Yuxin Fan

发表

Inherited Cardiomyopathies: Genetics and Clinical Genetic Testing

D. Penny, Ruirui Ji, Guoliang Wang, 2017 .

Heritable Thoracic Aortic Disease Genes in Sporadic Aortic Dissection.

D. Nickerson, S. Leal, S. Lemaire, 2017, Journal of the American College of Cardiology.

Functional Changes in Pulmonary Arterial Endothelial Cells Associated with BMPR2 Mutations

Z. Li, D. Penny, Ruirui Ji, 2014, PloS one.

Genetic testing of 10 patients with features of Loeys-Dietz syndrome.

Zhou Zhou, Qianlong Chen, M. Luo, 2016, Clinica chimica acta; international journal of clinical chemistry.

Novel homozygous BMP9 nonsense mutation causes pulmonary arterial hypertension: a case report

D. Penny, Ruirui Ji, Guoliang Wang, 2016, BMC Pulmonary Medicine.

Paucity of skeletal manifestations in Hispanic families with FBN1 mutations.

J. Coselli, S. Lemaire, J. Towbin, 2010, European journal of medical genetics.

Missense mutations in FBN1 exons 41 and 42 cause Weill–Marchesani syndrome with thoracic aortic disease and Marfan syndrome

D. Milewicz, R. Lewis, D. Guo, 2013, American journal of medical genetics. Part A.

Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.

Xiaogang Sun, Zhou Zhou, Qianlong Chen, 2016, Clinica chimica acta; international journal of clinical chemistry.

Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting

Qifu Li, B. Geng, Jiuchang Zhong, 2020, Journal of Medical Genetics.

Concomitant presentation of Anderson-Tawil syndrome and myasthenia gravis in an adult patient: A case report

Ruirui Ji, J. Luo, Guoliang Wang, 2016, Experimental and therapeutic medicine.

Parvovirus B19 Myocarditis Causes Significant Morbidity and Mortality in Children

J. Towbin, D. Nelson, W. Morrow, 2013, Pediatric Cardiology.

FUNCTIONAL CHARACTERIZATION OF KCNJ2 MISSENSE VARIANTS IDENTIFIED IN PATIENTS WITH ANDERSEN-TAWIL SYNDROME

D. Penny, Yutao Xi, Yuxin Fan, 2012 .

Viral endomyocardial infection in the 1st year post transplant is associated with persistent inflammation in children who have undergone cardiac transplant

J. Towbin, W. Dreyer, M. Moulik, 2013, Cardiology in the Young.

A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome.

V. Kimonis, E. McCabe, W. Kulik, 2013, JIMD reports.

Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals

J. Rosenfeld, Yaping Yang, D. Penny, 2017, Circulation. Arrhythmia and electrophysiology.

Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

R. Hui, Xiao-jian Wang, K. Sun, 2010, American journal of human genetics.

Genetic testing of 248 Chinese aortopathy patients using a panel assay

Zhou Zhou, M. Luo, Yandong Cao, 2016, Scientific Reports.

Application of NGS in the Diagnosis of Cardiovascular Genetic Diseases

D. Penny, Ruirui Ji, Guoliang Wang, 2017 .

Genetics and its Associated Pathways of Pulmonary Arterial Hypertension

D. Penny, Yuxin Fan, Rui-yun Fan, 2016 .

A novel Alu‐mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome

J. Towbin, M. Vatta, Harinder R. Singh, 2009, American journal of medical genetics. Part A.

Hypertrophic cardiomyopathy: Can the noninvasive diagnostic testing identify high risk patients?

P. Kowey, A. Baranchuk, Li Zhang, 2014, World journal of cardiology.

Risk of sudden cardiac death in EXOSC5‐related disease

J. Lupski, R. Gibbs, S. Jhangiani, 2021, American journal of medical genetics. Part A.

Variant R94C in TNNT2‐Encoded Troponin T Predisposes to Pediatric Restrictive Cardiomyopathy and Sudden Death Through Impaired Thin Filament Relaxation Resulting in Myocardial Diastolic Dysfunction

Sarah R. Clippinger, W. Dreyer, M. Greenberg, 2020, Journal of the American Heart Association.

Early onset severe pulmonary arterial hypertension with 'two-hit' digenic mutations in both BMPR2 and KCNA5 genes.

Lei Li, D. Penny, Ruirui Ji, 2014, International journal of cardiology.

DYNAMIC RETINA VESSEL COLOR CHANGE DURING OCULAR COMPRESSION IN SEVERE LIPEMIA RETINALIS

J. B. Gibson, Yuxin Fan, R. W. Wong, 2017, Retinal cases & brief reports.

LAMP2 Microdeletions in Patients With Danon Disease

B. Wong, J. Towbin, B. Funke, 2010, Circulation. Cardiovascular genetics.

- 1-LAMP 2 Microdeletions in Patients with Danon Disease Running

B. Wong, J. Towbin, B. Funke, 2010 .

Hereditary pulmonary arterial hypertension burden in pediatrics: A single referral center experience

D. Penny, D. Lopez-Terrada, E. Whalen, 2023, Frontiers in Pediatrics.

Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture

X. Wehrens, Jeffrey J. Kim, David Y. Chiang, 2015, Circulation. Arrhythmia and electrophysiology.

A novel Alu‐mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome

J. Towbin, M. Vatta, Harinder R. Singh, 2009, American journal of medical genetics. Part A.

Long QT syndrome, cardiovascular anomaly and findings in ECG-guided genetic testing

P. Kowey, Li Zhang, D. Penny, 2014 .