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Author Chun An Chen

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Increased prevalence of inattention-related symptoms in a large cohort of patients with congenital heart disease.

Chia-Ching Wang, Wen-Chin Weng, Ling-Yin Chang, Hsing-Yi Chang, Mei-Hwan Wu, Jou-Kou Wang, Chun-Wei Lu, Ming-Tai Lin, Chun-An Chen, Shuenn-Nan Chiu,

The objective of this study is to assess the prevalence and risk factors for attention-deficit hyperactivity disorder (ADHD) in a large cohort of patients with congenital heart disease (CHD). Patients (n = 695) with CHD who were aged 6-15 years and visited the outpatient clinics in our hospital from June 2015 to May ... Read more >>

Eur Child Adolesc Psychiatry (European child & adolescent psychiatry)
[2020, :]

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Safety and efficacy of transcatheter closure of outlet-type ventricular septal defects in children and adults with Amplatzer Duct Occluder II.

Hsin-Chia Lin, Ming-Tai Lin, Chun-An Chen, Jui-Yu Hsu, Su-Man Lin, Mei-Hwan Wu, Jou-Kou Wang,

BACKGROUND/PURPOSE:Outlet-type VSD is frequently associated with aortic valve prolapse that surgery is frequently required. The literature regarding outcomes of transcatheter closure of outlet-type VSDs is scant. This study was conducted to know the safety and efficacy of transcatheter closure of outlet-type ventricular septal defects (VSDs) with Amplatzer Duct Occluder II ... Read more >>

J. Formos. Med. Assoc. (Journal of the Formosan Medical Association = Taiwan yi zhi)
[2020, :]

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A framework for an evidence-based gene list relevant to autism spectrum disorder.

Christian P Schaaf, Catalina Betancur, Ryan K C Yuen, Jeremy R Parr, David H Skuse, Louise Gallagher, Raphael A Bernier, Janet A Buchanan, Joseph D Buxbaum, Chun-An Chen, Kira A Dies, Mayada Elsabbagh, Helen V Firth, Thomas Frazier, Ny Hoang, Jennifer Howe, Christian R Marshall, Jacques L Michaud, Olivia Rennie, Peter Szatmari, Wendy K Chung, Patrick F Bolton, Edwin H Cook, Stephen W Scherer, Jacob A S Vorstman,

Autism spectrum disorder (ASD) is often grouped with other brain-related phenotypes into a broader category of neurodevelopmental disorders (NDDs). In clinical practice, providers need to decide which genes to test in individuals with ASD phenotypes, which requires an understanding of the level of evidence for individual NDD genes that supports ... Read more >>

Nat. Rev. Genet. (Nature reviews. Genetics)
[2020, 21(6):367-376]

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Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.

Megan E Rech, John M McCarthy, Chun-An Chen, Jane C Edmond, Veeral S Shah, Daniëlle G M Bosch, Gerard T Berry, Linford Williams, Suneeta Madan-Khetarpal, Dmitriy Niyazov, Charles Shaw-Smith, Erin M Kovar, Philip J Lupo, Christian P Schaaf,

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical information for 9 previously reported individuals, and review an additional 27 published cases to ... Read more >>

Am. J. Med. Genet. A (American journal of medical genetics. Part A)
[2020, 182(6):1426-1437]

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Device deformation and left pulmonary artery obstruction after transcatheter patent ductus arteriosus closure in preterm infants.

