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Items: 1 to 20 of 128

1.

Combination of whole exome sequencing and animal modeling identifies TMPRSS9 as a candidate gene for autism spectrum disorder.

Chen CA, Pal R, Yin J, Tao H, Amawi A, Sabo A, Bainbridge MN, Gibbs RA, Zoghbi HY, Schaaf CP.

Hum Mol Genet. 2020 Feb 1;29(3):459-470. doi: 10.1093/hmg/ddz305.

PMID:
31943016
2.

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.

Gu S, Chen CA, Rosenfeld JA, Cope H, Launay N, Flanigan KM, Waldrop MA, Schrader R, Juusola J, Goker-Alpan O, Milunsky A, Schlüter A, Troncoso M, Pujol A, Tan QK, Schaaf CP, Meng L.

Hum Mutat. 2020 Mar;41(3):632-640. doi: 10.1002/humu.23950. Epub 2019 Nov 25.

PMID:
31696996
3.

Nr2f1 heterozygous knockout mice recapitulate neurological phenotypes of Bosch-Boonstra-Schaaf optic atrophy syndrome and show impaired hippocampal synaptic plasticity.

Chen CA, Wang W, Pedersen SE, Raman A, Seymour ML, Ruiz FR, Xia A, van der Heijden ME, Wang L, Yin J, Lopez J, Rech ME, Lewis RA, Wu SM, Liu Z, Pereira FA, Pautler RG, Zoghbi HY, Schaaf CP.

Hum Mol Genet. 2019 Oct 10. pii: ddz233. doi: 10.1093/hmg/ddz233. [Epub ahead of print]

PMID:
31600777
4.

Zero Fluoroscopy During Ablation of Right-Sided Supraventricular Tachycardia Substrates in a Pediatric Population - Initial Experience in Taiwan.

Tseng WC, Wu MH, Lu CW, Wu KL, Wang JK, Lin MT, Chen CA, Chiu SN.

Acta Cardiol Sin. 2019 Sep;35(5):476-483. doi: 10.6515/ACS.201909_35(5).20190211A.

5.

Tunable Moiré Superlattice of Artificially Twisted Monolayers.

Chen PY, Zhang XQ, Lai YY, Lin EC, Chen CA, Guan SY, Chen JJ, Yang ZH, Tseng YW, Gwo S, Chang CS, Chen LJ, Lee YH.

Adv Mater. 2019 Sep;31(37):e1901077. doi: 10.1002/adma.201901077. Epub 2019 Jul 24.

PMID:
31339199
6.

Improved Left Ventricular Strain and Dyssynchrony After Pulmonary Artery Banding in an Infant with End-Stage Dilated Cardiomyopathy: Insights from Three-Dimensional Speckle Tracking.

Liu YH, Chen YS, Lin MT, Chen CA.

Pediatr Cardiol. 2019 Aug;40(6):1317-1319. doi: 10.1007/s00246-019-02138-8. Epub 2019 Jun 25.

PMID:
31240369
7.
8.

Outcomes of Kawasaki Disease Children With Spontaneous Defervescence Within 10 Days.

Hu YC, Liu HM, Lin MT, Chen CA, Chiu SN, Lu CW, Chang LY, Wang JK, Wu MH.

Front Pediatr. 2019 Apr 24;7:158. doi: 10.3389/fped.2019.00158. eCollection 2019.

9.

Extracellular Vesicles Released by Human Induced-Pluripotent Stem Cell-Derived Cardiomyocytes Promote Angiogenesis.

Dougherty JA, Kumar N, Noor M, Angelos MG, Khan M, Chen CA, Khan M.

Front Physiol. 2018 Dec 14;9:1794. doi: 10.3389/fphys.2018.01794. eCollection 2018.

10.
11.

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.

