New developments in Smith-Magenis syndrome (del 17p11.2)

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

Lupski, J. R., Montes‐de‐Oca‐Luna, R., Slaugenhaupt, S., Pentao, L., Guzzetta, V., Trask, B. J., Cárdenas, O. S., Barker, D. F., Killian, J. M., Garcia, C. A., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90613-4 · Cited by 1,327 · see citing works

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

Chance, P. F., Alderson, M. K., Leppig, K. A., Lensch, M. W., Matsunami, N., Smith, B. T., Swanson, P. D., Odelberg, S. J., Distèche, C. M., & Bird, T. D. (1993) · Cell · doi:10.1016/0092-8674(93)90058-x · Cited by 804 · see citing works

TACI is mutant in common variable immunodeficiency and IgA deficiency

Castigli, E., Wilson, S. A., Garibyan, L., Rachid, R. A., Bonilla, F. A., Schneider, L. C., & Geha, R. S. (2005) · Nature Genetics · doi:10.1038/ng1601 · Cited by 699 · see citing works

Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling

Baba, M., Hong, S., Sharma, N. D., Warren, M. B., Nickerson, M. L., Iwamatsu, A., Esposito, D., Gillette, W., Hopkins, R. F., Hartley, J. L., et al. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0603781103 · Cited by 491 · 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

Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome

Chen, K., Manian, P., Koeuth, T., Potocki, L., Zhao, Q., Chinault, A. C., Lee, C. C., & Lupski, J. R. (1997) · Nature Genetics · doi:10.1038/ng1097-154 · Cited by 387 · see citing works

Mutations in RAI1 associated with Smith-Magenis syndrome

Slager, R. E., Newton, T. L., Vlangos, C. N., Finucane, B., & Elsea, S. H. (2003) · Nature Genetics · doi:10.1038/ng1126 · Cited by 362 · see citing works

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Greenberg, F., Guzzetta, de Oca-Luna, R. M., Magenis, R. E., Smith, A. C., Richter, S. F., Kondo, I., Dobyns, W. B., Patel, P. I., & Lupski (1991) · PubMed · Cited by 340 · see citing works

Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome

Potocki, L., Glaze, D., Tan, D.-X., Park, S.-S., Kashork, C. D., Shaffer, L. G., Reiter, R. J., & Lupski, J. R. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.6.428 · Cited by 244 · see citing works

Polymorphism of the PEMT gene and susceptibility to nonalcoholic fatty liver disease (NAFLD)

Song, J., Costa, K. A. D., Fischer, L. M., Kohlmeier, M., Kwock, L., Wang, S., & Zeisel, S. H. (2005) · The FASEB Journal · doi:10.1096/fj.04-3580com · Cited by 239 · see citing works

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17

Friedman, T. B., Liang, Y., Weber, J. L., Hinnant, J. T., Barber, T. D., Winata, S., Arhya, I. N., & Asher, J. H. (1995) · Nature Genetics · doi:10.1038/ng0195-86 · Cited by 222 · see citing works

Clinical and genetic studies of Birt-Hogg-Dubé syndrome

Khoo, S. K., Giraud, S., Kahnoski, K., Chen, J., Motorna, O., Nickolov, R., Binet, O., Lambert, D., Friedel, J., Lévy, R., et al. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.12.906 · Cited by 214 · see citing works

Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome

Leersnyder, H. D., de Blois, M., Claustrat, B., Romana, S. P., Albrecht, U., von Kleist-Retzow, J., Delobel, B., Viot, G., Lyonnet, S., Vekemans, M. J. J., et al. (2001) · The Journal of Pediatrics · doi:10.1067/mpd.2001.115018 · Cited by 198 · see citing works

Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)

Gropman, A. L., Duncan, W. C., & Smith, A. C. M. (2006) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2005.08.018 · Cited by 155 · see citing works

Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith–Magenis syndrome

Bouras, N., Dykens, E. M., & Smith, A. C. M. (1998) · Journal of Intellectual Disability Research · doi:10.1046/j.1365-2788.1998.4260481.x · Cited by 155 · see citing works

Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Girirajan, S., Vlangos, C. N., Szomju, B. B., Edelman, E. A., Trevors, C. D., Dupuis, L., Nezarati, M. M., Bunyan, D. J., & Elsea, S. H. (2006) · Genetics in Medicine · doi:10.1097/01.gim.0000228215.32110.89 · Cited by 154 · see citing works

Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome

Liburd, N., Ghosh, M., Riazuddin, S., Naz, S., Khan, S., Ahmed, Z. M., Riazuddin, S. A., Liang, Y., Menon, P. S. N., Smith, T. N., et al. (2001) · Human Genetics · doi:10.1007/s004390100604 · Cited by 137 · see citing works

A 4-bp Deletion in the Birt-Hogg-Dubé Gene (FLCN) Causes Dominantly Inherited Spontaneous Pneumothorax

Painter, J. N., Tapanainen, H., Somer, M., Tukiainen, P., & Aittomäki, K. (2005) · The American Journal of Human Genetics · doi:10.1086/428455 · Cited by 129 · see citing works

Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.

