, Crenshaw MM, Cuisset L, Curry CJ, Darvish H, Demirdas S, Descartes M, Douglas J, Dyment DA, Elloumi HZ, Ermondi G, Faoucher M, Farrow EG, Felker SA, Fisher H, Hurst ACE, Joset P, Kelly MA, Kmoch S, Leadem BR, Lyons MJ, Macchiaiolo M, Magner M, Mandrile G, Mattioli F, McEown M, Meadows SK, Medne L, Meeks NJL, Montgomery S, Napier MP, Natowicz M, Newberry KM, Niceta M, Noskova L, Nowak CB, Noyes AG, Osmond M, Prijoles EJ, Pugh J, Pullano V, Quélin C, Rahimi-Aliabadi S, Rauch A, Redon S, Reymond A, Schwager CR, Sellars EA, Scheuerle AE, Shukarova-Angelovska E, Skraban C, Stolerman E, Sullivan BR, Tartaglia M, Thiffault I, Uguen K, Umaña LA, van Bever Y, van der Crabben SN, van Slegtenhorst MA, Waisfisz Q, Washington C, Rodan LH, Myers RM, Cooper GM. PMID: 36586412; PMCID: PMC9943726.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    9. Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish. Nat Commun. 2022 11 11; 13(1):6841. Fasano G, Muto V, Radio FC, Venditti M, Mosaddeghzadeh N, Coppola S, Paradisi G, Zara E, Bazgir F, Ziegler A, Chillemi G, Bertuccini L, Tinari A, Vetro A, Pantaleoni F, Pizzi S, Conti LA, Petrini S, Bruselles A, Prandi IG, Mancini C, Chandramouli B, Barth M, Bris C, Milani D, Selicorni A, Macchiaiolo M, Gonfiantini MV, Bartuli A, Mariani R, Curry CJ, Guerrini R, Slavotinek A, Iascone M, Dallapiccola B, Ahmadian MR, Lauri A, Tartaglia M. PMID: 36369169; PMCID: PMC9652361.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansAnimalsCells
    10. Exome sequencing identifies genetic variants in anophthalmia and microphthalmia. Am J Med Genet A. 2022 08; 188(8):2376-2388. Li J, Yang W, Wang YJ, Ma C, Curry CJ, McGoldrick D, Nickerson DA, Chong JX, Blue EE, Mullikin JC, Reefhuis J, Nembhard WN, Romitti PA, Werler MM, Browne ML, Olshan AF, Finnell RH, Feldkamp ML, Pangilinan F, Almli LM, Bamshad MJ, Brody LC, Jenkins MM, Shaw GM, NISC Comparative Sequencing Program, University of Washington Center for Mendelian Genomics, National Birth Defects Prevention Study. PMID: 35716026; PMCID: PMC9283271.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    11. Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711. Eur J Hum Genet. 2022 04; 30(4):420-427. Wang J, Foroutan A, Richardson E, Skinner SA, Reilly J, Kerkhof J, Curry CJ, Tarpey PS, Robertson SP, Maystadt I, Keren B, Dixon JW, Skinner C, Stapleton R, Ruaud L, Gumus E, Lakeman P, Alders M, Tedder ML, Schwartz CE, Friez MJ, Sadikovic B, Stevenson RE. PMID: 34992252; PMCID: PMC8990020.
      View in: PubMed   Mentions: 5     Fields:    Translation:HumansCells
    12. ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies. Am J Hum Genet. 2021 10 07; 108(10):2017-2023. Lemire G, Ito YA, Marshall AE, Chrestian N, Stanley V, Brady L, Tarnopolsky M, Curry CJ, Hartley T, Mears W, Derksen A, Rioux N, Laflamme N, Hutchison HT, Pais LS, Zaki MS, Sultan T, Dane AD, Care4Rare Canada Consortium, Gleeson JG, Vaz FM, Kernohan KD, Bernard G, Boycott KM. PMID: 34587489; PMCID: PMC8546048.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    13. ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. Brain. 2021 06 22; 144(5):1435-1450. Vetro A, Nielsen HN, Holm R, Hevner RF, Parrini E, Powis Z, Møller RS, Bellan C, Simonati A, Lesca G, Helbig KL, Palmer EE, Mei D, Ballardini E, Van Haeringen A, Syrbe S, Leuzzi V, Cioni G, Curry CJ, Costain G, Santucci M, Chong K, Mancini GMS, Clayton-Smith J, Bigoni S, Scheffer IE, Dobyns WB, Vilsen B, Guerrini R, ATP1A2/A3-collaborators. PMID: 33880529.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    14. Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr. Am J Med Genet A. 2021 09; 185(9):2636-2645. Sanchez-Lara PA, Grand K, Haanpää MK, Curry CJ, Wang R, Ezgü F, Rose CM, D'Cunha Burkardt D, Conway RL, Relan A, Carey JC. PMID: 33913595.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    15. Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2. Clin Genet. 2021 04; 99(4):547-557. Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV. PMID: 33381861.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCells
    16. The spectrum of brain malformations and disruptions in twins. Am J Med Genet A. 2021 09; 185(9):2690-2718. Park KB, Chapman T, Aldinger KA, Mirzaa GM, Zeiger J, Beck A, Glass IA, Hevner RF, Jansen AC, Marshall DA, Oegema R, Parrini E, Saneto RP, Curry CJ, Hall JG, Guerrini R, Leventer RJ, Dobyns WB. PMID: 33205886; PMCID: PMC8683564.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    17. Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis. Am J Med Genet A. 2020 11; 182(11):2646-2661. Adam AP, Curry CJ, Hall JG, Keppler-Noreuil KM, Adam MP, Dobyns WB. PMID: 32924308.
