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Items: 1 to 20 of 470

1.

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language.

Snijders Blok L, Rousseau J, Twist J, Ehresmann S, Takaku M, Venselaar H, Rodan LH, Nowak CB, Douglas J, Swoboda KJ, Steeves MA, Sahai I, Stumpel CTRM, Stegmann APA, Wheeler P, Willing M, Fiala E, Kochhar A, Gibson WT, Cohen ASA, Agbahovbe R, Innes AM, Au PYB, Rankin J, Anderson IJ, Skinner SA, Louie RJ, Warren HE, Afenjar A, Keren B, Nava C, Buratti J, Isapof A, Rodriguez D, Lewandowski R, Propst J, van Essen T, Choi M, Lee S, Chae JH, Price S, Schnur RE, Douglas G, Wentzensen IM, Zweier C, Reis A, Bialer MG, Moore C, Koopmans M, Brilstra EH, Monroe GR, van Gassen KLI, van Binsbergen E, Newbury-Ecob R, Bownass L, Bader I, Mayr JA, Wortmann SB, Jakielski KJ, Strand EA, Kloth K, Bierhals T, Roberts JD, Petrovich RM, Machida S, Kurumizaka H, Lelieveld S, Pfundt R, Jansen S, Deriziotis P, Faive L, Thevenon J, Assoum M, Shriberg L, Kleefstra T, Brunner HG, Wade PA, Fisher SE, Campeau PM.

Nat Commun. 2018 Nov 5;9(1):4619. doi: 10.1038/s41467-018-06014-6.

2.

A large familial pathogenic Plakophilin-2 gene (PKP2) deletion manifesting with sudden cardiac death and lone atrial fibrillation: Evidence for alternating atrial and ventricular phenotypes.

Alhassani S, Deif B, Conacher S, Cunningham KS, Roberts JD.

HeartRhythm Case Rep. 2018 Jul 25;4(10):486-489. doi: 10.1016/j.hrcr.2018.07.009. eCollection 2018 Oct. No abstract available.

3.

TJP1 Mutations in Arrhythmogenic Cardiomyopathy.

Roberts JD.

Circ Genom Precis Med. 2018 Oct;11(10):e002337. doi: 10.1161/CIRCGEN.118.002337. No abstract available.

PMID:
30354307
4.

Transforming growth factor-beta down-regulates sGC subunit expression in pulmonary artery smooth muscle cells via MEK and ERK signaling.

Du L, Roberts JD Jr.

Am J Physiol Lung Cell Mol Physiol. 2018 Sep 27. doi: 10.1152/ajplung.00319.2018. [Epub ahead of print]

PMID:
30260287
5.

Early Repolarization in Long QT Syndrome: Modifier of Arrhythmic Risk or Benign Incidental Finding?

Gula LJ, Roberts JD.

JACC Clin Electrophysiol. 2018 Sep;4(9):1245-1247. doi: 10.1016/j.jacep.2018.07.003. No abstract available.

PMID:
30236401
6.

Linking the heart and the brain: Neurodevelopmental disorders in patients with catecholaminergic polymorphic ventricular tachycardia.

Lieve KVV, Verhagen JMA, Wei J, Bos JM, van der Werf C, Rosés I Noguer F, Mancini GMS, Guo W, Wang R, van den Heuvel F, Frohn-Mulder IME, Shimizu W, Nogami A, Horigome H, Roberts JD, Leenhardt A, Crijns HJG, Blank AC, Aiba T, Wiesfeld ACP, Blom NA, Sumitomo N, Till J, Ackerman MJ, Chen SRW, van de Laar IMBH, Wilde AAM.

Heart Rhythm. 2018 Aug 28. pii: S1547-5271(18)30826-9. doi: 10.1016/j.hrthm.2018.08.025. [Epub ahead of print]

PMID:
30170228
7.

A Phase II Trial of Bortezomib and Vorinostat in Mantle Cell Lymphoma and Diffuse Large B-cell Lymphoma.

Yazbeck V, Shafer D, Perkins EB, Coppola D, Sokol L, Richards KL, Shea T, Ruan J, Parekh S, Strair R, Flowers C, Morgan D, Kmieciak M, Bose P, Kimball A, Badros AZ, Baz R, Lin HY, Zhao X, Reich RR, Tombes MB, Shrader E, Sankala H, Roberts JD, Sullivan D, Grant S, Holkova B.

Clin Lymphoma Myeloma Leuk. 2018 Sep;18(9):569-575.e1. doi: 10.1016/j.clml.2018.05.023. Epub 2018 Jun 6.

PMID:
30122201
8.

Prospective, randomized clinical trial comparing use of intraoperative transesophageal echocardiography to standard care during radical cystectomy.

