Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

The FSHD2 Gene SMCHD1 Is a Modifier of Disease Severity in Families Affected by FSHD1

(2013) Sabrina Sacconi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epigenetic Functions of Smchd1 Repress Gene Clusters on the Inactive X Chromosome and on Autosomes

(2013) Anne-Valerie Gendrel et al.   MOLECULAR AND CELLULAR BIOLOGY

A focal domain of extreme demethylation within D4Z4 in FSHD2

(2013) L. M. Hartweck et al.   NEUROLOGY

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

(2013) Satomi Mitsuhashi et al.   NEUROMUSCULAR DISORDERS

High throughput HLA genotyping using 454 sequencing and the Fluidigm Access Array™ system for simplified amplicon library preparation

(2013) P. V. Moonsamy et al.   TISSUE ANTIGENS

Smchd1 regulates a subset of autosomal genes subject to monoallelic expression in addition to being critical for X inactivation

(2013) Arne W Mould et al.   Epigenetics & Chromatin

Facioscapulohumeral muscular dystrophy: new insights from compound heterozygotes and implication for prenatal genetic counselling

(2012) Isabella Scionti et al.   JOURNAL OF MEDICAL GENETICS

RNA Interference Inhibits DUX4-induced Muscle Toxicity In Vivo: Implications for a Targeted FSHD Therapy

(2012) Lindsay M Wallace et al.   MOLECULAR THERAPY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

(2012) Richard J L F Lemmers et al.   NATURE GENETICS

Facioscapulohumeral muscular dystrophy

(2011) Jeffrey M. Statland et al.   CURRENT OPINION IN NEUROLOGY

Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands

(2011) Richard J.L.F. Lemmers et al.   NEUROMUSCULAR DISORDERS

FSHD: copy number variations on the theme of muscular dystrophy

(2010) Daphne Selvaggia Cabianca et al.   JOURNAL OF CELL BIOLOGY

FSH dystrophy and a subtelomeric 4q haplotype: a new assay and associations with disease

(2010) K. Tsumagari et al.   JOURNAL OF MEDICAL GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Clinical features of facioscapulohumeral muscular dystrophy 2

(2010) J. C. de Greef et al.   NEUROLOGY

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

(2010) R. J. L. F. Lemmers et al.   SCIENCE

Facioscapulohumeral Dystrophy: Incomplete Suppression of a Retrotransposed Gene

(2010) Lauren Snider et al.   PLoS Genetics

Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample

(2009) ML Mostacciuolo et al.   CLINICAL GENETICS

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity-application to four genes:FBN1,FBN2,TGFBR1, andTGFBR2

(2009) Mélissa Yana Frédéric et al.   HUMAN MUTATION

Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD

(2009) Jessica C. de Greef et al.   HUMAN MUTATION

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

SmcHD1, containing a structural-maintenance-of-chromosomes hinge domain, has a critical role in X inactivation

(2008) Marnie E Blewitt et al.   NATURE GENETICS

Facioscapulohumeral Dystrophy

(2007) Shree Pandya et al.   PHYSICAL THERAPY