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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.
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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.
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3 Fields:
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HumansCells
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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.
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Humans
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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.
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6 Fields:
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HumansAnimalsCells
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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.
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1 Fields:
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Humans
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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.
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2 Fields:
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HumansCells
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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.
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2 Fields:
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Humans
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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.
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3 Fields:
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Humans
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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.
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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.
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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.
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5
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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.
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22 Fields:
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Humans
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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.
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13 Fields:
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Humans
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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.
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4 Fields:
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HumansAnimals
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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.
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13 Fields:
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HumansCells
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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.
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35 Fields:
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HumansCells
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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.
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19 Fields:
Translation:
Humans
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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.
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6 Fields:
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HumansCells
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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.
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5 Fields:
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HumansCells
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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.
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29 Fields:
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Humans
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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.
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168 Fields:
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HumansAnimalsCells
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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.
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73 Fields:
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Humans
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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.
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67 Fields:
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HumansCells
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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.
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26 Fields:
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HumansCells
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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.
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PubMed Mentions:
146 Fields:
Translation:
HumansAnimals
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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.
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PubMed Mentions:
37 Fields:
Translation:
Humans
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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.
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105 Fields:
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HumansAnimalsCells
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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.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
29 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
6 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
152 Fields:
Translation:
HumansAnimalsCells
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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.
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PubMed Mentions:
32 Fields:
Translation:
HumansCells
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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.
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43 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
7 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
27 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
173 Fields:
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HumansCells
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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.
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PubMed Mentions:
7 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
15 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
6 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
199 Fields:
Translation:
HumansAnimalsCells
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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.
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PubMed Mentions:
2 Fields:
Translation:
Humans
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Introduction to Judith Hall Festschrift. Am J Med Genet A. 2006 Jan 15; 140(2):111-3.
Allanson J, Curry CJ. PMID: 16353240.
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PubMed Mentions: Fields:
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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.
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PubMed Mentions:
34 Fields:
Translation:
Humans
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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.
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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.
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7 Fields:
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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.
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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.
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36 Fields:
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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.
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3 Fields:
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Rational evaluation of the adolescent with mental retardation. Adolesc Med. 2002 Jun; 13(2):331-43, vii.
Curry CJ. PMID: 11986040.
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3 Fields:
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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.
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6 Fields:
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Fungal septicemia in patients receiving parenteral hyperalimentation. N Engl J Med. 1971 Nov; 285(22):1221-5.
Curry CR, Quie PG. PMID: 5000319.
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61 Fields:
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HumansAnimals