Yu-Hsuan Chien, Hsuan-Hui Wang, Ming-Tai Lin, Hsin-Chia Lin, Chun-Wei Lu, Shuenn-Nan Chiu, Mei-Hwan Wu, Jou-Kou Wang, Chun-An Chen,

BACKGROUND:Transcatheter closure of patent ductus arteriosus (PDA) is an effective alternative to surgical ligation in preterm infants. However, data on device deformation and risk of left pulmonary artery (LPA) obstruction remain scant. This study describes the outcomes and complications of transcatheter closure of PDA in preterm infants weighing <2500 g. METHODS:Amplatzer ... Read more >>

Int. J. Cardiol. (International journal of cardiology)
[2020, :]

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

Chun-An Chen, Wei Wang, Steen E Pedersen, Ayush Raman, Michelle L Seymour, Fernanda R Ruiz, Anping Xia, Meike E van der Heijden, Li Wang, Jiani Yin, Joanna Lopez, Megan E Rech, Richard A Lewis, Samuel M Wu, Zhandong Liu, Fred A Pereira, Robia G Pautler, Huda Y Zoghbi, Christian P Schaaf,

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been identified as an autosomal-dominant disorder characterized by a complex neurological phenotype, with high prevalence of intellectual disability and optic nerve atrophy/hypoplasia. The syndrome is caused by loss-of-function mutations in NR2F1, which encodes a highly conserved nuclear receptor that serves as a transcriptional regulator. ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, 29(5):705-715]

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

Chun-An Chen, Rituraj Pal, Jiani Yin, Huifang Tao, Abdallah Amawi, Aniko Sabo, Matthew N Bainbridge, Richard A Gibbs, Huda Y Zoghbi, Christian P Schaaf,

Autism spectrum disorders are associated with some degree of developmental regression in up to 30% of all cases. Rarely, however, is the regression so extreme that a developmentally advanced young child would lose almost all ability to communicate and interact with her surroundings. We applied trio whole exome sequencing to ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, 29(3):459-470]

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

Shen Gu, Chun-An Chen, Jill A Rosenfeld, Heidi Cope, Nathalie Launay, Kevin M Flanigan, Megan A Waldrop, Rachel Schrader, Jane Juusola, Ozlem Goker-Alpan, Aubrey Milunsky, Agatha Schlüter, Mónica Troncoso, Aurora Pujol, Queenie K-G Tan, Christian P Schaaf, Linyan Meng,

Hereditary spastic paraplegia (HSP) is a group of disorders with predominant symptoms of lower-extremity weakness and spasticity. Despite the delineation of numerous genetic causes of HSP, a significant portion of individuals with HSP remain molecularly undiagnosed. Through exome sequencing, we identified five unrelated families with childhood-onset nonsyndromic HSP, all presenting ... Read more >>

Hum. Mutat. (Human mutation)
[2020, 41(3):632-640]

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

Wei-Chieh Tseng, Mei-Hwan Wu, Chun-Wei Lu, Kun-Lang Wu, Jou-Kou Wang, Ming-Tai Lin, Chun-An Chen, Shuenn-Nan Chiu,

Background:Zero fluoroscopy during ablation of arrhythmias has been introduced to reduce radiation exposure. However, the safety, feasibility and efficacy of the technique in pediatric populations have yet to be delineated. Objectives:To investigate the safety, feasibility and effectiveness of zero fluoroscopic-guided transcatheter ablation of right-sided supraventricular tachycardia substrates in a pediatric ... Read more >>

Acta Cardiol Sin (Acta Cardiologica Sinica)
[2019, 35(5):476-483]

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Tunable Moiré Superlattice of Artificially Twisted Monolayers.

Po-Yen Chen, Xin-Quan Zhang, Ying-Yu Lai, Erh-Chen Lin, Chun-An Chen, Syu-You Guan, Jyun-Jyun Chen, Zhe-Hong Yang, Yu-Wen Tseng, Shangjr Gwo, Chia-Seng Chang, Lih-Juann Chen, Yi-Hsien Lee,

Twisting between two stacked monolayers modulates periodic potentials and forms the Moiré electronic superlattices, which offers an additional degree of freedom to alter material property. Considerable unique observations, including unconventional superconductivity, coupled spin-valley states, and quantized interlayer excitons are correlated to the electronic superlattices but further study requires reliable routes ... Read more >>

Adv. Mater. Weinheim (Advanced materials (Deerfield Beach, Fla.))
[2019, 31(37):e1901077]