      View in: PubMed   Mentions: 11     Fields:    Translation:Humans
    18. Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2020 Sep; 22(9):1568. Bashford MT, Hickey SE, Curry CJ, Toriello HV. PMID: 32587351.
      View in: PubMed   Mentions:    Fields:    
    19. Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2020 12; 22(12):2125. Bashford MT, Hickey SE, Curry CJ, Toriello HV, American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Commit. PMID: 32533132.
      View in: PubMed   Mentions: 1     Fields:    
    20. Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor. Front Mol Neurosci. 2020; 13:12. Kumar R, Palmer E, Gardner AE, Carroll R, Banka S, Abdelhadi O, Donnai D, Elgersma Y, Curry CJ, Gardham A, Suri M, Malla R, Brady LI, Tarnopolsky M, Azmanov DN, Atkinson V, Black M, Baynam G, Dreyer L, Hayeems RZ, Marshall CR, Costain G, Wessels MW, Baptista J, Drummond J, Leffler M, Field M, Gecz J. PMID: 32116545; PMCID: PMC7026477.
      View in: PubMed   Mentions: 8  
    21. Redefining the Etiologic Landscape of Cerebellar Malformations. Am J Hum Genet. 2019 09 05; 105(3):606-615. Aldinger KA, Timms AE, Thomson Z, Mirzaa GM, Bennett JT, Rosenberg AB, Roco CM, Hirano M, Abidi F, Haldipur P, Cheng CV, Collins S, Park K, Zeiger J, Overmann LM, Alkuraya FS, Biesecker LG, Braddock SR, Cathey S, Cho MT, Chung BHY, Everman DB, Zarate YA, Jones JR, Schwartz CE, Goldstein A, Hopkin RJ, Krantz ID, Ladda RL, Leppig KA, McGillivray BC, Sell S, Wusik K, Gleeson JG, Nickerson DA, Bamshad MJ, Gerrelli D, Lisgo SN, Seelig G, Ishak GE, Barkovich AJ, Curry CJ, Glass IA, Millen KJ, Doherty D, Dobyns WB. PMID: 31474318; PMCID: PMC6731369.
      View in: PubMed   Mentions: 42     Fields:    Translation:Humans
    22. De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies. Am J Hum Genet. 2019 09 05; 105(3):640-657. Holt RJ, Young RM, Crespo B, Ceroni F, Curry CJ, Bellacchio E, Bax DA, Ciolfi A, Simon M, Fagerberg CR, van Binsbergen E, De Luca A, Memo L, Dobyns WB, Mohammed AA, Clokie SJH, Zazo Seco C, Jiang YH, Sørensen KP, Andersen H, Sullivan J, Powis Z, Chassevent A, Smith-Hicks C, Petrovski S, Antoniadi T, Shashi V, Gelb BD, Wilson SW, Gerrelli D, Tartaglia M, Chassaing N, Calvas P, Ragge NK. PMID: 31402090; PMCID: PMC6731360.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    23. Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan; 63(1):103624. Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F. PMID: 30690204.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansAnimals
    24. Expansion of the phenotype of Kosaki overgrowth syndrome. Am J Med Genet A. 2017 Sep; 173(9):2422-2427. Minatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ. PMID: 28639748.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansCells
    25. A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. Am J Hum Genet. 2016 06 02; 98(6):1256-1265. Twigg SRF, Hufnagel RB, Miller KA, Zhou Y, McGowan SJ, Taylor J, Craft J, Taylor JC, Santoro SL, Huang T, Hopkin RJ, Brady AF, Clayton-Smith J, Clericuzio CL, Grange DK, Groesser L, Hafner C, Horn D, Temple IK, Dobyns WB, Curry CJ, Jones MC, Wilkie AOM. PMID: 27236920; PMCID: PMC4908219.