Dhawan R, Shahul S, Roberts JD, Smith ND, Steinberg GD, Chaney MA.

Ann Card Anaesth. 2018 Jul-Sep;21(3):255-261. doi: 10.4103/aca.ACA_183_17.

9.

Marijuana Use in Adults Living with Sickle Cell Disease.

Roberts JD, Spodick J, Cole J, Bozzo J, Curtis S, Forray A.

Cannabis Cannabinoid Res. 2018 Jul 1;3(1):162-165. doi: 10.1089/can.2018.0001. eCollection 2018.

10.

Cardiac resynchronization is pro-arrhythmic in the absence of reverse ventricular remodelling: a systematic review and meta-analysis.

Deif B, Ballantyne B, Almehmadi F, Mikhail M, McIntyre WF, Manlucu J, Yee R, Sapp JL, Roberts JD, Healey JS, Leong-Sit P, Tang AS.

Cardiovasc Res. 2018 Sep 1;114(11):1435-1444. doi: 10.1093/cvr/cvy182.

PMID:
30010807
11.

Dosage compensation and DNA methylation landscape of the X chromosome in mouse liver.

Duncan CG, Grimm SA, Morgan DL, Bushel PR, Bennett BD; NISC Comparative Sequencing Program, Roberts JD, Tyson FL, Merrick BA, Wade PA.

Sci Rep. 2018 Jul 4;8(1):10138. doi: 10.1038/s41598-018-28356-3.

12.

Modeling underwater noise propagation from marine hydrokinetic power devices through a time-domain, velocity-pressure solution.

Hafla E, Johnson E, Johnson CN, Preston L, Aldridge D, Roberts JD.

J Acoust Soc Am. 2018 Jun;143(6):3242. doi: 10.1121/1.5039839.

PMID:
29960489
13.

Predicting Penetrance of SCN5A Rare Variants: Peering Beyond the Black and White and Into the Shades of Grey.

Roberts JD.

Circ Genom Precis Med. 2018 May;11(5):e002166. doi: 10.1161/CIRCGEN.118.002166. No abstract available.

PMID:
29728398
14.

Personalizing therapy for atrial fibrillation: the role of stem cell and in silico disease models.

Barichello S, Roberts JD, Backx P, Boyle PM, Laksman Z.

Cardiovasc Res. 2018 Jun 1;114(7):931-943. doi: 10.1093/cvr/cvy090.

PMID:
29648634
15.

Do Not Forget About Public Transportation: Analysis of the Association of Active Transportation to School Among Washington, DC Area Children With Parental Perceived Built Environment Measures.

Roberts JD, Rodkey L, Ray R, Saelens BE.

J Phys Act Health. 2018 Jul 1;15(7):474-482. doi: 10.1123/jpah.2017-0266. Epub 2018 Mar 23.

PMID:
29570001
16.

Noncoding Genetic Variation and Gene Expression: Deciphering the Molecular Drivers of Genome-Wide Association Study Signals in Atrial Fibrillation.

Roberts JD.

Circ Genom Precis Med. 2018 Mar;11(3):e002109. doi: 10.1161/CIRCGEN.118.002109. No abstract available.

PMID:
29545483
17.

GATA3 zinc finger 2 mutations reprogram the breast cancer transcriptional network.

Takaku M, Grimm SA, Roberts JD, Chrysovergis K, Bennett BD, Myers P, Perera L, Tucker CJ, Perou CM, Wade PA.

Nat Commun. 2018 Mar 13;9(1):1059. doi: 10.1038/s41467-018-03478-4.

18.

An obesity-associated gut microbiome reprograms the intestinal epigenome and leads to altered colonic gene expression.

Qin Y, Roberts JD, Grimm SA, Lih FB, Deterding LJ, Li R, Chrysovergis K, Wade PA.

Genome Biol. 2018 Jan 23;19(1):7. doi: 10.1186/s13059-018-1389-1.

19.

Conversion from Monitored Anesthesia Care to General Anesthesia for Transcatheter Aortic Valve Replacement.

Kimmel J, Potosky R, Williams MR, Glading M, Neuburger PJ, Roberts JD, Feider A.

J Cardiothorac Vasc Anesth. 2018 Apr;32(2):1032-1040. doi: 10.1053/j.jvca.2017.05.015. Epub 2017 May 9. No abstract available.

PMID:
29336966
20.

Base-Resolution Analysis of DNA Methylation Patterns Downstream of Dnmt3a in Mouse Naïve B Cells.

Duncan CG, Kondilis-Mangum HD, Grimm SA, Bushel PR, Chrysovergis K, Roberts JD, Tyson FL, Merrick BA, Wade PA.

G3 (Bethesda). 2018 Mar 2;8(3):805-813. doi: 10.1534/g3.117.300446.

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