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Items: 1 to 50 of 368

1.

Emerging evidence that medical and surgical interventions improve the survival and outcome in the trisomy 13 and 18 syndromes.

Carey JC.

Am J Med Genet A. 2019 Oct 14. doi: 10.1002/ajmg.a.61370. [Epub ahead of print] No abstract available.

PMID:
31609083
2.

Soil Warming Accelerates Biogeochemical Silica Cycling in a Temperate Forest.

Gewirtzman J, Tang J, Melillo JM, Werner WJ, Kurtz AC, Fulweiler RW, Carey JC.

Front Plant Sci. 2019 Sep 11;10:1097. doi: 10.3389/fpls.2019.01097. eCollection 2019.

3.

Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.

Pekkinen M, Terhal PA, Botto LD, Henning P, Mäkitie RE, Roschger P, Jain A, Kol M, Kjellberg MA, Paschalis EP, van Gassen K, Murray M, Bayrak-Toydemir P, Magnusson MK, Jans J, Kausar M, Carey JC, Somerharju P, Lerner UH, Olkkonen VM, Klaushofer K, Holthuis JC, Mäkitie O.

JCI Insight. 2019 Apr 4;4(7). pii: 126180. doi: 10.1172/jci.insight.126180. eCollection 2019 Apr 4.

4.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network, Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B.

Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14.

5.

Exposure to group B Streptococcal antibiotic prophylaxis and early childhood body mass index in a vaginal birth cohort.

Metz TD, McKinney J, Allshouse AA, Knierim SD, Carey JC, Heyborne KD.

J Matern Fetal Neonatal Med. 2019 Feb 7:1-6. doi: 10.1080/14767058.2019.1571575. [Epub ahead of print]

PMID:
30651010
6.

Testicular Seminoma in a Transgender Woman: A Case Report.

Kvach EJ, Hyer JS, Carey JC, Bowers M.

LGBT Health. 2019 Jan;6(1):40-42. doi: 10.1089/lgbt.2018.0173. No abstract available.

PMID:
30650051
7.

Solid tumor screening recommendations in trisomy 18.

Farmakis SG, Barnes AM, Carey JC, Braddock SR.

Am J Med Genet A. 2019 Mar;179(3):455-466. doi: 10.1002/ajmg.a.61029. Epub 2019 Jan 13.

PMID:
30637956
8.

Multiple Congenital Anomalies and Global Developmental Delay in a Patient with Interstitial 6q25.2q26 Deletion: A Diagnostic Odyssey.

Paulraj P, Palumbos JC, Openshaw A, Carey JC, Toydemir RM.

Cytogenet Genome Res. 2018;156(4):191-196. doi: 10.1159/000494871. Epub 2018 Nov 16.

PMID:
30439704
9.

Mortality and Resource Use Following Cardiac Interventions in Children with Trisomy 13 and Trisomy 18 and Congenital Heart Disease.

Domingo L, Carey JC, Eckhauser A, Wilkes J, Menon SC.

Pediatr Cardiol. 2019 Feb;40(2):349-356. doi: 10.1007/s00246-018-2001-x. Epub 2018 Oct 5.

PMID:
30291384
10.

Risk of hepatic neoplasms in Wolf-Hirschhorn syndrome (4p-): Four new cases and review of the literature.

Battaglia A, Calhoun ARUL, Lortz A, Carey JC.

Am J Med Genet A. 2018 Nov;176(11):2389-2394. doi: 10.1002/ajmg.a.40469. Epub 2018 Oct 5. Review.

PMID:
30289612
11.

M. Michael Cohen, Jr.: Author, diagnostician, geneticist, teacher, mentor, syndrome scholar extraordinaire (1937-2018).

Carey JC, Hennekam RCM, Lin AE, Barr M Jr.

Am J Med Genet A. 2018 Aug;176(8):1703-1705. doi: 10.1002/ajmg.a.38845. Epub 2018 Jul 28. No abstract available.

