Elizabeth M. McCormick

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: “Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation”.

Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation

Human Mutation(2020)10.1002/humu.24107

N/A

0DataRank · unranked

190 citations

Marie T. Lott, Matthew C. Dulik, Li Shen, Marcella Attimonelli, Ornella Vitale +16 more

Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children

American Journal of Neuroradiology(2020)10.3174/ajnr.a6910

N/A

0DataRank · unranked

14 citations

Amy Goldstein, Sara Reis Teixeira, Juan Sebastián Martín-Saavedra, Isabella Peixoto de Barcelos, Giulia Fadda +9 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

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

0DataRank · unranked

1 citations

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

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum

Annals of Neurology(2023)10.1002/ana.26716

N/A

0DataRank · unranked

61 citations

Kierstin Keller, Julie P. Taylor, Alison J. Coffey, Li Shen, Danuta Krotoski +7 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Multiple independent gene disorders causing Bardet--Biedl syndrome, congenital hypothyroidism, and hearing loss in a single Indian consanguineous patient

(2023)10.22541/au.167722036.60770586/v1

N/A

0DataRank · unranked

0 citations

Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa M. Elden, Thomas Aleman +4 more

Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient

Brain Sciences(2023)10.3390/brainsci13081210

N/A

0DataRank · unranked

0 citations

Dong Li, Deborah Watson, Elizabeth M. McCormick, Lisa M. Elden, T. S. Aleman +4 more

MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic data

JAMIA Open(2024)10.1093/jamiaopen/ooae134

N/A

0DataRank · unranked

4 citations

Laura E. MacMullen, Asif Chinwalla, Deanne Taylor, Rebecca Ganetzky, K. Stanley +4 more

MMFP-Tableau: Enabling Precision Mitochondrial Medicine through Integration, Visualization, and Analytics of Clinical and Research Health System Electronic Data

medRxiv(2024)10.1101/2024.01.03.24300791

N/A

0DataRank · unranked

1 citations

Laura E. MacMullen, Asif Chinwalla, Deanne Taylor, Rebecca Ganetzky, K. Stanley +4 more