Christian Beetz

Also affiliated with Parkinson's Foundation

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 100%percentile

0Author DataRank

Indexed papers

3in 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 3 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 →

Papers

Driven by 23 papers. Top paper: “A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features”.

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

Genetics in Medicine(2021)10.1038/s41436-021-01097-x

N/A

0.510DataRank · unranked

29 citations

Rachel Straussberg, Hind Ahmed, Amjad Khan, Songhai Tian, R. Sean Hill +28 more

Do Not Trust the Pedigree: Reduced and Sex-Dependent Penetrance at a Novel Mutation Hotspot in ATL1 Blurs Autosomal Dominant Inheritance of Spastic Paraplegia

Human Mutation(2013)10.1002/humu.22309

N/A

0.489DataRank · unranked

25 citations

Rebecca Schüle, Hicham Fadel, Irene Valenzuela, Fiorella Speziani, Michael Gonzalez +11 more

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

Nature Structural & Molecular Biology(2024)10.1038/s41594-024-01423-2

N/A

0.425DataRank · unranked

16 citations

Peter Wild Crea, Daniel M. Ramos, Emil K. Gustavsson, Mandy Radefeldt, Andrey Damianov +36 more

Suleiman-El-Hattab syndrome: a histone modification disorder caused by TASP1 deficiency

Human Molecular Genetics(2022)10.1093/hmg/ddac098

N/A

0.345DataRank · unranked

9 citations

Anna Lena Burgemeister, Vincent Cantagrel, Jeanne Amiel, Karine Siquier-Pernet, Nathalie Boddaert +16 more

Plasma Glucosylceramide Levels Are Regulated by ATP10D and Are Not Involved in Parkinson's Disease Pathogenesis

Annals of Neurology(2025)10.1002/ana.27219

N/A

0.269DataRank · unranked

5 citations

Alva James, Christian Beetz, Robert Schwieger, Gal Barrel, Krishna Kumar Kandaswamy +9 more

The LRRK2 p.L1795F variant causes Parkinson’s disease in the European population

npj Parkinson s Disease(2025)10.1038/s41531-025-00896-2

N/A

0.241DataRank · unranked

4 citations

Kristin Levine, Susan H. Fox, Connie Marras, Nazish Ahmed, Nicole Kuznetsov +95 more

Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions

Movement Disorders(2023)10.1002/mds.29323

N/A

0.241DataRank · unranked

4 citations

Adriana Ruiz‐Herrera, Sevcan Bozdoğan, Atil Bisgin, Mohammed Almuqbil, Amal Alhashem +9 more

PPM1M, an LRRK2-counteracting, phosphoRab12-preferring phosphatase with a potential link to Parkinson’s disease

Cell Reports(2025)10.1016/j.celrep.2025.116031

N/A

0.208DataRank · unranked

3 citations

Neringa Pratuseviciute, Yu‐En Lin, Ayan Adhikari, Wondwossen M Yeshaw, Chloe Flitton +19 more

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

medRxiv(2024)10.1101/2024.08.19.24312079

N/A

0.165DataRank · unranked

2 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +35 more

PPM1M, a LRRK2-counteracting, phosphoRab12-preferring phosphatase with potential link to Parkinson’s disease

10.1101/2025.03.19.644182

N/A

0.165DataRank · unranked

2 citations

Neringa Pratuseviciute, Yu‐En Lin, Ayan Adhikari, Wondwossen M Yeshaw, Chloe Flitton +18 more

RAB32 -linked Parkinson’s disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteria

medRxiv(2025)10.1101/2025.06.03.25328628

N/A

0.104DataRank · unranked

1 citations

Francesco Cavallieri, Max Borsche, Giulia Toschi, Franco Valzania, Valentina Fioravanti +22 more

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

Brain(2024)10.1093/brain/awae363

N/A

0.104DataRank · unranked

1 citations

Elisa Calì, Reza Maroofian, Maha S. Zaki, Alistair T. Pagnamenta, Zafar Ali +51 more

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.007

N/A

0DataRank · unranked

7 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +34 more

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome

European Journal of Human Genetics(2020)10.1038/s41431-020-00717-5

N/A

0DataRank · unranked

18 citations

Marcello Scala, Christian Beetz, Guy Helman, Valentina Stanley, Xiaoxu Yang +42 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

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.29.222828

N/A

0DataRank · unranked

3 citations

Neda Mazaheri, Sheng‐Jia Lin, Lucy A Dunbar, Reza Maroofian, Héla Azaiez +19 more

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Human Genetics(2021)10.1007/s00439-020-02254-z

N/A

0DataRank · unranked

28 citations

Neda Mazaheri, Sheng‐Jia Lin, Lucy A Dunbar, Reza Maroofian, Héla Azaiez +21 more

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

Brain(2023)10.1093/brain/awad380

N/A

0DataRank · unranked

19 citations

Abolfazl Rad, Sheng‐Jia Lin, Aida M. Bertoli‐Avella, Wouter W. Kallemeijn, Annie Godwin +84 more

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease

Brain(2023)10.1093/brain/awad434

N/A

0DataRank · unranked

8 citations

Xinfu Jiao, J. Christopher Hennings, Jan Giesecke, Geeta Palsule, Stefanie Beck‐Wödl +35 more

The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants

Science(2024)10.1126/science.adh4059

N/A

0DataRank · unranked

38 citations

Ottavia M. Delmonte, Marita Bosticardo, Mana Momenilandi, Peyton Conrey, Bénédicte Charmeteau-De Muylder +93 more

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

medRxiv(2024)10.1101/2024.02.20.24302827

N/A

0DataRank · unranked

1 citations

Peter Wild Crea, Daniel M. Ramos, Emil K. Gustavsson, Mandy Radefeldt, Mary B. Makarious +33 more

RAB32 ‐Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria

Movement Disorders(2025)10.1002/mds.70037

N/A

0DataRank · unranked

5 citations

Francesco Cavallieri, Max Borsche, Giulia Toschi, Franco Valzania, Valentina Fioravanti +23 more