Juyal, R. C., Figuera, L. E., Hauge, X., Elsea, S. H., Lupski, J. R., Greenberg, F., Baldini, A., & Patel, P. I. (1996) · PubMed Central · Cited by 128 · see citing works

Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome

Stratton, R. F., Dobyns, W. B., Greenberg, F., DeSana, J. B., Moore, C. M., Fidone, G. S., Runge, G. H., Feldman, P., Sekhon, G. S., Pauli, R. M., et al. (1986) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320240305 · Cited by 128 · see citing works

Role of Religion in the Lives of Latino Families of Young Children With Developmental Delays

Skinner, D., Correa, V. I., Skinner, M. L., & Bailey, D. B. (2001) · American Journal on Mental Retardation · doi:10.1352/0895-8017(2001)106 · Cited by 124 · see citing works

Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

Bi, W., Park, S. S., Shaw, C. J., Withers, M. A., Patel, P. I., & Lupski, J. R. (2003) · The American Journal of Human Genetics · doi:10.1086/379979 · Cited by 122 · see citing works

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Girirajan, S., Elsas, L. J., Devriendt, K., & Elsea, S. H. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.031211 · Cited by 122 · see citing works

Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]

Potocki, L., Shaw, C. J., Stankiewicz, P., & Lupski, J. R. (2003) · Genetics in Medicine · doi:10.1097/01.gim.0000095625.14160.ab · Cited by 114 · see citing works

Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome

Bi, W., Saifi, G. M., Shaw, C. J., Walz, K., Fonseca, P., Wilson, M., Potocki, L., & Lupski, J. R. (2004) · Human Genetics · doi:10.1007/s00439-004-1187-6 · Cited by 110 · see citing works

Brief Report: Cognitive and Behavioral Profiles in Persons with Smith-Magenis Syndrome

Dykens, E. M., Finucane, B. M., & Gayley, C. (1997) · Journal of Autism and Developmental Disorders · doi:10.1023/a:1025800126086 · Cited by 109 · see citing works

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith–Magenis syndrome

Bi, W., Ohyama, T., Nakamura, H., Yan, J., Visvanathan, J., Justice, M. J., & Lupski, J. R. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi085 · Cited by 97 · see citing works

CAG repeat length in RAI1 is associated with age at onset variability in spinocerebellar ataxia type 2 (SCA2).

Hayes, S., Turecki, G., Brisebois, K., Lopes-Cendes, Í., Gaspar, C., Riess, O., Ranum, L., Pulst, S., & Rouleau, G. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.12.1753 · Cited by 96 · see citing works

Clinical, cytogenetic, and molecular evidence for an infant with Smith–Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion

Zori, R. T., Lupski, J. R., Zhang, H., Greenberg, F., Killian, J. M., Gray, B. A., Driscoll, D. J., Patel, P. I., & Zackowski, J. L. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320470414 · Cited by 89 · see citing works

Refinement of the Smith–Magenis syndrome critical region to ∼950kb and assessment of 17p11.2 deletions. Are all deletions created equally?

Vlangos, C. N. (2003) · Molecular Genetics and Metabolism · doi:10.1016/s1096-7192(03)00048-9 · Cited by 86 · see citing works

Adaptive and Maladaptive Behavior in Children with Smith-Magenis Syndrome

Martin, S. C., Wolters, P. L., & Smith, A. C. M. (2006) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-006-0093-2 · Cited by 74 · see citing works

Hypercholesterolemia in children with Smith-Magenis syndrome: del (17)(p11.2p11.2)

Smith, A. C. M., Gropman, A. L., Wilson, J., Göker-Alpan, Ö., Elsea, S. H., Blancato, J. K., Lupski, J. R., & Potocki, L. (2002) · Genetics in Medicine · doi:10.1097/00125817-200205000-00004 · Cited by 70 · see citing works

Cognitive and Adaptive Behavior Profiles in Smith-Magenis Syndrome

Madduri, N., Peters, S. U., Voigt, R. G., Llorente, A. M., Lupski, J. R., & Potocki, L. (2006) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/00004703-200606000-00002 · Cited by 63 · see citing works

