Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

[1]  J. Aerts,et al.  Predicting disease-causing variant combinations , 2019, Proceedings of the National Academy of Sciences.

[2]  Damian Szklarczyk,et al.  STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets , 2018, Nucleic Acids Res..

[3]  R. Pfundt,et al.  Okur‐Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion , 2018, Clinical genetics.

[4]  Y. Tsurusaki,et al.  Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome , 2018, Human Genome Variation.

[5]  Geert Vandeweyer,et al.  pyAmpli: an amplicon-based variant filter pipeline for targeted resequencing data , 2017, BMC Bioinformatics.

[6]  Heather Cody Hazlett,et al.  Fragile X syndrome , 2017, Nature Reviews Disease Primers.

[7]  Joan,et al.  Prevalence and architecture of de novo mutations in developmental disorders , 2017, Nature.

[8]  L. Vissers,et al.  Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability , 2016, Nature Neuroscience.

[9]  G. Kirov,et al.  Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy , 2016, BMC Medical Genetics.

[10]  Sharyn A. Lincoln,et al.  De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features , 2016, Human Genetics.

[11]  L. Vissers,et al.  Genetic studies in intellectual disability and related disorders , 2015, Nature Reviews Genetics.

[12]  Paul M. Jenkins,et al.  Giant ankyrin-G: A critical innovation in vertebrate evolution of fast and integrated neuronal signaling , 2014, Proceedings of the National Academy of Sciences.

[13]  Christopher S. Poultney,et al.  Synaptic, transcriptional, and chromatin genes disrupted in autism , 2014, Nature.

[14]  B. Schürmann,et al.  Psychiatric Risk Factor ANK3/Ankyrin-G Nanodomains Regulate the Structure and Function of Glutamatergic Synapses , 2014, Neuron.

[15]  Akash Kumar,et al.  MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing , 2014, Bioinform..

[16]  Bradley P. Coe,et al.  The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism , 2014, American journal of medical genetics. Part C, Seminars in medical genetics.

[17]  Stephan J Sanders,et al.  A framework for the interpretation of de novo mutation in human disease , 2014, Nature Genetics.

[18]  R. Kooy,et al.  Fragile X syndrome neurobiology translates into rational therapy. , 2014, Drug discovery today.

[19]  Stephen J. Guter,et al.  Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders , 2014, American journal of human genetics.

[20]  J. Shendure,et al.  A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.

[21]  J. Shendure,et al.  A de novo convergence of autism genetics and molecular neuroscience , 2014, Trends in Neurosciences.

[22]  C. Baldwin,et al.  The ankyrin-3 gene is associated with posttraumatic stress disorder and externalizing comorbidity , 2013, Psychoneuroendocrinology.

[23]  E. Walker,et al.  Diagnostic and Statistical Manual of Mental Disorders , 2013 .

[24]  Y. Fukushima,et al.  Clinical correlations of mutations affecting six components of the SWI/SNF complex: Detailed description of 21 patients and a review of the literature , 2013, American journal of medical genetics. Part A.

[25]  L. Vissers,et al.  Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders. , 2013, Human molecular genetics.

[26]  Bradley P. Coe,et al.  Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders , 2012, Science.

[27]  Zhong Sheng Sun,et al.  Mutations of ANK3 identified by exome sequencing are associated with autism susceptibility , 2012, Human mutation.

[28]  Chen Zhang,et al.  ANK3 as a risk gene for schizophrenia: New data in han Chinese and meta analysis , 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[29]  B. V. van Bon,et al.  Diagnostic exome sequencing in persons with severe intellectual disability. , 2012, The New England journal of medicine.

[30]  D. Horn,et al.  Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study , 2012, The Lancet.

[31]  Allison G. Dempsey,et al.  A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders , 2012, Journal of Medical Genetics.

[32]  Kenny Q. Ye,et al.  De Novo Gene Disruptions in Children on the Autistic Spectrum , 2012, Neuron.

[33]  I. Scheffer,et al.  KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy , 2012, Annals of neurology.

[34]  Hans van Bokhoven,et al.  Genetic and epigenetic networks in intellectual disabilities. , 2011, Annual review of genetics.

