Elizabeth M McCormick (E M McCormick, E McCormick)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 9

Top Topics

Hypertrophic Cardiomyopathy

Prognostic Factors

Top Venues

Neurology. Clinical practice

AJNR. American journal of neuroradiology

This page only lists publications with an associated author ORCID identifier.

Publications

Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon H Hakonarson, Sandra Mercier, Marni J Falk
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report. Neurology. Clinical practice 14 (3) (2024)
Pierre-Louis Lanvin, Dong Li, Solène Conrad, Armelle Magot, Xavier Micaelli, Yann Péréon, Marie Vincent, Bertrand Isidor, Damien Sternberg, Elizabeth M McCormick, Hakon H Hakonarson, Sandra Mercier, Marni J Falk
Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene: A Clinical Report. Neurology. Clinical practice 14 (3) (2024)
Elizabeth M McCormick, Kierstin Keller, Julie P Taylor, Alison J Coffey, Lishuang Shen, Danuta Krotoski, Brian Harding, null null, César Augusto Pinheiro Ferreira Alves, Anna Ardissone, Renkui Bai, Isabella Peixoto de Barcelos, Enrico Bertini, Krista Bluske, John Christodoulou, Amanda R Clause, William C Copeland, George A Diaz, Nazzareno Diodato, Matthew C Dulik, Greg Enns, Annette Feigenbaum, Carl Fratter, Daniele Ghezzi, Amy Goldstein, Andrea Gropman, Richard Haas, Amel Karaa, Mary Kay Koenig, Berrin Monteleone, Sumit Parikh, Belen Perez Duenas, Revathi Rajkumar, Ann Saada, Russell P Saneto, Kate Sergeant, John Shoffner, Conrad Smith, Christine Stanley, Isabelle Thiffault, David Thorburn, Melissa Walker, Douglas Wallace, Lee-Jun Wong, Xiaowu Gai, Marni J Falk, Zarazuela Zolkipli-Cunningham, Shamima Rahman
Expert panel curation of 113 primary mitochondrial disease genes for the Leigh syndrome spectrum. Annals of neurology (2023)
Kathleen D Valverde, Elizabeth M McCormick, Marni J Falk
Qualitative exploration of the lived experience of adults diagnosed with primary mitochondrial disease. JIMD reports 63 (5) (2022)
Elizabeth M McCormick, Marie T Lott, Matthew C Dulik, Lishuang Shen, Marcella Attimonelli, Ornella Vitale, Amel Karaa, Renkui Bai, Daniel E Pineda-Alvarez, Larry N Singh, Christine M Stanley, Stacey Wong, Anshu Bhardwaj, Daria Merkurjev, Rong Mao, Neal Sondheimer, Shiping Zhang, Vincent Procaccio, Douglas C Wallace, Xiaowu Gai, Marni J Falk
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation. Human mutation 41 (12) (2020)
César Augusto Pinheiro Ferreira Alves, A C Goldstein, Sara Reis Teixeira, Juan Sebastian Martin Saavedra, Isabella Peixoto de Barcelos, Giulia Fadda, Luca Caschera, Martin Kidd, Fabricio Guimarães Gonçalves, Elizabeth M McCormick, Marni J Falk, Zarazuela Zolkipli-Cunningham, Arastoo Vossough, Giulio Zuccoli
Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children. AJNR. American journal of neuroradiology 42 (2) (2020)
Fabricio Guimarães Gonçalves, B J Hill, Y Guo, Colleen C Muraresku, Elizabeth M McCormick, César Augusto Pinheiro Ferreira Alves, Sara Reis Teixeira, Juan Sebastian Martin Saavedra, Zarazuela Zolkipli-Cunningham, Marni J Falk, Arastoo Vossough, A C Goldstein, Giulio Zuccoli
The Perirolandic Sign: A Unique Imaging Finding Observed in Association with Polymerase γ-Related Disorders. AJNR. American journal of neuroradiology 41 (5) (2020)
Rebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Amy C Goldstein, Thomas Klopstock, Marni J Falk
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases. Human mutation 40 (5) (2019)
Margaret A Gustafson, Elizabeth M McCormick, Lalith Perera, Matthew J Longley, Renkui Bai, Jianping Kong, Matthew Dulik, Lishuang Shen, Amy C Goldstein, Shana E McCormack, Benjamin L Laskin, Bart P Leroy, Xilma R Ortiz-González, Meredith G Ellington, William C Copeland, Marni J Falk
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes. PloS one 14 (9) (2019)