Matt C. Danzi

Also affiliated with Swiss Paraplegic Center, Dr. John T. Macdonald Foundation

NeuroscienceBiochemistry, Genetics and Molecular BiologyMedicine

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 4%percentile

0.703Author DataRank

Indexed papers

5in 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 5 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.

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

Papers

Driven by 27 papers — median percentile 49. 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

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

New England Journal of Medicine(2022)10.1056/nejmoa2207406

N/A

0.831DataRank · unranked

253 citations

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

Deep structured learning for variant prioritization in Mendelian diseases

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

N/A

0.574DataRank · unranked

45 citations

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

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

Annals of Neurology(2024)10.1002/ana.27060

N/A

0.520DataRank · unranked

31 citations

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

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

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

Translesion DNA synthesis-driven mutagenesis in very early embryogenesis of fast cleaving embryos

10.1101/2020.11.28.401471

N/A

0.208DataRank · unranked

3 citations

Isabelle Busseau, Claudio Lorenzi, Cima Saghira, Matt C. Danzi, Stephan Züchner +2 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

0.208DataRank · unranked

3 citations

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

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

The American Journal of Human Genetics(2026)10.1016/j.ajhg.2026.03.020

N/A

0.208DataRank · unranked

3 citations

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

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

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

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

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

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

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

Phenotypic Screening Following Transcriptomic Deconvolution to Identify Transcription Factors Mediating Axon Growth Induced by a Kinase Inhibitor

SLAS DISCOVERY(2021)10.1177/24725552211026270

N/A

0DataRank · unranked

4 citations

Nicholas K. O’Neill, Matt C. Danzi, Hassan Al‐Ali, John L. Bixby, Vance Lemmon +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

Enriched conditioning expands the regenerative ability of sensory neurons after spinal cord injury via neuronal intrinsic redox signaling

Nature Communications(2020)10.1038/s41467-020-20179-z

N/A

0DataRank · unranked

71 citations

Thomas H. Hutson, Ilaria Palmisano, Sarah Amachree, Jian Miao, Luming Zhou +9 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

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

Matt C. Danzi

Indexed papers

Top data-sharing exemplar

Papers