Tokita MJ, Chen CA, Chitayat D, Macnamara E, Rosenfeld JA, Hanchard N, Lewis AM, Brown CW, Marom R, Shao Y, Novacic D, Wolfe L, Wahl C, Tifft CJ, Toro C, Bernstein JA, Hale CL, Silver J, Hudgins L, Ananth A, Hanson-Kahn A, Shuster S; Undiagnosed Diseases Network, Magoulas PL, Patel VN, Zhu W, Chen SM, Jiang Y, Liu P, Eng CM, Batkovskyte D, di Ronza A, Sardiello M, Lee BH, Schaaf CP, Yang Y, Wang X.

Am J Hum Genet. 2018 Jul 5;103(1):154-162. doi: 10.1016/j.ajhg.2018.06.005. Epub 2018 Jun 28.

12.

Study on ECG in the Adolescent.

Lue HC, Wu MH, Wang JK, Lin MT, Lu CW, Chiu SN, Chen CA, Wu ET, Wang CC, Fu CM, Tseng WC, Chang WH, Lee MC.

Pediatr Cardiol. 2018 Jun;39(5):911-923. doi: 10.1007/s00246-018-1841-8. Epub 2018 Mar 19.

PMID:
29556784
13.

Hormonal, metabolic and skeletal phenotype of Schaaf-Yang syndrome: a comparison to Prader-Willi syndrome.

McCarthy JM, McCann-Crosby BM, Rech ME, Yin J, Chen CA, Ali MA, Nguyen HN, Miller JL, Schaaf CP.

J Med Genet. 2018 May;55(5):307-315. doi: 10.1136/jmedgenet-2017-105024. Epub 2018 Mar 1.

PMID:
29496979
14.

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL Jr, Zoghbi HY.

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.

15.

Late restored cardiac function after successful resynchronization by right posterior accessory pathway ablation in Wolff-Parkinson-White syndrome associated dilated cardiomyopathy.

Wu KL, Chiu SN, Chen CA, Lu CW, Tseng WC, Wang JK, Wu MH.

J Electrocardiol. 2018 May - Jun;51(3):452-456. doi: 10.1016/j.jelectrocard.2018.01.010. Epub 2018 Feb 8. No abstract available.

PMID:
29452709
16.

Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.

Martín-Hernández E, Rodríguez-García ME, Chen CA, Cotrina-Vinagre FJ, Carnicero-Rodríguez P, Bellusci M, Schaaf CP, Martínez-Azorín F.

J Hum Genet. 2018 Apr;63(4):525-528. doi: 10.1038/s10038-017-0398-3. Epub 2018 Feb 6.

PMID:
29410510
17.

Efficacy of a Novel Palivizumab Prophylaxis Protocol for Respiratory Syncytial Virus Infection in Congenital Heart Disease: A Multicenter Study.

Chiu SN, Wang JN, Fu YC, Chung HT, Chang LY, Wu MH, Hua YC, Lin MT, Lu CW, Chen CA, Wu JM, Wang JK.

J Pediatr. 2018 Apr;195:108-114.e1. doi: 10.1016/j.jpeds.2017.11.044. Epub 2018 Feb 1.

PMID:
29395174
18.

Synthesis of In-Plane Artificial Lattices of Monolayer Multijunctions.

Chiu KC, Huang KH, Chen CA, Lai YY, Zhang XQ, Lin EC, Chuang MH, Wu JM, Lee YH.

Adv Mater. 2018 Feb;30(7). doi: 10.1002/adma.201704796. Epub 2017 Dec 22.

PMID:
29271505
19.

Potential Role of Exosomes in Mending a Broken Heart: Nanoshuttles Propelling Future Clinical Therapeutics Forward.

Dougherty JA, Mergaye M, Kumar N, Chen CA, Angelos MG, Khan M.

Stem Cells Int. 2017;2017:5785436. doi: 10.1155/2017/5785436. Epub 2017 Oct 15. Review.

20.

Transcatheter Closure of Perimembranous Ventricular Septal Defects With Amplatzer Duct Occluders.

Lin MT, Chen CA, Hsu JY, Lin HC, Chiu SN, Lin SM, Chang YM, Lu CW, Wu MH, Wang JK.

JACC Cardiovasc Interv. 2017 Nov 13;10(21):2227-2228. doi: 10.1016/j.jcin.2017.08.021. No abstract available.

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