Stephan Züchner

Also affiliated with Palo Alto University, University of Miami Hospital, 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 6%percentile

0.340Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63904

Top 51%

0.340DataRank

Top 51%7 citations

Rory J. Tinker, Stephanie Bivona, Carson Smith, Theodore Krijnse Locker, Samuela A. Fernandes +7 more

Papers

Driven by 34 papers — median percentile 49. Top paper: “Investigation of hypertension and type 2 diabetes as risk factors for dementia in the All of Us cohort”.

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

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63904

Top 51%

0.340DataRank

Top 51%7 citations

Rory J. Tinker, Stephanie Bivona, Carson Smith, Theodore Krijnse Locker, Samuela A. Fernandes +7 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

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

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

New England Journal of Medicine(2022)10.1056/nejmoa2207406

N/A

0DataRank · unranked

251 citations

Matt C. Danzi, Carlo Wilke, M. Renaud, Sarah Fazal, Marie‐Josée Dicaire +46 more

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

0DataRank · unranked

30 citations

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

Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation

Human Molecular Genetics(2022)10.1093/hmg/ddac173

N/A

0DataRank · unranked

13 citations

Matt C. Danzi, André B. P. Kuilenburg, Selina Reich, Andreas Traschütz, Benjamin Bender +13 more

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

Brain(2022)10.1093/brain/awac240

N/A

0DataRank · unranked

8 citations

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

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

Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints

Annals of Neurology(2023)10.1002/ana.26633

N/A

0DataRank · unranked

27 citations

David N. Herrmann, Davide Pareyson, Steven S. Scherer, Richard S. Finkel, Stephan Züchner +3 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

Thirty-Year Follow-Up of Early Onset Amyotrophic Lateral Sclerosis with a Pathogenic Variant in SPTLC1

Case Reports in Neurology(2023)10.1159/000530974

N/A

0DataRank · unranked

1 citations

Shawna Feely, Michael E. Shy, Christina Trout, Stephan Züchner, Steven A. Moore +2 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

0DataRank · unranked

9 citations

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

Characterization and visualization of tandem repeats at genome scale

Nature Biotechnology(2024)10.1038/s41587-023-02057-3

N/A

0DataRank · unranked

128 citations

Adam C. English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J. Rowell +18 more

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

Nature Genetics(2024)10.1038/s41588-024-01808-5

N/A

0DataRank · unranked

34 citations

Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung +95 more

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)

Annals of Neurology(2024)10.1002/ana.27060

N/A

0DataRank · unranked

31 citations

Anirudh N. Eranki, Hannah A. Stevens, Sonya Watson, Darice Y. Wong, Veronica S. Avila +28 more

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

EBioMedicine(2024)10.1016/j.ebiom.2024.105297

N/A

0DataRank · unranked

12 citations

Cesar Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli +46 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 First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non‐kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient

Movement Disorders(2024)10.1002/mds.30087

N/A

0DataRank · unranked

4 citations

Н. В. Смолина, Şeyma Tekgül, Tuğçe Gül, Ahmet Yeşilyurt, Henry Houlden +5 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

Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

Journal of Clinical Investigation(2024)10.1172/jci178919

N/A

0DataRank · unranked

3 citations

Laura Planas‐Serra, Abigail Sveden, Amy Tam, Hyo‐Min Kim, Umar Zubair +10 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

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

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

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

N/A

0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 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

Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy

Genetics in Medicine(2025)10.1016/j.gim.2025.101399

N/A

0DataRank · unranked

5 citations

Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Enzo Cohen +32 more

Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases

Translational Neurodegeneration(2025)10.1186/s40035-025-00516-2

N/A

0DataRank · unranked

1 citations

Wenan Chen, Joanne Wuu, Angita Jain, Jason R. Myers, Isabell Cordts +26 more

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

medRxiv(2025)10.1101/2025.10.01.25336578

N/A

0DataRank · unranked

0 citations

Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Stefania Magri +37 more

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Brain(2020)10.1093/brain/awaa323

N/A

0DataRank · unranked

92 citations

Shawna Feely, James M. Polke, Mariola Skorupinska, Laura Pérez, Rosemary Shy +55 more

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Journal of Clinical Investigation(2025)10.1172/jci184474

N/A

0DataRank · unranked

0 citations

Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Q. Lin, J. Parmar +76 more

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Neurology(2020)10.1212/wnl.0000000000009035

N/A

0DataRank · unranked

53 citations

Stefan Sillau, Gyula Acsádi, Chelsea Bacon, Kimberly Dooley, Joshua Burns +32 more

Stephan Züchner

Indexed papers

Top data-sharing exemplar

Papers