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

Yu-Hsuan Liu, Yih-Sharng Chen, Ming-Tai Lin, Chun-An Chen,

Pulmonary artery banding may benefit infants with dilated cardiomyopathy. We present the case of an infant with end-stage dilated cardiomyopathy and intractable heart failure who received pulmonary artery banding. Serial follow-up through two-dimensional and three-dimensional echocardiography revealed gradual improvement in the left ventricular ejection fraction and favorable remodeling. The result ... Read more >>

Pediatr Cardiol (Pediatric cardiology)
[2019, 40(6):1317-1319]

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Preparation and Identification of Novel Antihypertensive Peptides from the In Vitro Gastrointestinal Digestion of Marine Cobia Skin Hydrolysates.

Yu-Hsin Lin, Chun-An Chen, Jenn-Shou Tsai, Guan-Wen Chen,

This research focuses on cobia skin hydrolysates and their antihypertensive effects via the inhibitory activities of angiotensin I-converting enzyme (ACE). Marine fish Cobia (Rachycentron canadum) skin was hydrolysed for 5 h using Protamex and Protease N to obtain the cobia skin protein hydrolysates PX-5 and PN-5, respectively. The soluble protein ... Read more >>

Nutrients (Nutrients)
[2019, 11(6):]

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

Ya-Chiao Hu, Hsin-Min Liu, Ming-Tai Lin, Chun-An Chen, Shuenn-Nan Chiu, Chun-Wei Lu, Luan-Yin Chang, Jou-Kou Wang, Mei-Hwan Wu,

Background: Kawasaki disease (KD) is one of the most common vasculitis in childhood. Intravenous γ-immunoglobulin (IVIG) is recommended to be administrated within 10 days after fever onset. However, some patients didn't have IVIG therapies because of atypical disease presentations or spontaneous defervescence. We aimed to evaluate the coronary outcomes of ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2019, 7:158]

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Development of an oligonucleotide microarray for simultaneous detection of two canine MDR1 genotypes and association between genotypes and chemotherapy side effects.

Jih-Jong Lee, Han-You Lin, Chun-An Chen, Chen-Si Lin, Lih-Chiann Wang,

Canine MDR1 gene mutations produce translated P-glycoprotein, an active drug efflux transporter, resulting in dysfunction or over-expression. The 4-base deletion at exon 4 of MDR1 at nucleotide position 230 (nt230[del4]) in exon 4 makes P-glycoprotein lose function, leading to drug accumulation and toxicity. The G allele of the c.-6-180T>G variation ... Read more >>

J. Vet. Sci. (Journal of veterinary science)
[2019, 20(1):27-33]

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

Mari J Tokita, Chun-An Chen, David Chitayat, Ellen Macnamara, Jill A Rosenfeld, Neil Hanchard, Andrea M Lewis, Chester W Brown, Ronit Marom, Yunru Shao, Danica Novacic, Lynne Wolfe, Colleen Wahl, Cynthia J Tifft, Camilo Toro, Jonathan A Bernstein, Caitlin L Hale, Julia Silver, Louanne Hudgins, Amitha Ananth, Andrea Hanson-Kahn, Shirley Shuster, , Pilar L Magoulas, Vipulkumar N Patel, Wenmiao Zhu, Stella M Chen, Yanjun Jiang, Pengfei Liu, Christine M Eng, Dominyka Batkovskyte, Alberto di Ronza, Marco Sardiello, Brendan H Lee, Christian P Schaaf, Yaping Yang, Xia Wang,

TRAF7 is a multi-functional protein involved in diverse signaling pathways and cellular processes. The phenotypic consequence of germline TRAF7 variants remains unclear. Here we report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. The seven individuals share substantial phenotypic overlap, with developmental delay, congenital heart ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2018, 103(1):154-162]

Cited: 1 time

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Study on ECG in the Adolescent.

