Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.

[1]  L. Vissers,et al.  Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome , 2021, European Journal of Human Genetics.

[2]  D. Conrad,et al.  Rare and de novo coding variants in chromodomain genes in Chiari I malformation. , 2020, American journal of human genetics.

[3]  Alexander E. Lopez,et al.  Exome sequencing and characterization of 49,960 individuals in the UK Biobank , 2020, Nature.

[4]  Patrick J. Short,et al.  Evidence for 28 genetic disorders discovered by combining healthcare and research data , 2020, Nature.

[5]  P. Cramer,et al.  Nucleosome-CHD4 chromatin remodeler structure maps human disease mutations , 2020, eLife.

[6]  Carol J. Saunders,et al.  A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome , 2020, European Journal of Human Genetics.

[7]  Ryan L. Collins,et al.  The mutational constraint spectrum quantified from variation in 141,456 humans , 2020, Nature.

[8]  G. Vriend,et al.  MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains , 2019, bioRxiv.

[9]  P. Kemmeren,et al.  Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders , 2018, Genetics in Medicine.

[10]  Tudor Groza,et al.  Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources , 2018, Nucleic Acids Res..

[11]  R. Pfundt,et al.  CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language , 2018, Nature Communications.

[12]  Gregory M. Cooper,et al.  CADD: predicting the deleteriousness of variants throughout the human genome , 2018, Nucleic Acids Res..

[13]  P. Donnelly,et al.  The UK Biobank resource with deep phenotyping and genomic data , 2018, Nature.

[14]  Caroline F. Wright,et al.  Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting , 2018, bioRxiv.

[15]  Stephane E. Castel,et al.  Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk , 2018, Nature Genetics.

[16]  Tom R. Gaunt,et al.  Low-frequency variation in TP53 has large effects on head circumference and intracranial volume , 2018, bioRxiv.

[17]  Maria Anna Rapsomaniki,et al.  EasyFRAP-web: a web-based tool for the analysis of fluorescence recovery after photobleaching data , 2018, Nucleic Acids Res..

[18]  Rachel L. Taylor,et al.  De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder , 2018, American journal of human genetics.

[19]  R. S. Porter,et al.  Neuron-specific alternative splicing of transcriptional machineries: Implications for neurodevelopmental disorders , 2017, Molecular and Cellular Neuroscience.

[20]  James D Stephenson,et al.  Quantifying the contribution of recessive coding variation to developmental disorders , 2017, Science.

[21]  Roland Brock,et al.  Frapbot: An open‐source application for FRAP data , 2017, Cytometry. Part A : the journal of the International Society for Analytical Cytology.

[22]  Ludovica Griffanti,et al.  Image processing and Quality Control for the first 10,000 brain imaging datasets from UK Biobank , 2017, NeuroImage.

[23]  Deciphering Developmental Disorders Study,et al.  Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.

[24]  N. Katsanis.  The continuum of causality in human genetic disorders , 2016, Genome Biology.

[25]  J. Clayton-Smith,et al.  Clinical and genetic aspects of KBG syndrome , 2016, American Journal of Medical Genetics. Part A.

[26]  P. Matthews,et al.  Multimodal population brain imaging in the UK Biobank prospective epidemiological study , 2016, Nature Neuroscience.

[27]  Brian T. Naughton,et al.  Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases , 2016, Nature Biotechnology.

[28]  Bradley P. Coe,et al.  Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. , 2016, American journal of human genetics.

[29]  P. Ng,et al.  SIFT missense predictions for genomes , 2015, Nature Protocols.

[30]  Joris M. Mooij,et al.  MAGMA: Generalized Gene-Set Analysis of GWAS Data , 2015, PLoS Comput. Biol..

[31]  Bale,et al.  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, Genetics in Medicine.

[32]  P. Elliott,et al.  UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age , 2015, PLoS medicine.

[33]  Lin Gao,et al.  HPOSim: An R Package for Phenotypic Similarity Measure and Enrichment Analysis Based on the Human Phenotype Ontology , 2015, PloS one.

[34]  Sven Bergmann,et al.  A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. , 2014, American journal of human genetics.

[35]  Donna M. Martin,et al.  Phenotypic heterogeneity of genomic disorders and rare copy-number variants. , 2012, The New England journal of medicine.

[36]  Aad van der Lugt,et al.  Common variants at 12q15 and 12q24 are associated with infant head circumference , 2012, Nature Genetics.

[37]  Ana Cvejic,et al.  Inheritance of low-frequency regulatory SNPs and a rare null mutation in exon-junction complex subunit RBM8A causes TAR , 2012, Nature Genetics.

[38]  J. Denu,et al.  Plant Homeodomain (PHD) Fingers of CHD4 Are Histone H3-binding Modules with Preference for Unmodified H3K4 and Methylated H3K9* , 2011, The Journal of Biological Chemistry.

[39]  P. Bork,et al.  A method and server for predicting damaging missense mutations , 2010, Nature Methods.

[40]  Gert Vriend,et al.  Increasing the precision of comparative models with YASARA NOVA—a self‐parameterizing force field , 2002, Proteins.

[41]  G Vriend,et al.  WHAT IF: a molecular modeling and drug design program. , 1990, Journal of molecular graphics.

[42]  Philip S. Yu,et al.  A new method to measure the semantic similarity of GO terms , 2007, Bioinform..