Marcella Attimonelli
4PUBLICATIONS
59CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (4)
Sort by Publication Date:
|Feb 18, 2022
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.Steven Laurie, Davide Piscia, Leslie Matalonga
|Sep 09, 2020
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.Elizabeth M McCormick, Marie T Lott, Matthew C Dulik
|Jul 23, 2020
Decreased Mitochondrial DNA Content Drives OXPHOS Dysregulation in Chromophobe Renal Cell Carcinoma.Yi Xiao, Rosanna Clima, Jonas Busch
|Dec 11, 2019
A data and text mining pipeline to annotate human mitochondrial variants with functional and clinical information.Ornella Vitale, Roberto Preste, Donato Palmisano
Pageof 1
Frequent Collaborators
1 joint publications
Roberto Preste
1 joint publications
Yi Xiao
1 joint publications
Anja Rabien
1 joint publications
Klaus Jung
1 joint publications
David Meierhofer
1 joint publications
Elizabeth M McCormick
1 joint publications
Marie T Lott
1 joint publications
Lishuang Shen
1 joint publications
Larry N Singh
1 joint publications
Vincent Procaccio