Hung-Chi Lue, Mei-Hwan Wu, Jou-Kou Wang, Min-Tai Lin, Chun-Wei Lu, Shuenn-Nan Chiu, Chun-An Chen, En-Ting Wu, Ching-Chia Wang, Chun-Min Fu, Wei-Chien Tseng, Wei-Hsuan Chang, Meng-Chang Lee,

Normal ECG values in newborns, infants, and children have been collected and published. ECG in the adolescent, however, remains, to be collected and studied. The present study was designed and carried out to establish the normal ECG standards in male and female adolescents. A total of 898 school children and ... Read more >>

Pediatr Cardiol (Pediatric cardiology)
[2018, 39(5):911-923]

Cited: 1 time

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

John M McCarthy, Bonnie M McCann-Crosby, Megan E Rech, Jiani Yin, Chun-An Chen, May A Ali, HaiThuy N Nguyen, Jennifer L Miller, Christian P Schaaf,

BACKGROUND:Nonsense and frameshift mutations in the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13, have been reported to cause Schaaf-Yang syndrome (SYS), a genetic disorder that manifests as developmental delay/intellectual disability, hypotonia, feeding difficulties and autism spectrum disorder. Prader-Willi syndrome (PWS) is a genetic disorder ... Read more >>

J. Med. Genet. (Journal of medical genetics)
[2018, 55(5):307-315]

Cited: 9 times

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

Elena Martín-Hernández, María Elena Rodríguez-García, Chun-An Chen, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Marcello Bellusci, Christian P Schaaf, Francisco Martínez-Azorín,

We report the clinical and biochemical findings from a patient who presented with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal-dominant disorder characterized by optic atrophy, developmental delay and intellectual disability. In addition, the patient also displays hypotonia, stroke-like episodes, and complex IV deficiency of the mitochondrial respiratory chain. Whole-exome sequencing ... Read more >>

J. Hum. Genet. (Journal of human genetics)
[2018, 63(4):525-528]

Cited: 1 time

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

Vincenzo A Gennarino, Elizabeth E Palmer, Laura M McDonell, Li Wang, Carolyn J Adamski, Amanda Koire, Lauren See, Chun-An Chen, Christian P Schaaf, Jill A Rosenfeld, Jessica A Panzer, Ute Moog, Shuang Hao, Ann Bye, Edwin P Kirk, Pawel Stankiewicz, Amy M Breman, Arran McBride, Tejaswi Kandula, Holly A Dubbs, Rebecca Macintosh, Michael Cardamone, Ying Zhu, Kevin Ying, Kerith-Rae Dias, Megan T Cho, Lindsay B Henderson, Berivan Baskin, Paula Morris, Jiang Tao, Mark J Cowley, Marcel E Dinger, Tony Roscioli, Oana Caluseriu, Oksana Suchowersky, Rani K Sachdev, Olivier Lichtarge, Jianrong Tang, Kym M Boycott, J Lloyd Holder, Huda Y Zoghbi,

Certain mutations can cause proteins to accumulate in neurons, leading to neurodegeneration. We recently showed, however, that upregulation of a wild-type protein, Ataxin1, caused by haploinsufficiency of its repressor, the RNA-binding protein Pumilio1 (PUM1), also causes neurodegeneration in mice. We therefore searched for human patients with PUM1 mutations. We identified eleven ... Read more >>

Cell (Cell)
[2018, 172(5):924-936.e11]

Cited: 20 times

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

Shuenn-Nan Chiu, Jieh-Neng Wang, Yun-Ching Fu, Hung-Tao Chung, Ling-Yin Chang, Mei-Hwan Wu, Yu-Chuan Hua, Ming-Tai Lin, Chun-Wei Lu, Chun-An Chen, Jing-Ming Wu, Jou-Kou Wang,

