The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
Expression of 4 Genes Between Chromosome 15 Breakpoints 1 and 2 and Behavioral Outcomes in Prader-Willi Syndrome
Open accessAbstract
Prader-Willi syndrome is a neurodevelopmental disorder that is characterized by infantile hypotonia, feeding difficulties, hypogonadism, mental deficiency, hyperphagia (leading to obesity in early childhood), learning problems, and behavioral difficulties. A paternal 15q11-q13 deletion is found in ∼70% of patients with Prader-Willi syndrome, ∼25% have uniparental maternal disomy 15, and the remaining 2% to 5% have imprinting defects. The proximal deletion breakpoint in the 15q11-q13 region occurs at 1 of 2 sites located within either of 2 large duplicons allowing for the identification of 2 deletion subgroups. The larger, type I (TI) deletion involves breakpoint 1, which is close to the centromere, whereas the smaller, type II (TII) deletion involves breakpoint 2, located ∼500 kilobases distal to breakpoint 1. Breakpoint 3 is located at the distal end of the 15q11-q13 region and common to both typical deletion subgroups. Analyses of the genetic subtypes of Prader-Willi syndrome to date have primarily compared individuals with typical deletion and uniparental maternal disomy 15 without grouping the individuals with a deletion into TI or TII. Distinct differences have been reported between individuals with Prader-Willi syndrome resulting from deletion compared with uniparental maternal disomy 15 in physical, cognitive, and behavioral parameters. We previously presented the first assessment of clinical differences in individuals with Prader-Willi syndrome categorized as having type I or II deletions. Adaptive behavior, obsessive-compulsive behaviors, reading, math, and visual-motor integration assessments were generally poorer in individuals with Prader-Willi syndrome and the TI deletion compared with subjects with Prader-Willi syndrome with the TII deletion or uniparental maternal disomy 15. Four genes (NIPA1, NIPA2, CYFIP1, and GCP5) have been identified in the chromosomal region between breakpoints 1 and 2 and are implicated in compulsive behavior and lower intellectual ability observed in individuals with Prader-Willi syndrome with TI versus TII deletions. We quantified messenger-RNA levels of these 4 genes in actively growing lymphoblastoid cells derived from 8 subjects with Prader-Willi syndrome with the TI deletion (4 males, 4 females; mean: age 25.2 ± 8.9 years) and 9 with the TII deletion (3 males, 6 females; mean age: 19.5 ± 5.8 years). Messenger-RNA levels were correlated with validated psychological and behavioral scales administered by trained psychologists blinded to genotype status. Messenger RNA from NIPA1, NIPA2, CYFIP1, and GCP5 was reduced but detectable in the subjects with Prader-Willi syndrome with the TI deletion, supporting biallelic expression. For the most part, messenger-RNA values were positively correlated with assessment parameters, indicating a direct relationship between messenger-RNA levels and better assessment scores, with the highest correlation for NIPA2. The coefficient of determination indicated the quantity of messenger RNA of the 4 genes explained from 24% to 99% of the variation of the behavioral and academic parameters measured. By comparison, the coefficient of determination for deletion type alone explained 5% to 50% of the variation in the assessed parameters. Understanding the influence of gene expression on behavioral and cognitive characteristics in humans is in the early stage of research development. Additional research is needed to identify the function of these genes and their interaction with gene networks to clarify the potential role they play in central nervous system development and function.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Several studies have shown that individuals with the larger typical 15q11–q13 type I deletion which is found in both Prader-Willi and Angelman syndromes are reported to have more severe neurodevelopmental symptoms as compared to those individuals with the smaller typical type II deletion [5,6,7,8,9,10].”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [6]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Copy number variation (CNV) at the 15q11.2 region has been identified as a significant risk locus for neurological and neuropsychiatric conditions such as schizophrenia (SCZ) and autism spectrum disorder (ASD).”
From The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (2014) · cites this paper as [2]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“The NIPA2 gene accounted for the largest number of significant correlations between the mRNA levels and phenotypic features.”
From The 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review (2015) · cites this paper as [6]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
The Yale-Brown Obsessive Compulsive Scale: I. Development, Use, and Reliability
Goodman, W. K. (1989) · Archives of General Psychiatry · doi:10.1001/archpsyc.1989.01810110048007 · Cited by 7,712
The Yale-Brown Obsessive Compulsive Scale: II. Validity
Goodman, W. K. (1989) · Archives of General Psychiatry · doi:10.1001/archpsyc.1989.01810110054008 · Cited by 2,799
The Yale-Brown Obsessive-Compulsive Scale: measures of internal consistency.
