A QIL1 Variant Associated with Ventricular Arrhythmias and Sudden Cardiac Death in the Juvenile Rhodesian Ridgeback Dog

QIL1-dependent assembly of MICOS complex–lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation

(2018) J. Gödiker et al.   JOURNAL OF HUMAN GENETICS

Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit

(2016) Avraham Zeharia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Ventricular arrhythmias in Rhodesian Ridgebacks with a family history of sudden death and results of a pedigree analysis for potential inheritance patterns

(2016) Kathryn M. Meurs et al.   JAVMA-JOURNAL OF THE AMERICAN VETERINARY MEDICAL ASSOCIATION

Distinct Roles of Mic12 and Mic27 in the Mitochondrial Contact Site and Cristae Organizing System

(2016) Ralf M. Zerbes et al.   JOURNAL OF MOLECULAR BIOLOGY

Genotype imputation in the domestic dog

(2016) S. G. Friedenberg et al.   MAMMALIAN GENOME

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

(2016) Virginia Guarani et al.   eLife

QIL1 is a novel mitochondrial protein required for MICOS complex stability and cristae morphology

(2015) Virginia Guarani et al.   eLife

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Cardiac manifestations of primary mitochondrial disorders

(2014) Josef Finsterer et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS