🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Darius Ebrahimi‐Fakhari

Boston Children's Hospital

ORCID: 0000-0002-0026-4714
NeuroscienceMedicineBiochemistry, 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 4%percentile
0.614Author DataRank

Indexed papers

2in 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 2 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 →

Top data-sharing exemplar

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

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine(2024)10.1038/s41525-024-00441-9
Top 48%
0.373DataRank
Top 48%11 citations

Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra +32 more

Papers

Driven by 29 papers — median percentile 45. Top paper: “High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia”.

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

Nature Communications(2024)10.1038/s41467-023-44264-1
N/A
0.624DataRank · unranked
23 citations

Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye +14 more

Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes

npj Genomic Medicine(2024)10.1038/s41525-024-00441-9
Top 48%
0.373DataRank
Top 48%11 citations

Nancy C. Andrews, Alan H. Beggs, Philip M. Boone, Catherine A. Brownstein, Maya Chopra +32 more

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia

Movement Disorders(2023)10.1002/mds.29524
N/A
0.373DataRank · unranked
11 citations

Afshin Saffari, M. L. ZIEGLER, Catherine Jordan, Amy Tam, So Young Kim +12 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

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51506
N/A
0DataRank · unranked
82 citations

Dustin L. Gable, Jamie Love‐Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz +34 more

AP-4-mediated axonal transport controls endocannabinoid production in neurons

Nature Communications(2022)10.1038/s41467-022-28609-w
N/A
0DataRank · unranked
55 citations

Julian E. Alecu, M. L. ZIEGLER, Catherine G. Vasilopoulou, Fabrizio Merciai, Hellen Jumo +5 more

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

Brain(2022)10.1093/brain/awac391
N/A
0DataRank · unranked
24 citations

Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang +29 more

Early‐Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Movement Disorders(2022)10.1002/mds.29225
N/A
0DataRank · unranked
21 citations

Afshin Saffari, Melanie Kellner, Marion Döbler‐Neumann, Catherine Jordan, Siddharth Srivastava +13 more

De novovariants cause complex symptoms in HSP-ATL1(SPG3A) and uncover genotype–phenotype correlations

Human Molecular Genetics(2022)10.1093/hmg/ddac182
N/A
0DataRank · unranked
18 citations

Afshin Saffari, Catherine Jordan, Siddharth Srivastava, Craig Blackstone, Darius Ebrahimi‐Fakhari +1 more

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis

Annals of Clinical and Translational Neurology(2022)10.1002/acn3.51531
N/A
0DataRank · unranked
7 citations

Afshin Saffari, Hellen Jumo, M. L. ZIEGLER, Oleksandr Strelko, Catherine A. Brownstein +6 more

Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies

Journal of Clinical Investigation(2023)10.1172/jci164575
N/A
0DataRank · unranked
44 citations

Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt +7 more

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

Neurobiology of Disease(2023)10.1016/j.nbd.2023.106386
N/A
0DataRank · unranked
20 citations

Nicole A. Teaney, Kellen D. Winden, Hellen Jumo, Xutong Shi, Gabrielle E. McGinty +10 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039
N/A
0DataRank · unranked
12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Transitional Care for Young People with Movement Disorders: Consensus‐Based Recommendations from the MDS Task Force on Pediatrics

Movement Disorders Clinical Practice(2023)10.1002/mdc3.13728
N/A
0DataRank · unranked
10 citations

Amit Batla, Ali Shalash, Jitendra Kumar Sahu, Carlos Cosentino, Darius Ebrahimi‐Fakhari +18 more

Deep brain stimulation for medically refractory status dystonicus in UBA5‐related disorder

Movement Disorders(2023)10.1002/mds.29428
N/A
0DataRank · unranked
7 citations

Nadine Straka, Anna Pinto, Rasha Srouji, Amy Tam, Uvaraj Periasamy +5 more

High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia

Research Square(2023)10.21203/rs.3.rs-3036166/v1
N/A
0DataRank · unranked
1 citations

