Andrea H. Németh

Also affiliated with Nuffield Orthopaedic Centre, University of Oxford, Oxford BioMedica (United Kingdom), Oxford University Hospitals NHS Trust

NeuroscienceBiochemistry, 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 7 papers. Top paper: “An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy”.

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

Early‐Onset Parkinsonism Is a Manifestation of the PPP2R5D p.E200K Mutation

Annals of Neurology(2020)10.1002/ana.25863

N/A

0DataRank · unranked

54 citations

Thomas Wirth, Cécile Hubsch, Andrea H. Németh, Volkan Okur, Mathieu Anheim +11 more

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder

Nature Communications(2021)10.1038/s41467-021-22627-w

N/A

0DataRank · unranked

52 citations

Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee +65 more

Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

Brain Communications(2021)10.1093/braincomms/fcab245

N/A

0DataRank · unranked

32 citations

Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson +53 more

Biallelic and de novo variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy

medRxiv(2021)10.1101/2021.06.01.21257500

N/A

0DataRank · unranked

0 citations

Mitra Forouhan, Maria Lieto, Ambre J. Sala, Ruth Ellerington, Janel O. Johnson +21 more

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants

Neurology(2023)10.1212/wnl.0000000000207241

N/A

0DataRank · unranked

3 citations

Federica Rachele Danti, Mohamed Abunada, Benjamin Kamien, Sony Malhotra, Maya Topf +11 more

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.007

N/A

0DataRank · unranked

18 citations

Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae‐Ik Choi, Carolyn A Allan +51 more