OBJECTIVE:To analyze the efficacy of a novel palivizumab protocol for hemodynamically significant congenital heart disease (hsCHD) in subtropical areas without clear respiratory syncytial virus seasonality. STUDY DESIGN:Since July 2013, the National Health Insurance program has provided reimbursement for palivizumab prophylaxis with a novel monthly protocol in selected patients with hsCHD ... Read more >>

J. Pediatr. (The Journal of pediatrics)
[2018, 195:108-114.e1]

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

Kun-Lang Wu, Shuenn-Nan Chiu, Chun-An Chen, Chun-Wei Lu, Wei-Chieh Tseng, Jou-Kou Wang, Mei-Hwan Wu,

J Electrocardiol (Journal of electrocardiology)
[2018, 51(3):452-456]

Cited: 1 time

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Synthesis of In-Plane Artificial Lattices of Monolayer Multijunctions.

Kuan-Chang Chiu, Kuan-Hua Huang, Chun-An Chen, Ying-Yu Lai, Xin-Quan Zhang, Erh-Chen Lin, Meng-Hsi Chuang, Jenn-Ming Wu, Yi-Hsien Lee,

Recently, monolayers of van der Waals materials, including transition metal dichalcogenides (TMDs), are considered ideal building blocks for constructing 2D artificial lattices and heterostructures. Heterostructures with multijunctions of more than two monolayer TMDs are intriguing for exploring new physics and materials properties. Obtaining in-plane heterojunctions of monolayer TMDs with atomically ... Read more >>

Adv. Mater. Weinheim (Advanced materials (Deerfield Beach, Fla.))
[2018, 30(7):]

Cited: 1 time

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Implantable cardioverter defibrillator therapy in repaired tetralogy of Fallot after pulmonary valve replacement: Implications for the mechanism of ventricular arrhythmia.

Shuenn-Nan Chiu, Shu-Chien Huang, Jou-Kou Wang, Chun-Wei Lu, Ling-Yin Chang, Ming-Tai Lin, Chun-An Chen, Yih-Sharng Chen, Mei-Hwan Wu,

Ventricular tachycardia (VT), which is related to haemodynamic and electrophysiological alterations, is an important complication in repaired tetralogy of Fallot (rTOF) patients. We defined the role of implantable cardioverter defibrillator (ICD) therapy after pulmonary valve replacement (PVR) and the implications of coexisting long QT gene mutations/polymorphisms.From 2003 to 2016, rTOF ... Read more >>

Int. J. Cardiol. (International journal of cardiology)
[2017, 249:156-160]

Cited: 3 times

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

Ming-Tai Lin, Chun-An Chen, Jui-Yu Hsu, Hsin-Chia Lin, Shuenn-Nan Chiu, Shu-Man Lin, Ya-Mei Chang, Chun-Wei Lu, Mei-Hwan Wu, Jou-Kou Wang,

JACC Cardiovasc Interv (JACC. Cardiovascular interventions)
[2017, 10(21):2227-2228]

Cited: 1 time

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

Chun-An Chen, Daniëlle G M Bosch, Megan T Cho ScM, Jill A Rosenfeld, Marwan Shinawi, Richard Alan Lewis, John Mann, Parul Jayakar, Katelyn Payne, Laurence Walsh, Timothy Moss, Allison Schreiber, Cheri Schoonveld, Kristin G Monaghan, Frances Elmslie, Ganka Douglas, F Nienke Boonstra, Francisca Millan, Frans P M Cremers, Dianalee McKnight, Gabriele Richard, Jane Juusola, Fran Kendall, Keri Ramsey, Kwame Anyane-Yeboa, Elfrida Malkin, Wendy K Chung, Dmitriy Niyazov, Juan M Pascual, Magdalena Walkiewicz, Vivekanand Veluchamy, Chumei Li, Fuki M Hisama, Bert B A de Vries, Christian Schaaf,

This corrects the article DOI: 10.1038/gim.2016.18. ... Read more >>

Genet. Med. (Genetics in medicine : official journal of the American College of Medical Genetics)
[2017, 19(8):962]

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