Peter Bauer

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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

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 →

Papers

Driven by 26 papers. Top paper: “A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome”.

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

0.810DataRank · unranked

19 citations

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

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

N/A

0.568DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

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

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Nature Communications(2023)10.1038/s41467-023-39645-5

N/A

0.477DataRank · unranked

23 citations

Yijing Zhou, Qian Yang, Reza Maroofian, Paula Espana-Bonilla, Chul‐Hwan Lee +95 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

Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

EBioMedicine(2024)10.1016/j.ebiom.2024.105297

N/A

0.385DataRank · unranked

12 citations

Cesar Alves, Aisha M. Al Shamsi, Gehad ElGhazali, Maha S. Zaki, Lorenzo Pinelli +46 more

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

Brain(2023)10.1093/brain/awad039

N/A

0.385DataRank · unranked

12 citations

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

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.03.015

N/A

0.312DataRank · unranked

7 citations

Cailyn P Leo, Chenghong Deng, Sheng‐Jia Lin, Reza Maroofian, Reneé C. Lin +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

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

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

medRxiv(2024)10.1101/2024.01.09.23300329

N/A

0.104DataRank · unranked

1 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +67 more

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1

medRxiv(2024)10.1101/2024.02.20.24302827

N/A

0.104DataRank · unranked

1 citations

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

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251

N/A

0DataRank · unranked

4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 more

Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway

Brain(2025)10.1093/brain/awaf202

N/A

0DataRank · unranked

3 citations

Yuri Miyazaki, Daisuke Ishikawa, Hiroki Inahashi, Zuhair N. Al‐Hassnan, Giovanni Zifarelli +20 more

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS

Nature Communications(2025)10.1038/s41467-025-56876-w

N/A

0DataRank · unranked

2 citations

Maria Alba Abad, Sheraz Khan, Reza Maroofian, Tristan T. Sands, Farid Ullah +77 more

How many do we miss? - Evaluation of age at onset and family history as selection criteria for genetic testing in Parkinson’s disease

medRxiv(2025)10.1101/2025.11.15.25339249

N/A

0DataRank · unranked

0 citations

Eva‐Juliane Vollstedt, Ana Westenberger, Lara M. Lange, Joanne Trinh, Meike Kasten +12 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 BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics

Brain(2023)10.1093/brain/awad427

N/A

0DataRank · unranked

23 citations

Reza Maroofian, Adeline Paimboeuf, Mina Zamani, Maha S. Zaki, Saeid Sadeghian +18 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

Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies

Brain Communications(2023)10.1093/braincomms/fcad222

N/A

0DataRank · unranked

6 citations

Maha S. Zaki, Mohammed Al‐Owain, Mansour Y. Otaif, Adam Jackson, Emanuela Argilli +41 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

N/A

0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more

Loss of C2orf69 defines a fatal auto-inflammatory mitochondriopathy in Humans and Zebrafish

medRxiv(2021)10.1101/2021.03.31.21253863

N/A

0DataRank · unranked

0 citations

Sze Hwee Seet, Michael Maier, Ricardo Moreno Traspas, Cheryl Lee, Zhang Shan +42 more

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.05.003

N/A

0DataRank · unranked

23 citations

Sze Hwee Seet, Michael Maier, Ayşe Gürel, Ricardo Moreno Traspas, Cheryl Lee +67 more

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101278

N/A

0DataRank · unranked

8 citations

Reza Maroofian, Stuart J Cannon, Muhannad Daana, Mina Zamani, Shamsul Ghani +55 more