Cynthia Curry, MD

Professor Emeritus
Pediatrics - Fresno
+1 559 227-4472

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..

Publications: 

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia.

American journal of medical genetics. Part A

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

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.

European journal of human genetics : EJHG

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

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

American journal of human genetics

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

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

Brain : a journal of neurology

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

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

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

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.

Clinical genetics

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

The spectrum of brain malformations and disruptions in twins.

American journal of medical genetics. Part A

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

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

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

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

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

Redefining the Etiologic Landscape of Cerebellar Malformations.

American journal of human genetics

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

De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.

American journal of human genetics

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

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

European journal of medical genetics

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

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

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

Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations.

Journal of medical genetics

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

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

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

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

A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.

Cell

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

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

American journal of human genetics

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

Mutations in PIK3R1 cause SHORT syndrome.

American journal of human genetics

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

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

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

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

The New England journal of medicine

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

ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing.

Genetics in medicine : official journal of the American College of Medical Genetics

Hickey SE, Curry CJ, Toriello HV

Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Nature genetics

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

Beyond Gómez-López-Hernández syndrome: recurring phenotypic themes in rhombencephalosynapsis.

American journal of medical genetics. Part A

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

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

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

Reinstein E, DeLozier CD, Simon Z, Bannykh S, Rimoin DL, Curry CJ

Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication.

Cell

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

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

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

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

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

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

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

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

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

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism.

Science (New York, N.Y.)

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

Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.

American journal of medical genetics. Part A

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

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

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

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

Mental retardation: diagnosis, management, and family support.

Current problems in pediatric and adolescent health care

Johnson CP, Walker WO, Palomo-González SA, Curry CJ

Introduction to Judith Hall Festschrift.

American journal of medical genetics. Part A

Allanson J, Curry CJ

Schizencephaly: heterogeneous etiologies in a population of 4 million California births.

American journal of medical genetics. Part A

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

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

Neonatal phenotype in Kabuki syndrome.

American journal of medical genetics. Part A

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

Carey JC, Curry CJ, Grix AW, Golabi M, Graham JM, Buehler BA

Hypospadias in California: trends and descriptive epidemiology.

Epidemiology (Cambridge, Mass.)

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

Elliott AM, Graham JM, Curry CJ, Pal T, Rimoin DL, Lachman RS

Rational evaluation of the adolescent with mental retardation.

Adolescent medicine (Philadelphia, Pa.)

Curry CJ

Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome.

Genomics

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

Curry CR, Quie PG