Abilities and attainment in Smith-Magenis syndrome

Udwin, O., Webber, C., & Horn, I. (2001) · Developmental Medicine & Child Neurology · doi:10.1017/s0012162201001499 · Cited by 63 · see citing works

Cloning of a retinoic acid-induced gene, GT1, in the embryonal carcinoma cell line P19: neuron-specific expression in the mouse brain

Imai, Y., Suzuki, Y., Matsui, T., Tohyama, M., Wanaka, A., & Takagi, T. (1995) · Molecular Brain Research · doi:10.1016/0169-328x(95)00020-s · Cited by 61 · see citing works

The Nuclear Factor SPBP Contains Different Functional Domains and Stimulates the Activity of Various Transcriptional Activators

Rekdal, C., Sjøttem, E., & Johansen, T. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m006978200 · Cited by 59 · see citing works

Molecular cloning and characterization of human RAI1, a gene associated with schizophrenia

Toulouse, A., Rochefort, D. L., Roussel, J., Joober, R., & Rouleau, G. A. (2003) · Genomics · doi:10.1016/s0888-7543(03)00101-0 · Cited by 59 · see citing works

Craniofacial and dental phenotype of Smith–Magenis syndrome

Tomona, N., Smith, A. C. M., Guadagnini, J.-P., & Hart, T. C. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31371 · Cited by 58 · see citing works

Eye abnormalities in the Smith‐Magenis contiguous gene deletion syndrome

Finucane, B. M., Jaeger, E. R., Kurtz, M. B., Weinstein, M. E., & Scott, C. I. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320450409 · Cited by 56 · see citing works

TACI mutation in common variable immunodeficiency and IgA deficiency

Rachid, R. A., Castigli, E., Geha, R. S., & Bonilla, F. A. (2006) · Current Allergy and Asthma Reports · doi:10.1007/s11882-996-0004-9 · Cited by 54 · see citing works

RAI1 point mutations, CAG repeat variation, and SNP analysis in non‐deletion Smith–Magenis syndrome

Bi, W., Saifi, G. M., Girirajan, S., Shi, X., Szomju, B. B., Firth, H. V., Magenis, R. E., Potocki, L., Elsea, S. H., & Lupski, J. R. (2006) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31510 · Cited by 50 · see citing works

Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients

Trask, B. J., Mefford, H. C., van den Engh, G., Massa, H. F., Juyal, R. C., Potocki, L., Finucane, B. M., Abuelo, D. N., Witt, D. R., Magenis, E., et al. (1996) · Human Genetics · doi:10.1007/s004390050291 · Cited by 50 · see citing works

RAI1 is a novel polyglutamine encoding gene that is deleted in Smith–Magenis syndrome patients

Seranski, P., Hoff, C., Radelof, U., Hennig, S., Reinhardt, R., Schwartz, C. E., Heiss, N. S., & Poustka, A. (2001) · Gene · doi:10.1016/s0378-1119(01)00415-2 · Cited by 48 · see citing works

Testing for linkage of eye tracking dysfunction and schizophrenia to markers on chromosomes 6, 8, 9, 20, and 22 in families multiply affected with schizophrenia

Arolt, V., Lencer, R., Purmann, S., Sch�rmann, M., M�ller-Myhsok, B., Krecker, K., & SCHWINGER, E. (1999) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19991215)88:6 · Cited by 46 · see citing works

Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith–Magenis syndrome should contain the RAI1 gene

Vlangos, C. N., Wilson, M., Blancato, J. K., Smith, A. C. M., & Elsea, S. H. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30461 · Cited by 45 · see citing works

Ophthalmic Manifestations of Smith-Magenis Syndrome

Chen, R. M., Lupski, J. R., Greenberg, F., & Lewis, R. A. (1996) · Ophthalmology · doi:10.1016/s0161-6420(96)30563-0 · Cited by 44 · see citing works

Overview of Smith-Magenis syndrome.

