Johannes A. Mayr

Also affiliated with Salzburger Landeskliniken

Biochemistry, 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

1in 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 1 indexed paper 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 15 papers. Top paper: “Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy”.

Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

Journal of Clinical Investigation(2021)10.1172/jci138267

N/A

0.756DataRank · unranked

153 citations

Natalia L. Sheremet, Claudia B. Catarino, Natalia A. Andreeva, Zahra Assouline, Piero Barboni +49 more

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

0.604DataRank · unranked

55 citations

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

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

Genome Medicine(2021)10.1186/s13073-021-00873-3

N/A

0.524DataRank · unranked

32 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Shlomit Ezer, Sukyeong Lee +15 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

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

medRxiv(2021)10.1101/2021.04.01.21254633

N/A

0DataRank · unranked

33 citations

Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston +48 more

Serine Catabolism Feeds NADH when Respiration Is Impaired

Cell Metabolism(2020)10.1016/j.cmet.2020.02.017

N/A

0DataRank · unranked

215 citations

Juan Carlos García‐Cañaveras, Zihong Chen, Lin Wang, Lingfan Liang, Cholsoon Jang +12 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

The phenotypic spectrum of PTCD3 deficiency

JIMD Reports(2024)10.1002/jmd2.12424

N/A

0DataRank · unranked

0 citations

Eissa Faqeih, Namik Kaya, Zita Krūmiņa, Johannes A. Mayr, Ieva Mičule +8 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

Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.05.318519

N/A

0DataRank · unranked

2 citations

Yohan Park, Saskia B. Wortmann, Adam C. Gunning, Suk‐young Lee, Lita Duraine +13 more

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype

Genetics in Medicine(2021)10.1016/j.gim.2021.09.005

N/A

0DataRank · unranked

25 citations

Frédéric Ebstein, Anna Hurst, Marie Vincent, Ingrid Bader, Natasha L. Rudy +46 more