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Genetics

D-Index
94
Citations
27747
World Ranking
940
National Ranking
463

Overview

Stephan Züchner is affiliated with the University of Miami in the United States and has extensive contributions spanning several interconnected fields of study. Their research primarily focuses on Biochemistry, Genetics and Molecular Biology, Neuroscience, and Medicine. Within these areas, their work engages deeply with subfields such as Cellular and Molecular Neuroscience, Molecular Biology, Neurology, Genetics, and Cell Biology.

The main topics addressed in Züchner's body of research include Genetic Neurodegenerative Diseases, Mitochondrial Function and Pathology, Hereditary Neurological Disorders, Neurological diseases and metabolism, Neurogenetic and Muscular Disorders Research, Neurological disorders and treatments, and Genomics and Rare Diseases.

Züchner has published extensively in notable scientific journals. Frequent publication venues include Brain, Neurology, bioRxiv (Cold Spring Harbor Laboratory), Annals of Neurology, and the Journal of Neurology. The number of publications in these venues reflects a sustained research commitment in these areas.

Their recent papers cover a range of studies, including:

  • Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia, 2022, New England Journal of Medicine
  • Characterization and visualization of tandem repeats at genome scale, 2024, Nature Biotechnology
  • GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response, 2023, Brain
  • Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study, 2020, Brain
  • A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores, 2020, Neurology

Frequent collaborators in Züchner's research include Matt C. Danzi, Henry Houlden, Adriana Rebelo, David Pellerin, and Matthis Synofzik. These co-authors have contributed significantly to multiple publications, indicating an active collaborative research network.

Best Publications

  • Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.

    Stephan Züchner;Stephan Züchner;Irina V Mersiyanova;Maria Muglia;Nisrine Bissar-Tadmouri;Nisrine Bissar-Tadmouri

  • The Human Phenotype Ontology in 2017

    Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  • dSarm/Sarm1 Is Required for Activation of an Injury-Induced Axon Death Pathway

    Jeannette M. Osterloh;Jing Yang;Timothy M. Rooney;A. Nicole Fox

  • Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

    Aude Nicolas;Kevin P. Kenna;Alan E. Renton;Alan E. Renton;Nicola Ticozzi

  • TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

    Ian R. Mackenzie;Alexandra M. Nicholson;Mohona Sarkar;James Messing

  • Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease.

    Todd L. Edwards;Todd L. Edwards;William K. Scott;Cherylyn Almonte;Amber Burt

  • Variation in the miRNA-433 Binding Site of FGF20 Confers Risk for Parkinson Disease by Overexpression of α-Synuclein

    Gaofeng Wang;Joelle M. van der Walt;Gregory Mayhew;Yi Ju Li

  • The Matchmaker Exchange: a platform for rare disease gene discovery

    Anthony A. Philippakis;Anthony A. Philippakis;Anthony A. Philippakis;Danielle R. Azzariti;Sergi Beltran;Anthony J. Brookes

  • MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2.

    Kristien Verhoeven;Kristl G. Claeys;Stephan Züchner;Stephan Züchner;J. Michael Schröder

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

    Andrea Cortese;Roberto Simone;Roisin Sullivan;Jana Vandrovcova

  • Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2.

    Stephan Züchner;Peter De Jonghe;Albena Jordanova;Albena Jordanova;Kristl G. Claeys

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

    Stephan Züchner;Stephan Züchner;Maher Noureddine;Marina Kennerson;Kristien Verhoeven

  • Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy

    Nadine Norton;Duanxiang Li;Mark J. Rieder;Jill D. Siegfried

  • Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.

    Rebecca Schüle;Sarah Wiethoff;Peter Martus;Kathrin N. Karle;Kathrin N. Karle

  • CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis

    V Fridman;B Bundy;M M Reilly;D Pareyson

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

    Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  • Regulation of the Epigenome by Vitamin C

    Juan I. Young;Stephan Züchner;Gaofeng Wang

  • Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

    Stephan Züchner;Gaofeng Wang;Khanh Nhat Tran-Viet;Martha A. Nance

  • Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success

    Vincent Timmerman;Alleene V. Strickland;Stephan Züchner

  • Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

    Asli Sirmaci;Michail Spiliopoulos;Francesco Brancati;Francesco Brancati;Francesco Brancati;Eric Powell

Frequent Co-Authors

Rebecca Schüle
Rebecca Schüle University of Tübingen
Margaret A. Pericak-Vance
Margaret A. Pericak-Vance University of Miami
Ludger Schöls
Ludger Schöls University of Tübingen
Jeffery M. Vance
Jeffery M. Vance University of Miami
Michael E. Shy
Michael E. Shy University of Iowa
Mary M. Reilly
Mary M. Reilly University College London
Peter De Jonghe
Peter De Jonghe University of Antwerp
Garth A. Nicholson
Garth A. Nicholson University of Sydney
Eden R. Martin
Eden R. Martin University of Miami
Steven S. Scherer
Steven S. Scherer University of Pennsylvania

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