      View in: PubMed   Mentions: 42     Fields:    Translation:HumansCells
    26. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. J Med Genet. 2016 06; 53(6):427-30. Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ. PMID: 26671912; PMCID: PMC4898782.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    27. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. Am J Med Genet A. 2016 Jan; 170A(1):11-8. Marcadier JL, Mears AJ, Woods EA, Fisher J, Airheart C, Qin W, Beaulieu CL, Dyment DA, Innes AM, Curry CJ, Care4Rare Canada Consortium. PMID: 26373900.
      View in: PubMed   Mentions: 9     Fields:    Translation:HumansCells
    28. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. J Med Genet. 2015 Jul; 52(7):476-83. Flöttmann R, Wagner J, Kobus K, Curry CJ, Savarirayan R, Nishimura G, Yasui N, Spranger J, Van Esch H, Lyons MJ, DuPont BR, Dwivedi A, Klopocki E, Horn D, Mundlos S, Spielmann M. PMID: 26032025.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    29. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62. Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. PMID: 25655089.
      View in: PubMed   Mentions: 40     Fields:    Translation:Humans
    30. A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 Sep 25; 159(1):200-214. Yamamoto S, Jaiswal M, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LELM, de Ligt J, Jhangiani SN, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan YW, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Link N, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ. PMID: 25259927; PMCID: PMC4298142.
      View in: PubMed   Mentions: 207     Fields:    Translation:HumansAnimalsCells
    31. Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. Am J Hum Genet. 2014 May 01; 94(5):734-44. McMillin MJ, Beck AE, Chong JX, Shively KM, Buckingham KJ, Gildersleeve HI, Aracena MI, Aylsworth AS, Bitoun P, Carey JC, Clericuzio CL, Crow YJ, Curry CJ, Devriendt K, Everman DB, Fryer A, Gibson K, Giovannucci Uzielli ML, Graham JM, Hall JG, Hecht JT, Heidenreich RA, Hurst JA, Irani S, Krapels IP, Leroy JG, Mowat D, Plant GT, Robertson SP, Schorry EK, Scott RH, Seaver LH, Sherr E, Splitt M, Stewart H, Stumpel C, Temel SG, Weaver DD, Whiteford M, Williams MS, Tabor HK, Smith JD, Shendure J, Nickerson DA, University of Washington Center for Mendelian Genomics, Bamshad MJ. PMID: 24726473; PMCID: PMC4067551.
      View in: PubMed   Mentions: 95     Fields:    Translation:Humans
    32. The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes. Am J Med Genet A. 2013 Aug; 161A(8):1833-52. Curry CJ, Rosenfeld JA, Grant E, Gripp KW, Anderson C, Aylsworth AS, Saad TB, Chizhikov VV, Dybose G, Fagerberg C, Falco M, Fels C, Fichera M, Graakjaer J, Greco D, Hair J, Hopkins E, Huggins M, Ladda R, Li C, Moeschler J, Nowaczyk MJ, Ozmore JR, Reitano S, Romano C, Roos L, Schnur RE, Sell S, Suwannarat P, Svaneby D, Szybowska M, Tarnopolsky M, Tervo R, Tsai AC, Tucker M, Vallee S, Wheeler FC, Zand DJ, Barkovich AJ, Aradhya S, Shaffer LG, Dobyns WB. PMID: 23813913; PMCID: PMC5517092.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansCells
    33. Mutations in PIK3R1 cause SHORT syndrome. Am J Hum Genet. 2013 Jul 11; 93(1):158-66. Dyment DA, Smith AC, Alcantara D, Schwartzentruber JA, Basel-Vanagaite L, Curry CJ, Temple IK, Reardon W, Mansour S, Haq MR, Gilbert R, Lehmann OJ, Vanstone MR, Beaulieu CL, FORGE Canada Consortium, Majewski J, Bulman DE, O'Driscoll M, Boycott KM, Innes AM. PMID: 23810382; PMCID: PMC3710754.
