SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy

(2016) Marlinde L. van den Boogaard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2016) K. Chen et al.   BIOCHEMICAL JOURNAL

Targeted resequencing identifiesPTCH1as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

(2016) Nicolas Chassaing et al.   GENOME RESEARCH

A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma

(2016) Chunqiao Liu et al.   HUMAN MOLECULAR GENETICS

Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2

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(2016) Monkol Lek et al.   NATURE

CHOPCHOP v2: a web tool for the next generation of CRISPR genome engineering

(2016) Kornel Labun et al.   NUCLEIC ACIDS RESEARCH

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(2016) Bronwen L. Aken et al.   Database-The Journal of Biological Databases and Curation

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

(2016) Andrew T Timberlake et al.   eLife

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

(2015) Mala Isrie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

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

The I-TASSER Suite: protein structure and function prediction

(2015) Jianyi Yang et al.   NATURE METHODS

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(2015) Lawrence A Kelley et al.   Nature Protocols

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(2015) Nuala A. O'Leary et al.   NUCLEIC ACIDS RESEARCH

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

Improving prediction of secondary structure, local backbone angles and solvent accessible surface area of proteins by iterative deep learning

(2015) Rhys Heffernan et al.   Scientific Reports

Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy

(2015) Takako I Jones et al.   Clinical Epigenetics

Exact and Asymptotic Weighted Logrank Tests for Interval Censored Data: TheintervalRPackage

(2015) Michael P. Fay et al.   Journal of Statistical Software

Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families

(2014) Ian Blumenthal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

A framework for the interpretation of de novo mutation in human disease

(2014) Kaitlin E Samocha et al.   NATURE GENETICS

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

(2014) Janan T. Eppig et al.   NUCLEIC ACIDS RESEARCH

CHD8regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors

(2014) Aarathi Sugathan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identifying diagnostic DNA methylation profiles for facioscapulohumeral muscular dystrophy in blood and saliva using bisulfite sequencing

(2014) Takako I Jones et al.   Clinical Epigenetics

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

(2013) Corry MR Weemaes et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

(2013) Amelia M. Lindgren et al.   HUMAN GENETICS

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

(2013) Mani Yahyavi et al.   HUMAN MOLECULAR 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

Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal

(2013) J. Gao et al.   Science Signaling

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

RSeQC: quality control of RNA-seq experiments

(2012) Liguo Wang et al.   BIOINFORMATICS

RNA-SeQC: RNA-seq metrics for quality control and process optimization

(2012) David S. DeLuca et al.   BIOINFORMATICS

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

(2012) Cornelis A Albers et al.   NATURE GENETICS

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

Skeletogenic Fate of Zebrafish Cranial and Trunk Neural Crest

(2012) Erika Kague et al.   PLoS One

The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data: Figure 1.

(2012) Ethan Cerami et al.   Cancer Discovery

Deletion of KDM6A, a Histone Demethylase Interacting with MLL2, in Three Patients with Kabuki Syndrome

(2011) Damien Lederer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

LOVD v.2.0: the next generation in gene variant databases

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(2011) Mark A DePristo et al.   NATURE GENETICS

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

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Worldwide Population Analysis of the 4q and 10q Subtelomeres Identifies Only Four Discrete Interchromosomal Sequence Transfers in Human Evolution

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BISMA - Fast and accurate bisulfite sequencing data analysis of individual clones from unique and repetitive sequences

(2010) Christian Rohde et al.   BMC BIOINFORMATICS

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

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Clinical features of facioscapulohumeral muscular dystrophy 2

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

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A Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy

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

A Multiplex Human Syndrome Implicates a Key Role for Intestinal Cell Kinase in Development of Central Nervous, Skeletal, and Endocrine Systems

(2009) Piya Lahiry et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Compound heterozygosity for mutations inPAX6in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia

(2009) Benjamin D. Solomon et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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(2009) H. Li et al.   BIOINFORMATICS

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(2009) M. D. Robinson et al.   BIOINFORMATICS

Pena-Shokeir phenotype (Fetal akinesia deformation sequence) revisited

(2009) Judith G. Hall   BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY

The zebrafish as a model system for forebrain GnRH neuronal development

(2009) Eytan Abraham et al.   GENERAL AND COMPARATIVE ENDOCRINOLOGY

Neuroendocrinology of reproduction in teleost fish

(2009) Yonathan Zohar et al.   GENERAL AND COMPARATIVE ENDOCRINOLOGY

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization

(2009) J. Chen et al.   NUCLEIC ACIDS RESEARCH

A generic method for assignment of reliability scores applied to solvent accessibility predictions

(2009) Bent Petersen et al.   BMC STRUCTURAL BIOLOGY

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

(2008) Marnie E Blewitt et al.   NATURE GENETICS