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1.

Snyder-Robinson Syndrome.

Schwartz CE, Peron A, Kutler MJ.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2013 Jun 27 [updated 2020 Feb 13].

2.

(R,R)-1,12-Dimethylspermine can mitigate abnormal spermidine accumulation in Snyder-Robinson syndrome.

Murray Stewart T, Khomutov M, Foley JR, Guo X, Holbert CE, Dunston TT, Schwartz CE, Gabrielson K, Khomutov A, Casero RA Jr.

J Biol Chem. 2020 Jan 29. pii: jbc.RA119.011572. doi: 10.1074/jbc.RA119.011572. [Epub ahead of print]

3.

Does response shift impact interpretation of change even among scales developed using item response theory?

Schwartz CE, Stucky BD, Michael W, Rapkin BD.

J Patient Rep Outcomes. 2020 Jan 23;4(1):8. doi: 10.1186/s41687-019-0162-x.

4.

Phenotypic and molecular description of an individual with a disruptive variant in the SULF2 gene.

Kirola L, Edgar-Zarate CL, Rook B, Rowell AC, Wood T, Uchimura K, Schwartz CE, Zarate YA.

Clin Dysmorphol. 2019 Dec 13. doi: 10.1097/MCD.0000000000000309. [Epub ahead of print] No abstract available.

PMID:
31895056
5.

Clark-Baraitser syndrome is associated with a nonsense alteration in the autosomal gene TRIP12.

Louie RJ, Friez MJ, Skinner C, Baraitser M, Clark RD, Schwartz CE, Stevenson RE.

Am J Med Genet A. 2020 Mar;182(3):595-596. doi: 10.1002/ajmg.a.61443. Epub 2019 Dec 8. No abstract available.

PMID:
31814248
6.

Positive emotions despite substantial burden: The alchemy of haemophilia caregiving.

Schwartz CE, Stark RB, Stucky BD, Michael W, Rapkin BD.

Haemophilia. 2020 Jan;26(1):86-96. doi: 10.1111/hae.13874. Epub 2019 Dec 4.

PMID:
31797497
8.

X-linked intellectual disability: Phenotypic expression in carrier females.

Ziats CA, Schwartz CE, Gecz J, Shaw M, Field MJ, Stevenson RE, Neri G.

Clin Genet. 2019 Nov 8. doi: 10.1111/cge.13667. [Epub ahead of print]

PMID:
31705537
9.

Abnormalities in the genes that encode Large Amino Acid Transporters increase the risk of Autism Spectrum Disorder.

Cascio L, Chen CF, Pauly R, Srikanth S, Jones K, Skinner CD, Stevenson RE, Schwartz CE, Boccuto L.

Mol Genet Genomic Med. 2020 Jan;8(1):e1036. doi: 10.1002/mgg3.1036. Epub 2019 Nov 7.

10.

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.

Poeta L, Padula A, Attianese B, Valentino M, Verrillo L, Filosa S, Shoubridge C, Barra A, Schwartz CE, Christensen J, van Bokhoven H, Helin K, Lioi MB, Collombat P, Gecz J, Altucci L, Di Schiavi E, Miano MG.

Hum Mol Genet. 2019 Dec 15;28(24):4089-4102. doi: 10.1093/hmg/ddz254.

PMID:
31691806
11.

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.

Guo H, Bettella E, Marcogliese PC, Zhao R, Andrews JC, Nowakowski TJ, Gillentine MA, Hoekzema K, Wang T, Wu H, Jangam S, Liu C, Ni H, Willemsen MH, van Bon BW, Rinne T, Stevens SJC, Kleefstra T, Brunner HG, Yntema HG, Long M, Zhao W, Hu Z, Colson C, Richard N, Schwartz CE, Romano C, Castiglia L, Bottitta M, Dhar SU, Erwin DJ, Emrick L, Keren B, Afenjar A, Zhu B, Bai B, Stankiewicz P, Herman K; University of Washington Center for Mendelian Genomics, Mercimek-Andrews S, Juusola J, Wilfert AB, Abou Jamra R, Büttner B, Mefford HC, Muir AM, Scheffer IE, Regan BM, Malone S, Gecz J, Cobben J, Weiss MM, Waisfisz Q, Bijlsma EK, Hoffer MJV, Ruivenkamp CAL, Sartori S, Xia F, Rosenfeld JA, Bernier RA, Wangler MF, Yamamoto S, Xia K, Stegmann APA, Bellen HJ, Murgia A, Eichler EE.