      View in: PubMed   Mentions: 83     Fields:    Translation:HumansCells
    34. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 09; 368(19):1809-16. Laine CM, Joeng KS, Campeau PM, Kiviranta R, Tarkkonen K, Grover M, Lu JT, Pekkinen M, Wessman M, Heino TJ, Nieminen-Pihala V, Aronen M, Laine T, Kröger H, Cole WG, Lehesjoki AE, Nevarez L, Krakow D, Curry CJ, Cohn DH, Gibbs RA, Lee BH, Mäkitie O. PMID: 23656646; PMCID: PMC3709450.
      View in: PubMed   Mentions: 175     Fields:    Translation:HumansAnimals
    35. ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. Genet Med. 2013 Feb; 15(2):153-6. Hickey SE, Curry CJ, Toriello HV. PMID: 23288205.
      View in: PubMed   Mentions: 47     Fields:    Translation:Humans
    36. Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet. 2012 Nov; 44(11):1249-54. Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC. PMID: 23023332; PMCID: PMC3545695.
      View in: PubMed   Mentions: 117     Fields:    Translation:HumansAnimalsCells
    37. Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis. Am J Med Genet A. 2012 Oct; 158A(10):2393-406. Tully HM, Dempsey JC, Ishak GE, Adam MP, Curry CJ, Sanchez-Lara P, Hunter A, Gripp KW, Allanson J, Cunniff C, Glass I, Millen KJ, Doherty D, Dobyns WB. PMID: 22965664; PMCID: PMC3448816.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    38. Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region. Am J Med Genet A. 2012 Sep; 158A(9):2139-51. Strehle EM, Yu L, Rosenfeld JA, Donkervoort S, Zhou Y, Chen TJ, Martinez JE, Fan YS, Barbouth D, Zhu H, Vaglio A, Smith R, Stevens CA, Curry CJ, Ladda RL, Fan ZJ, Fox JE, Martin JA, Abdel-Hamid HZ, McCracken EA, McGillivray BC, Masser-Frye D, Huang T. PMID: 22847869.
      View in: PubMed   Mentions: 36     Fields:    Translation:HumansCells
    39. Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features. Eur J Hum Genet. 2013 Feb; 21(2):233-6. Reinstein E, DeLozier CD, Simon Z, Bannykh S, Rimoin DL, Curry CJ. PMID: 22739343; PMCID: PMC3548259.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    40. Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication. Cell. 2012 May 11; 149(4):912-22. Dennis MY, Nuttle X, Sudmant PH, Antonacci F, Graves TA, Nefedov M, Rosenfeld JA, Sajjadian S, Malig M, Kotkiewicz H, Curry CJ, Shafer S, Shaffer LG, de Jong PJ, Wilson RK, Eichler EE. PMID: 22559943; PMCID: PMC3365555.
      View in: PubMed   Mentions: 192     Fields:    Translation:HumansAnimalsCells
    41. Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Am J Hum Genet. 2012 Mar 09; 90(3):550-7. Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM, Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D. PMID: 22387015; PMCID: PMC3309195.
      View in: PubMed   Mentions: 37     Fields:    Translation:HumansCells
    42. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct; 31(10):1142-54. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. PMID: 20672375; PMCID: PMC2947617.
      View in: PubMed   Mentions: 48     Fields:    Translation:Humans
    43. Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature. Am J Med Genet C Semin Med Genet. 2010 Feb 15; 154C(1):158-69. Kauvar EF, Solomon BD, Curry CJ, van Essen AJ, Janssen N, Dutra A, Roessler E, Muenke M. PMID: 20104613; PMCID: PMC2815073.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    44. Elements of morphology: standard terminology for the lips, mouth, and oral region. Am J Med Genet A. 2009 Jan; 149A(1):77-92. Carey JC, Cohen MM, Curry CJ, Devriendt K, Holmes LB, Verloes A. PMID: 19125428.
      View in: PubMed   Mentions: 30     Fields:    Translation:Humans
    45. Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A. 2008 Dec 01; 146A(23):3038-53. Chitayat D, Keating S, Zand DJ, Costa T, Zackai EH, Silverman E, Tiller G, Unger S, Miller S, Kingdom J, Toi A, Curry CJ. PMID: 19006208.
      View in: PubMed   Mentions: 7     Fields:    Translation:Humans
    46. Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation? Am J Med Genet A. 2008 Aug 01; 146A(15):1903-10. Curry CJ, Mao R, Aston E, Mongia SK, Treisman T, Procter M, Chou B, Whitby H, South ST, Brothman AR. PMID: 18627067.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    47. Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2. Am J Med Genet A. 2008 Jul 01; 146A(13):1637-54. Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG. PMID: 18536050; PMCID: PMC2801020.
