Steffen Syrbe

Also affiliated with University Hospital Heidelberg, Heidelberg University

MedicineBiochemistry, 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 2%percentile

2.3Author 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 →

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

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327

Top 9%

2.3DataRank

Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

Papers

Driven by 19 papers — median percentile 91. Top paper: “The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications”.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

Brain(2022)10.1093/brain/awac210

N/A

3.6DataRank · unranked

161 citations

Tobias Brünger, Tony Feng, Carmen Fons, Anni Lehikoinen, Eleni Panagiotakaki +30 more

Assessing the landscape of STXBP1-related disorders in 534 individuals

Brain(2021)10.1093/brain/awab327

Top 9%

2.3DataRank

Top 9%125 citations

Shridhar Parthasarathy, Sarah M. Ruggiero, Ganna Balagura, Eryn Fitch, Katherine L. Helbig +48 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0.789DataRank · unranked

192 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions

Frontiers in Neurology(2021)10.3389/fneur.2021.600050

N/A

0.628DataRank · unranked

65 citations

Solomon O. Rotimi, Steffen Syrbe, Yvonne Ukamaka Ajamma, Ezekiel Adebiyi, Ibitayo Abigail Ademuwagun

Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series

EBioMedicine(2022)10.1016/j.ebiom.2022.104234

N/A

0.515DataRank · unranked

30 citations

Manuela Pendziwiat, Tatjana Bierhals, Himanshu Goel, Niklas Schwarz, Amelie van der Ven +8 more

Clinical Characterization and Long-Term Outcome in Children and Adults With Anti-AMPA Receptor Encephalitis

Neurology Neuroimmunology & Neuroinflammation(2025)10.1212/nxi.0000000000200453

N/A

0.330DataRank · unranked

8 citations

Ezgi Saylam, Claudia Papi, Laura Marmolejo, Alexandra Sankovic, Raphael Reinecke +50 more

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Genetics in Medicine(2024)10.1016/j.gim.2024.101087

N/A

0.330DataRank · unranked

8 citations

Gaëlle Friocourt, Florent Marguet, Maryline Lecointre, Morgane Le Mao, Rodrigo Muñoz Díaz +29 more

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369

N/A

0.269DataRank · unranked

5 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy

Stem Cell Research(2022)10.1016/j.scr.2022.102879

N/A

0.104DataRank · unranked

1 citations

Hanna Syring, Gudrun Göhring, Stefan Kölker, Thomas Opladen, Georg F. Hoffmann +3 more

Delineating clinical and developmental outcomes in STXBP1 -related disorders

medRxiv(2023)10.1101/2023.05.10.23289776

N/A

0DataRank · unranked

1 citations

Kim Marie Thalwitzer, Jillian L. McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch +14 more

Early life seizures and epileptic spasms in STXBP1 -related disorders

medRxiv(2023)10.1101/2023.06.26.23291892

N/A

0DataRank · unranked

1 citations

Julie Xian, Danielle deCampo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan +8 more

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly

Human Genetics(2023)10.1007/s00439-023-02528-2

N/A

0DataRank · unranked

6 citations

Elisabeth Schuler, Almundher Al‐Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al‐Kindi +10 more

Early life seizures and epileptic spasms in STXBP1‐related disorders

Epilepsia(2024)10.1111/epi.17886

N/A

0DataRank · unranked

18 citations

Julie Xian, Danielle de Campo, Shridhar Parthasarathy, Jan Magielski, Katie Rose Sullivan +8 more

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1

Neurology(2023)10.1212/wnl.0000000000207550

N/A

0DataRank · unranked

11 citations

Jan H. Driedger, Julie Xian, Afshin Saffari, Pia Zacher, Bigna K. Bölsterli +49 more

Exome sequencing in Nigerian children with early‐onset epilepsy syndromes

Epilepsia Open(2024)10.1002/epi4.13106

N/A

0DataRank · unranked

3 citations

Yagoub Adam, Solomon O. Rotimi, Steffen Syrbe, Maximilian Radtke, Julia Hentschel +3 more

Delineating clinical and developmental outcomes in STXBP1-related disorders

Brain(2023)10.1093/brain/awad287

N/A

0DataRank · unranked

42 citations

Kim Marie Thalwitzer, Jillian L. McKee, Katie Rose Sullivan, Elise Brimble, Eryn Fitch +14 more

GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy

Molecular Psychiatry(2025)10.1038/s41380-025-03279-4

N/A

0DataRank · unranked

7 citations

Andrea Eoli, Ilona Krey, Bernt Popp, Vincent Strehlow, Dirk Alexander Wittekind +27 more

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita

Research Square(2022)10.21203/rs.3.rs-2121654/v1

N/A

0DataRank · unranked

0 citations

Elisabeth Schuler, Almundher Al‐Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al‐Kindi +10 more

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy

Brain(2021)10.1093/brain/awab391

N/A

0DataRank · unranked

74 citations

Vivian W. Y. Liao, Elena Gardella, Katrine M. Johannesen, Ilona Krey, Kaja Kristine Selmer +17 more

Steffen Syrbe

Indexed papers

Top data-sharing exemplar

Papers