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Items: 1 to 20 of 474

1.

Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study.

Wynn J, Martinez J, Bulafka J, Duong J, Zhang Y, Chiuzan C, Preti J, Cremona ML, Jobanputra V, Fyer AJ, Klitzman RL, Appelbaum PS, Chung WK.

J Genet Couns. 2017 Nov 22. doi: 10.1007/s10897-017-0172-x. [Epub ahead of print]

PMID:
29168042
2.

The impact of hereditary cancer gene panels on clinical care and lessons learned.

Okur V, Chung WK.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002154. doi: 10.1101/mcs.a002154. Print 2017 Nov.

3.

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

Tanaka AJ, Cho MT, Willaert R, Retterer K, Zarate YA, Bosanko K, Stefans V, Oishi K, Williamson A, Wilson GN, Basinger A, Barbaro-Dieber T, Ortega L, Sorrentino S, Gabriel MK, Anderson IJ, Sacoto MJG, Schnur RE, Chung WK.

Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a002097. doi: 10.1101/mcs.a002097. Print 2017 Nov.

4.

Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.

Wolf P, Alcalay RN, Liong C, Cullen E, Pauciulo MW, Nichols WC, Gan-Or Z, Chung WK, Faulkner T, Bentis C, Pomponio RJ, Ma X, Kate Zhang X, Keutzer JM, Oliva P.

Mol Genet Metab. 2017 Oct 23. pii: S1096-7192(17)30541-3. doi: 10.1016/j.ymgme.2017.10.011. [Epub ahead of print]

5.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL.

Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008.

PMID:
29100083
6.

PVDOMICS: A Multi-Center Study to Improve Understanding of Pulmonary Vascular Disease Through Phenomics.

Hemnes AR, Beck GJ, Newman JH, Abidov A, Aldred MA, Barnard J, Berman Rosenzweig E, Borlaug BA, Chung WK, Comhair SAA, Erzurum SC, Frantz RP, Gray MP, Grunig G, Hassoun PM, Hill NS, Horn EM, Hu B, Lempel JK, Maron BA, Mathai SC, Olman MA, Rischard FP, Systrom DM, Tang WHW, Waxman AB, Xiao L, Yuan JX, Leopold JA; PVDOMICS Study Group.

Circ Res. 2017 Oct 27;121(10):1136-1139. doi: 10.1161/CIRCRESAHA.117.311737. No abstract available.

PMID:
29074534
7.

Fully chip-embedded automation of a multi-step lab-on-a-chip process using a modularized timer circuit.

Kang J, Lee D, Heo YJ, Chung WK.

Lab Chip. 2017 Nov 7;17(22):3891-3897. doi: 10.1039/c7lc00704c.

PMID:
29051929
8.

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.

Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M.

Nat Genet. 2017 Nov;49(11):1593-1601. doi: 10.1038/ng.3970. Epub 2017 Oct 9.

PMID:
28991257
9.

Frequency of GBA variants in autopsy-proven multiple system atrophy.

Sklerov M, Kang UJ, Liong C, Clark L, Marder K, Pauciulo M, Nichols WC, Chung WK, Honig LS, Cortes E, Vonsattel JP, Alcalay RN.

Mov Disord Clin Pract. 2017 Jul-Aug;4(4):574-581. doi: 10.1002/mdc3.12481. Epub 2017 Apr 3.

PMID:
28966932
10.

The role of interim FDG PET-CT after induction chemotherapy as a predictor of concurrent chemoradiotherapy efficacy and prognosis for head and neck cancer.

Kim KR, Shim HJ, Hwang JE, Cho SH, Chung IJ, Park KS, Kang SR, Kwon SY, Chung WK, Bae WK.

Eur J Nucl Med Mol Imaging. 2017 Sep 22. doi: 10.1007/s00259-017-3836-8. [Epub ahead of print]

PMID:
28940101
11.

Role of radiation therapy in primary central nervous system lymphoma : KROG 14-20 Collaborative Study of Brain and Lymphoma Committee.

Koh HK, Kim IH, Kim TM, Lim DH, Oh D, Cho JH, Kim WC, Kim JH, Chung WK, Jeong BK, Kang KM, Hong S, Suh CO, Kim IA.