12.

Training Methods for Delivering Difficult News in Genetic Counseling and Genetics Residency Training Programs.

Andoni L, Hobson WL, Carey JC, Dent KM.

J Genet Couns. 2018 Dec;27(6):1497-1505. doi: 10.1007/s10897-018-0271-3. Epub 2018 Jun 27.

PMID:
29951717
13.

Author Correction: Crowther et al. reply.

Crowther TW, Machmuller MB, Carey JC, Allison SD, Blair JM, Bridgham SD, Burton AJ, Dijkstra FA, Elberling B, Estiarte M, Larsen KS, Laudon H, Lupascu M, Marhan S, Mohan J, Niu S, Peñuelas JJ, Schmidt IK, Templer PH, Kröel-Dulay G, Frey S, Bradford MA.

Nature. 2018 Aug;560(7716):E1. doi: 10.1038/s41586-018-0192-1.

14.

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.

DeMille D, Carlston CM, Tam OH, Palumbos JC, Stalker HJ, Mao R, Zori RT, Viskochil DH, Park AH, Carey JC.

Am J Med Genet A. 2018 Apr;176(4):945-950. doi: 10.1002/ajmg.a.38648.

PMID:
29575629
15.

A survey of antiepileptic drug responses identifies drugs with potential efficacy for seizure control in Wolf-Hirschhorn syndrome.

Ho KS, Markham LM, Twede H, Lortz A, Olson LM, Sheng X, Weng C, Wassman ER 3rd, Newcomb T, Wassman ER, Carey JC, Battaglia A.

Epilepsy Behav. 2018 Apr;81:55-61. doi: 10.1016/j.yebeh.2017.12.008. Epub 2018 Mar 20.

16.

Crowther et al. reply.

Crowther TW, Machmuller MB, Carey JC, Allison SD, Blair JM, Bridgham SD, Burton AJ, Dijkstra FA, Elberling B, Estiarte M, Larsen KS, Laudon H, Lupascu M, Marhan S, Mohan J, Niu S, J Peñuelas J, Schmidt IK, Templer PH, Kröel-Dulay G, Frey S, Bradford MA.

Nature. 2018 Feb 21;554(7693):E7-E8. doi: 10.1038/nature25746. No abstract available. Erratum in: Nature. 2018 Jun 6;:.

17.

Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2.

Peron A, Vignoli A, Briola F, Morenghi E, Tansini L, Alfano RM, Bulfamante G, Terraneo S, Ghelma F, Banderali G, Viskochil DH, Carey JC, Canevini MP; TSC Study Group of the San Paolo Hospital of Milan.

Eur J Med Genet. 2018 Jul;61(7):403-410. doi: 10.1016/j.ejmg.2018.02.005. Epub 2018 Feb 9.

PMID:
29432982
18.

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.

Clements CC, Wenger TL, Zoltowski AR, Bertollo JR, Miller JS, de Marchena AB, Mitteer LM, Carey JC, Yerys BE, Zackai EH, Emanuel BS, McDonald-McGinn DM, Schultz RT.

Mol Autism. 2017 Oct 27;8:58. doi: 10.1186/s13229-017-0171-7. eCollection 2017.

19.

Clinical and risk factor analysis of cloacal defects in the National Birth Defects Prevention Study.

Keppler-Noreuil KM, Conway KM, Shen D, Rhoads AJ, Carey JC, Romitti PA; National Birth Defects Prevention Study.

Am J Med Genet A. 2017 Nov;173(11):2873-2885. doi: 10.1002/ajmg.a.38469. Epub 2017 Sep 28.

20.

The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

Shen W, Heeley JM, Carlston CM, Acuna-Hidalgo R, Nillesen WM, Dent KM, Douglas GV, Levine KL, Bayrak-Toydemir P, Marcelis CL, Shinawi M, Carey JC.