Kim, S.-W., Dysken, M., Pheley, A., & Hoover, K. M. (1994) · Psychiatry Research · doi:10.1016/0165-1781(94)90039-6 · Cited by 2,333
Developmental Test of Visual-Motor Integration
Beery, K. E., & Buktenica, N. A. (1967) · PsycTESTS Dataset · doi:10.1037/t11054-000 · Cited by 672
Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes
Nicholls, R. D., & Knepper, J. L. (2001) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.2.1.153 · Cited by 625
Prader‐Willi syndrome: Current understanding of cause and diagnosis
Butler, M. G. (1990) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320350306 · Cited by 581
Self-citationCassidy, S. B. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.11.917 · Cited by 472
Schenck, A., Bardoni, B., Moro, A., Bagni, C., & Mandel, J.-L. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.151231598 · Cited by 356
Prader–Willi syndrome: clinical genetics, cytogenetics and molecular biology
Bittel, D. C., & Butler, M. G. (2005) · Expert Reviews in Molecular Medicine · doi:10.1017/s1462399405009531 · Cited by 331
Self-citationButler, M. G., Bittel, D. C., Kibiryeva, N., Talebizadeh, Z., & Thompson, T. (2004) · Pediatrics · doi:10.1542/peds.113.3.565 · Cited by 298
Self-citation
Cited by
Sorted by citations
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
Chromosome Abnormalities and Genetic Counseling
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.001.0001 · Cited by 858
Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings
Angulo, M., Butler, M. G., & Cataletto, M. E. (2015) · Journal of Endocrinological Investigation · doi:10.1007/s40618-015-0312-9 · Cited by 607
Self-citationRecommendations for the Diagnosis and Management of Prader-Willi Syndrome
Goldstone, A. P., Holland, A. J., Hauffa, B. P., Hokken‐Koelega, A. C. S., & Tauber, M. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2008-0649 · Cited by 523
The Genetic Landscapes of Autism Spectrum Disorders
Huguet, G., Ey, E., & Bourgeron, T. (2013) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev-genom-091212-153431 · Cited by 486
Prader–Willi syndrome and Angelman syndrome
Buiting, K. (2010) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30273 · Cited by 336
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
Self-citationThe 15q11.2 BP1–BP2 Microdeletion Syndrome: A Review
Cox, D., & Butler, M. (2015) · International Journal of Molecular Sciences · doi:10.3390/ijms16024068 · Cited by 243
“[6] reported that the amount of mRNA isolated from lymphoblastoid cell lines established from individuals with PWS for the four genes (i.”
BackgroundSelf-citationPrader-Willi Syndrome: Obesity due to Genomic Imprinting
Butler, M. G. (2011) · Current Genomics · doi:10.2174/138920211795677877 · Cited by 242
Self-citationPathania, M., Davenport, E. C., Muir, J., Sheehan, D. F., López-Doménech, G., & Kittler, J. T. (2014) · Translational Psychiatry · doi:10.1038/tp.2014.16 · Cited by 189
Doornbos, M., Sikkema-Raddatz, B., Ruijvenkamp, C. A. L., Dijkhuizen, T., Bijlsma, E. K., Gijsbers, A. C. J., Hilhorst-Hofstee, Y., Hordijk, R., Verbruggen, K. T., Kerstjens-Frederikse, W. S. (., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.010 · Cited by 165
McLennan, Y., Polussa, J., Tassone, F., & Hagerman, R. (2011) · Current Genomics · doi:10.2174/138920211795677886 · Cited by 160
Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study
Butler, M. G., Hartin, S. N., Hossain, W. A., Manzardo, A. M., Kimonis, V. E., Dykens, E. M., Gold, J. A., Kim, S., Weisensel, N., Tamura, R., et al. (2018) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105301 · Cited by 163
Self-citationDepienne, C., Moreno‐De‐Luca, D., Héron, D., Bouteiller, D., Gennetier, A., Delorme, R., Chaste, P., Siffroi, J., Chantot‐Bastaraud, S., Benyahia, B., et al. (2009) · Biological Psychiatry · doi:10.1016/j.biopsych.2009.01.025 · Cited by 164
Behavior in Prader‐Willi syndrome: relationship to genetic subtypes and age
Dykens, E. M., & Roof, E. (2008) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2008.01913.x · Cited by 151
Talebizadeh, Z., Butler, M. G., & Theodoro, M. F. (2008) · Autism Research · doi:10.1002/aur.33 · Cited by 157
Self-citationVanlerberghe, C., Petit, F., Malan, V., Vincent‐Delorme, C., Bouquillon, S., Boute, O., Holder‐Espinasse, M., Delobel, B., Duban‐Bedu, B., Vallée, L., et al. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.01.002 · Cited by 128
Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
Gardner, R. J. M., & Amor, D. J. (2018) · doi:10.1093/med/9780199329007.001.0001 · Cited by 122
Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTor
Oguro-Ando, A., Rosensweig, C., Herman, E., Nishimura, Y., Werling, D., Bill, B. R., Berg, J. M., Gao, F., Coppola, G., Abrahams, B. S., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.124 · Cited by 117
van der Zwaag, B., Staal, W. G., Hochstenbach, R., Poot, M., Spierenburg, H. A., de Jonge, M. V., Verbeek, N. E., van 't Slot, R., van Es, M. A., Staal, F. J., et al. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31055 · Cited by 108
CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome
Abekhoukh, S., & Bardoni, B. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00081 · Cited by 110
Clinical and genetic aspects of the 15q11.2 BP1–BP2 microdeletion disorder
Butler, M. G. (2017) · Journal of Intellectual Disability Research · doi:10.1111/jir.12382 · Cited by 102
Self-citationHaploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice
Bozdagi, O., Sakurai, T., Dorr, N., Pilorge, M., Takahashi, N., & Buxbaum, J. D. (2012) · PLoS ONE · doi:10.1371/journal.pone.0042422 · Cited by 97
Writing Committee for the ENIGMA-CNV Working Group, van der Meer, D., Sønderby, I. E., Kaufmann, T., Walters, G. B., Abdellaoui, A., Ames, D., Amunts, K., Andersson, M., Armstrong, N. J., et al. (2020) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2019.3779 · Cited by 87
15q11.2 microdeletion – Seven new patients with delayed development and/or behavioural problems
von der Lippe, C., Rustad, C., Heimdal, K., & Rødningen, O. K. (2011) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2010.12.008 · Cited by 86
Array comparative genomic hybridization (aCGH) analysis in Prader–Willi syndrome
Butler, M. G., Fischer, W., Kibiryeva, N., & Bittel, D. C. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32249 · Cited by 81
Self-citationZarcone, J. R., Napolitano, D. A., Peterson, C., Breidbord, J., Ferraioli, S. J., Caruso‐Anderson, M., Holsen, L. M., Butler, M. G., & Thompson, T. I. (2007) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2006.00916.x · Cited by 80
Self-citationSingle Gene and Syndromic Causes of Obesity: Illustrative Examples
Butler, M. G. (2016) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2015.12.003 · Cited by 74
Self-citationJohnson, L., Manzardo, A. M., Miller, J. L., Driscoll, D. J., & Butler, M. G. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37488 · Cited by 73
Self-citationManzardo, A. M., Weisensel, N., Ayala, S., Hossain, W. A., & Butler, M. G. (2017) · Clinical Genetics · doi:10.1111/cge.13142 · Cited by 70
Self-citationAradhya, S., Manning, M. A., Splendore, A., & Cherry, A. M. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31773 · Cited by 67
Dendritic spine actin cytoskeleton in autism spectrum disorder
Joensuu, M., Lanoue, V., & Hotulainen, P. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.08.023 · Cited by 65
Cyfip1 Regulates Presynaptic Activity during Development
Hsiao, K., Harony-Nicolas, H., Buxbaum, J. D., Bozdagi-Gunal, O., & Benson, D. L. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.0511-15.2016 · Cited by 64
Wolf, V. D., Brison, N., Devriendt, K., & Peeters, H. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36209 · Cited by 63
Genetic subtype differences in neural circuitry of food motivation in Prader-Willi syndrome
Holsen, L. M., Zarcone, J. R., Chambers, R., Butler, M. G., Bittel, D. C., Brooks, W. M., Thompson, T. I., & Savage, C. R. (2008) · International Journal of Obesity · doi:10.1038/ijo.2008.255 · Cited by 60
Self-citationRare CNVs and Tag SNPs at 15q11.2 are associated with schizophrenia in the Han Chinese population
Zhao, Q., Li, T., Zhao, X., Huang, K., Wang, T., Li, Z., Ji, J., Zeng, Z., Zhang, Z., Li, K., et al. (2013) · Schizophrenia Bulletin · doi:10.1093/schbul/sbr197 · Cited by 58
Neural correlates of task switching in paternal 15q11–q13 deletion Prader–Willi syndrome
Woodcock, K. A., Humphreys, G. W., Oliver, C., & Hansen, P. (2010) · Brain Research · doi:10.1016/j.brainres.2010.09.093 · Cited by 53
Cafferkey, M., Ahn, J. W., Flinter, F., & Ogilvie, C. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36554 · Cited by 92
Is gestation in Prader-Willi syndrome affected by the genetic subtype?