Smith, A. C. M., Magenis, R. E., & Elsea, S. H. (2005) · PubMed · Cited by 42 · see citing works

Anatomical and functional brain imaging evidence of lenticulo-insular anomalies in Smith Magenis syndrome

Boddaert, N., Leersnyder, H. D., Bourgeois, M., Münnich, A., Brunelle, F., & Zilbovicius, M. (2004) · NeuroImage · doi:10.1016/j.neuroimage.2003.10.040 · Cited by 38 · see citing works

Definition of the critical interval for Smith-Magenis syndrome

Elsea, S. H., Purandare, S. M., Adell, R. A., Juyal, R. C., Davis, J. G., Finucane, B. M., Magenis, R. E., & Patel, P. I. (2008) · Cytogenetics and Cell Genetics · doi:10.1159/000134742 · Cited by 37 · see citing works

Genomic organisation of the ∼1.5 Mb Smith-Magenis syndrome critical interval: Transcription map, genomic contig, and candidate gene analysis

Lucas, R. E., Vlangos, C. N., Das, P. K., Patel, P. I., & Elsea, S. H. (2001) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200734 · Cited by 33 · see citing works

Sjögren-Larsson syndrome: Seven novel mutations in the fatty aldehyde dehydrogenase gene ALDH3A2

Carney, G., Wei, S. J., & Rizzo, W. B. (2004) · Human Mutation · doi:10.1002/humu.9262 · Cited by 30 · see citing works

Smith‐Magenis syndrome deletion: A case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization

Juyal, R. C., Greenberg, F., Mengden, G. A., Lupski, J. R., Trask, B. J., van den Engh, G., Lindsay, E. A., Christy, H., Chen, K., Baldini, A., et al. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320580317 · Cited by 27 · see citing works

Polyglutamine-containing proteins in schizophrenia

Joober, R., Benkelfat, C., Jannatipour, M., Turecki, G., Lal, S., Mandel, J., Bloom, D. E., Lalonde, P., Lopes‐Cendes, Í., Fortin, D., et al. (1999) · Molecular Psychiatry · doi:10.1038/sj.mp.4000480 · Cited by 22 · see citing works

Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith‐Magenis syndrome patient

Juyal, R. C., Finucane, B. M., Shaffer, L. G., Lupski, J. R., Greenberg, F., Scott, C. I., Baldini, A., & Patel, P. I. (1995) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320590332 · Cited by 21 · see citing works

A large interstitial deletion of 17p13.1p11.2 involving the Smith–Magenis chromosome region in a girl with multiple congenital anomalies

Yamamoto, T., Ueda, H., Kawataki, M., Yamanaka, M., Asou, T., Kondoh, Y., Harada, N., Matsumoto, N., & Kurosawa, K. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31055 · Cited by 20 · see citing works

Initial results of a genome survey for novel alzheimer's disease risk genes: Association with a locus on the X chromosome

Zubenko, G. S., Stiffler, J. S., Hughes, H. B., Hurtt, M. R., & Kaplan, B. B. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980328)81:2 · Cited by 18 · see citing works

Diagnosis of Birt-Hogg-Dube Syndrome in a Patient With Spontaneous Pneumothorax

Pittet, O., Christodoulou, M., Staneczek, O., & Ris, H. (2006) · The Annals of Thoracic Surgery · doi:10.1016/j.athoracsur.2005.11.042 · Cited by 16 · see citing works

[Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome].

Leersnyder, H. D., de Blois, M.-C., Bresson, J., Sidi, D., Claustrat, B., & Münnich, A. (2003) · PubMed · Cited by 15 · see citing works

Further delineation of the acro-renal-ocular syndrome

(1996) · Pure Amsterdam UMC · doi:10.1002/(sici)1096-8628(19960329)62:3 · Cited by 1 · see citing works

Smith-Magenis Syndrome

(2006) · Humana Press eBooks · doi:10.1007/978-1-60327-161-5_172 · Cited by 1 · see citing works

Rhythms of life: circadian disruption and brain disorders across the lifespan

Logan, R. W., & McClung, C. A. (2019) · Nature Reviews Neuroscience · doi:10.1038/s41583-018-0088-y · Cited by 713 · see citing works

Psychosis and autism as diametrical disorders of the social brain

Crespi, B. J., & Badcock, C. R. (2008) · Behavioral and Brain Sciences · doi:10.1017/s0140525x08004214 · Cited by 618 · see citing works

Smith–Magenis syndrome

Elsea, S. H., & Girirajan, S. (2008) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5202009 · Cited by 241 · see citing works

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models

Ricard, G., Molina, J., Chrast, J., Gu, W., Gheldof, N., Pradervand, S., Schütz, F., Young, J. I., Lupski, J. R., Reymond, A., et al. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000543 · Cited by 147 · see citing works

Clinical Utility of Contemporary Molecular Cytogenetics

Bejjani, B. A., & Shaffer, L. G. (2008) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164207 · Cited by 123 · see citing works

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Williams, S. R., Zies, D., Mullegama, S. V., Grotewiel, M. S., & Elsea, S. H. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.04.013 · Cited by 115 · see citing works

Review of disrupted sleep patterns in Smith–Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion

Boudreau, E. A., Johnson, K. P., Jackman, A. R., Blancato, J., Huizing, M., Bendavid, C., Jones, M., Chandrasekharappa, S. C., Lewy, A. J., Smith, A. C. M., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32846 · Cited by 92 · see citing works

Clinical Uses of Melatonin in Pediatrics

Sánchez‐Barceló, E. J., Mediavilla, M. D., & Reiter, R. J. (2011) · International Journal of Pediatrics · doi:10.1155/2011/892624 · Cited by 86 · see citing works

Trans-Acting Epigenetic Effects of Chromosomal Aneuploidies: Lessons From Down Syndrome and Mouse Models

Do, C., Xing, Z., Yu, Y. E., & Tycko, B. (2016) · Epigenomics · doi:10.2217/epi-2016-0138 · Cited by 65 · see citing works

Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome

Wolters, P. L., Gropman, A. L., Martin, S. C., Smith, M. R., Hildenbrand, H. L., Brewer, C. C., & Smith, A. C. M. (2009) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2009.04.015 · Cited by 62 · see citing works

Comparative analysis of copy number detection by whole-genome BAC and oligonucleotide array CGH

Neill, N. J., Torchia, B. S., Bejjani, B. A., Shaffer, L. G., & Ballif, B. C. (2010) · Molecular Cytogenetics · doi:10.1186/1755-8166-3-11 · Cited by 62 · see citing works

Neurodevelopmental Disorders Associated with Abnormal Gene Dosage: Smith–Magenis and Potocki–Lupski Syndromes

Neira‐Fresneda, J., & Potocki, L. (2015) · Journal of Pediatric Genetics · doi:10.1055/s-0035-1564443 · Cited by 61 · see citing works

Smith–Magenis syndrome: haploinsufficiency ofRAI1results in altered gene regulation in neurological and metabolic pathways

Elsea, S. H., & Williams, S. R. (2011) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399411001827 · Cited by 58 · see citing works

Individuals with Smith-Magenis syndrome display profound neurodevelopmental behavioral deficiencies and exhibit food-related behaviors equivalent to Prader-Willi syndrome

Alaimo, J. T., Barton, L., Mullegama, S. V., Wills, R. D., Foster, R. H., & Elsea, S. H. (2015) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2015.08.011 · Cited by 45 · see citing works

Causal Models of Clinically Significant Behaviors in Angelman, Cornelia de Lange, Prader–Willi and Smith–Magenis Syndromes

Oliver, C., Adams, D., Allen, D., Bull, L., Heald, M., Moss, J. F., Wilde, L., & Woodcock, K. A. (2013) · International review of research in developmental disabilities · doi:10.1016/b978-0-12-401662-0.00006-3 · Cited by 44 · see citing works

Aging in rare intellectual disability syndromes

Dykens, E. M. (2013) · Developmental Disabilities Research Reviews · doi:10.1002/ddrr.1130 · Cited by 45 · see citing works

Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion

Vilboux, T., Ciccone, C., Blancato, J. K., Cox, G. F., Deshpande, C., Introne, W. J., Gahl, W. A., Smith, A. C. M., & Huizing, M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0022861 · Cited by 44 · see citing works

Behavior and sleep disturbance in Smith–Magenis syndrome

Shayota, B. J., & Elsea, S. H. (2018) · Current Opinion in Psychiatry · doi:10.1097/yco.0000000000000474 · Cited by 40 · see citing works

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome

Carmona-Mora, P., Canales, C. P., Cao, L., Perez, I. C., Srivastava, A. K., Young, J. I., & Walz, K. (2012) · PLoS ONE · doi:10.1371/journal.pone.0045155 · Cited by 39 · see citing works

ORIGINAL ARTICLE: Genomic sister‐disorders of neurodevelopment: an evolutionary approach

Crespi, B. J., Summers, K., & Dorus, S. (2009) · Evolutionary Applications · doi:10.1111/j.1752-4571.2008.00056.x · Cited by 35 · see citing works

Behavioral phenotype in the 9q subtelomeric deletion syndrome: A report about two adult patients

Verhoeven, W. M. A., Kleefstra, T., & Egger, J. I. M. (2009) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31015 · Cited by 33 · see citing works

Actin binding proteins in blood–testis barrier function

Li, N., Mruk, D. D., & Cheng, C. Y. (2015) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0000000000000155 · Cited by 31 · see citing works

Polyploidy, Aneuploidy and the Evolution of Cancer

Merlo, L. M. F., Wang, L. S., Pepper, J. W., Rabinovitch, P. S., & Maley, C. C. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-1-4419-6199-0_1 · Cited by 30 · see citing works

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