Heiko Reutter

Friedrich-Alexander-Universität Erlangen-Nürnberg

Also affiliated with Universitätsklinikum Erlangen, Klinik und Poliklinik für Kinder- und Jugendmedizin

Medicine

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 6 papers. Top paper: “Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients”.

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207

N/A

0DataRank · unranked

99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Brain(2020)10.1093/brain/awaa063

N/A

0DataRank · unranked

81 citations

Andrew C. Edmondson, Sumeet A. Khetarpal, Viola Alesi, Maha S. Zaki, Kevin Rostásy +27 more

X-linked variations in SHROOM4 are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems

Journal of Medical Genetics(2022)10.1136/jmg-2022-108738

N/A

0DataRank · unranked

7 citations

Tim Felger, Luca Schierbaum, Isabelle Thiffault, Tomi Pastinen, Maria Szczepańska +18 more

Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.08.024

N/A

0DataRank · unranked

14 citations

Carrie L. Welch, Rebecca Hernan, Julia Wynn, Usha Krishnan, Jill M. Zalieckas +46 more

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

npj Genomic Medicine(2024)10.1038/s41525-024-00398-9

N/A

0DataRank · unranked

3 citations

Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes +66 more

TFAP2E is implicated in central nervous system, orofacial and maxillofacial anomalies

Journal of Medical Genetics(2024)10.1136/jmg-2023-109799

N/A

0DataRank · unranked

2 citations

Enrico Mingardo, Jil D. Stegmann, Ramgopal Dhakar, Tikam Chand Dakal, Jill A. Rosenfeld +34 more