Butler, M. G., Sturich, J., Myers, S. E., Gold, J., Kimonis, V. E., & Driscoll, D. J. (2009) · Journal of Assisted Reproduction and Genetics · doi:10.1007/s10815-009-9341-7 · Cited by 51
Self-citationPicinelli, C., Lintas, C., Piras, I. S., Gabriele, S., Sacco, R., Brogna, C., & Persico, A. M. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32480 · Cited by 53
Prader–Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review
Butler, M. G. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24054271 · Cited by 54
Self-citationA review of psychiatric conceptions of mental and behavioural disorders in Prader-Willi syndrome
Whittington, J. E., & Holland, A. J. (2018) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2018.10.006 · Cited by 47
Prader–Willi syndrome: From genetics to behaviour, with special focus on appetite treatments
Griggs, J. L., Sinnayah, P., & Mathai, M. L. (2015) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2015.10.003 · Cited by 45
Butler, M. G., Wang, K., Naggert, J. Κ., Rethmeyer, J. A., Gunewardena, S., Manzardo, A. M., & Marshall, J. D. (2015) · Advances in Genomics and Genetics · doi:10.2147/agg.s74598 · Cited by 39
Self-citationSilva, A. I., Ulfarsson, M. O., Stefansson, H., Gustafsson, O., Walters, G. B., Linden, D. E. J., Wilkinson, L. S., Drakesmith, M., Owen, M. J., Hall, J., et al. (2019) · Biological Psychiatry · doi:10.1016/j.biopsych.2018.11.004 · Cited by 36
In search of the psychosis gene in people with Prader‐Willi syndrome
Webb, T. P., Maina, E. N., Soni, S., Whittington, J. E., Boer, H., Clarke, D., & Holland, A. J. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32212 · Cited by 37
Woo, Y. J., Wang, T., Guadalupe, T. M., Nebel, R. A., Vino, A., Bene, V. A. D., Molholm, S., Ross, L. A., Zwiers, M. P., Fisher, S. E., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0158036 · Cited by 36
Investigating Autism-Related Symptoms in Children with Prader-Willi Syndrome: A Case Study
Bennett, J., Thompson‐Hodgetts, S., Mackenzie, M. L., Haqq, A. M., & Zwaigenbaum, L. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18030517 · Cited by 36
GABRB3, Epilepsy, and Neurodevelopment
Tanaka, M., DeLorey, T. M., Delgado‐Escueta, A. V., & Olsen, R. W. (2012) · Oxford University Press eBooks · doi:10.1093/med/9780199746545.003.0070 · Cited by 33
Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome
Davis, K., Serrano, M. A., Loddo, S., Robinson, C., Alesi, V., Dallapiccola, B., Novelli, A., & Butler, M. G. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20061459 · Cited by 34
Self-citationGenetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia
Zhao, M., Chen, Y.-J., Wang, M., Lin, X.-H., Dong, E., Chen, W., Wang, N., & Lin, X. (2019) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-019-00426-w · Cited by 31
Deak, K. L., Horn, S. R. G.-V., & Rehder, C. W. (2011) · Clinics in Laboratory Medicine · doi:10.1016/j.cll.2011.08.008 · Cited by 30
Holland, A. J., Aman, L. C. S., & Whittington, J. E. (2019) · Genes · doi:10.3390/genes10121025 · Cited by 30
A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics
Strom, S. P., Hossain, W. A., Grigorian, M., Li, M., Fierro, J. M., Scaringe, W. A., Yen, H.-Y., Teguh, M., Liu, J. S. T., Gao, H., et al. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.608889 · Cited by 28
Self-citationBachmann, S. O., Śledziowska, M., Cross, E., Kalbassi, S., Waldron, S., Chen, F., Ranson, A., & Baudouin, S. J. (2019) · Translational Psychiatry · doi:10.1038/s41398-018-0338-9 · Cited by 28
FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability
Clifton, N. E., Thomas, K. L., Wilkinson, L. S., Hall, J., & Trent, S. (2020) · Complex Psychiatry · doi:10.1159/000506858 · Cited by 28
Fricano-Kugler, C. J., Gordon, A., Shin, G. S., Gao, K., Nguyen, J., Berg, J. M., Starks, M., & Geschwind, D. H. (2019) · Molecular Autism · doi:10.1186/s13229-019-0278-0 · Cited by 27
Babbs, R. K., Beierle, J. A., Ruan, Q. T., Kelliher, J. C., Chen, M. M., Feng, A. X., Kirkpatrick, S. L., Benitez, F. A., Rodriguez, F. A., Pierre, J. J., et al. (2019) · G3 Genes|Genomes|Genetics · doi:10.1534/g3.119.400470 · Cited by 26
Chung, L., Wang, X., Zhu, L., Towers, A. J., Cao, X., Kim, I. H., & Jiang, Y. (2015) · Brain Research · doi:10.1016/j.brainres.2015.10.015 · Cited by 25
Three Steps Toward Improving the Measurement of Behavior in Behavioral Phenotype Research
Dykens, E. M., & Hodapp, R. M. (2007) · Child and Adolescent Psychiatric Clinics of North America · doi:10.1016/j.chc.2007.02.001 · Cited by 27
Should We Report 15q11.2 BP1-BP2 Deletions and Duplications in the Prenatal Setting?
Maya, I., Perlman, S., Shohat, M., Kahana, S., Yacobson, S., Tenne, T., Agmon‐Fishman, I., Matar, R. T., Basel‐Salmon, L., & Halevy, R. S. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9082602 · Cited by 24
15q11.2 microdeletion and FMR1 premutation in a family with intellectual disabilities and autism
Madrigal, I., Rodríguez-Revenga, L., Xunclà, M., & Milà, M. (2012) · Gene · doi:10.1016/j.gene.2012.07.023 · Cited by 23
Dykens, E. M. (2012) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-012-1462-7 · Cited by 23
Rosenberg, A. G. W., Wellink, C., Garcia, J. M. T., Pellikaan, K., van Abswoude, D. H., Davidse, K., van Zutven, L. J. C. M., Brüggenwirth, H. T., Resnick, J. L., van der Lely, A. J., et al. (2022) · Journal of Clinical Medicine · doi:10.3390/jcm11144033 · Cited by 22
Jiang, Y. H., Wauki, K., Liu, Q., Bressler, J., Pan, Y., Kashork, C. D., Shaffer, L. G., & Beaudet, A. L. (2008) · BMC Genomics · doi:10.1186/1471-2164-9-50 · Cited by 22
Learning by observation and learning by doing in Prader-Willi syndrome
Foti, F., Menghini, D., Orlandi, E., Rufini, C., Crinò, A., Spera, S., Vicari, S., Petrosini, L., & Mandolesi, L. (2015) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-015-9102-0 · Cited by 21
GABRB3, epilepsy, and neurodevelopment
Tanaka, M., DeLorey, T. M., Delgado‐Escueta, A. V., & Olsen, R. W. (2010) · Epilepsia · doi:10.1111/j.1528-1167.2010.02863.x · Cited by 20
Further phenotypic expansion of 15q11.2 BP1–BP2 microdeletion (Burnside-Butler) syndrome
Jerkovich, A., & Butler, M. (2015) · Journal of Pediatric Genetics · doi:10.3233/pge-14082 · Cited by 20
Self-citationThree siblings with Prader–Willi syndrome caused by imprinting center microdeletions and review
Hartin, S. N., Hossain, W. A., Weisensel, N., & Butler, M. G. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38627 · Cited by 19
Self-citationBehavioral and Psychiatric Disorders in Syndromic Autism
Genovese, A., & Butler, M. G. (2024) · Brain Sciences · doi:10.3390/brainsci14040343 · Cited by 22
Self-citationGenome-wide association analysis in West Highland White Terriers with atopic dermatitis
Agler, C. S., Friedenberg, S. G., Olivry, T., Meurs, K. M., & Olby, N. J. (2019) · Veterinary Immunology and Immunopathology · doi:10.1016/j.vetimm.2019.01.004 · Cited by 19
