Daniela Buhaş

Also affiliated with McGill University Health Centre, McGill Genome Centre, McGill University

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 4 papers. Top paper: “Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder”.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

Brain(2020)10.1093/brain/awaa204

N/A

0DataRank · unranked

59 citations

Fanny Kortüm, Georg Christoph Korenke, Malik Alawi, René Santer, Mathias Woidy +95 more

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Genetics in Medicine(2022)10.1016/j.gim.2022.11.001

N/A

0DataRank · unranked

30 citations

Madison Chilian, Ehsan Ghayoor Karimiani, Helga Progri, Daniela Buhaş, Melis Köse +17 more

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Genetics in Medicine(2022)10.1016/j.gim.2022.09.010

N/A

0DataRank · unranked

39 citations

Reza Maroofian, Toru Sengoku, Tadahiro Mitani, Alistair T. Pagnamenta, Dana Marafi +82 more

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.02.005

N/A

0DataRank · unranked

27 citations

José E. Abdenur, Ashley Andrews, Verena G. Aziz, Levinus A. Bok, Monica Boyer +13 more