Missense variants in the middle domain ofDNM1Lin cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed inDrosophila

Lethal Disorder of Mitochondrial Fission Caused by Mutations in DNM1L

(2016) Grace Yoon et al.   JOURNAL OF PEDIATRICS

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

(2015) Jason R Vanstone et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Drosophila and experimental neurology in the post-genomic era

(2015) Joshua M. Shulman   EXPERIMENTAL NEUROLOGY

Fruit Flies in Biomedical Research

(2015) M. F. Wangler et al.   GENETICS

Peroxisome-mitochondria interplay and disease

(2015) Michael Schrader et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency

(2014) Daniel S Lieber et al.   BMC Medical Genetics

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

(2014) Shinya Yamamoto et al.   CELL

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

(2014) Robert W. Taylor et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Peroxisomes Are Required for Lipid Metabolism and Muscle Function in Drosophila melanogaster

(2014) Joseph E. Faust et al.   PLoS One

Quantitative analysis of mammalian GIRK2 channel regulation by G proteins, the signaling lipid PIP2 and Na+ in a reconstituted system

(2014) Weiwei Wang et al.   eLife

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

(2013) Penelope E. Bonnen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Unsolved issues related to human mitochondrial diseases

(2013) Anne Lombès et al.   BIOCHIMIE

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy

(2013) James R Lupski et al.   Genome Medicine

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

MRI Features of 4 Female Patients With Pyruvate Dehydrogenase E1 alpha Deficiency

(2011) Nicholas Ah Mew et al.   PEDIATRIC NEUROLOGY

A Lethalde NovoMutation in the Middle Domain of the Dynamin-related GTPase Drp1 Impairs Higher Order Assembly and Mitochondrial Division

(2010) Chuang-Rung Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial DNA mutations and human disease

(2009) Helen A.L. Tuppen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice

(2009) Naotada Ishihara et al.   NATURE CELL BIOLOGY

Versatile P[acman] BAC libraries for transgenesis studies in Drosophila melanogaster

(2009) Koen J T Venken et al.   NATURE METHODS

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007

(2008) C Sue Richards et al.   GENETICS IN MEDICINE

Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation

(2008) E. Gallardo et al.   JOURNAL OF NEUROLOGY