Somatic mutation, genomic variation, and neurological disease

Mutation and cancer: statistical study of retinoblastoma

Knudson, A. G. (1971) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.68.4.820 · Cited by 7,612 · see citing works

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990 · see citing works

Specification of Cerebral Cortical Areas

Rakic, P. (1988) · Science · doi:10.1126/science.3291116 · Cited by 3,127 · see citing works

Tumour evolution inferred by single-cell sequencing

Navin, N., Kendall, J., Troge, J., Andrews, P., Rodgers, L., McIndoo, J., Cook, K., Stepansky, A., Levy, D., Esposito, D., et al. (2011) · Nature · doi:10.1038/nature09807 · Cited by 2,598 · see citing works

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165 · see citing works

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature · doi:10.1038/nature10945 · Cited by 2,084 · see citing works

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature · doi:10.1038/nature11011 · Cited by 1,734 · see citing works

Identification of the Tuberous Sclerosis Gene <i>TSC1</i> on Chromosome 9q34

Slegtenhorst, M. V., Hoogt, R. D., Hermans, C., Nellist, M., Janssen, B., Verhoef, S., Lindhout, D., Ouweland, A. V. D., Halley, D., Young, J., et al. (1997) · Science · doi:10.1126/science.277.5327.805 · Cited by 1,648 · see citing works

Identification and characterization of the tuberous sclerosis gene on chromosome 16

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The COSMIC (Catalogue of Somatic Mutations in Cancer) database and website

Bamford, S., Dawson, E., Forbes, S. A., Clements, J., Pettett, R., Doǧan, A., Flanagan, A. M., Teague, J. W., Futreal, P. A., Stratton, M. R., et al. (2004) · British Journal of Cancer · doi:10.1038/sj.bjc.6601894 · Cited by 1,248 · see citing works

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

O’Roak, B. J., Vives, L., Fu, W., Egertson, J. D., Stanaway, I. B., Phelps, I. G., Carvill, G., Kumar, A., Lee, C., Ankenman, K., et al. (2012) · Science · doi:10.1126/science.1227764 · Cited by 1,240 · 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

Competing waves of oligodendrocytes in the forebrain and postnatal elimination of an embryonic lineage

Kessaris, N., Fogarty, M., Iannarelli, P., Grist, M., Wegner, M., & Richardson, W. D. (2006) · Nature Neuroscience · doi:10.1038/nn1620 · Cited by 1,195 · see citing works

Evolution of the mutation rate

Lynch, M. (2010) · Trends in Genetics · doi:10.1016/j.tig.2010.05.003 · Cited by 1,138 · see citing works

doublecortin, a Brain-Specific Gene Mutated in Human X-Linked Lissencephaly and Double Cortex Syndrome, Encodes a Putative Signaling Protein

Gleeson, J. G., Allen, K. M., Fox, J. W., Lamperti, E. D., Berkovic, S. F., Scheffer, I. E., Cooper, E. C., Dobyns, W. B., Minnerath, S., Ross, M. E., et al. (1998) · Cell · doi:10.1016/s0092-8674(00)80899-5 · Cited by 1,091 · see citing works

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

Shirley, M. D., Tang, H., Gallione, C. J., Baugher, J. D., Frelin, L. P., COHEN, B. A., North, P. E., Marchuk, D. A., Comi, A. M., & Pevsner, J. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1213507 · Cited by 1,085 · see citing works

Somatic mosaicism in neuronal precursor cells mediated by L1 retrotransposition

Muotri, A. R., Chu, V. T., Marchetto, M. C. N., Deng, W., Moran, J. V., & Gage, F. H. (2005) · Nature · doi:10.1038/nature03663 · Cited by 942 · see citing works

A Mosaic Activating Mutation in AKT1 Associated with the Proteus Syndrome

Lindhurst, M. J., Sapp, J. C., Teer, J. K., Johnston, J. J., Finn, E., Peters, K. F., Turner, J. T., Cannons, J. L., Bick, D. P., Blakemore, L. C., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1104017 · Cited by 892 · see citing works

De novo mutations in human genetic disease

Veltman, J. A., & Brunner, H. G. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3241 · Cited by 845 · see citing works

