René G. Feichtinger

Also affiliated with Salzburger Landeskliniken

Biochemistry, Genetics and Molecular BiologyMedicine

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 8 papers. Top paper: “Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia”.

Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.015

N/A

0DataRank · unranked

55 citations

Mona Grimmel, Matias Wagner, J. Christopher Hennings, Christian Marx, René G. Feichtinger +41 more

Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

Annals of Neurology(2021)10.1002/ana.26127

N/A

0DataRank · unranked

7 citations

Melanie T. Achleitner, Dietrich Trümbach, Laurence Hubert, Arnold Münnich, Barbara Ahlemeyer +26 more

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

medRxiv(2021)10.1101/2021.12.07.21266342

N/A

0DataRank · unranked

3 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +67 more

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genetics in Medicine(2022)10.1016/j.gim.2022.09.015

N/A

0DataRank · unranked

17 citations

Yael Mozer‐Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger +56 more

Biallelic Cys141Tyr variant of SEL1L is associated with neurodevelopmental disorders, agammaglobulinemia, and premature death

Journal of Clinical Investigation(2023)10.1172/jci170882

N/A

0DataRank · unranked

31 citations

Liangguang Leo Lin, Huilun Wang, Zexin Jason Li, Katarína Kušíková, Peter Čižnár +14 more

PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production

Science Translational Medicine(2023)10.1126/scitranslmed.abo3189

N/A

0DataRank · unranked

36 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +69 more

Loss‐of‐Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

Annals of Neurology(2024)10.1002/ana.27077

N/A

0DataRank · unranked

10 citations

Frédéric Ebstein, Tzung‐Chien Hsieh, Marialetizia Motta, Francesca Clementina Radio, Johanna C. Herkert +74 more

Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability

Journal of Medical Genetics(2024)10.1136/jmg-2023-109728

N/A

0DataRank · unranked

5 citations

Virginie Laugel-Haushalter, Ummey Hany, Sunayna Best, Rachel L. Taylor, James A. Poulter +13 more