J Neurooncol. 2017 Dec;135(3):629-638. doi: 10.1007/s11060-017-2616-4. Epub 2017 Sep 22.

PMID:
28939931
12.

Real-time Image Processing for Microscopy-based Label-free Imaging Flow Cytometry in a Microfluidic Chip.

Heo YJ, Lee D, Kang J, Lee K, Chung WK.

Sci Rep. 2017 Sep 14;7(1):11651. doi: 10.1038/s41598-017-11534-0.

13.

Pediatric Cardiomyopathies.

Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD, Chung WK, Jefferies JL, Rossano JW, Castleberry CD, Addonizio LJ, Lal AK, Lamour JM, Miller EM, Thrush PT, Czachor JD, Razoky H, Hill A, Lipshultz SE.

Circ Res. 2017 Sep 15;121(7):855-873. doi: 10.1161/CIRCRESAHA.116.309386. Review.

PMID:
28912187
14.

The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery.

Bohnen MS, Roman-Campos D, Terrenoire C, Jnani J, Sampson KJ, Chung WK, Kass RS.

J Am Heart Assoc. 2017 Sep 9;6(9). pii: e006465. doi: 10.1161/JAHA.117.006465.

15.

Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium.

Wolf SM, Amendola LM, Berg JS, Chung WK, Clayton EW, Green RC, Harris-Wai J, Henderson GE, Jarvik GP, Koenig BA, Lehmann LS, McGuire AL, O'Rourke P, Somkin C, Wilfond BS, Burke W.

Genet Med. 2017 Aug 31. doi: 10.1038/gim.2017.137. [Epub ahead of print]

PMID:
28858330
16.

Dosimetric evaluation of MobiusFX in the RapidArc delivery quality assurance comparing with 3DVH.

Song JY, Jeong JU, Yoon MS, Ahn SJ, Chung WK, Nam TK.

PLoS One. 2017 Aug 23;12(8):e0183165. doi: 10.1371/journal.pone.0183165. eCollection 2017.

17.

CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.

Chen CA, Bosch DGM, Cho ScM MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FPM, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BBA, Schaaf C.

Genet Med. 2017 Aug;19(8):962. doi: 10.1038/gim.2017.12.

PMID:
28777376
18.

Congenital diaphragmatic hernias: from genes to mechanisms to therapies.

Kardon G, Ackerman KG, McCulley DJ, Shen Y, Wynn J, Shang L, Bogenschutz E, Sun X, Chung WK.

Dis Model Mech. 2017 Aug 1;10(8):955-970. doi: 10.1242/dmm.028365. Review.

19.

Evaluation and Minimization of the Pseudohepatic Anisotropy Artifact in Liver Intravoxel Incoherent Motion.

Wong OL, Goh Lo G, Yuan J, Chung WK, Ho WHB, Noseworthy MD.

J Comput Assist Tomogr. 2017 Sep/Oct;41(5):679-687. doi: 10.1097/RCT.0000000000000604.

PMID:
28708735
20.

Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers.

Kuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, Jervis S, van Leeuwen FE, Milne RL, Andrieu N, Goldgar DE, Terry MB, Rookus MA, Easton DF, Antoniou AC, BRCA1 and BRCA2 Cohort Consortium, McGuffog L, Evans DG, Barrowdale D, Frost D, Adlard J, Ong KR, Izatt L, Tischkowitz M, Eeles R, Davidson R, Hodgson S, Ellis S, Nogues C, Lasset C, Stoppa-Lyonnet D, Fricker JP, Faivre L, Berthet P, Hooning MJ, van der Kolk LE, Kets CM, Adank MA, John EM, Chung WK, Andrulis IL, Southey M, Daly MB, Buys SS, Osorio A, Engel C, Kast K, Schmutzler RK, Caldes T, Jakubowska A, Simard J, Friedlander ML, McLachlan SA, Machackova E, Foretova L, Tan YY, Singer CF, Olah E, Gerdes AM, Arver B, Olsson H.

JAMA. 2017 Jun 20;317(23):2402-2416. doi: 10.1001/jama.2017.7112.

PMID:
28632866

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