Irina Zaharieva

Also affiliated with University College London

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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 8 papers. Top paper: “The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases”.

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Human Mutation(2022)10.1002/humu.24353

N/A

1.3DataRank · unranked

63 citations

Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo +46 more

Investigating the Contribution of Common Genetic Variants to the Risk and Pathogenesis of ADHD

American Journal of Psychiatry(2012)10.1176/appi.ajp.2011.11040551

N/A

0.790DataRank · unranked

193 citations

Marian Hamshere, Peter Holmans, Kate Langley, Irina Zaharieva, Ziarah Hawi +7 more

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

Nature Communications(2022)10.1038/s41467-022-30015-1

N/A

0.571DataRank · unranked

44 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin O’Donovan, Maura Coughlin +53 more

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes

Journal of Clinical Investigation(2024)10.1172/jci179559

N/A

0.449DataRank · unranked

19 citations

Rotem Orbach, Irina Zaharieva, Ana Töpf, Sandra Donkervoort, Pinki Munot +20 more

Digenic Inheritance Involving a Muscle Specific Protein Kinase and the Giant Titin Protein Causes a Skeletal Muscle Myopathy

SSRN Electronic Journal(2021)10.2139/ssrn.3801723

N/A

0DataRank · unranked

2 citations

Irina Zaharieva, Valeria Di Leo, Anna Vihola, Neha Wali, Marco Savarese +60 more

TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy

European Journal of Human Genetics(2020)10.1038/s41431-019-0563-6

N/A

0DataRank · unranked

41 citations

Pietro Spitali, Irina Zaharieva, Stefan Böhringer, Monika Hiller, Amina Chaouch +19 more

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

Nature Genetics(2024)10.1038/s41588-023-01651-0

N/A

0DataRank · unranked

33 citations

Dan Cox, Irina Zaharieva, Valeria Di Leo, J. Sarparanta, Per Harald Jonson +80 more

Specific heterozygous frameshift variants in hnRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy

medRxiv(2021)10.1101/2021.04.08.21254942

N/A

0DataRank · unranked

2 citations

Payam Mohassel, Sandra Donkervoort, Lin Guo, Kevin J. O’Donovan, Maura Coughlin +53 more