De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention

[1]  E. Encyclopedia,et al.  Organisation Mondiale de la Santé , 2014 .

[2]  G. Rouleau,et al.  De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention , 2012, Genome Medicine.

[3]  S. Steinberg,et al.  Rate of de novo mutations and the importance of father’s age to disease risk , 2012, Nature.

[4]  Eden R Martin,et al.  Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. , 2012, Human molecular genetics.

[5]  J. Veltman,et al.  De novo mutations in human genetic disease , 2012, Nature Reviews Genetics.

[6]  H. C. Fan,et al.  Noninvasive Prenatal Measurement of the Fetal Genome , 2012, Nature.

[7]  Jay Shendure,et al.  Noninvasive Whole-Genome Sequencing of a Human Fetus , 2012, Science Translational Medicine.

[8]  D. Pinto,et al.  SHANK1 Deletions in Males with Autism Spectrum Disorder. , 2012, American journal of human genetics.

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

[10]  Michael F. Walker,et al.  De novo mutations revealed by whole-exome sequencing are strongly associated with autism , 2012, Nature.

[11]  Evan T. Geller,et al.  Patterns and rates of exonic de novo mutations in autism spectrum disorders , 2012, Nature.

[12]  D. Cooper,et al.  Exome sequencing: a transient technology for molecular diagnostics? , 2012, Expert review of molecular diagnostics.

[13]  Bradley P. Coe,et al.  Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations , 2012, Nature.

[14]  J. Hardy,et al.  Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series , 2012, Neurobiology of Aging.

[15]  J. Sebat,et al.  High Frequencies of De Novo CNVs in Bipolar Disorder and Schizophrenia , 2011, Neuron.

[16]  Susanne Walitza,et al.  Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder , 2011, Nature Genetics.

[17]  L. Vissers,et al.  De novo copy number variants associated with intellectual disability have a paternal origin and age bias , 2011, Journal of Medical Genetics.

[18]  Hugo Y. K. Lam,et al.  Performance comparison of exome DNA sequencing technologies , 2011, Nature Biotechnology.

[19]  S. Lok,et al.  Increased exonic de novo mutation rate in individuals with schizophrenia , 2011, Nature Genetics.

[20]  Jamie K Teer,et al.  A mosaic activating mutation in AKT1 associated with the Proteus syndrome. , 2011, The New England journal of medicine.

[21]  S. Levy,et al.  Exome sequencing supports a de novo mutational paradigm for schizophrenia , 2011, Nature Genetics.

[22]  M. Cho,et al.  Cell-Free Fetal Nucleic Acid Testing: A Review of the Technology and Its Applications , 2011, Obstetrical & gynecological survey.

[23]  Kathryn Roeder,et al.  Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism , 2011, Neuron.

[24]  J. Lupski,et al.  Genomic medicine and neurological disease , 2011, Human Genetics.

[25]  R. Huganir,et al.  Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. , 2011, American journal of human genetics.

[26]  Yama W. L. Zheng,et al.  Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study , 2011, BMJ : British Medical Journal.

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

[28]  C. Depienne,et al.  De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine , 2010, Neurology.

[29]  Alexander R. Griffing,et al.  Direct measure of the de novo mutation rate in autism and schizophrenia cohorts. , 2010, American journal of human genetics.

[30]  Emily H Turner,et al.  Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome , 2010, Nature Genetics.

[31]  T. Laursen,et al.  Reproductive patterns in psychotic patients , 2010, Schizophrenia Research.

[32]  John B. Vincent,et al.  Citation for Published Item: Use Policy the Genetic Basis of Non-syndromic Intellectual Disability: a Review , 2022 .

[33]  Christian Gilissen,et al.  De novo mutations of SETBP1 cause Schinzel-Giedion syndrome , 2010, Nature Genetics.

[34]  Z. Wszolek,et al.  De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis , 2010, Human mutation.

[35]  P. Shannon,et al.  Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing , 2010, Science.

[36]  Marie-Pierre Dubé,et al.  De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia , 2010, Proceedings of the National Academy of Sciences.

[37]  Tomas W. Fitzgerald,et al.  Origins and functional impact of copy number variation in the human genome , 2010, Nature.

[38]  M. Lynch Rate, molecular spectrum, and consequences of human mutation , 2010, Proceedings of the National Academy of Sciences.

[39]  B. Post,et al.  Juvenile rapid-onset dystonia parkinsonism due to a ‘de novo’ mutation in the ATP1A3 gene , 2009, Journal of Pediatric Neurology.

[40]  J. Houwing-Duistermaat,et al.  Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy , 2009, Clinical genetics.

[41]  Elvira Bramon,et al.  Disruption of the neurexin 1 gene is associated with schizophrenia. , 2009, Human molecular genetics.

[42]  A. Addington,et al.  Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation. , 2009, The New England journal of medicine.

[43]  F. Légaré,et al.  Decisional needs assessment regarding Down syndrome prenatal testing: a systematic review of the perceptions of women, their partners and health professionals , 2008, Prenatal diagnosis.

[44]  Tatiana A. Tatusova,et al.  NCBI Reference Sequences: current status, policy and new initiatives , 2008, Nucleic Acids Res..

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

[46]  Joseph A. Gogos,et al.  Strong association of de novo copy number mutations with sporadic schizophrenia , 2008, Nature Genetics.

