Genomics, Intellectual Disability, and Autism

Next-generation DNA sequencing

Shendure, J., & Ji, H. (2008) · Nature Biotechnology · doi:10.1038/nbt1486 · Cited by 4,509 · see citing works

Global variation in copy number in the human genome

Redon, R., Ishikawa, S., Fitch, K. R., Feuk, L., Perry, G. H., Andrews, T. D., Fiegler, H., Shapero, M. H., Carson, A. R., Chen, W., et al. (2006) · Nature · doi:10.1038/nature05329 · Cited by 4,276 · see citing works

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 · see citing works

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

Miller, D. T., Adam, M. P., Aradhya, S., Biesecker, L. G., Brothman, A. R., Carter, N. P., Church, D. M., Crolla, J. A., Eichler, E. E., Epstein, C. J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.04.006 · Cited by 2,882 · see citing works

Strong association of de novo copy number mutations with autism

Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795 · see citing works

Large-scale copy number polymorphism in the human genome

Sebat, J., Lakshmi, B., Troge, J., Alexander, J., Young, J., Lundin, P., Månér, S., Massa, H., Walker, M., Chi, M., et al. (2004) · Science · doi:10.1126/science.1098918 · Cited by 2,557 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

Large recurrent microdeletions associated with schizophrenia.

GROUP, Stefansson, H., Rujescu, D., Cichon, S., Pietiläinen, O. P. H., Ingason, A., Steinberg, S., Fossdal, R., Sigurdsson, E., Sigmundsson, T., et al. (2008) · Nature · doi:10.1038/nature07229 · Cited by 1,745 · see citing works

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 · see citing works

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 · see citing works

Rare chromosomal deletions and duplications increase risk of schizophrenia

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

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 · see citing works

A copy number variation morbidity map of developmental delay

Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., et al. (2011) · Nature Genetics · doi:10.1038/ng.909 · Cited by 1,351 · see citing works

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Ng, S. B. H., Bigham, A. W., Buckingham, K. J., Hannibal, M., McMillin, M. J., Gildersleeve, H. I. S., Beck, A. E., Tabor, H. K., Cooper, G. M., Mefford, H. C., et al. (2010) · Nature Genetics · doi:10.1038/ng.646 · Cited by 1,349 · see citing works

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 1,327 · see citing works

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 · see citing works

Pervasive Developmental Disorders in preschool children

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

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature · doi:10.1038/nature10423 · Cited by 965 · see citing works

A de novo paradigm for mental retardation.

Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., et al. (2010) · Nature Genetics · doi:10.1038/ng.712 · Cited by 852 · see citing works

Untitled work

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

Mefford, H. C., Sharp, A. J., Baker, C., Itsara, A., Jiang, Z., Buysse, K., Huang, S., Maloney, V. K., Crolla, J. A., Baralle, D., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0805384 · Cited by 804 · see citing works

Rate, molecular spectrum, and consequences of human mutation

Lynch, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0912629107 · Cited by 792 · see citing works

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 · see citing works

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline <i>PTEN</i> 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 · see citing works

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 · see citing works

Microduplications of 16p11.2 are associated with schizophrenia

Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics · doi:10.1038/ng.474 · Cited by 711 · see citing works

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 · see citing works

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 665 · see citing works

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 · see citing works

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

Brunetti-Pierri, N., Berg, J. S., Scaglia, F., Belmont, J., Bacino, C. A., Sahoo, T., Lalani, S. R., Graham, B., Lee, B., Shinawi, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.279 · Cited by 625 · see citing works

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 619 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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

Mefford, H. C., Muhle, H., Ostertag, P., von Spiczak, S., Buysse, K., Baker, C., Franke, A., Malafosse, A., Genton, P., Thomas, P., et al. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000962 · Cited by 474 · see citing works

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 · see citing works

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 458 · see citing works

Subtle chromosomal rearrangements in children with unexplained mental retardation

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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 · see citing works

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 440 · see citing works

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 · see citing works

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

Ravnan, J. B., Tepperberg, J. H., Papenhausen, P., Lamb, A. N., Hedrick, J., Eash, D., Ledbetter, D. H., & Martin, C. L. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.036350 · Cited by 412 · see citing works

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

Smith, A. C. M., McGavran, L., Robinson, J., Waldstein, G., Macfarlane, J., Zonona, J., Reiss, J. A., Lahr, M. B., Allen, L., Magenis, E., et al. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320240303 · Cited by 400 · see citing works

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 398 · see citing works

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 · see citing works

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

Shaw-Smith, C. J., Pittman, A. M., Willatt, L. R., Martin, H., Rickman, L., Gribble, S. M., Curley, R., Cumming, S., Dunn, C. A., Kalaitzopoulos, D. R., et al. (2006) · Nature Genetics · doi:10.1038/ng1858 · Cited by 368 · see citing works

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

Lionel, A. C., Crosbie, J., Barbosa, N., Goodale, T., Thiruvahindrapuram, B., Rickaby, J., Gazzellone, M. J., Carson, A. R., Howe, J., Wang, Z., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002464 · Cited by 366 · see citing works

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 365 · see citing works

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 356 · see citing works

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 354 · see citing works

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 344 · see citing works

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

Moreno-De-Luca, D., Mulle, J. G., Kaminsky, E. B., Sanders, S. J., Myers, S. M., Adam, M. P., Pakula, A. T., Eisenhauer, N. J., Uhas, K., Weik, L., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.004 · Cited by 324 · see citing works

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 317 · see citing works

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

Butler, M. G., Meaney, F. J., Palmer, C. G., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320230307 · Cited by 316 · see citing works

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 · see citing works

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 297 · see citing works

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

Willatt, L. R., Cox, J. J., Barber, J. C. K., Cabanas, E. D., Collins, A., Donnai, D., FitzPatrick, D. R., Maher, E., Martin, H., Parnau, J., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/431653 · Cited by 290 · see citing works

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

Ullmann, R., TURNER, G. M., Kirchhoff, M., Chen, W., Tonge, B. J., Rosenberg, C., Field, M., Vianna‐Morgante, A. M., Christie, L., Krepischi, A. C. V., et al. (2007) · Human Mutation · doi:10.1002/humu.20546 · Cited by 287 · see citing works

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

Bijlsma, E. K., Gijsbers, A. C. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., Fransen van de Putte, D. E., Anderlid, B.-M., Lundin, J., Lapunzina, P., Pérez Jurado, L. A., Delle Chiaie, B., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.006 · Cited by 282 · see citing works

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 263 · see citing works

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

Ben-Shachar, S., Lanpher, B., German, J. R., Qasaymeh, M., Potocki, L., Nagamani, S. C. S., Franco, L. M., Malphrus, A., Bottenfield, G. W., Spence, J. E., et al. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.064378 · Cited by 261 · see citing works

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

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

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