Sean B. Chong

发表

Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders

Albert R. Singleton, S. Arepalli, C. Sassi, 2013, European journal of neurology.

Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy.

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2016, American journal of human genetics.

A Two-Stage Meta-Analysis Identifies Several New Loci for Parkinson's Disease

Simon C. Potter, M. Pirinen, D. Hernandez, 2011, PLoS genetics.

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association

Luigi Ferrucci, Anna Murray, Hanieh Yaghootkar, 2011, Human molecular genetics.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Patrizia Sola, Joanne Wuu, Michael Benatar, 2011, Neuron.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2010, Neuron.

Edinburgh Research Explorer Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

Allissa Dillman, John Hardy, Michael E. Weale, 2022 .

Distinct DNA methylation changes highly correlated with chronological age in the human brain.

Mark R Cookson, Andrew B Singleton, D. Hernandez, 2011, Human molecular genetics.

Multiple Loci Are Associated with White Blood Cell Phenotypes

Christian Gieger, Yusuke Nakamura, Kazuhiko Yamamoto, 2011, PLoS genetics.

Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity.

Henry Houlden, Andrew B Singleton, D. Hernandez, 2013, American journal of human genetics.

SLC25A46 Mutations Associated with Autosomal Recessive Cerebellar Ataxia in North African Families

D. Hernandez, A. Singleton, A. Durr, 2017, Neurodegenerative Diseases.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Jean-François Dartigues, Günther Deuschl, Yoav Ben-Shlomo, 2017, Genome Biology.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, D. Hernandez, 2010, Neuron.

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2017, Brain : a journal of neurology.

Discovery and functional prioritization of Parkinson’s disease candidate genes from large-scale whole exome sequencing

Simon C. Potter, Miguel Ángel Martínez, C. Spencer, 2017, Genome Biology.

A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease.

D. Hernandez, M. Nalls, A. Singleton, 2013, Human molecular genetics.

Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

Janel O. Johnson, D. Hernandez, M. Nalls, 2011, Archives of neurology.

A genome-wide association study of myasthenia gravis.

Sonja W. Scholz, Hannah A. Pliner, Janel O. Johnson, 2015, JAMA neurology.

Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain

S. Bandinelli, A. Zonderman, B. Traynor, 2012, Neurobiology of Disease.

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

Sonja W. Scholz, Janel O. Johnson, J. Trojanowski, 2011, Neuron.