Whittington, J. E., Holland, A. J., & Webb, T. (2009) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2009.01157.x · Cited by 17
Lustig, R. H. (2010) · Endocrine updates · doi:10.1007/978-1-4419-7034-3 · Cited by 23
Wiener, H. W., Klei, L., Calkins, M. E., Wood, J. A., Nimgaonkar, V. L., Gur, R. C., Bradford, L. D., Richard, J. A., Edwards, N. B., Savage, R., et al. (2012) · Schizophrenia Bulletin · doi:10.1093/schbul/sbr161 · Cited by 15
Progress in Brain Magnetic Resonance Imaging of Individuals with Prader–Willi Syndrome
Huang, Z., & Cai, J. (2023) · Journal of Clinical Medicine · doi:10.3390/jcm12031054 · Cited by 14
Does the presenilin 2 gene predispose to schizophrenia?
Zhang, J., Chen, J., Xu, Q., & Shen, Y. (2009) · Schizophrenia Research · doi:10.1016/j.schres.2009.01.013 · Cited by 14
Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable
Pérez, A., Trives, I. M., Azorín, I. P., Mas, L., Lledó, E. P., & Sánchez, F. G. (2011) · Anales de Pediatría · doi:10.1016/j.anpedi.2011.01.033 · Cited by 14
Abrahams, B. S., & Geschwind, D. H. (2009) · Springer eBooks · doi:10.1007/978-3-540-37654-5_29 · Cited by 15
Huang, Y. (2015) · International Journal of Neuroscience · doi:10.3109/00207454.2015.1038711 · Cited by 13
Pellikaan, K., Nguyen, N., Rosenberg, A. G. W., Coupaye, M., Goldstone, A. P., Höybye, C., Markovic, T., Grugni, G., Crinò, A., Caixàs, A., et al. (2023) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad312 · Cited by 12
Newkirk, H. L., Bittel, D. C., & Butler, M. G. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32459 · Cited by 13
Self-citationTop-down or bottom-up: Contrasting perspectives on psychiatric diagnoses
Verhoeven, W. M. A., Egger, J. I. M., Gunning, W. B., M.Bevers, & de Pont, B. J. H. B. (2008) · Biologics · doi:10.2147/btt.s3053 · Cited by 15
Autosomal Reciprocal Translocations
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0005 · Cited by 10
Down Syndrome, Other Full Aneuploidies, and Polyploidy
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0018 · Cited by 10
Evaluation of Autonomic Nervous System Dysfunction in Childhood Obesity and Prader–Willi Syndrome
Richer, L. P., Tan, Q., Butler, M. G., Avedzi, H. M., DeLorey, D. S., Peng, Y., Tun, H. M., Sharma, A. M., Ainsley, S., Orsso, C. E., et al. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24098013 · Cited by 9
Self-citationGrzmil, P., Konietzko, J., Böhm, D., Hölter, S. M., Aguilar, A., Javaheri, A., Kalaydjiev, S., Adler, T., Bolle, I., Adham, I. M., et al. (2009) · Cytogenetic and Genome Research · doi:10.1159/000230003 · Cited by 10
TPH2 polymorphisms and expression in Prader-Willi syndrome subjects with differing genetic subtypes
Henkhaus, R. S., Bittel, D. C., & Butler, M. G. (2010) · Journal of Neurodevelopmental Disorders · doi:10.1007/s11689-010-9051-6 · Cited by 9
Self-citationMonteiro, S., Pinto, J., Coelho, A. M., Leão, M., & Dória, S. (2019) · Neuropediatrics · doi:10.1055/s-0039-1694797 · Cited by 8
Cyfip1 Regulates SynGAP1 at Hippocampal Synapses
Sahasrabudhe, A., Begum, F., Guevara, C. A., Morrison, C., Hsiao, K., Kezunovic, N., Bozdagi-Gunal, O., & Benson, D. L. (2021) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2020.581714 · Cited by 8
Morbid obesity in an adolescent with Prader-Willi syndrome
dos Santos, V. M., de Paula, F. H., Osterne, E. M. C., Nery, N. S., & Turra, T. Z. (2009) · Revista médica de Chile · doi:10.4067/s0034-98872009000200012 · Cited by 8
Chromosome Instability Syndromes