L1 retrotransposition in human neural progenitor cells

Coufal, N. G., Garcia-Perez, J. L., Peng, G. E., Yeo, G. W., Mu, Y., Lovci, M. T., Morell, M., O’Shea, K. S., Moran, J. V., & Gage, F. H. (2009) · Nature · doi:10.1038/nature08248 · Cited by 814 · see citing works

Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti

Smahi, A., Vabres, P., Heuertz, S., Münnich, A., Courtois, G., Yamaoka, S., Israël, A., Heiss, N. S., Klauck, S. M., Kioschis, P., et al. (2000) · Nature · doi:10.1038/35013114 · Cited by 741 · see citing works

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Finding of Rare Disease Genes (FORGE) Canada Consortium, Rivière, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., et al. (2012) · Nature Genetics · doi:10.1038/ng.2331 · Cited by 741 · see citing works

Patterns of neural stem and progenitor cell division may underlie evolutionary cortical expansion

Kriegstein, A., Noctor, S., & Martínez-Cerdeño, V. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn2008 · Cited by 738 · see citing works

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., et al. (2012) · Nature Genetics · doi:10.1038/ng.2329 · Cited by 703 · see citing works

Somatic retrotransposition alters the genetic landscape of the human brain

Baillie, J. K., Barnett, M. W., Upton, K. R., Gerhardt, D. J., Richmond, T. A., De Sapio, F., Brennan, P. M., Rizzu, P., Smith, S., Fell, M., et al. (2011) · Nature · doi:10.1038/nature10531 · Cited by 684 · see citing works

Single-Cell Exome Sequencing Reveals Single-Nucleotide Mutation Characteristics of a Kidney Tumor

Xu, X., Hou, Y., Yin, X., Bao, L., Tang, A., Song, L., Li, F., Tsang, S., Wu, K., Wu, H., et al. (2012) · Cell · doi:10.1016/j.cell.2012.02.025 · Cited by 667 · see citing works

A Role for Intermediate Radial Glia in the Tangential Expansion of the Mammalian Cerebral Cortex

Reillo, I., Romero, C. D. J., García‐Cabezas, M. Á., & Borrell, V. (2010) · Cerebral Cortex · doi:10.1093/cercor/bhq238 · Cited by 630 · see citing works

Widespread Dispersion of Neuronal Clones Across Functional Regions of the Cerebral Cortex

Walsh, C. A., & Cepko, C. L. (1992) · Science · doi:10.1126/science.1734520 · Cited by 613 · see citing works

Detectable clonal mosaicism and its relationship to aging and cancer

Jacobs, K. B., Yeager, M., Zhou, W., Wacholder, S., Wang, Z., Rodriguez-Santiago, B., Hutchinson, A., Deng, X., Liu, C., Horner, M.-J., et al. (2012) · Nature Genetics · doi:10.1038/ng.2270 · Cited by 589 · see citing works

Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

Pansuriya, T. C., van Eijk, R., d'Adamo, P., van Ruler, M. A. J. H., Kuijjer, M. L., Oosting, J., Cleton-Jansen, A.-M., van Oosterwijk, J. G., Verbeke, S. L. J., Meijer, D., et al. (2011) · Nature Genetics · doi:10.1038/ng.1004 · Cited by 559 · see citing works

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

Evrony, G. D., Cai, X., Lee, E., Hills, L. B., Elhosary, P. C., Lehmann, H. S., Parker, J. J., Atabay, K. D., Gilmore, E. C., Poduri, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.09.035 · Cited by 548 · see citing works

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

Michaelson, J. J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., Jian, M., Liu, G., Greer, D., Bhandari, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.11.019 · Cited by 544 · see citing works

Single-Cell Exome Sequencing and Monoclonal Evolution of a JAK2-Negative Myeloproliferative Neoplasm

Hou, Y., Song, L., Zhu, P., Zhang, B., Tao, Y., Xu, X., Li, F., Wu, K., Liang, J., Shao, D., et al. (2012) · Cell · doi:10.1016/j.cell.2012.02.028 · Cited by 541 · see citing works

Somatic Mosaic Activating Mutations in PIK3CA Cause CLOVES Syndrome

Kurek, K. C., Luks, V. L., Ayturk, U. M., Alomari, A. I., Fishman, S. J., Spencer, S. A., Mulliken, J. B., Bowen, M. E., Yamamoto, G. L., Kozakewich, H. P., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.05.006 · Cited by 533 · see citing works

