Genomics, Intellectual Disability, and Autism

Next-generation DNA sequencing

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Global variation in copy number in the human genome

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Detection of large-scale variation in the human genome

Iafrate, A. J., Feuk, L., Rivera, M. N., Listewnik, M. L., Donahoe, P. K., Qi, Y., Scherer, S. W., & Lee, C. (2004) · Nature Genetics · doi:10.1038/ng1416 · Cited by 2,892

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

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Strong association of de novo copy number mutations with autism

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Large-scale copy number polymorphism in the human genome

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Nucleotide sequence of bacteriophage G4 DNA

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Targeted capture and massively parallel sequencing of 12 human exomes

Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030

Functional impact of global rare copy number variation in autism spectrum disorders

Pinto, D., Pagnamenta, A. T., Klei, L., Anney, R., Merico, D., Regan, R., Conroy, J., Magalhaes, T. R., Correia, C., Abrahams, B. S., et al. (2010) · Nature · doi:10.1038/nature09146 · Cited by 2,013

Exome sequencing identifies the cause of a mendelian disorder

Ng, S. B., Buckingham, K. J., Lee, C., Bigham, A. W., Tabor, H. K., Dent, K. M., Huff, C. D., Shannon, P. T., Jabs, E. W., Nickerson, D. A., et al. (2010) · Nature Genetics · doi:10.1038/ng.499 · Cited by 1,957

Structural Variation of Chromosomes in Autism Spectrum Disorder

Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815

Large recurrent microdeletions associated with schizophrenia.

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Association between Microdeletion and Microduplication at 16p11.2 and Autism

Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666

Nucleotide sequence of bacteriophage φX174 DNA

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Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602

Rare chromosomal deletions and duplications increase risk of schizophrenia

The International Schizophrenia Consortium (2008) · Nature · doi:10.1038/nature07239 · Cited by 1,475

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

The Autism Genome Project Consortium (2007) · Nature Genetics · doi:10.1038/ng1985 · Cited by 1,402

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I. R., Zumbo, P., Nayır, A., Bakkaloğlu, A., Özen, S., Sanjad, S. A., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910672106 · Cited by 1,385

A copy number variation morbidity map of developmental delay

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2011) · Nature Genetics · doi:10.1038/ng.835 · Cited by 1,203

Pervasive Developmental Disorders in preschool children

Chakrabarti, S. (2001) · JAMA · doi:10.1001/jama.285.24.3093 · Cited by 1,132

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

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A de novo paradigm for mental retardation.

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Untitled work

(1959) · PubMed · Cited by 820

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

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Rate, molecular spectrum, and consequences of human mutation

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Pervasive Developmental Disorders in Preschool Children: Confirmation of High Prevalence

Chakrabarti, S., & Fombonne, E. (2005) · American Journal of Psychiatry · doi:10.1176/appi.ajp.162.6.1133 · Cited by 791

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

Butler, M. G., Dasouki, M. J., Zhou, X.-P., Talebizadeh, Z., Brown, M., Takahashi, T. N., Miles, J. H., Wang, C. H., Stratton, R., Pilarski, R., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.024646 · Cited by 778

Recurrent 16p11.2 microdeletions in autism

Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731

Microduplications of 16p11.2 are associated with schizophrenia

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Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities

Manning, M. A., & Hudgins, L. (2010) · Genetics in Medicine · doi:10.1097/gim.0b013e3181f8baad · Cited by 683

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Girirajan, S., Rosenfeld, J. A., Cooper, G. M., Antonacci, F., Siswara, P., Itsara, A., Vives, L., Walsh, T., McCarthy, S. E., Baker, C., et al. (2010) · Nature Genetics · doi:10.1038/ng.534 · Cited by 667

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome

Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., et al. (2006) · Nature Genetics · doi:10.1038/ng1862 · Cited by 658

The epidemiology of mental retardation: Challenges and opportunities in the new millennium

Leonard, H., & Wen, X. (2002) · Mental Retardation and Developmental Disabilities Research Reviews · doi:10.1002/mrdd.10031 · Cited by 642

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

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Large, rare chromosomal deletions associated with severe early-onset obesity

Bochukova, E. G., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., O’Rahilly, S., et al. (2010) · Nature · doi:10.1038/nature08689 · Cited by 613

Diagnostic genome profiling in mental retardation

de Vries, B. B. A., Pfundt, R., Leisink, M., Koolen, D. A., Vissers, L. E. L. M., Janssen, I. M., Reijmersdal, S. V., Nillesen, W. M., Huys, E. H. L. P. G., Leeuw, N. D., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/491719 · Cited by 605

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Tarpey, P. S., Smith, R., Pleasance, E., Whibley, A., Edkins, S., Hardy, C., O'Meara, S., Latimer, C., Dicks, E., Menzies, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.367 · Cited by 603

Population analysis of large copy number variants and hotspots of human genetic disease

Itsara, A., Cooper, G. M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R. M., Myers, R. M., Ridker, P. M., Chasman, D. I., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.014 · Cited by 591

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Sharp, A. J., Mefford, H. C., Li, K., Baker, C., Skinner, C., Stevenson, R. E., Schroer, R. J., Novara, F., De Gregori, M., Ciccone, R., et al. (2008) · Nature Genetics · doi:10.1038/ng.93 · Cited by 582

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., Stefansson, H., Stefansson, K., Magnusson, P., Gudmundsson, O. O., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61109-9 · Cited by 572

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.

