Stephan Züchner

Also affiliated with Dr. John T. Macdonald Foundation

NeuroscienceBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 3%percentile

1.2Author DataRank

Indexed papers

4in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 4 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Genetic ancestry and population structure in the All of Us Research Program cohort

Nature Communications(2025)10.1038/s41467-025-59351-8

Top 37%

0.518DataRank

Top 37%15 citations

Shashwat Deepali Nagar, Priscilla Pemu, Stephan Züchner, Robert Meller, Alexander Quarshie +50 more

Papers

Driven by 54 papers — median percentile 59. Top paper: “BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease”.

BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Genetics in Medicine(2022)10.1016/j.gim.2022.08.019

N/A

1.0DataRank · unranked

30 citations

Ariel Ruiz, Maike F. Dohrn, Melanie Wayand, Amjad Farooq, Matt C. Danzi +14 more

Investigation of hypertension and type 2 diabetes as risk factors for dementia in the All of Us cohort

Scientific Reports(2022)10.1038/s41598-022-23353-z

N/A

1.0DataRank · unranked

27 citations

Priscilla Pemu, Jun Qian, Eric Boerwinkle, Mine Cicek, Cheryl R. Clark +63 more

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

EBioMedicine(2024)10.1016/j.ebiom.2024.105076

N/A

0.633DataRank · unranked

67 citations

Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton +12 more

Defining a tandem repeat catalog and variation clusters for genome-wide analyses

10.1101/2024.10.04.615514

N/A

0.550DataRank · unranked

15 citations

Egor Dolzhenko, Mark F. Bennett, Matt C. Danzi, Isaac R. L. Xu, Hope Tanudisastro +18 more

Genetic ancestry and population structure in the All of Us Research Program cohort

Nature Communications(2025)10.1038/s41467-025-59351-8

Top 37%

0.518DataRank

Top 37%15 citations

Shashwat Deepali Nagar, Priscilla Pemu, Stephan Züchner, Robert Meller, Alexander Quarshie +50 more

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia

Movement Disorders(2022)10.1002/mds.28959

N/A

0.494DataRank · unranked

26 citations

Jonathan De Winter, Danique Beijer, Giulia Coarelli, Melanie Wayand, Robin Palvadeau +33 more

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.06.631535

Top 41%

0.461DataRank

Top 41%11 citations

Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd +30 more

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

Brain(2024)10.1093/brain/awae312

N/A

0.425DataRank · unranked

16 citations

Jean‐Loup Méreaux, Susana Boluda, Matt C. Danzi, Marie-Josée Dicaire, Claire-Sophie Davoine +32 more

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

Genome Research(2025)10.1101/gr.279323.124

N/A

0.425DataRank · unranked

11 citations

Bohan Ni, Chloe Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner +13 more

A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.11.540430

N/A

0.345DataRank · unranked

9 citations

Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Marie‐Josée Dicaire, Stephan Züchner +18 more

Expanding PRDX3 disease: broad range of onset age and infratentorial MRI signal changes

Brain(2022)10.1093/brain/awac240

N/A

0.330DataRank · unranked

8 citations

Benjamin Bender, Tobias B. Haack, Stephan Züchner, A. Nazlı Başak, Matthis Synofzik +1 more

The Spastic Paraplegia–Centers of Excellence Research Network (SP-CERN)

Neurology Genetics(2025)10.1212/nxg.0000000000200249

Top 61%

0.241DataRank

Top 61%4 citations

Vicente Quiroz, Kathryn Yang, Joshua Rong, Nicole Battaglia, Umar Zubair +19 more

Restoring Shank3 in a rostral sensorimotor brainstem nucleus rescues reduced light-evoked behaviors in shank3ab-/- zebrafish.

