Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype

[1]  T. Gillis,et al.  A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene , 2016, European Journal of Human Genetics.

[2]  T. Gillis,et al.  A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene , 2016, European Journal of Human Genetics.

[3]  D. Pinto,et al.  Identification of novel genetic causes of Rett syndrome-like phenotypes , 2016, Journal of Medical Genetics.

[4]  M. Esteller,et al.  Mutations in JMJD1C are involved in Rett syndrome and intellectual disability , 2015, Genetics in Medicine.

[5]  T. Tsunoda,et al.  Targeted next‐generation sequencing in the diagnosis of neurodevelopmental disorders , 2015, Clinical genetics.

[6]  W. Kaufmann,et al.  Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome , 2015, American journal of medical genetics. Part A.

[7]  T. Matsuishi,et al.  De novo SHANK3 mutation causes Rett syndrome‐like phenotype in a female patient , 2015, American journal of medical genetics. Part A.

[8]  G. Carvill,et al.  Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures. , 2015, American journal of human genetics.

[9]  Shihua Li,et al.  Postnatal Loss of Hap1 Reduces Hippocampal Neurogenesis and Causes Adult Depressive-Like Behavior in Mice , 2015, PLoS genetics.

[10]  Yujun Han,et al.  Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios , 2015, Genetics in Medicine.

[11]  S. Zuberi,et al.  Dravet syndrome—From epileptic encephalopathy to channelopathy , 2014, Epilepsia.

[12]  Oriane Trouillard,et al.  De novo mutations in HCN1 cause early infantile epileptic encephalopathy , 2014, Nature Genetics.

[13]  A. Hoischen,et al.  Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities , 2014, Epilepsia.

[14]  Markus Wolff,et al.  GRIN2B Mutations in West Syndrome and Intellectual Disability with Focal Epilepsy , 2014, Annals of neurology.

[15]  J. Sweatt,et al.  Pitt–Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription , 2013, Experimental & Molecular Medicine.

[16]  S. Furini,et al.  Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing , 2013, PloS one.

[17]  T. van Groen,et al.  Motor restlessness, sleep disturbances, thermal sensory alterations and elevated serum iron levels in Btbd9 mutant mice. , 2012, Human molecular genetics.

[18]  G. Vasco,et al.  Proposal of a clinical score for the molecular test for Pitt–Hopkins syndrome , 2012, American journal of medical genetics. Part A.

[19]  F. Saudou,et al.  Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway , 2012, Neurobiology of Disease.

[20]  Qun Lu,et al.  Habenular a5 nicotinic receptor subunit signalling controls nicotine intake , 2011 .

[21]  W. Kaufmann,et al.  Rett syndrome: Revised diagnostic criteria and nomenclature , 2010, Annals of neurology.

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

[23]  H. Ropers,et al.  Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes , 2010, Nature Genetics.

[24]  K. Mitchell,et al.  Roles of Semaphorin-6B and Plexin-A2 in Lamina-Restricted Projection of Hippocampal Mossy Fibers , 2010, The Journal of Neuroscience.

[25]  C. Gieger,et al.  Replication of restless legs syndrome loci in three European populations , 2009, Journal of Medical Genetics.

[26]  Alessandra Renieri,et al.  FOXG1 is responsible for the congenital variant of Rett syndrome. , 2008, American journal of human genetics.

[27]  J. Kaplan,et al.  Behavioral Impact of Neurotransmitter-Activated G-Protein-Coupled Receptors: Muscarinic and GABAB Receptors Regulate Caenorhabditis elegans Locomotion , 2008, The Journal of Neuroscience.

[28]  A. Percy.  Rett Syndrome: Recent Research Progress , 2008, Journal of child neurology.

[29]  Huda Y. Zoghbi,et al.  The Story of Rett Syndrome: From Clinic to Neurobiology , 2007, Neuron.

[30]  Thomas Bourgeron,et al.  Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders , 2007, Nature Genetics.

[31]  J. Cryan,et al.  Altered anxiety and depression-related behaviour in mice lacking GABAB(2) receptor subunits , 2005, Neuroreport.

[32]  Richard J. Thompson,et al.  Characterization of mutations in ATP8B1 associated with hereditary cholestasis , 2004, Hepatology.

[33]  E. Haan,et al.  Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. , 2003, American journal of human genetics.

[34]  Andrew J. Grimm,et al.  RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution , 2003, Human mutation.

[35]  G. Barsh,et al.  Spongiform Degeneration in mahoganoid Mutant Mice , 2003, Science.

[36]  M. Labouesse.  [Caenorhabditis elegans]. , 2003, Medecine sciences : M/S.

[37]  M. Hayden,et al.  Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior. , 2002, Human molecular genetics.

[38]  E. Monrós,et al.  Rett syndrome in Spain: mutation analysis and clinical correlations , 2001, Brain and Development.

[39]  Rajesh Ranganathan,et al.  C. elegans Locomotory Rate Is Modulated by the Environment through a Dopaminergic Pathway and by Experience through a Serotonergic Pathway , 2000, Neuron.

[40]  A. Bird,et al.  Purification, sequence, and cellular localization of a novel chromosomal protein that binds to Methylated DNA , 1992, Cell.

[41]  N. Munakata.  [Genetics of Caenorhabditis elegans]. , 1989, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.

[42]  A Rett,et al.  [On a unusual brain atrophy syndrome in hyperammonemia in childhood]. , 1966, Wiener medizinische Wochenschrift.