Stephan Züchner

发表

[Table, GeneReview Scope].

Matthis Synofzik, Robert B. Hufnagel, Stephan Züchner, 2015 .

Prot2HG: a database of protein domains mapped to the human genome

Stephan Züchner, David Stanek, Dana M. Bis-Brewer, 2020, Database J. Biol. Databases Curation.

SeqEM: an adaptive genotype-calling approach for next-generation sequencing studies

Michael A. Schmidt, Stephan Züchner, Eden R. Martin, 2010, Bioinform..

The Human Phenotype Ontology in 2017

Tudor Groza, Damian Smedley, Peter N. Robinson, 2016, Nucleic Acids Res..

SNPselector: a web tool for selecting SNPs for genetic association studies

Margaret A. Pericak-Vance, Judith E. Stenger, Hong Xu, 2005, Bioinform..

The COMT Val158Met polymorphism and temporal lobe morphometry in healthy adults

James R. MacFall, Warren D. Taylor, Martha E. Payne, 2007, Psychiatry Research: Neuroimaging.

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Zacharias Kohl, Jan Kassubek, Stephan Züchner, 2016, Annals of neurology.

Effects of Environmental Stress and Gender on Associations among Symptoms of Depression and the Serotonin Transporter Gene Linked Polymorphic Region (5-HTTLPR)

Cynthia M. Kuhn, Stephan Züchner, Ann Collins, 2008, Behavior genetics.

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Danqing Zhu, Stephan Züchner, M. Pericak-Vance, 2005, Nature Genetics.

Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era

Deborah A Nickerson, Stephan Züchner, Eden Martin, 2012, Circulation. Cardiovascular genetics.

Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia

Jana Vandrovcova, Henry Houlden, Zane Jaunmuktane, 2019, Nature Genetics.

Exome Sequencing of a Multigenerational Human Pedigree

Margaret A. Pericak-Vance, Dan Burges, Dale Hedges, 2009, PloS one.

Genomic convergence to identify candidate genes for Alzheimer Disease on chromosome 10

Stephan Züchner, J. Gilbert, J. Haines, 2009, Human mutation.

Somatic mtDNA Mutation Spectra in the Aging Human Putamen

Deborah C. Mash, Stephan Züchner, D. Mash, 2013, PLoS genetics.

Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease

Eden R Martin, Arpit Mehta, Stephan Züchner, 2013, Neurology.

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Maja Steinlin, Markus Wolff, Holger Lerche, 2015, Nature Genetics.

Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family

Stephan Züchner, William Hulme, S. Züchner, 2011, Annals of neurology.

The brain-derived neurotrophic factor VAL66MET polymorphism and cerebral white matter hyperintensities in late-life depression.

Stephan Züchner, Warren D Taylor, James R MacFall, 2008, The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry.

Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease

Eden R Martin, Todd L Edwards, Amber Burt, 2010, Annals of human genetics.

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Mary M. Reilly, Francesco Muntoni, Henry Houlden, 2015 .

Allelic differences in the brain-derived neurotrophic factor Val66Met polymorphism in late-life depression.

Stephan Züchner, Warren D Taylor, K. Krishnan, 2007, The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry.

Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

Alexandra Durr, Chokri Mhiri, Stephan Züchner, 2013, American journal of human genetics.

Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy.

Deborah A Nickerson, Stephan Züchner, Eden Martin, 2011, American journal of human genetics.