Janina Gburek‐Augustat

Klinik und Poliklinik für Kinder- und Jugendmedizin

Also affiliated with University Hospital Leipzig

NeuroscienceBiochemistry, 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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 4 papers. Top paper: “Genome Sequencing for Diagnosing Rare Diseases”.

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

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

Nature Communications(2024)10.1038/s41467-024-52095-x

N/A

0.345DataRank · unranked

9 citations

Daniel Woike, Daniel Greene, Sarada Das, Kevin Pfeifer, Weimin Yuan +53 more

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

Brain(2022)10.1093/brain/awac074

N/A

0DataRank · unranked

15 citations

J. Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg‐Didinger, Leila Motlagh Scholle +24 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