      View in: PubMed   Mentions: 33     Fields:    Translation:HumansCells
    48. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science. 2008 Feb 08; 319(5864):816-9. Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dörfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dörr HG, Reis A. PMID: 18174396.
      View in: PubMed   Mentions: 189     Fields:    Translation:HumansCells
    49. Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1. Am J Med Genet A. 2007 Oct 01; 143A(19):2292-302. Vatanavicharn N, Graham JM, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR. PMID: 17764081.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCells
    50. Risk factors for perinatal arterial stroke: a study of 60 mother-child pairs. Pediatr Neurol. 2007 Aug; 37(2):99-107. Curry CJ, Bhullar S, Holmes J, Delozier CD, Roeder ER, Hutchison HT. PMID: 17675024.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    51. Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation. Am J Med Genet A. 2007 Jun 15; 143A(12):1348-53. Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR. PMID: 17506097.
      View in: PubMed   Mentions: 8     Fields:    Translation:HumansCells
    52. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet. 2007 Jan; 39(1):75-9. Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. PMID: 17143282.
      View in: PubMed   Mentions: 214     Fields:    Translation:HumansAnimalsCells
    53. Mental retardation: diagnosis, management, and family support. Curr Probl Pediatr Adolesc Health Care. 2006 Apr; 36(4):126-65. Johnson CP, Walker WO, Palomo-González SA, Curry CJ. PMID: 16564466.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    54. Introduction to Judith Hall Festschrift. Am J Med Genet A. 2006 Jan 15; 140(2):111-3. Allanson J, Curry CJ. PMID: 16353240.
      View in: PubMed   Mentions:    Fields:    
    55. Schizencephaly: heterogeneous etiologies in a population of 4 million California births. Am J Med Genet A. 2005 Aug 30; 137(2):181-9. Curry CJ, Lammer EJ, Nelson V, Shaw GM. PMID: 16059942.
      View in: PubMed   Mentions: 41     Fields:    Translation:Humans
    56. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet. 2005 Apr; 76(4):609-22. Johnston JJ, Olivos-Glander I, Killoran C, Elson E, Turner JT, Peters KF, Abbott MH, Aughton DJ, Aylsworth AS, Bamshad MJ, Booth C, Curry CJ, David A, Dinulos MB, Flannery DB, Fox MA, Graham JM, Grange DK, Guttmacher AE, Hannibal MC, Henn W, Hennekam RC, Holmes LB, Hoyme HE, Leppig KA, Lin AE, Macleod P, Manchester DK, Marcelis C, Mazzanti L, McCann E, McDonald MT, Mendelsohn NJ, Moeschler JB, Moghaddam B, Neri G, Newbury-Ecob R, Pagon RA, Phillips JA, Sadler LS, Stoler JM, Tilstra D, Walsh Vockley CM, Zackai EH, Zadeh TM, Brueton L, Black GC, Biesecker LG. PMID: 15739154; PMCID: PMC1199298.
      View in: PubMed   Mentions: 97     Fields:    Translation:HumansCells
    57. Neonatal phenotype in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30; 132A(3):244-7. Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL. PMID: 15690369.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    58. A tribute to Bryan D. Hall: Festschrift 2003. Am J Med Genet A. 2003 Nov 15; 123A(1):1-4. Carey JC, Curry CJ, Grix AW, Golabi M, Graham JM, Buehler BA. PMID: 14556241.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    59. Hypospadias in California: trends and descriptive epidemiology. Epidemiology. 2003 Nov; 14(6):701-6. Carmichael SL, Shaw GM, Nelson V, Selvin S, Torfs CP, Curry CJ. PMID: 14569186.
      View in: PubMed   Mentions: 36     Fields:    Translation:Humans
    60. Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings. Am J Med Genet. 2002 Dec 15; 113(4):351-61. Elliott AM, Graham JM, Curry CJ, Pal T, Rimoin DL, Lachman RS. PMID: 12457407.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    61. Rational evaluation of the adolescent with mental retardation. Adolesc Med. 2002 Jun; 13(2):331-43, vii. Curry CJ. PMID: 11986040.
      View in: PubMed   Mentions: 3     Fields:    Translation:Humans
    62. Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome. Genomics. 2002 Feb; 79(2):186-96. Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. PMID: 11829489.
      View in: PubMed   Mentions: 6     Fields:    Translation:HumansAnimalsCells
    63. Fungal septicemia in patients receiving parenteral hyperalimentation. N Engl J Med. 1971 11 25; 285(22):1221-5. Curry CR, Quie PG. PMID: 5000319.
      View in: PubMed   Mentions: 61     Fields:    Translation:HumansAnimals
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