Nat Commun. 2019 Oct 15;10(1):4679. doi: 10.1038/s41467-019-12435-8.

12.

The complete loss of function of the SMS gene results in a severe form of Snyder-Robinson syndrome.

Larcher L, Norris JW, Lejeune E, Buratti J, Mignot C, Garel C, Keren B, Schwartz CE, Whalen S.

Eur J Med Genet. 2019 Sep 30:103777. doi: 10.1016/j.ejmg.2019.103777. [Epub ahead of print]

PMID:
31580924
13.

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

Castelluccio VJ, Vetrini F, Lynnes T, Jones J, Holloway L, Belonis A, Breman AM, Graham BH, Sapp K, Wilson T, Schwartz CE, Pratt VM, Weaver DD.

Am J Med Genet A. 2019 Dec;179(12):2357-2364. doi: 10.1002/ajmg.a.61353. Epub 2019 Sep 12.

PMID:
31512387
14.

Redefining the Etiologic Landscape of Cerebellar Malformations.

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.

Am J Hum Genet. 2019 Sep 5;105(3):606-615. doi: 10.1016/j.ajhg.2019.07.019. Epub 2019 Aug 29.

PMID:
31474318
15.

Patient-reported outcomes in spine surgery: past, current, and future directions.

Finkelstein JA, Schwartz CE.

J Neurosurg Spine. 2019 Aug 1;31(2):155-164. doi: 10.3171/2019.1.SPINE18770. Review.

PMID:
31370009
16.

Advancing quality-of-life research by deepening our understanding of response shift: a unifying theory of appraisal.

Rapkin BD, Schwartz CE.

Qual Life Res. 2019 Oct;28(10):2623-2630. doi: 10.1007/s11136-019-02248-z. Epub 2019 Jul 18.

PMID:
31321672
17.
18.

Sympathetic neural responsiveness to sleep deprivation in older adults: sex differences.

Carter JR, Fonkoue IT, Greenlund IM, Schwartz CE, Mokhlesi B, Smoot CA.

Am J Physiol Heart Circ Physiol. 2019 Aug 1;317(2):H315-H322. doi: 10.1152/ajpheart.00232.2019. Epub 2019 May 31.

PMID:
31149842
19.

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Bend EG, Aref-Eshghi E, Everman DB, Rogers RC, Cathey SS, Prijoles EJ, Lyons MJ, Davis H, Clarkson K, Gripp KW, Li D, Bhoj E, Zackai E, Mark P, Hakonarson H, Demmer LA, Levy MA, Kerkhof J, Stuart A, Rodenhiser D, Friez MJ, Stevenson RE, Schwartz CE, Sadikovic B.

Clin Epigenetics. 2019 Apr 27;11(1):64. doi: 10.1186/s13148-019-0658-5.

20.

ATP6AP2 variant impairs CNS development and neuronal survival to cause fulminant neurodegeneration.

Hirose T, Cabrera-Socorro A, Chitayat D, Lemonnier T, Féraud O, Cifuentes-Diaz C, Gervasi N, Mombereau C, Ghosh T, Stoica L, Bacha JDA, Yamada H, Lauterbach MA, Guillon M, Kaneko K, Norris JW, Siriwardena K, Blasér S, Teillon J, Mendoza-Londono R, Russeau M, Hadoux J, Ito S, Corvol P, Matheus MG, Holden KR, Takei K, Emiliani V, Bennaceur-Griscelli A, Schwartz CE, Nguyen G, Groszer M.