Helbig, I., Mefford, H. C., Sharp, A. J., Guipponi, M., Fichera, M., Franke, A., Muhle, H., de Kovel, C., Baker, C., von Spiczak, S., et al. (2009) · Nature Genetics · doi:10.1038/ng.292 · Cited by 551

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature · doi:10.1038/nature08727 · Cited by 543

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

Endele, S., Rosenberger, G., Geider, K., Popp, B., Tamer, C., Stefanova, I., Milh, M., Kortüm, F., Fritsch, A., Pientka, F. K., et al. (2010) · Nature Genetics · doi:10.1038/ng.677 · Cited by 499

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

Hoischen, A., van Bon, B. W. M., Gilissen, C., Arts, P., van Lier, B., Steehouwer, M., de Vries, P., de Reuver, R., Wieskamp, N., Mortier, G., et al. (2010) · Nature Genetics · doi:10.1038/ng.581 · Cited by 489

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

Koolen, D. A., Vissers, L. E. L. M., Pfundt, R., de Leeuw, N., Knight, S. J. L., Regan, R., Kooy, R. F., Reyniers, E., Romano, C., Fichera, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1853 · Cited by 465

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature · doi:10.1038/nature10406 · Cited by 462

Subtle chromosomal rearrangements in children with unexplained mental retardation

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Genomic Medicine — An Updated Primer

Feero, W. G., Guttmacher, A. E., & Collins, F. S. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0907175 · Cited by 445

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

de Kovel, C. G. F., Trucks, H., Helbig, I., Mefford, H. C., Baker, C., Leu, C., Kluck, C., Muhle, H., von Spiczak, S., Ostertag, P., et al. (2010) · Brain · doi:10.1093/brain/awp262 · Cited by 445

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders.

Miller, D. T., Shen, Y., Weiss, L. A., Korn, J., Anselm, I., Bridgemohan, C., Cox, G. F., Dickinson, H., Gentile, J., Harris, D. J., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.059907 · Cited by 427

Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

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Interstitial deletion of (17)(p11.2p11.2) in nine patients

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De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot

Greenway, S. C., Pereira, A. C., Lin, J., DePalma, S. R., Israel, S., Mesquita, S. M., Ergul, E. A., Conta, J. H., Korn, J. M., McCarroll, S. A., et al. (2009) · Nature Genetics · doi:10.1038/ng.415 · Cited by 401

Genetics of Early Onset Cognitive Impairment

Ropers, H. (2010) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-082509-141640 · Cited by 398

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia.

Kirov, G., Grozeva, D., Norton, N., Ivanov, D., Mantripragada, K. K., Holmans, P., International Schizophrenia Consortium, the Wellcome Trust Case Control Consortium, Craddock, N., Owen, M. J., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp043 · Cited by 390

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

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Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

van Bon, B. W. M., Mefford, H. C., Menten, B., Koolen, D. A., Sharp, A. J., Nillesen, W. M., Innis, J. W., de Ravel, T. J. L., Mercer, C. L., Fichera, M., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.063412 · Cited by 363

The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13

Hogart, A., Wu, D., LaSalle, J. M., & Schanen, N. C. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.08.011 · Cited by 361

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant

Hannes, F., Sharp, A. J., Mefford, H. C., de Ravel, T. J. L., Ruivenkamp, C. A. L., Breuning, M. H., Fryns, J., Devriendt, K., Buggenhout, G. V., Vogels, A., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.055202 · Cited by 349

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia

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Linkage Disequilibrium and Heritability of Copy-Number Polymorphisms within Duplicated Regions of the Human Genome

Locke, D. P., Sharp, A. J., McCarroll, S. A., McGrath, S. D., Newman, T. L., Cheng, Z., Schwartz, S., Albertson, D. G., Pinkel, D., Altshuler, D., et al. (2006) · The American Journal of Human Genetics · doi:10.1086/505653 · Cited by 321

Clinical and cytogenetic survey of 39 individuals with Prader‐Labhart‐Willi syndrome

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Novel submicroscopic chromosomal abnormalities detected in autism spectrum disorder.

Christian, S. L., Brune, C. W., Sudi, J., Kumar, R. A., Liu, S., Karamohamed, S., Badner, J. A., Matsui, S., Conroy, J., McQuaid, D., et al. (2008) · Biological Psychiatry · doi:10.1016/j.biopsych.2008.01.009 · Cited by 299

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

Ballif, B. C., Theisen, A. P., Coppinger, J., Gowans, G. C., Hersh, J. H., Madan‐Khetarpal, S., Schmidt, K. R., Tervo, R. C., Escobar, L., Friedrich, C. A., et al. (2008) · Molecular Cytogenetics · doi:10.1186/1755-8166-1-8 · Cited by 296

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

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3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

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Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

Dibbens, L. M., Mullen, S. A., Helbig, K. L., Mefford, H. C., Bayly, M. A., Bellows, S. T., Leu, C., Trucks, H., Obermeier, T., Wittig, M., et al. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp311 · Cited by 268

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

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Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay

Burnside, R. D., Pasion, R., Mikhail, F. M., Carroll, A. J., Robin, N. H., Youngs, E. L., Gadi, I. K., Keitges, E., Jaswaney, V. L., Papenhausen, P. R., et al. (2011) · Human Genetics · doi:10.1007/s00439-011-0970-4 · Cited by 257

Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes

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Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases

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Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity

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