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0016 · Cited by 9
Wong, D., Johnson, S. M., Young, D., Iwamoto, L., Sood, S., & Slavin, T. P. (2013) · Case Reports in Genetics · doi:10.1155/2013/801094 · Cited by 25
A Review of Prader–Willi Syndrome
Szabadi, S., Sila, Z., Dewey, J., Rowland, D., Penugonda, M., & Ergun-Longmire, B. (2022) · Endocrines · doi:10.3390/endocrines3020027 · Cited by 7
Explorative function in Prader–Willi syndrome analyzed through an ecological spatial task
Foti, F., Menghini, D., Petrosini, L., Vicari, S., Valerio, G., Orlandi, E., Crinò, A., Spera, S., Bartolo, P. D., & Mandolesi, L. (2015) · Research in Developmental Disabilities · doi:10.1016/j.ridd.2014.11.022 · Cited by 6
Parental age counseling and screening for fetal trisomy
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0024 · Cited by 6
Habela, C. W., Liu, S., Taga, A., Oddoye, S., Dastgheyb, R. M., Haughey, N. J., Bergles, D. E., Song, H., Ming, G., & Maragakis, N. J. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03453-w · Cited by 4
Analysis of N‐ and O‐linked protein glycosylation in children with Prader‐Willi syndrome
Munce, T., Heussler, H., & Bowling, F. G. (2010) · Journal of Intellectual Disability Research · doi:10.1111/j.1365-2788.2010.01323.x · Cited by 5
Babbs, R. K., Ruan, Q. T., Kelliher, J. C., Beierle, J. A., Chen, M. M., Feng, A. X., Kirkpatrick, S. L., Benitez, F. A., Rodriguez, F. A., Pierre, J., et al. (2018) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/264846 · Cited by 5
Prader-Willi syndrome: Genetics, clinical symptoms, and model systems
Saade, M., Rike, W. A., Sharma, O., Abu-Akel, A. M., & Stern, S. (2025) · Genomic psychiatry : · doi:10.61373/gp025i.0044 · Cited by 3
Variant Chromosomes and Abnormalities of No Phenotypic Consequence
Gardner, R. J., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0016 · Cited by 4
Metadata
- Authors
- Bittel, D. C., Kibiryeva, N., & Butler, M. G.
- Affiliations
- Children's Mercy Hospital (US)
- Venue
- Pediatrics
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 2006-10-01
- Volume
- 118
- Issue
- 4
- Pages
- e1276-e1283
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- PMC
- PMC5453799
- OpenAlex
- W2143936008
- Cited by
- 188
- References
- 27
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 1 · 2023: 4 · 2022: 5 · 2021: 3 · 2020: 3 · 2019: 10 · 2018: 38 · 2017: 4 · 2016: 7 · 2015: 11 · 2014: 8 · 2013: 4 · 2012: 8
- FWCI
- 4.56
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- PEDIATRICS (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institutes of Health
- National Institute of Child Health and Human Development
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (P01HD 30329, R01 HD41672, P01HD030329, R01HD041672)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Neuroscience › Developmental Neuroscience › Williams Syndrome Research
- Keywords
- Prader-Willi syndrome, chromosome 15q11-q13, NIPA1, CYFIP1, gene expression, mRNA levels, obsessive-compulsive behavior, adaptive behavior, intellectual disability, uniparental disomy 15, imprinting, lymphoblastoid cell lines
- MeSH terms
- Adolescent, Adult, Chromosomes, Human, Pair 15, Cognition Disorders, Female, Humans, Male, Membrane Proteins, Microtubule-Associated Proteins, Obsessive-Compulsive Disorder, Prader-Willi Syndrome, RNA, Messenger, Gene Expression Profiling, Cation Transport Proteins, Adaptor Proteins, Signal Transducing
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
