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Phenotype analysis of congenital and neurodevelopmental disorders in the next generation sequencing era.

Carey JC.

Am J Med Genet C Semin Med Genet. 2017 Sep;175(3):320-328. doi: 10.1002/ajmg.c.31568. Epub 2017 Aug 2.


Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.

Carlston CM, Afify ZA, Palumbos JC, Bagley H, Barbagelata C, Wooderchak-Donahue WL, Mao R, Carey JC.

Am J Med Genet A. 2017 Oct;173(10):2622-2627. doi: 10.1002/ajmg.a.38360. Epub 2017 Jul 25.


A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome.

Di Gioia SA, Connors S, Matsunami N, Cannavino J, Rose MF, Gilette NM, Artoni P, de Macena Sobreira NL, Chan WM, Webb BD, Robson CD, Cheng L, Van Ryzin C, Ramirez-Martinez A, Mohassel P, Leppert M, Scholand MB, Grunseich C, Ferreira CR, Hartman T, Hayes IM, Morgan T, Markie DM, Fagiolini M, Swift A, Chines PS, Speck-Martins CE, Collins FS, Jabs EW, Bönnemann CG, Olson EN; Moebius Syndrome Research Consortium, Carey JC, Robertson SP, Manoli I, Engle EC.

Nat Commun. 2017 Jul 6;8:16077. doi: 10.1038/ncomms16077.


Etiology and clinical presentation of birth defects: population based study.

Feldkamp ML, Carey JC, Byrne JLB, Krikov S, Botto LD.

BMJ. 2017 May 30;357:j2249. doi: 10.1136/bmj.j2249.


37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

Keppler-Noreuil KM, Martinez-Agosto JA, Hudgins L, Carey JC.

Am J Med Genet A. 2017 May 24:2007-2073. doi: 10.1002/ajmg.a.38229. [Epub ahead of print]


Introduction Special Series: Professor John M. Opitz, Founding Editor of AJMG, Awarded the Order of Merit from the Federal Republic of Germany.

Carey JC, Clark EB.

Am J Med Genet A. 2017 May;173(5):1143-1144. doi: 10.1002/ajmg.a.38226. Epub 2017 Mar 28. No abstract available.


DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U.

Am J Med Genet A. 2017 May;173(5):1369-1373. doi: 10.1002/ajmg.a.38164. Epub 2017 Mar 29.


Congenital Chylous Ascites and Ehlers-Danlos Syndrome Type VI.

Ermarth AK, Pohl J, Esty B, Sempler JK, Carey JC, O'Gorman MA.

ACG Case Rep J. 2016 Dec 21;3(4):e186. doi: 10.14309/crj.2016.159. eCollection 2016 Aug.


Quantifying global soil carbon losses in response to warming.

Crowther TW, Todd-Brown KE, Rowe CW, Wieder WR, Carey JC, Machmuller MB, Snoek BL, Fang S, Zhou G, Allison SD, Blair JM, Bridgham SD, Burton AJ, Carrillo Y, Reich PB, Clark JS, Classen AT, Dijkstra FA, Elberling B, Emmett BA, Estiarte M, Frey SD, Guo J, Harte J, Jiang L, Johnson BR, Kröel-Dulay G, Larsen KS, Laudon H, Lavallee JM, Luo Y, Lupascu M, Ma LN, Marhan S, Michelsen A, Mohan J, Niu S, Pendall E, Peñuelas J, Pfeifer-Meister L, Poll C, Reinsch S, Reynolds LL, Schmidt IK, Sistla S, Sokol NW, Templer PH, Treseder KK, Welker JM, Bradford MA.

Nature. 2016 Nov 30;540(7631):104-108. doi: 10.1038/nature20150.


Temperature response of soil respiration largely unaltered with experimental warming.

Carey JC, Tang J, Templer PH, Kroeger KD, Crowther TW, Burton AJ, Dukes JS, Emmett B, Frey SD, Heskel MA, Jiang L, Machmuller MB, Mohan J, Panetta AM, Reich PB, Reinsch S, Wang X, Allison SD, Bamminger C, Bridgham S, Collins SL, de Dato G, Eddy WC, Enquist BJ, Estiarte M, Harte J, Henderson A, Johnson BR, Larsen KS, Luo Y, Marhan S, Melillo JM, Peñuelas J, Pfeifer-Meister L, Poll C, Rastetter E, Reinmann AB, Reynolds LL, Schmidt IK, Shaver GR, Strong AL, Suseela V, Tietema A.

Proc Natl Acad Sci U S A. 2016 Nov 29;113(48):13797-13802. Epub 2016 Nov 14.


Much ado about something 2: Reflections on the state of the American Journal of Medical Genetics 2016.

Carey JC.

Am J Med Genet A. 2016 Dec;170(12):3067-3068. doi: 10.1002/ajmg.a.38037. Epub 2016 Oct 28. No abstract available.


Perspectives on the care and advances in the management of children with trisomy 13 and 18.

Carey JC, Kosho T.

Am J Med Genet C Semin Med Genet. 2016 Sep;172(3):249-50. doi: 10.1002/ajmg.c.31527.


Mycophenolate mofetil embryopathy: A newly recognized teratogenic syndrome.

Perez-Aytes A, Marin-Reina P, Boso V, Ledo A, Carey JC, Vento M.

Eur J Med Genet. 2017 Jan;60(1):16-21. doi: 10.1016/j.ejmg.2016.09.014. Epub 2016 Sep 14.


Wilms tumor and trisomy 18: Is there an association?

Carey JC, Barnes AM.

Am J Med Genet C Semin Med Genet. 2016 Sep;172(3):307-8. doi: 10.1002/ajmg.c.31523. Epub 2016 Aug 26. No abstract available.


Shared decision making and the pathways approach in the prenatal and postnatal management of the trisomy 13 and trisomy 18 syndromes.

Andrews SE, Downey AG, Showalter DS, Fitzgerald H, Showalter VP, Carey JC, Hulac P.

Am J Med Genet C Semin Med Genet. 2016 Sep;172(3):257-63. doi: 10.1002/ajmg.c.31524. Epub 2016 Aug 24.


Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.

Braddock SR, South ST, Schiffman JD, Longhurst M, Rowe LR, Carey JC.

Am J Med Genet A. 2016 Oct;170(10):2580-6. doi: 10.1002/ajmg.a.37870. Epub 2016 Aug 23.


Deletion 2q37 syndrome: Cognitive-behavioral trajectories and autistic features related to breakpoint and deletion size.

Fisch GS, Falk RE, Carey JC, Imitola J, Sederberg M, Caravalho KS, South S.

Am J Med Genet A. 2016 Sep;170(9):2282-91. doi: 10.1002/ajmg.a.37782. Epub 2016 Jun 9.


The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.

Hartung AM, Swensen J, Uriz IE, Lapin M, Kristjansdottir K, Petersen US, Bang JM, Guerra B, Andersen HS, Dobrowolski SF, Carey JC, Yu P, Vaughn C, Calhoun A, Larsen MR, Dyrskjøt L, Stevenson DA, Andresen BS.

PLoS Genet. 2016 May 19;12(5):e1006039. doi: 10.1371/journal.pgen.1006039. eCollection 2016 May.


36th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2015 annual meeting.

Gripp KW, Adam MP, Hudgins L, Carey JC.

Am J Med Genet A. 2016 Jul;170(7):1665-726. doi: 10.1002/ajmg.a.37600. Epub 2016 Apr 27.


Does medical intervention affect outcome in infants with trisomy 18 or trisomy 13?

Kosho T, Carey JC.

Am J Med Genet A. 2016 Apr;170A(4):847-9. doi: 10.1002/ajmg.a.37610. Epub 2016 Mar 8. No abstract available.


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