[35]  J. Fak,et al.  FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism , 2011, Cell.

[36]  J. Groothoff,et al.  Prevalence of chronic health conditions in children with intellectual disability: a systematic literature review. , 2011, Intellectual and developmental disabilities.

[37]  M. DePristo,et al.  A framework for variation discovery and genotyping using next-generation DNA sequencing data , 2011, Nature Genetics.

[38]  L. Isom,et al.  Electrophysiology and beyond: Multiple roles of Na+ channel β subunits in development and disease , 2010, Neuroscience Letters.

[39]  Christian Gilissen,et al.  A de novo paradigm for mental retardation , 2010, Nature Genetics.

[40]  Elvira Bramon,et al.  Gene variants associated with schizophrenia in a Norwegian genome-wide study are replicated in a large European cohort. , 2010, Journal of psychiatric research.

[41]  M. DePristo,et al.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. , 2010, Genome research.

[42]  Jessica R. Wolff,et al.  Microduplications of 16p11.2 are Associated with Schizophrenia , 2009, Nature Genetics.

[43]  Jürgen-Markus Sobotzik,et al.  AnkyrinG is required to maintain axo-dendritic polarity in vivo , 2009, Proceedings of the National Academy of Sciences.

[44]  P. Stankiewicz,et al.  Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders , 2009, Journal of Medical Genetics.

[45]  Christophe Leterrier,et al.  Protein kinase CK2 contributes to the organization of sodium channels in axonal membranes by regulating their interactions with ankyrin G , 2008, The Journal of cell biology.

[46]  S. Cichon,et al.  Two variants in Ankyrin 3 (ANK3) are independent genetic risk factors for bipolar disorder , 2008, Molecular Psychiatry.

[47]  Thomas W. Mühleisen,et al.  Large recurrent microdeletions associated with schizophrenia , 2008, Nature.

[48]  S. Gabriel,et al.  Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder , 2008, Nature Genetics.

[49]  Joshua M. Korn,et al.  Association between microdeletion and microduplication at 16p11.2 and autism. , 2008, The New England journal of medicine.

[50]  I. Scheffer,et al.  Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. , 2006, Brain : a journal of neurology.

[51]  Vann Bennett,et al.  A Common Ankyrin-G-Based Mechanism Retains KCNQ and NaV Channels at Electrically Active Domains of the Axon , 2006, The Journal of Neuroscience.

[52]  M. Hortsch,et al.  Structural Requirements for Interaction of Sodium Channel β1 Subunits with Ankyrin* , 2002, The Journal of Biological Chemistry.

[53]  M. Solimena,et al.  βiv Spectrin, a New Spectrin Localized at Axon Initial Segments and Nodes of Ranvier in the Central and Peripheral Nervous System , 2000, The Journal of cell biology.

[54]  Vann Bennett,et al.  AnkyrinG Is Required for Clustering of Voltage-gated Na Channels at Axon Initial Segments and for Normal Action Potential Firing , 1998, The Journal of cell biology.

[55]  Samuel F. Berkovic,et al.  Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel ß1 subunit gene SCN1B , 1998, Nature Genetics.

[56]  W. Catterall,et al.  Molecular Determinants of Na+ Channel Function in the Extracellular Domain of the β1 Subunit* , 1998, The Journal of Biological Chemistry.

[57]  V. Bennett,et al.  Molecular composition of the node of Ranvier: identification of ankyrin- binding cell adhesion molecules neurofascin (mucin+/third FNIII domain- ) and NrCAM at nodal axon segments , 1996, The Journal of cell biology.

[58]  P. Vaglio,et al.  Protein Kinase CK2 Mutants Defective in Substrate Recognition , 1996, The Journal of Biological Chemistry.

[59]  Jack A. M. Leunissen,et al.  Turning CFCs into salt. , 1996, Nucleic Acids Res..

[60]  V. Bennett,et al.  AnkyrinG. A new ankyrin gene with neural-specific isoforms localized at the axonal initial segment and node of Ranvier. , 1995, The Journal of biological chemistry.

[61]  Claude-Alain H. Roten,et al.  Theoretical and practical advances in genome halving , 2004 .