Genome-wide Single-Cell Analysis of Recombination Activity and De Novo Mutation Rates in Human Sperm

Wang, J., Fan, H. C., Behr, B. R., & Quake, S. R. (2012) · Cell · doi:10.1016/j.cell.2012.06.030 · Cited by 511 · see citing works

Somatic activation of AKT3 causes hemispheric developmental brain malformations

Poduri, A., Evrony, G. D., Cai, X., Elhosary, P. C., Beroukhim, R., Lehtinen, M. K., Hills, L. B., Heinzen, E. L., Hill, A., Hill, R. S., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.03.010 · Cited by 478 · see citing works

Cell Migration from the Ganglionic Eminences Is Required for the Development of Hippocampal GABAergic Interneurons

Pleasure, S. J., Anderson, S. A., Hevner, R. F., Bagri, A., Marín, Ó., Lowenstein, D. H., & Rubenstein, J. L. R. (2000) · Neuron · doi:10.1016/s0896-6273(00)00149-5 · Cited by 356 · see citing works

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

Lindhurst, M. J., Parker, V., Payne, F., Sapp, J. C., Rudge, S. A., Harris, J. R., Witkowski, A. M., Zhang, Q., Groeneveld, M. P., Scott, C. E., et al. (2012) · Nature Genetics · doi:10.1038/ng.2332 · Cited by 326 · see citing works

Constitutional Aneuploidy in the Normal Human Brain

Rehen, S. K., Yung, Y. C., McCreight, M. P., Kaushal, D., Yang, A. H., Almeida, B. S. V., Kingsbury, M. A., Cabral, K. M. D. S., McConnell, M. J., Anliker, B., et al. (2005) · Journal of Neuroscience · doi:10.1523/jneurosci.4560-04.2005 · Cited by 320 · see citing works

Probing Meiotic Recombination and Aneuploidy of Single Sperm Cells by Whole-Genome Sequencing

Lü, S., Zong, C. C., Fan, W., Yang, M., Li, J., Chapman, A. R., Zhu, P., Hu, X., Xu, L., Yan, L., et al. (2012) · Science · doi:10.1126/science.1229112 · Cited by 294 · see citing works

Changes in cell-cycle kinetics during the development and evolution of primate neocortex

Kornack, D. R., & RAKIC, P. T. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.3.1242 · Cited by 288 · see citing works

Generation of neuronal variability and complexity

Muotri, A. R., & Gage, F. H. (2006) · Nature · doi:10.1038/nature04959 · Cited by 271 · see citing works

Direct Measure of the De Novo Mutation Rate in Autism and Schizophrenia Cohorts

Awadalla, P., Gauthier, J., Myers, R. A., Casals, F., Hamdan, F. F., Griffing, A. R., Côté, M., Henrion, É., Spiegelman, D., Tarabeux, J., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.07.019 · Cited by 235 · see citing works

Shaping Our Minds: Stem and Progenitor Cell Diversity in the Mammalian Neocortex

Franco, S. J., & Müller, U. (2013) · Neuron · doi:10.1016/j.neuron.2012.12.022 · Cited by 219 · see citing works

Somatic mutations in aging, cancer and neurodegeneration

Kennedy, S. R., Loeb, L. A., & Herr, A. J. (2011) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2011.10.009 · Cited by 216 · see citing works

Somatic gene mutation and human disease other than cancer: An update

Erickson, R. P. (2010) · Mutation Research/Reviews in Mutation Research · doi:10.1016/j.mrrev.2010.04.002 · Cited by 212 · see citing works

Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions

Niida, Y., Stemmer-Rachamimov, A. O., Logrip, M. L., Tapon, D., Perez, R., Kwiatkowski, D. J., Sims, K. B., MacCollin, M., Louis, D. N., & Ramesh, V. (2001) · The American Journal of Human Genetics · doi:10.1086/321972 · Cited by 205 · see citing works

An Activating Mutation of AKT2 and Human Hypoglycemia

Hussain, K., Challis, B., Rocha, N., Payne, F., Minic, M., Thompson, A., Daly, A., Scott, C. L., Harris, J. R., Smillie, B. J. L., et al. (2011) · Science · doi:10.1126/science.1210878 · Cited by 178 · see citing works

