Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mosaic dominantTUBB4Amutation in an inbred family with complicated hereditary spastic paraplegia

(2015) Dahlia Kancheva et al.   MOVEMENT DISORDERS

H 3 M 2 : detection of runs of homozygosity from whole-exome sequencing data

(2014) Alberto Magi et al.   BIOINFORMATICS

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48

(2014) Viviana Pensato et al.   BRAIN

Detection of Runs of Homozygosity from Whole Exome Sequencing Data: State of the Art and Perspectives for Clinical, Population and Epidemiological Studies

(2014) Tommaso Pippucci et al.   HUMAN HEREDITY

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

(2014) Magdalena Zimoń et al.   NEUROGENETICS

Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia

(2013) Elodie Martin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity

(2013) Monia B. Hammer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

HomSI: a homozygous stretch identifier from next-generation sequencing data

(2013) Zeliha Görmez et al.   BIOINFORMATICS

The application of next-generation sequencing in the autozygosity mapping of human recessive diseases

(2013) Fowzan S. Alkuraya   HUMAN GENETICS

Overlapping molecular pathological themes link Charcot–Marie–Tooth neuropathies and hereditary spastic paraplegias

(2012) Vincent Timmerman et al.   EXPERIMENTAL NEUROLOGY

Autozygosity Mapping with Exome Sequence Data

(2012) Ian M. Carr et al.   HUMAN MUTATION

Detecting false-positive signals in exome sequencing

(2012) Karin V. Fuentes Fajardo et al.   HUMAN MUTATION

Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia

(2012) Magdalena Zimoń et al.   NATURE GENETICS

HomozygosityMapper2012--bridging the gap between homozygosity mapping and deep sequencing

(2012) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Detecting Identity by Descent and Homozygosity Mapping in Whole-Exome Sequencing Data

(2012) Zhong Zhuang et al.   PLoS One

Detecting autozygosity through runs of homozygosity: A comparison of three autozygosity detection algorithms

(2011) Daniel P Howrigan et al.   BMC GENOMICS

EX-HOM (EXome HOMozygosity): A Proof of Principle

(2011) Tommaso Pippucci et al.   HUMAN HEREDITY

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing

(2011) Joke Reumers et al.   NATURE BIOTECHNOLOGY

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

(2010) A. McKenna et al.   GENOME RESEARCH

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

(2009) C. Goizet et al.   NEUROLOGY

A Systematic Approach to Mapping Recessive Disease Genes in Individuals from Outbred Populations

(2009) Friedhelm Hildebrandt et al.   PLoS Genetics

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27)

(2008) P A James et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

(2008) M. Auer-Grumbach et al.   NEUROPEDIATRICS