Cynthia Curry, MD
Professor
Pediatrics - Fresno
School of Medicine

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..

Awards

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• Joseph St Geme Education Award, Western Society for Pediatric Research, 2020
• David W Smith Excellence in Genetic Education, American Acad of Pediatrics, 2014

Education & Training

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• Genetics UCSF 06/1976
• pediatrics University of Minnesota 06/1970
• Pediatrics University of Washington 1969
• MD Medicine Yale University Sch of Medicine 06/1967
• AB zoology Mt Holyoke College 06/1963

Interests

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• syndrome delineation
• thrombophilia
• brain malformations

Publications (54)

Top publication keywords:
ProgeriaAbnormalities, MultipleGenetics, MedicalWnt1 ProteinAcro-OsteolysisCerebellumLimb Deformities, CongenitalIntellectual DisabilityMyofibromatosisBasal Ganglia Diseases14-3-3 ProteinsCraniofacial AbnormalitiesChromosome DeletionOsteogenesis ImperfectaReceptor, Platelet-Derived Growth Factor beta

• Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.
  American journal of medical genetics. Part A 2022 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, …
• Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
  European journal of human genetics : EJHG 2022 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, …
• ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.
  American journal of human genetics 2021 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, …
• ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.
  Brain : a journal of neurology 2021 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, …
• Thinking outside "The Box": Case-based didactics for medical education and the instructional legacy of Dr John M. Graham, Jr.
  American journal of medical genetics. Part A 2021 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

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• Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
  Clinical genetics 2021 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…
• The spectrum of brain malformations and disruptions in twins.
  American journal of medical genetics. Part A 2020 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
• Recurrent constellations of embryonic malformations re-conceptualized as an overlapping group of disorders with shared pathogenesis.
  American journal of medical genetics. Part A 2020 Adam AP, Curry CJ, Hall JG, Keppler-Noreuil KM, Adam MP, Dobyns WB
• Correction: Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.
  Genetics in medicine : official journal of the American College of Medical Genetics 2020 Bashford MT, Hickey SE, Curry CJ, Toriello HV
• Addendum: ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.
  Genetics in medicine : official journal of the American College of Medical Genetics 2020 Bashford MT, Hickey SE, Curry CJ, Toriello HV, American College of Medical Genetics and Genomics (ACMG) Professional Practice and Guidelines Commit
• Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
  Frontiers in molecular neuroscience 2020 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…
• Redefining the Etiologic Landscape of Cerebellar Malformations.
  American journal of human genetics 2019 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 …
• De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
  American journal of human genetics 2019 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, …
• Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
  European journal of medical genetics 2019 Monteiro FP, Curry CJ, Hevner R, Elliott S, Fisher JH, Turocy J, Dobyns WB, Costa LA, Freitas E, Kitajima JP, Kok F
• Expansion of the phenotype of Kosaki overgrowth syndrome.
  American journal of medical genetics. Part A 2017 Minatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ
• A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.
  American journal of human genetics 2016 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, …
• Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.
  Journal of medical genetics 2015 Aldinger KA, Mendelsohn NJ, Chung BH, Zhang W, Cohn DH, Fernandez B, Alkuraya FS, Dobyns WB, Curry CJ
• A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.
  American journal of medical genetics. Part A 2015 Marcadier JL, Mears AJ, Woods EA, Fisher J, Airheart C, Qin W, Beaulieu CL, Dyment DA, Innes AM, Curry CJ, Care4Rare Canada Consortium
• Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type.
  Journal of medical genetics 2015 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
• De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
  Human mutation 2015 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, …
• A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
  Cell 2014 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, …
• Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
  American journal of human genetics 2014 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, …
• Mutations in PIK3R1 cause SHORT syndrome.
  American journal of human genetics 2013 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, …
• The duplication 17p13.3 phenotype: analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes.
  American journal of medical genetics. Part A 2013 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…
• WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
  The New England journal of medicine 2013 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, …
• ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.
  Genetics in medicine : official journal of the American College of Medical Genetics 2013 Hickey SE, Curry CJ, Toriello HV
• Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
  Nature genetics 2012 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…
• Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.
  American journal of medical genetics. Part A 2012 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
• Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region.
  American journal of medical genetics. Part A 2012 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, …
• Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.
  European journal of human genetics : EJHG 2012 Reinstein E, DeLozier CD, Simon Z, Bannykh S, Rimoin DL, Curry CJ
• Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.
  Cell 2012 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
• Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
  American journal of human genetics 2012 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
• Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.
  Human mutation 2010 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 …
• Holoprosencephaly and agnathia spectrum: Presentation of two new patients and review of the literature.
  American journal of medical genetics. Part C, Seminars in medical genetics 2010 Kauvar EF, Solomon BD, Curry CJ, van Essen AJ, Janssen N, Dutra A, Roessler E, Muenke M
• Elements of morphology: standard terminology for the lips, mouth, and oral region.
  American journal of medical genetics. Part A 2009 Carey JC, Cohen MM, Curry CJ, Devriendt K, Holmes LB, Verloes A
• 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.
  American journal of medical genetics. Part A 2008 Chitayat D, Keating S, Zand DJ, Costa T, Zackai EH, Silverman E, Tiller G, Unger S, Miller S, Kingdom J, Toi A, Curry CJ
• Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation?
  American journal of medical genetics. Part A 2008 Curry CJ, Mao R, Aston E, Mongia SK, Treisman T, Procter M, Chou B, Whitby H, South ST, Brothman AR
• Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
  American journal of medical genetics. Part A 2008 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 …
• Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.
  Science (New York, N.Y.) 2008 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, …
• Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.
  American journal of medical genetics. Part A 2007 Vatanavicharn N, Graham JM, Curry CJ, Pepkowitz S, Lachman RS, Rimoin DL, Wilcox WR
• Risk factors for perinatal arterial stroke: a study of 60 mother-child pairs.
  Pediatric neurology 2007 Curry CJ, Bhullar S, Holmes J, Delozier CD, Roeder ER, Hutchison HT
• Detection of a de novo interstitial 2q microdeletion by CGH microarray analysis in a patient with limb malformations, microcephaly and mental retardation.
  American journal of medical genetics. Part A 2007 Svensson AM, Curry CJ, South ST, Whitby H, Maxwell TM, Aston E, Fisher J, Carmack CE, Scheffer A, Abu-Shamsieh A, Brothman AR
• Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.
  Nature genetics 2006 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…
• Mental retardation: diagnosis, management, and family support.
  Current problems in pediatric and adolescent health care 2006 Johnson CP, Walker WO, Palomo-González SA, Curry CJ
• Introduction to Judith Hall Festschrift.
  American journal of medical genetics. Part A 2006 Allanson J, Curry CJ
• Schizencephaly: heterogeneous etiologies in a population of 4 million California births.
  American journal of medical genetics. Part A 2005 Curry CJ, Lammer EJ, Nelson V, Shaw GM
• Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.
  American journal of human genetics 2005 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, …
• Neonatal phenotype in Kabuki syndrome.
  American journal of medical genetics. Part A 2005 Vaux KK, Hudgins L, Bird LM, Roeder E, Curry CJ, Jones M, Jones KL
• A tribute to Bryan D. Hall: Festschrift 2003.
  American journal of medical genetics. Part A 2003 Carey JC, Curry CJ, Grix AW, Golabi M, Graham JM, Buehler BA
• Hypospadias in California: trends and descriptive epidemiology.
  Epidemiology (Cambridge, Mass.) 2003 Carmichael SL, Shaw GM, Nelson V, Selvin S, Torfs CP, Curry CJ
• Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings.
  American journal of medical genetics 2002 Elliott AM, Graham JM, Curry CJ, Pal T, Rimoin DL, Lachman RS
• Rational evaluation of the adolescent with mental retardation.
  Adolescent medicine (Philadelphia, Pa.) 2002 Curry CJ
• Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.
  Genomics 2002 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
• Fungal septicemia in patients receiving parenteral hyperalimentation.
  The New England journal of medicine 1971 Curry CR, Quie PG