Genomic Variability within an Organism Exposes Its Cell Lineage Tree

Frumkin, D., Wasserstrom, A., Kaplan, S., Feige, U., & Shapiro, E. Y. (2005) · PLoS Computational Biology · doi:10.1371/journal.pcbi.0010050 · Cited by 155 · see citing works

Extensive genetic variation in somatic human tissues

O’Huallachain, M., Karczewski, K. J., Weissman, S. M., Urban, A. E., & Snyder, M. P. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1213736109 · Cited by 153 · see citing works

Somatic and Germline Mosaic Mutations in the doublecortin Gene Are Associated with Variable Phenotypes

Gleeson, J. G., Minnerath, S., Kuzniecky, R., Dobyns, W. B., Young, I. D., Ross, M. E., & Walsh, C. A. (2000) · The American Journal of Human Genetics · doi:10.1086/303043 · Cited by 129 · see citing works

New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum

Bahi‐Buisson, N., Souville, I., Fourniol, F. J., et al. (2013) · Brain · doi:10.1093/brain/aws323 · Cited by 126 · see citing works

Mosaic mutations of the LIS1 gene cause subcortical band heterotopia

Sicca, F., Kelemen, A., Genton, P., Das, S., Mei, D., Moro, F., Dobyns, W. B., & Guerrini, R. (2003) · Neurology · doi:10.1212/wnl.61.8.1042 · Cited by 126 · see citing works

Analysis of TSC Cortical Tubers by Deep Sequencing of TSC1, TSC2 and KRAS Demonstrates that Small Second‐Hit Mutations in these Genes are Rare Events

Qin, W., Chan, J. A.-W., Vinters, H. V., Mathern, G. W., Franz, D. N., Taillon, B. E., Bouffard, P., & Kwiatkowski, D. J. (2010) · Brain Pathology · doi:10.1111/j.1750-3639.2010.00416.x · Cited by 121 · see citing works

Somatic gene mutation and human disease other than cancer

Erickson, R. P. (2003) · Mutation Research/Reviews in Mutation Research · doi:10.1016/s1383-5742(03)00010-3 · Cited by 113 · see citing works

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

Gennaro, E., Santorelli, F. M., Bertini, E., Buti, D., Gaggero, R., Gobbi, G., Lini, M., Granata, T., Freri, E., Parmeggiani, A., et al. (2006) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2005.12.209 · Cited by 108 · see citing works

Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations

Vadlamudi, L., Dibbens, L. M., Lawrence, K. M., Iona, X., McMahon, J. M., Murrell, W. G., Mackay‐Sim, A., Scheffer, I. E., & Berkovic, S. F. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa0910752 · Cited by 105 · see citing works

Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease

Beck, J. A. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh134 · Cited by 102 · see citing works

Coincident Generation of Pyramidal Neurons and Protoplasmic Astrocytes in Neocortical Columns

Magavi, S. S. P., Friedmann, D., Banks, G. P., Stolfi, A., & Lois, C. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.3560-11.2012 · Cited by 94 · see citing works

Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy

Topçu, M., Akyerli, C. B., Sayi‐Yazgan, A., Törüner, G., Koçoğlu, S. R., Cimbiş, M., & Özçelık, T. (2002) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200745 · Cited by 92 · see citing works

Clonal dispersion and evidence for asymmetric cell division in ferret cortex

Reid, C. B., Tavazoie, S. F., & Walsh, C. A. (1997) · Development · doi:10.1242/dev.124.12.2441 · Cited by 90 · see citing works

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system

Montermini, L., Kish, S. J., Jiralerspong, S., Lamarche, J. B., & Pandolfo, M. (1997) · Neurology · doi:10.1212/wnl.49.2.606 · Cited by 86 · see citing works

Phosphorylation of Tuberin as a Novel Mechanism for Somatic Inactivation of the Tuberous Sclerosis Complex Proteins in Brain Lesions

Han, S., Santos, T. M., Puga, A. C., Roy, J., Thiele, E. A., McCollin, M., Stemmer-Rachamimov, A. O., & Ramesh, V. (2004) · Cancer Research · doi:10.1158/0008-5472.can-03-3277 · Cited by 84 · see citing works

Understanding the mechanism(s) of mosaic trisomy 21 by using DNA polymorphism analysis

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Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOH

Garcia-Linares, C., Fernández‐Rodríguez, J., Terribas, E., Mercadé, J., Pros, E., Benito‐Aracil, L., Benavente, Y., Capellá, G., Ravella, A., Blanco, I., et al. (2010) · Human Mutation · doi:10.1002/humu.21387 · Cited by 83 · see citing works

Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)

Ueno, S., Kondoh, K., Komure, Y., et al. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.4.663 · Cited by 79 · see citing works

Continuous and Periodic Expansion of CAG Repeats in Huntington's Disease R6/1 Mice

Møllersen, L., Rowe, A. D., Larsen, E., Rognes, T., & Klungland, A. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1001242 · Cited by 69 · see citing works

The Radiological Features of Hemimegalencephaly Including Three Cases Associated with Proteus Syndrome

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Coexistence of Widespread Clones and Large Radial Clones in Early Embryonic Ferret Cortex

Ware, M. L. (1999) · Cerebral Cortex · doi:10.1093/cercor/9.6.636 · Cited by 62 · see citing works

Single cell analysis of CAG repeat in brains of dentatorubral-pallidoluysian atrophy (DRPLA)

Hashida, H., Goto, J., Suzuki, T., Jeong, S.-Y., Masuda, N., Ooie, T., Tachiiri, Y., Tsuchiya, H., & Kanazawa, I. (2001) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(01)00596-2 · Cited by 46 · see citing works

Somatic mosaicism in a case of apparently sporadic Creutzfeldt‐Jakob disease carrying a de novo D178N mutation in the PRNP gene

Alzualde, A., Moreno, F., Martínez‐Lage, P., et al. (2010) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31099 · Cited by 39 · see citing works

On the variable effect of mosaic normal/balanced chromosomal rearrangements in man

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Single Cell Lineage Analysis in Human Focal Cortical Dysplasia

Hua, Y. (2003) · Cerebral Cortex · doi:10.1093/cercor/13.6.693 · Cited by 36 · see citing works

The expanded CAG repeat associated with juvenile Huntington disease shows a common origin of most or all neurons and glia in human cerebrum

Kahlem, P., & Djian, P. (2000) · Neuroscience Letters · doi:10.1016/s0304-3940(00)01029-6 · Cited by 29 · see citing works

Somatic mosaicism for Y120X mutation in the MECP2 gene causes atypical Rett syndrome in a male

Pieras, J. I., Cabello, B. M., Borrego, S., et al. (2010) · Brain and Development · doi:10.1016/j.braindev.2010.09.012 · Cited by 28 · see citing works

Somatic Mosaicism of the Expanded CAG Trinucleotide Repeat in mRNAs for the Responsible Gene of Machado-Joseph Disease (MJD), Dentatorubral-Pallidoluysian Atrophy (DRPLA), and Spinal and Bulbar Muscular Atrophy (SBMA)

Ito, Y., Tanaka, F., Yamamoto, M., Doyu, M., Nagamatsu, M., Riku, S., Mitsuma, T., & Sobue, G. (2004) · Neurochemical Research · doi:10.1023/a:1022441101801 · Cited by 26 · see citing works

Hemimegalencephaly and tuberous sclerosis complex

Cartwright, M. S., McCarthy, S. C., & Roach, E. S. (2005) · Neurology · doi:10.1212/01.wnl.0000154465.87255.78 · Cited by 26 · see citing works

Mosaic tetrasomy 8p in two patients: Clinical data and review of the literature

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Mosaic trisomy 17: Variable clinical and cytogenetic presentation

Daber, R. D., Chapman, K. A., Ruchelli, E. D., et al. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34172 · Cited by 20 · see citing works

Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes

Hellenbroich, Y., SCHWINGER, E., & Zühlke, C. (2001) · Acta Neurologica Scandinavica · doi:10.1034/j.1600-0404.2001.103003188.x · Cited by 20 · see citing works

Barraquer-Simons syndrome (with sensorineural deafness): A contribution to the differential diagnosis of lipodystrophy syndromes

Spranger, S., Spranger, M., Tasman, A., Reith, W., Voigtländer, T., & Voigtländer, V. (1997) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19970905)71:4 · Cited by 19 · see citing works

Mosaic trisomy 9 and lobar holoprosencephaly

Gérard‐Blanluet, M., Danan, C., Sinico, M., et al. (2002) · American Journal of Medical Genetics · doi:10.1002/ajmg.10481 · Cited by 19 · see citing works

Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature

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Mosaic trisomy 1q: The longest surviving case

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