Exome sequencing and the genetics of intellectual disability

Topper S, Ober C, Das S. Exome sequencing and the genetics of intellectual disability.

[1]  James C. Mullikin,et al.  Exome sequencing: the sweet spot before whole genomes , 2010, Human molecular genetics.

[2]  E. Hatfield,et al.  Chronic sorrow revisited: parent vs. professional depiction of the adjustment of parents of mentally retarded children. , 1981, The American journal of orthopsychiatry.

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

[4]  J. Higgins,et al.  A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation , 2004, Neurology.

[5]  Steve D. M. Brown,et al.  Mutations in α-Tubulin Cause Abnormal Neuronal Migration in Mice and Lissencephaly in Humans , 2007, Cell.

[6]  F. Zahir,et al.  The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility , 2007, Clinical genetics.

[7]  Andrew Menzies,et al.  A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation , 2009, Nature Genetics.

[8]  Hussain Jafri,et al.  Identification of microcephalin, a protein implicated in determining the size of the human brain. , 2002, American journal of human genetics.

[9]  Edwin H. Cook,et al.  Copy-number variations associated with neuropsychiatric conditions , 2008, Nature.

[10]  C. Croce,et al.  Knockdown of ALR (MLL2) Reveals ALR Target Genes and Leads to Alterations in Cell Adhesion and Growth , 2006, Molecular and Cellular Biology.

[11]  David P Bick,et al.  Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease , 2011, Genetics in Medicine.

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

[13]  Lawrence H. Uricchio,et al.  Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. , 2011, Human molecular genetics.

[14]  S. Packman,et al.  Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase , 1993, Nature Genetics.

[15]  G. Hannon,et al.  Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. , 2010, American journal of human genetics.

[16]  James L. Bellini,et al.  Mental Retardation: Definition, Classification, and Systems of Supports , 2003 .

[17]  State-specific rates of mental retardation--United States, 1993. , 1996, MMWR. Morbidity and mortality weekly report.

[18]  H. Ropers Genetics of early onset cognitive impairment. , 2010, Annual review of genomics and human genetics.

[19]  D. Ledbetter,et al.  Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. , 1997, Human molecular genetics.

[20]  P. Robinson,et al.  Whole-exome sequencing for finding de novo mutations in sporadic mental retardation , 2010, Genome Biology.

[21]  Sebastian Bauer,et al.  Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome , 2010, Nature Genetics.

[22]  Juliane Hoyer,et al.  Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation , 2006, American journal of medical genetics. Part A.

[23]  Ton Feuth,et al.  Diagnostic genome profiling in mental retardation. , 2005, American journal of human genetics.

[24]  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.

[25]  C. Woods,et al.  WDR62 is associated with the spindle pole and is mutated in human microcephaly , 2010, Nature Genetics.

[26]  M. King,et al.  Genetic Heterogeneity in Human Disease , 2010, Cell.

[27]  Yves Lachapelle,et al.  The renaming of mental retardation: understanding the change to the term intellectual disability. , 2007, Intellectual and developmental disabilities.

[28]  K. Buysse,et al.  Delineation of a critical region on chromosome 18 for the del(18)(q12.2q21.1) syndrome , 2008, American journal of medical genetics. Part A.

[29]  Benjamin R. Rost,et al.  A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. , 2007, 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]  R. Uher,et al.  The role of genetic variation in the causation of mental illness: an evolution-informed framework , 2009, Molecular Psychiatry.

[32]  C. Walsh,et al.  The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation , 2005, Journal of Medical Genetics.

[33]  R. Sharp Downsizing genomic medicine: Approaching the ethical complexity of whole-genome sequencing by starting small , 2011, Genetics in Medicine.

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

[35]  H. Ropers X-linked mental retardation: many genes for a complex disorder. , 2006, Current opinion in genetics & development.

[36]  A. Gropman,et al.  Epigenetics, Copy Number Variation, and Other Molecular Mechanisms Underlying Neurodevelopmental Disabilities: New Insights and Diagnostic Approaches , 2010, Journal of developmental and behavioral pediatrics : JDBP.

[37]  A. F. Stewart,et al.  Multiple epigenetic maintenance factors implicated by the loss of Mll2 in mouse development , 2006, Development.

[38]  L. Hudgins,et al.  Kabuki syndrome: a review , 2004, Clinical genetics.

[39]  Naomichi Matsumoto,et al.  De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy , 2008, Nature Genetics.

[40]  W. Dobyns,et al.  Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans , 2002, Nature Genetics.

[41]  I. Krantz,et al.  Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation. , 2007, American journal of human genetics.

[42]  I. Tikhonova,et al.  Genetic diagnosis by whole exome capture and massively parallel DNA sequencing , 2009, Proceedings of the National Academy of Sciences.

[43]  A. Represa,et al.  Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria , 2009, Nature Genetics.

[44]  H. Ropers,et al.  A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. , 2008, American journal of human genetics.

[45]  Alexander F. Markham,et al.  ASPM is a major determinant of cerebral cortical size , 2002, Nature Genetics.

[46]  R. Stevenson,et al.  Sibling recurrence in intellectual disability of unknown cause , 2011, Clinical genetics.

[47]  S Schwartz,et al.  Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. , 1997, American journal of medical genetics.

[48]  Hussain Jafri,et al.  A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size , 2005, Nature Genetics.

[49]  A. Munnich,et al.  Truncating Neurotrypsin Mutation in Autosomal Recessive Nonsyndromic Mental Retardation , 2002, Science.

[50]  S. Blanton,et al.  Mutations in STIL, encoding a pericentriolar and centrosomal protein, cause primary microcephaly. , 2009, American journal of human genetics.

[51]  J. Jamison The impact of mental retardation on the family and some directions of help. , 1965, Journal of the National Medical Association.

[52]  P. Awadalla,et al.  Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4. , 2010, American journal of human genetics.

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

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

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

[56]  R. Durbin,et al.  Dindel: accurate indel calls from short-read data. , 2011, Genome research.

[57]  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.

[58]  C. Walsh,et al.  Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. , 2011, American journal of human genetics.

[59]  Emily H Turner,et al.  Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes , 2009, Nature.

[60]  J. Moeschler Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability , 2008, Current opinion in neurology.

[61]  J. Gécz,et al.  Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly. , 2010, American journal of human genetics.

[62]  Amanda Honeycutt,et al.  Economic costs associated with mental retardation, cerebral palsy, hearing loss, and vision impairment--United States, 2003. , 2004, MMWR. Morbidity and mortality weekly report.

[63]  H. Leonard,et al.  The epidemiology of mental retardation: challenges and opportunities in the new millennium. , 2002, Mental retardation and developmental disabilities research reviews.