Research Square(2021)10.21203/rs.3.rs-83115/v1

N/A

0DataRank · unranked

0 citations

David M. James, Ivan Varela, Sureni H. Sumathipala, Stephan Züchner, Julia E. Dallman +1 more

Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness

BMC Biology(2022)10.1186/s12915-022-01241-2

N/A

0DataRank · unranked

26 citations

Dan Bar-Yaacov, Dana Kasztan, Tali Neiger, Tal Cohen, Mor Kishner +10 more

Revisiting the Latino Epidemiologic Paradox: an Analysis of Data from the All of Us Research Program

Journal of General Internal Medicine(2022)10.1007/s11606-022-07625-y

N/A

0DataRank · unranked

11 citations

Jacob L. McCauley, Rosario Isasi, Stephan Züchner, Olveen Carrasquillo, Raúl A Montañez-Valverde

Deep structured learning for variant prioritization in Mendelian diseases

Nature Communications(2023)10.1038/s41467-023-39306-7

N/A

0DataRank · unranked

43 citations

Maike F. Dohrn, Sarah Fazal, Danique Beijer, Stephan Züchner, Vívian Pedigone Cintra +2 more

Sorbitol reduction via govorestat ameliorates synaptic dysfunction and neurodegeneration in sorbitol dehydrogenase deficiency

JCI Insight(2023)10.1172/jci.insight.164954

N/A

0DataRank · unranked

31 citations

Amanda G. Lobato, Stephan Züchner, Tijana Canic, Natalie Ortiz-Vega, Xianzun Tao +9 more

Recurrentde-novo gain-of-functionmutation inSPTLC2confirms dysregulated sphingolipid production to cause juvenile amyotrophic lateral sclerosis

Journal of Neurology Neurosurgery & Psychiatry(2023)10.1136/jnnp-2023-332130

N/A

0DataRank · unranked

14 citations

Danique Beijer, Museer A. Lone, Elif Bayraktar, Piraye Oflazer, Rotem Orbach +15 more

The phenotypic spectrum of pathogenic ATP1A1 variants expands: the novel p.P600R substitution causes demyelinating Charcot–Marie–Tooth disease

Journal of Neurology(2023)10.1007/s00415-023-11581-w

N/A

0DataRank · unranked

10 citations

Paschalis Nicolaou, Kerri Spontarelli, Maike F. Dohrn, Stephan Züchner, Pantelitsa Koutsou +6 more

Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response

medRxiv(2023)10.1101/2023.07.30.23293380

N/A

0DataRank · unranked

10 citations

Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton +12 more

Testing SIPA1L2 as a modifier of CMT1A using mouse models

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.11.30.569428

N/A

0DataRank · unranked

0 citations

Timothy J. Hines, Abigail L. D. Tadenev, Isaac Xu, Stephan Züchner, Robert W. Burgess +1 more

Dominant NARS1 mutations causing axonal Charcot–Marie–Tooth disease expand NARS1-associated diseases

Brain Communications(2024)10.1093/braincomms/fcae070

N/A

0DataRank · unranked

18 citations

Sheila Marte, Jiaxin C Li, Willem De Ridder, Jessie Z Chen, Abigail L. D. Tadenev +12 more

SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights

Brain(2024)10.1093/brain/awae079

N/A

0DataRank · unranked

10 citations

Clemer Abad, Maike F. Dohrn, Jian J. Li, Ethan Kim Tieu, Jessica Medina +9 more

Loss of Fic causes progressive neurodegeneration in a Drosophila model of hereditary spastic paraplegia

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease(2024)10.1016/j.bbadis.2024.167348

N/A

0DataRank · unranked

10 citations

Natalie Ortiz-Vega, Tijana Canic, Xianzun Tao, Nika Bucan, Kai Ruan +6 more

The FGF14 GAA repeat expansion is a major cause of ataxia in the Cypriot population

Brain Communications(2024)10.1093/braincomms/fcae479

N/A

0DataRank · unranked

8 citations

Christina Votsi, Kyriaki Michailidou, David Pellerin, Bernard Brais, Stephan Züchner +5 more

SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation

Nature Communications(2024)10.1038/s41467-024-45933-5

N/A

0DataRank · unranked

10 citations

Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü +52 more

Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN

Neurology Genetics(2024)10.1212/nxg.0000000000200210

N/A

0DataRank · unranked

4 citations

David Pellerin, Matt C. Danzi, Stephan Züchner, Bernard Brais, Gabriel Matos‐Rodrigues +7 more

EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63556

N/A

0DataRank · unranked

6 citations

Steven Lang, Matthew J. Rodier, Stephanie Bivona, Undiagnosed Diseases Network, Alejo A. Morales +4 more

A recurrent missense variant in ITPR3 causes demyelinating Charcot-Marie-Tooth with variable severity

Brain(2024)10.1093/brain/awae206

N/A

0DataRank · unranked

3 citations

Maike F. Dohrn, Stephan Züchner, Matt C. Danzi, Bianca R. Grosz, Melina Ellis +23 more

Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51963

N/A

0DataRank · unranked

3 citations

Güney Bademci, Stephan Züchner, Médéric Jeanne, Nicholas A. Borja, Danique Beijer +8 more

Generation of 3 patient induced Pluripotent stem cell lines containing SORD mutations linked to a recessive neuropathy

Stem Cell Research(2024)10.1016/j.scr.2024.103449

N/A

0DataRank · unranked

1 citations

Renata de Moraes Maciel, Elizabeth Jacobs, Jacquelyn Schatzman, Michael E. Shy, Stephan Züchner +2 more

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A

Journal of the Peripheral Nervous System(2024)10.1111/jns.12621

N/A

0DataRank · unranked

1 citations

Matt C. Danzi, Ariel Ruiz, Jacquelyn Raposo, Yeisha Arcia de Jesus, Mary M. Reilly +16 more

Neuroradiological findings in GAA- FGF14 ataxia (SCA27B): more than cerebellar atrophy

medRxiv(2024)10.1101/2024.02.16.24302945

N/A

0DataRank · unranked

9 citations

Catherine Ashton, Rawan Sakalla, Guillemette Clément, Sophie Planel, Céline Bonnet +22 more

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

medRxiv(2024)10.1101/2024.03.22.24304565

N/A

0DataRank · unranked

5 citations

Bohan Ni, Chloe Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner +13 more

Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum

medRxiv(2024)10.1101/2024.07.01.24309777

N/A

0DataRank · unranked

3 citations

Jean‐Loup Méreaux, Susana Boluda, Matt C. Danzi, Marie-Josée Dicaire, Claire-Sophie Davoine +32 more

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features

medRxiv(2024)10.1101/2024.09.23.24313872

N/A

0DataRank · unranked

3 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +33 more

Testing SIPA1L2 as a modifier of CMT1A using mouse models

Journal of Neuropathology & Experimental Neurology(2024)10.1093/jnen/nlae020

N/A

0DataRank · unranked

0 citations

Timothy J. Hines, Abigail L. D. Tadenev, Isaac Xu, Stephan Züchner, Robert W. Burgess +1 more

Author Correction: The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities

Communications Biology(2024)10.1038/s42003-024-06408-x

N/A

0DataRank · unranked

0 citations

Karynne Patterson, Divya Kalra, Marsha M. Wheeler, Yi–Ju Chen, Sara E. Kalla +93 more

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

Brain(2025)10.1093/brain/awaf021

N/A

0DataRank · unranked

7 citations

Maike F. Dohrn, Riccardo Curró, Sara Negri, Petra Laššuthová, Chiara Pisciotta +76 more

Contributors

Genomic and Personalized Medicine(2009)10.1016/b978-0-12-369420-1.00122-0

N/A

0DataRank · unranked

0 citations

Matthew L. Anderson, Felicita Andreotti, Brian H. Annex, Anthony Antonellis, Dmitri Artemov +272 more

Asparaginyl-tRNA synthetase (NARS1) variants implicated in dominant neurological phenotypes display dominant-negative properties