J Clin Invest. 2019 Apr 15;129(5):2145-2162. doi: 10.1172/JCI79990. eCollection 2019 Apr 15.

21.

Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.

Aref-Eshghi E, Bend EG, Colaiacovo S, Caudle M, Chakrabarti R, Napier M, Brick L, Brady L, Carere DA, Levy MA, Kerkhof J, Stuart A, Saleh M, Beaudet AL, Li C, Kozenko M, Karp N, Prasad C, Siu VM, Tarnopolsky MA, Ainsworth PJ, Lin H, Rodenhiser DI, Krantz ID, Deardorff MA, Schwartz CE, Sadikovic B.

Am J Hum Genet. 2019 Apr 4;104(4):685-700. doi: 10.1016/j.ajhg.2019.03.008. Epub 2019 Mar 28.

22.

Longitudinal validity of the hemophilia caregiver impact measure.

Schwartz CE, Zhang J, Su J.

Qual Life Res. 2019 Jul;28(7):1979-1987. doi: 10.1007/s11136-019-02168-y. Epub 2019 Mar 22.

23.

Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.

Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T.

Mol Genet Genomic Med. 2019 Apr;7(4):e00569. doi: 10.1002/mgg3.569. Epub 2019 Feb 6.

24.

Perceptions of Response Burden Associated with Completion of Patient-Reported Outcome Assessments in Oncology.

Atkinson TM, Schwartz CE, Goldstein L, Garcia I, Storfer DF, Li Y, Zhang J, Bochner BH, Rapkin BD.

Value Health. 2019 Feb;22(2):225-230. doi: 10.1016/j.jval.2018.07.875. Epub 2018 Aug 31.

25.

Polyamine Homeostasis in Snyder-Robinson Syndrome.

Murray-Stewart T, Dunworth M, Foley JR, Schwartz CE, Casero RA Jr.

Med Sci (Basel). 2018 Dec 7;6(4). pii: E112. doi: 10.3390/medsci6040112.

26.

BAFopathies' DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

Aref-Eshghi E, Bend EG, Hood RL, Schenkel LC, Carere DA, Chakrabarti R, Nagamani SCS, Cheung SW, Campeau PM, Prasad C, Siu VM, Brady L, Tarnopolsky MA, Callen DJ, Innes AM, White SM, Meschino WS, Shuen AY, Paré G, Bulman DE, Ainsworth PJ, Lin H, Rodenhiser DI, Hennekam RC, Boycott KM, Schwartz CE, Sadikovic B.

Nat Commun. 2018 Nov 20;9(1):4885. doi: 10.1038/s41467-018-07193-y.

27.

Reconsidering the minimally important difference: evidence of instability over time and across groups.

Schwartz CE, Zhang J, Rapkin BD, Finkelstein JA.

Spine J. 2019 Apr;19(4):726-734. doi: 10.1016/j.spinee.2018.09.010. Epub 2018 Sep 21.

28.

UBE2A-related X-linked intellectual disability.

Stevenson RE, Chudley AE, Srivastava AK, Rodriguez J, Friez MJ, Schwartz CE.

Clin Dysmorphol. 2019 Jan;28(1):1-6. doi: 10.1097/MCD.0000000000000242.

29.

Adherence in Youth With Multiple Sclerosis: A Qualitative Assessment of Habit Formation, Barriers, and Facilitators.

Yeh EA, Chiang N, Darshan B, Nejati N, Grover SA, Schwartz CE, Slater R, Finlayson M; Pediatric MS Adherence Study Group.

Qual Health Res. 2019 Apr;29(5):645-657. doi: 10.1177/1049732318779039. Epub 2018 Jun 17.

PMID:
29911511
30.

Introduction to special section: test construction.

Paap MCS, Böhnke JR, Schwartz CE, Oort FJ.

Qual Life Res. 2018 Jul;27(7):1671-1672. doi: 10.1007/s11136-018-1886-4. No abstract available.

PMID:
29802512
31.

Reserve-building activities attenuate treatment burden in chronic illness: The mediating role of appraisal and social support.

