Segregation between SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy: a case report

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution

(2016) David Salgado et al.   HUMAN MUTATION

A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes

(2016) Giulia Ricci et al.   JOURNAL OF NEUROLOGY

Correlation between low FAT1 expression and early affected muscle in facioscapulohumeral muscular dystrophy

(2015) Virginie Mariot et al.   ANNALS OF NEUROLOGY

Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2

(2015) Marlinde L van den Boogaard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

SORBS2transcription is activated by telomere position effect–over long distance upon telomere shortening in muscle cells from patients with facioscapulohumeral dystrophy

(2015) Jérôme D. Robin et al.   GENOME RESEARCH

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy: Figure 1.

(2015) Jane E. Hewitt   HUMAN MOLECULAR GENETICS

Identification of Variants in the 4q35 GeneFAT1in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

(2015) Francesca Puppo et al.   HUMAN MUTATION

Hemizygosity forSMCHD1in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome

(2015) Richard J. L. F. Lemmers et al.   HUMAN MUTATION

Identification and Characterization of Small Molecules That Inhibit Nonsense-Mediated RNA Decay and Suppress Nonsense p53 Mutations

(2014) L. Martin et al.   CANCER RESEARCH

Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy

(2014) Jincy Winston et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2014) Mirjam Larsen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Direct interplay between two candidate genes in FSHD muscular dystrophy

(2014) Giulia Ferri et al.   HUMAN MOLECULAR GENETICS

Differential DNA methylation of the D4Z4 repeat in patients with FSHD and asymptomatic carriers

(2014) M.-C. Gaillard et al.   NEUROLOGY

Population-based incidence and prevalence of facioscapulohumeral dystrophy

(2014) J. C. W. Deenen et al.   NEUROLOGY

Facioscapulohumeral dystrophy: the path to consensus on pathophysiology

(2014) Rabi Tawil et al.   Skeletal Muscle

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

DUX4 and DUX4 downstream target genes are expressed in fetal FSHD muscles

(2013) Maxime Ferreboeuf et al.   HUMAN MOLECULAR GENETICS

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

(2013) Natacha Broucqsault et al.   HUMAN MOLECULAR GENETICS

Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway

(2013) Ryu-Suke Nozawa et al.   NATURE STRUCTURAL & MOLECULAR 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

Deregulation of the Protocadherin Gene FAT1 Alters Muscle Shapes: Implications for the Pathogenesis of Facioscapulohumeral Dystrophy

(2013) Nathalie Caruso et al.   PLoS Genetics

Smchd1-Dependent and -Independent Pathways Determine Developmental Dynamics of CpG Island Methylation on the Inactive X Chromosome

(2012) Anne-Valerie Gendrel et al.   DEVELOPMENTAL CELL

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

Molecular combing reveals allelic combinations in facioscapulohumeral dystrophy

(2011) Karine Nguyen et al.   ANNALS OF NEUROLOGY

Reduced dosage of the modifiers of epigenetic reprogramming Dnmt1, Dnmt3L, SmcHD1 and Foxo3a has no detectable effect on mouse telomere length in vivo

(2011) Amity R. Roberts et al.   CHROMOSOMA

DUX4 Activates Germline Genes, Retroelements, and Immune Mediators: Implications for Facioscapulohumeral Dystrophy

(2011) Linda N. Geng et al.   DEVELOPMENTAL CELL

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

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

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