Am J Med Genet A. 2017 Nov;173(11):3022-3028. doi: 10.1002/ajmg.a.38485. Epub 2017 Sep 21.

PMID:
28941052
21.

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.

PMID:
28767187
22.

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.

PMID:
28742285
23.

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.

24.

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.

25.

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 Aug;173(8):2007-2073. doi: 10.1002/ajmg.a.38229. Epub 2017 May 24.

PMID:
28544249
26.

Anthropocene survival of southern New England's salt marshes.

Watson EB, Raposa KB, Carey JC, Wigand C, Warren RS.

Estuaries Coast. 2017 May 1;40(3):617-625. doi: 10.1007/s12237-016-0166-1.

27.

Contrasting decadal-scale changes in elevation and vegetation in two Long Island Sound salt marshes.

Carey JC, Raposa KB, Wigand C, Warren RS.

Estuaries Coast. 2017 May 1;40(3):651-661. doi: 10.1007/s12237-015-0059-8.

28.

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.

PMID:
28371429
29.

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.

PMID:
28371085
30.

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.

31.

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.

32.

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.

33.

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.

PMID:
27792865
34.

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. Review.

PMID:
27643592
35.

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.

PMID:
27639443
36.

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. Review. No abstract available.

PMID:
27566680
37.

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. Review.

PMID:
27557275
38.

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.

PMID:
27549381
39.

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.

PMID:
27282419
40.

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.

41.

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.

PMID:
27119594
42.

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.

PMID:
26955783
43.

Variation in primary cesarean delivery rates by individual physician within a single-hospital laborist model.

Metz TD, Allshouse AA, Gilbert SAB, Doyle R, Tong A, Carey JC.

Am J Obstet Gynecol. 2016 Apr;214(4):531.e1-531.e6. doi: 10.1016/j.ajog.2016.01.002. Epub 2016 Feb 26.

44.

Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.

Ho KS, South ST, Lortz A, Hensel CH, Sdano MR, Vanzo RJ, Martin MM, Peiffer A, Lambert CG, Calhoun A, Carey JC, Battaglia A.

J Med Genet. 2016 Apr;53(4):256-63. doi: 10.1136/jmedgenet-2015-103626. Epub 2016 Jan 8.

45.

Advances in the Understanding of the Genetic Causes of Hearing Loss in Children Inform a Rational Approach to Evaluation.

Carey JC, Palumbos JC.

Indian J Pediatr. 2016 Oct;83(10):1150-6. doi: 10.1007/s12098-015-1941-x. Epub 2016 Jan 8. Review.

PMID:
26743077
46.

Genetic differentials of child abuse: Is your case rare or real?

Shur N, Carey JC.

Am J Med Genet C Semin Med Genet. 2015 Dec;169(4):281-8. doi: 10.1002/ajmg.c.31464. Epub 2015 Oct 29.

PMID:
26513547
47.

Clinical presentation and survival in a population-based cohort of infants with gastroschisis in Utah, 1997-2011.

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

Am J Med Genet A. 2016 Feb;170A(2):306-315. doi: 10.1002/ajmg.a.37437. Epub 2015 Oct 16.

PMID:
26473400
48.

Wolf-Hirschhorn Syndrome.

Battaglia A, Carey JC, South ST.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2002 Apr 29 [updated 2015 Aug 20].

49.

Does 17-alpha hydroxyprogesterone caproate prevent recurrent preterm birth in obese women?

Heyborne KD, Allshouse AA, Carey JC.

Am J Obstet Gynecol. 2015 Dec;213(6):844.e1-6. doi: 10.1016/j.ajog.2015.08.014. Epub 2015 Aug 12.

50.

Wolf-Hirschhorn syndrome: A review and update.

Battaglia A, Carey JC, South ST.

Am J Med Genet C Semin Med Genet. 2015 Sep;169(3):216-23. doi: 10.1002/ajmg.c.31449. Epub 2015 Aug 4. Review.

PMID:
26239400

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