[47]  Christian R Marshall,et al.  Contribution of SHANK3 mutations to autism spectrum disorder. , 2007, American journal of human genetics.

[48]  H. Kurahashi,et al.  Focal epilepsy resulting from a de novo SCN1A mutation. , 2007, Neuropediatrics.

[49]  F. Gianfrancesco,et al.  De novo seven extra repeat expanded mutation in the PRNP gene in an Italian patient with early onset dementia , 2007, Journal of Neurology, Neurosurgery, and Psychiatry.

[50]  H. Firth,et al.  Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome , 2005, European Journal of Human Genetics.

[51]  J. Ward,et al.  Will men attribute fault to their GP for adverse effects arising from controversial screening tests? An Australian study using scenarios about PSA screening , 2004, Journal of medical screening.

[52]  J. Gécz,et al.  Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation. , 2004, American journal of human genetics.

[53]  P. Sullivan,et al.  Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. , 2003, Archives of general psychiatry.

[54]  Thomas Bourgeron,et al.  Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism , 2003, Nature Genetics.

[55]  F. Baas,et al.  Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients. , 2003, Human molecular genetics.

[56]  J. Lupski,et al.  Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation , 2002, Annals of neurology.

[57]  L. Lagae,et al.  De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. , 2001, American journal of human genetics.

[58]  P. Huppke,et al.  MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin. , 2001, American journal of human genetics.

[59]  C. Brenner Genomic approaches to elucidation of the Fhit pathway in worms and yeast: Rosetta Stone and synthetic lethals , 2001, Nature Genetics.

[60]  M. Lucas,et al.  Germline mutations in the CCM1 gene, encoding Krit1, cause cerebral cavernous malformations , 2001, Annals of neurology.

[61]  J. Chelly,et al.  Parental origin of de novo MECP2 mutations in Rett syndrome , 2001, European Journal of Human Genetics.

[62]  J. Crow The origins, patterns and implications of human spontaneous mutation , 2000, Nature Reviews Genetics.

[63]  Rivka L. Glaser,et al.  Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. , 2000, American journal of human genetics.

[64]  J. Parisi,et al.  De novo mutation in the Notch3 gene causing CADASIL , 2000, Annals of neurology.

[65]  H. Zoghbi,et al.  Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. , 1999, American journal of human genetics.

[66]  H. Zoghbi,et al.  Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2 , 1999, Nature Genetics.

[67]  S Kobayashi,et al.  A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? , 1999, Human molecular genetics.

[68]  N M Hjelm,et al.  Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. , 1998, The New England journal of medicine.

[69]  Gina Green,et al.  Cost–benefit estimates for early intensive behavioral intervention for young children with autism—general model and single state case , 1998 .

[70]  H. Zoghbi,et al.  A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map. , 1997, American journal of human genetics.

[71]  I. Sargent,et al.  Presence of fetal DNA in maternal plasma and serum , 1997, The Lancet.

[72]  Xavier Estivill,et al.  Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients , 1996, Human Genetics.

[73]  P. Goodfellow,et al.  Parent-of-origin effects in multiple endocrine neoplasia type 2B. , 1994, American journal of human genetics.

[74]  S. Pulst,et al.  Alteration in a new gene encoding a putative membrane-organizing protein causes neuro-fibromatosis type 2 , 1993, Nature.

[75]  J. Rabe-Jabłońska,et al.  [Affective disorders in the fourth edition of the classification of mental disorders prepared by the American Psychiatric Association -- diagnostic and statistical manual of mental disorders]. , 1993, Psychiatria polska.

[76]  J. Haines,et al.  A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor , 1993, Cell.

[77]  P. O'Connell,et al.  Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus , 1990, Cell.

[78]  C. Mathew,et al.  Paternal origin of new mutations in Von Recklinghausen neurofibromatosis , 1990, Nature.

[79]  A. Korten,et al.  Early manifestations and first-contact incidence of schizophrenia in different cultures: A preliminary report on the initial evaluation phase of the WHO Collaborative Study on Determinants of Outcome of Severe Mental Disorders , 1986, Psychological Medicine.

[80]  A. Knudson Mutation and cancer: statistical study of retinoblastoma. , 1971, Proceedings of the National Academy of Sciences of the United States of America.

[81]  J. Stockman,et al.  A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome , 2013 .

[82]  Candace Timpte,et al.  The Genetic Information Nondiscrimination Act , 2013 .

[83]  Deni Elliott,et al.  Genetic Information Nondiscrimination Act , 2008 .

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

[85]  C. Freitag,et al.  The genetics of autistic disorders and its clinical relevance: a review of the literature , 2007, Molecular Psychiatry.

[86]  J. Crow Age and sex effects on human mutation rates: an old problem with new complexities. , 2006, Journal of radiation research.

[87]  M. Clanet,et al.  Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations. , 2005, American journal of human genetics.

[88]  S. Bhattacharya,et al.  X chromosome linkage studies in familial Rett syndrome , 2004, Human Genetics.

[89]  D. Rodriguez,et al.  Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease , 2001, Nature Genetics.

[90]  F. Baas,et al.  Déjérine‐Sottas neuropathy is associated with a de novo PMP22 mutation , 1995, Human mutation.

[91]  N. Kley,et al.  A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor. , 1993, Cell.

[92]  Sho Tin Chen,et al.  National Institute of Mental Health , 2020, Definitions.