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100519

N/A

0DataRank · unranked

0 citations

Keyana Blake, Brendan L M Sutton, Marina Konyukh, Stephan Züchner, Tanya Stojkovic +3 more

Long-term response to aminopyridines in a cohort of patients with ataxia associated with downbeat nystagmus due to the FGF14 GAA expansion

Neurología(2025)10.1016/j.nrl.2025.501924

N/A

0DataRank · unranked

0 citations

Myriam De la Cruz‐Puebla, David Pellerin, Cèlia Painous, M.I. Álvarez-Mora, Marie‐Josée Dicaire +5 more

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants

Brain(2025)10.1093/brain/awaf219

N/A

0DataRank · unranked

3 citations

Christopher P. Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A. Peterson, Davide Pareyson +47 more

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Brain(2020)10.1093/brain/awz418

N/A

0DataRank · unranked

221 citations

Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane +37 more

Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

PLoS ONE(2020)10.1371/journal.pone.0230566

N/A

0DataRank · unranked

79 citations

Evan Sarmiento, Nicole Belliard Martuscelli, David Sant, Matt C. Danzi, Alexander J. Abrams +3 more

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

Journal of Neuromuscular Diseases(2020)10.3233/jnd-200510

N/A

0DataRank · unranked

19 citations

Serdal Güngör, Lena Zeltner, Sarah Wiethoff, Lüdger Schöls, Ece Sönmezler +16 more

The genetic landscape of axonal neuropathies in the middle-aged and elderly

Neurology(2020)10.1212/wnl.0000000000011132

N/A

0DataRank · unranked

31 citations

Petra Laššuthová, Dagmara Kabzińska, Lisa Abreu, Jonathan Baets, Christian Beetz +52 more

Axon-secreted chemokine-like Orion is a signal for astrocyte infiltration during neuronal remodeling

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.23.394049

N/A

0DataRank · unranked

0 citations

Camille Thinat, Stephan Züchner, Lee G. Fradkin, Hugues Lortat‐Jacob, Jean‐Maurice Dura +1 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Axonal chemokine-like Orion induces astrocyte infiltration and engulfment during mushroom body neuronal remodeling

Nature Communications(2021)10.1038/s41467-021-22054-x

N/A

0DataRank · unranked

26 citations

Camille Thinat, Stephan Züchner, Lee G. Fradkin, Hugues Lortat‐Jacob, Jean‐Maurice Dura +1 more

TSG101 negatively regulates mitochondrial biogenesis in axons

Proceedings of the National Academy of Sciences(2021)10.1073/pnas.2018770118

N/A

0DataRank · unranked

26 citations

Dana M. Bis‐Brewer, Amy E. Sheehan, Louise Townsend, Daniel C. Maddison, Stephan Züchner +3 more

Restoring Shank3 in the rostral brainstem of shank3ab−/− zebrafish autism models rescues sensory deficits

Communications Biology(2021)10.1038/s42003-021-02920-6

N/A

0DataRank · unranked

22 citations

David M. James, Ivan Varela, Sureni H. Sumathipala, Stephan Züchner, Julia E. Dallman +1 more

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort

Journal of the Neurological Sciences(2021)10.1016/j.jns.2021.117498

N/A

0DataRank · unranked

11 citations

Maike F. Dohrn, Pedro José Tomaselli, Fernanda Barbosa Figueiredo, Sandra Elisabete Marques, Sarah Camargos +7 more

Elevated preoptic brain activity in zebrafish glial glycine transporter mutants is linked to lethargy-like behaviors and delayed emergence from anesthesia

Scientific Reports(2021)10.1038/s41598-021-82342-w

N/A

0DataRank · unranked

7 citations

Owen Randlett, Sureni H. Sumathipala, Richard Bindernagel, Matthew J. Stark, Qing Yan +9 more

Stephan Züchner

Indexed papers

Top data-sharing exemplar

Papers