De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature

(2016) Benjamin Brasseur et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The epigenetic regulator Smchd1 contains a functional GHKL-type ATPase domain

(2016) K. Chen et al.   BIOCHEMICAL JOURNAL

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

(2016) Marie-Cécile Gaillard et al.   BMC Medical Genetics

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

GnRH, anosmia and hypogonadotropic hypogonadism – Where are we?

(2015) Paolo E. Forni et al.   FRONTIERS IN NEUROENDOCRINOLOGY

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

(2015) Jane E. Hewitt   HUMAN MOLECULAR GENETICS

Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome

(2015) Nicholas J. Brideau et al.   MOLECULAR AND CELLULAR BIOLOGY

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

Genome-wide binding and mechanistic analyses of Smchd1-mediated epigenetic regulation

(2015) Kelan Chen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Inter-individual differences in CpG methylation at D4Z4 correlate with clinical variability in FSHD1 and FSHD2

(2014) Richard J.L.F. Lemmers et al.   HUMAN MOLECULAR GENETICS

Structural Maintenance of Chromosomes Flexible Hinge Domain Containing 1 (SMCHD1) Promotes Non-homologous End Joining and Inhibits Homologous Recombination Repair upon DNA Damage

(2014) Mengfan Tang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

SMCHD1 accumulates at DNA damage sites and facilitates the repair of DNA double-strand breaks

(2014) H. Coker et al.   JOURNAL OF CELL SCIENCE

Phen-Gen: combining phenotype and genotype to analyze rare disorders

(2014) Asif Javed et al.   NATURE METHODS

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

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

Deciphering key features in protein structures with the new ENDscript server

(2014) Xavier Robert et al.   NUCLEIC ACIDS RESEARCH

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

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

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

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

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

GENCODE: The reference human genome annotation for The ENCODE Project

(2012) J. Harrow et al.   GENOME RESEARCH

Genomics of mature and immature olfactory sensory neurons

(2012) Melissa D. Nickell et al.   JOURNAL OF COMPARATIVE NEUROLOGY

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

Ensembl 2013

(2012) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Clinical features of facioscapulohumeral muscular dystrophy 2

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Novel skeletogenic patterning roles for the olfactory pit

(2008) H. L. Szabo-Rogers et al.   DEVELOPMENT

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

(2008) Marnie E Blewitt et al.   NATURE GENETICS