Schwartz CE, Zhang J, Michael W, Eton DT, Rapkin BD.

Health Psychol Open. 2018 May 14;5(1):2055102918773440. doi: 10.1177/2055102918773440. eCollection 2018 Jan-Jun.

32.

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling.

Selvan N, George S, Serajee FJ, Shaw M, Hobson L, Kalscheuer V, Prasad N, Levy SE, Taylor J, Aftimos S, Schwartz CE, Huq AM, Gecz J, Wells L.

J Biol Chem. 2018 Jul 6;293(27):10810-10824. doi: 10.1074/jbc.RA118.002583. Epub 2018 May 16.

33.

X-linked intellectual disability update 2017.

Neri G, Schwartz CE, Lubs HA, Stevenson RE.

Am J Med Genet A. 2018 Jun;176(6):1375-1388. doi: 10.1002/ajmg.a.38710. Epub 2018 Apr 25. Review.

34.

Quality of Life and Adaptation in People With Spinal Cord Injury: Response Shift Effects From 1 to 5 Years Postinjury.

Schwartz CE, Stucky B, Rivers CS, Noonan VK, Finkelstein JA; RHSCIR Network.

Arch Phys Med Rehabil. 2018 Aug;99(8):1599-1608.e1. doi: 10.1016/j.apmr.2018.01.028. Epub 2018 Mar 2.

35.

The impact of extended half-life versus conventional factor product on hemophilia caregiver burden.

Schwartz CE, Powell VE, Su J, Zhang J, Eldar-Lissai A.

Qual Life Res. 2018 May;27(5):1335-1345. doi: 10.1007/s11136-018-1792-9. Epub 2018 Feb 1.

36.

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.

Spellicy CJ, Norris J, Bend R, Bupp C, Mester P, Reynolds T, Dean J, Peng Y, Alexov E, Schwartz CE, Stevenson RS, J Friez M.

Eur J Hum Genet. 2018 Mar;26(3):420-427. doi: 10.1038/s41431-017-0025-y. Epub 2018 Jan 22.

37.

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG.

Nat Commun. 2018 Jan 18;9(1):337. doi: 10.1038/s41467-017-02462-8.

38.

Correction to: Impact of an electronic monitoring device and behavioural feedback on adherence to multiple sclerosis therapies in youth: results of a randomized trial.

Yeh EA, Grover SA, Powell VE, Alper G, Banwell BL, Edwards K, Gorman M, Graves J, Lotze TE, Mah JK, Mednick L, Ness J, Obadia M, Slater R, Waldman A, Waubant E, Schwartz CE; Pediatric MS Adherence Study Group.

Qual Life Res. 2018 Apr;27(4):1117. doi: 10.1007/s11136-017-1773-4.

39.

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.

Piard J, Hu JH, Campeau PM, Rzonca S, Van Esch H, Vincent E, Han M, Rossignol E, Castaneda J, Chelly J, Skinner C, Kalscheuer VM, Wang R, Lemyre E, Kosinska J, Stawinski P, Bal J, Hoffman DA, Schwartz CE, Van Maldergem L, Wang T, Worley PF.

Hum Mol Genet. 2018 Feb 15;27(4):589-600. doi: 10.1093/hmg/ddx426.

40.

Introduction to special section: measuring what matters.

Blum SI, Ahmed S, Flood E, Oort FJ, Schwartz CE.

Qual Life Res. 2018 Jan;27(1):1-3. doi: 10.1007/s11136-017-1743-x. No abstract available.

PMID:
29177566
41.

Development of a practical outcome measure to account for individual differences in quality-of-life appraisal: the Brief Appraisal Inventory.

Rapkin BD, Garcia I, Michael W, Zhang J, Schwartz CE.

Qual Life Res. 2018 Mar;27(3):823-833. doi: 10.1007/s11136-017-1722-2. Epub 2017 Nov 10.

PMID:
29127597
42.

