Colleen Muraresku

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

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 12 papers. Top paper: “Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans”.

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

Genetics in Medicine(2021)10.1016/j.gim.2021.09.014

N/A

0.449DataRank · unranked

19 citations

Irena Feng, Ana Rita Costa, Rita Pinto‐Costa, Jennifer E. Neil, Oana Caluseriu +21 more

Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy

Genetics in Medicine(2023)10.1016/j.gim.2023.100897

N/A

0.360DataRank · unranked

10 citations

Kelly Schoch, Rebecca Ganetzky, Peter G. Kranz, Neal Sondheimer, M. Louise Markert +92 more

Utility of genome sequencing in exome‐negative pediatric patients with neurodevelopmental phenotypes

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63817

N/A

0.269DataRank · unranked

5 citations

Eden Yitna Teferedegn, Dong Li, Kayla Muirhead, Holly Dubbs, Jacqueline Leonard +12 more

A kinetic model for compound heterozygous pathogenic variants in Tyrosyl-tRNA synthetase gene YARS2-Associated neonatal phenotype

Journal of Biological Chemistry(2024)10.1016/j.jbc.2024.108092

N/A

0.208DataRank · unranked

3 citations

Sunita Maharjan, Sitao Yin, Yuka Yamaki, Isao Masuda, Fenglin Li +5 more

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner Syndrome

Molecular Genetics and Metabolism(2021)10.1016/s1096-7192(21)00373-5

N/A

0.104DataRank · unranked

1 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Correction to: Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders

The Cerebellum(2022)10.1007/s12311-022-01370-y

N/A

0DataRank · unranked

0 citations

Sara Reis Teixeira, Cesar Alves, Fabrício Guimarães Gonçalves, Luis Octavio Tierradentro‐García, Martin Kidd +4 more

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

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Nature Communications(2025)10.1038/s41467-025-65556-8

N/A

0DataRank · unranked

3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 more

Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease

Clinics in Laboratory Medicine(2020)10.1016/j.cll.2020.02.002

N/A

0DataRank · unranked

14 citations

Elizabeth M. McCormick, Colleen Muraresku, Marni J. Falk, Xiaowu Gai, Li Shen

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62124

N/A

0DataRank · unranked

72 citations

Ian M. Campbell, Margaret Harr, Nina B. Gold, Dong Li, Hans T. Björnsson +95 more

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease

Molecular Genetics and Metabolism(2021)10.1016/j.ymgme.2021.12.006

N/A

0DataRank · unranked

29 citations

Jorune Balciuniene, Maria Alejandra Diaz‐Miranda, Elizabeth M. McCormick, Erfan Aref-Eshghi, Alison M. Muir +14 more

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

Journal of Inherited Metabolic Disease(2022)10.1002/jimd.12526

N/A

0DataRank · unranked

17 citations

Gaëlle Friocourt, Naïg Guéguen, Marisa W. Friederich, Gérald Le Gac, Volkan Okur +34 more