Barbara Brechmann, Cedric Boeger, Wardiya Afshar Saber, Hellen Jumo, Dosh Whye +14 more

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations

Genetics in Medicine(2024)10.1016/j.gim.2024.101349
N/A
0DataRank · unranked
12 citations

Amy Tam, Silja Richter, Vicente Quiroz, Luca Schierbaum, Afshin Saffari +2 more

Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls

Stem Cell Research(2024)10.1016/j.scr.2024.103424
N/A
0DataRank · unranked
6 citations

Cidi Chen, Nicole A. Teaney, Kristina Kim, Ziqin Yang, Federico M. Gasparoli +6 more

Emerging therapies for childhood-onset movement disorders

Current Opinion in Pediatrics(2024)10.1097/mop.0000000000001354
N/A
0DataRank · unranked
6 citations

Vicente Quiroz, Darius Ebrahimi‐Fakhari, Lindsey M. Vogt

Juvenile‐onset Huntington's disease – Spectrum and evolution of presenting movement disorders

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52193
N/A
0DataRank · unranked
4 citations

Vicente Quiroz, Amy Tam, Rasha Srouji, X. Villanueva, Claudia Amarales +2 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

Expanding molecular and clinical spectrum of CPT1C‐associated hereditary spastic paraplegia (SPG73)—a case series

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52288
N/A
0DataRank · unranked
3 citations

Vicente Quiroz, Luca Schierbaum, Amy Tam, Julian E. Alecu, Darius Ebrahimi‐Fakhari +1 more

Spectrum and Evolution of Movement Disorder Phenomenology in a Pediatric Powassan Encephalitis Case Series

Movement Disorders Clinical Practice(2024)10.1002/mdc3.14245
N/A
0DataRank · unranked
1 citations

R. Bruce Lindsay, Vicente Quiroz, Rasha Srouji, Darius Ebrahimi‐Fakhari, Kathryn Yang

LXR agonist rescues synaptic dysfunction and degeneration in SPG3A patient-specific iPSC-derived neurons

Acta Neuropathologica Communications(2025)10.1186/s40478-025-02134-5
N/A
0DataRank · unranked
3 citations

Rutuja Dhanukate, Yongchao Mou, Priya Kunhiraman, Archana Khadilkar, Siddharth Srivastava +6 more

Clinical, neuroimaging and molecular spectrum of TECPR2 -associated hereditary sensory and autonomic neuropathy with intellectual disability

medRxiv(2020)10.1101/2020.10.10.20202622
N/A
0DataRank · unranked
0 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Fetal and Perinatal Brain MRI Findings in Adaptor Protein Complex 4–Associated Hereditary Spastic Paraplegia

Annals of the Child Neurology Society(2025)10.1002/cns3.70035
N/A
0DataRank · unranked
0 citations

Vicente Quiroz, Luca Schierbaum, Julian E. Alecu, Katerina Bernardi, Nicole Battaglia +6 more

Clinical, neuroimaging, and molecular spectrum of TECPR2 ‐associated hereditary sensory and autonomic neuropathy with intellectual disability

Human Mutation(2021)10.1002/humu.24206
N/A
0DataRank · unranked
31 citations

Barbara Brechmann, Gali Heimer, Ines Brösse, Susanna Schubert, Lauren O’Grady +45 more

Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia

Neurology Genetics(2021)10.1212/nxg.0000000000000605
N/A
0DataRank · unranked
8 citations

Gregory Geisel, Julian E. Alecu, Bo Zhang, Mustafa Sahin, Darius Ebrahimi‐Fakhari +1 more

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)

Stem Cell Research(2021)10.1016/j.scr.2021.102335
N/A
0DataRank · unranked
12 citations

Hellen Jumo, Angelica D’Amore, Julian E. Alecu, M. L. ZIEGLER, Wardiya Afshar Saber +3 more