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Li C, Brazill JM, Liu S, Bello C, Zhu Y, Morimoto M, Cascio L, Pauly R, Diaz-Perez Z, Malicdan MCV, Wang H, Boccuto L, Schwartz CE, Gahl WA, Boerkoel CF, Zhai RG.

Nat Commun. 2017 Nov 2;8(1):1257. doi: 10.1038/s41467-017-01289-7. Erratum in: Nat Commun. 2018 Jan 18;9(1):337.

43.

Zebrafish knockout of Down syndrome gene, DYRK1A, shows social impairments relevant to autism.

Kim OH, Cho HJ, Han E, Hong TI, Ariyasiri K, Choi JH, Hwang KS, Jeong YM, Yang SY, Yu K, Park DS, Oh HW, Davis EE, Schwartz CE, Lee JS, Kim HG, Kim CH.

Mol Autism. 2017 Sep 29;8:50. doi: 10.1186/s13229-017-0168-2. eCollection 2017.

44.

Age-related macular degeneration: is polypoidal choroidal vasculopathy recognized and treated?

Chen YN, Devenyi RG, Brent MH, Kertes PJ, Eng KT, Schwartz CE, Kohly RP, Chow DR, Wong DT, Berger AR, Altomare F, Giavedoni LR, Muni RH, Soon A, Yoo P, Lam WC.

Can J Ophthalmol. 2017 Oct;52(5):475-479. doi: 10.1016/j.jcjo.2017.02.014. Epub 2017 May 8.

PMID:
28985807
45.

Publisher's Note: Association of FK506 binding proteins with RyR channels - effect of CLIC2 binding on sub-conductance opening and FKBP binding. J. Cell Sci. doi: 10.1242/jcs.204461.

Richardson SJ, Steele GA, Gallant EM, Lam A, Schwartz CE, Board PG, Casarotto MG, Beard NA, Dulhunty AF.

J Cell Sci. 2017 Oct 5. pii: jcs.211243. doi: 10.1242/jcs.211243. [Epub ahead of print] No abstract available.

PMID:
28982713
46.

Sympathetic neural reactivity to mental stress differs in black and non-Hispanic white adults.

Fonkoue IT, Schwartz CE, Wang M, Carter JR.

J Appl Physiol (1985). 2018 Jan 1;124(1):201-207. doi: 10.1152/japplphysiol.00134.2017. Epub 2017 Sep 28.

47.

Reducing Disparities in Cancer Screening and Prevention through Community-Based Participatory Research Partnerships with Local Libraries: A Comprehensive Dynamic Trial.

Rapkin BD, Weiss E, Lounsbury D, Michel T, Gordon A, Erb-Downward J, Sabino-Laughlin E, Carpenter A, Schwartz CE, Bulone L, Kemeny M.

Am J Community Psychol. 2017 Sep;60(1-2):145-159. doi: 10.1002/ajcp.12161. Epub 2017 Sep 15.

48.

Assessing reserve-building pursuits and person characteristics: psychometric validation of the Reserve-Building Measure.

Schwartz CE, Michael W, Zhang J, Rapkin BD, Sprangers MAG.

Qual Life Res. 2018 Feb;27(2):423-436. doi: 10.1007/s11136-017-1694-2. Epub 2017 Sep 6.

PMID:
28879537
49.

Association of FK506 binding proteins with RyR channels - effect of CLIC2 binding on sub-conductance opening and FKBP binding.

Richardson SJ, Steele GA, Gallant EM, Lam A, Schwartz CE, Board PG, Casarotto MG, Beard NA, Dulhunty AF.

J Cell Sci. 2017 Oct 15;130(20):3588-3600. doi: 10.1242/jcs.204461. Epub 2017 Aug 29. Erratum in: J Cell Sci. 2017 Oct 5;:.

50.

Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid.

Fischer ST, Lili LN, Li S, Tran VT, Stewart KB, Schwartz CE, Jones DP, Sherman SL, Fridovich-Keil JL.

Environ Int. 2017 Oct;107:227-234. doi: 10.1016/j.envint.2017.07.019. Epub 2017 Jul 30.

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