De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

Mutations in TOMM70 lead to multi-OXPHOS deficiencies and cause severe anemia, lactic acidosis, and developmental delay

(2020) Xiujuan Wei et al.   JOURNAL OF HUMAN GENETICS

Genome sequencing in persistently unsolved white matter disorders

(2020) Guy Helman et al.   Annals of Clinical and Translational Neurology

Mitochondrial proteins: from biogenesis to functional networks

(2019) Nikolaus Pfanner et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Disease-Associated Genetic Variation in Human Mitochondrial Protein Import

(2019) Emmanuelle Nicolas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases

(2019) Hugo J Bellen et al.   HUMAN MOLECULAR GENETICS

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia

(2019) Oguz Kanca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TOM40 Targets Atg2 to Mitochondria-Associated ER Membranes for Phagophore Expansion

(2019) Zhenyuan Tang et al.   Cell Reports

Mitochondria—hubs for regulating cellular biochemistry: emerging concepts and networks

(2019) Alexander J. Anderson et al.   Open Biology

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

(2019) Hui Guo et al.   Nature Communications

An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms

(2019) Oguz Kanca et al.   eLife

Biallelic Mutations in ATP5F1D , which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

(2018) Monika Oláhová et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TOM70 Sustains Cell Bioenergetics by Promoting IP3R3-Mediated ER to Mitochondria Ca 2+ Transfer

(2018) Riccardo Filadi et al.   CURRENT BIOLOGY

Genetic strategies to tackle neurological diseases in fruit flies

(2018) Mümine Şentürk et al.   CURRENT OPINION IN NEUROBIOLOGY

Mitochondrial protein transport in health and disease

(2018) Yilin Kang et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

A gene-specific T2A-GAL4 library for Drosophila

(2018) Pei-Tseng Lee et al.   eLife

IRF2BPL Is Associated with Neurological Phenotypes

(2018) Paul C. Marcogliese et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

(2018) Muhammad Ansar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pathways to balance mitochondrial translation and protein import

(2018) Chantal Priesnitz et al.   GENES & DEVELOPMENT

Mitochondrial energy generation disorders: genes, mechanisms and clues to pathology

(2017) Ann E. Frazier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Etiology of Human Genetic Disease on the Fly

(2017) Clement Y. Chow et al.   TRENDS IN GENETICS

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole exome sequencing in patients with white matter abnormalities

(2016) Adeline Vanderver et al.   ANNALS OF NEUROLOGY

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

The Human Bcl-2 Family Member Bcl-rambo Localizes to Mitochondria and Induces Apoptosis and Morphological Aberrations in Drosophila

(2016) Mako Nakazawa et al.   PLoS One

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Peeping at TOMs—Diverse Entry Gates to Mitochondria Provide Insights into the Evolution of Eukaryotes

(2015) Jan Mani et al.   MOLECULAR BIOLOGY AND EVOLUTION

The Protein Import Machinery of Mitochondria—A Regulatory Hub in Metabolism, Stress, and Disease

(2014) Angelika B. Harbauer et al.   Cell Metabolism

Mitochondrial protein translocases for survival and wellbeing

(2014) Anna Magdalena Sokol et al.   FEBS LETTERS

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

(2014) Sumit Parikh et al.   GENETICS IN MEDICINE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Optimized CRISPR/Cas tools for efficient germline and somatic genome engineering in Drosophila

(2014) F. Port et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A versatile platform for creating a comprehensive UAS-ORFeome library in Drosophila

(2013) J. Bischof et al.   DEVELOPMENT

Genome Engineering of Drosophila with the CRISPR RNA-Guided Cas9 Nuclease

(2013) Scott J. Gratz et al.   GENETICS

The Genotype-Tissue Expression (GTEx) project

(2013) John Lonsdale et al.   NATURE GENETICS

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Structural and Functional Discussion of the Tetra-Trico-Peptide Repeat, a Protein Interaction Module

(2012) Natalie Zeytuni et al.   STRUCTURE

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

(2012) Vafa Bayat et al.   PLOS BIOLOGY

An integrative approach to ortholog prediction for disease-focused and other functional studies

(2011) Yanhui Hu et al.   BMC BIOINFORMATICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mitochondrial protein import: from proteomics to functional mechanisms

(2010) Oliver Schmidt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Global Analysis of the Mitochondrial N-Proteome Identifies a Processing Peptidase Critical for Protein Stability

(2009) F.-Nora Vögtle et al.   CELL

Importing Mitochondrial Proteins: Machineries and Mechanisms

(2009) Agnieszka Chacinska et al.   CELL

G-TRACE: rapid Gal4-based cell lineage analysis in Drosophila

(2009) Cory J Evans et al.   NATURE METHODS