Further phenotypic expansion of 15q11.2 BP1–BP2 microdeletion (Burnside-Butler) syndrome

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 · see citing works

Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

Soemedi, R., Wilson, I. J., Bentham, J., Darlay, R., Töpf, A., Zelenika, D., Cosgrove, C., Setchfield, K., Thornborough, C., Granados-Riveron, J., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.08.003 · Cited by 315 · see citing works

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

Butler, M. G., Bittel, D. C., Kibiryeva, N., Talebizadeh, Z., & Thompson, T. (2004) · Pediatrics · doi:10.1542/peds.113.3.565 · Cited by 298 · see citing works

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

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

Prader-Willi Syndrome: Obesity due to Genomic Imprinting

Butler, M. G. (2011) · Current Genomics · doi:10.2174/138920211795677877 · Cited by 242 · see citing works

A review of the ocular manifestations

Colville, D. J., & Savige, J. (1997) · Ophthalmic Genetics · doi:10.3109/13816819709041431 · Cited by 229 · see citing works

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

Chai, J.-H., Locke, D. P., Greally, J. M., Knoll, J. H. M., Ohta, T., Dunai, J., Yavor, A., Eichler, E. E., & Nicholls, R. D. (2003) · The American Journal of Human Genetics · doi:10.1086/378816 · Cited by 218 · see citing works

NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)

Rainier, S., Chai, J.-H., Tokarz, D., Nicholls, R. D., & Fink, J. K. (2003) · The American Journal of Human Genetics · doi:10.1086/378817 · Cited by 207 · see citing works

Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome

Bittel, D. C., Kibiryeva, N., & Butler, M. G. (2006) · Pediatrics · doi:10.1542/peds.2006-0424 · Cited by 188 · see citing works

Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader-Willi critical region, possibly associated with behavioural disturbances.

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 · see citing works

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: Molecular characterization and genotype-phenotype correlations

Sahoo, T., Bacino, C. A., German, J. R., Shaw, C. A., Bird, L. M., Kimonis, V., Anselm, I., Waisbren, S., Beaudet, A. L., & Peters, S. U. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201859 · Cited by 152 · see citing works

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects

Varela, M. C., Kok, F., Otto, P. A., & Koiffmann, C. P. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201264 · Cited by 118 · see citing works

Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome

Hartley, S. L., MacLean, W. E., Butler, M. G., Zarcone, J., & Thompson, T. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30771 · Cited by 112 · see citing works

A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.

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 · see citing works

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

Pujana, M. Á., Nadal, M., Guitart, M., Armengol, L., Gratacòs, M., & Estivill, X. (2002) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200760 · Cited by 105 · see citing works

BAC microarray analysis of 15q11–q13 rearrangements and the impact of segmental duplications

Locke, D. P., Segraves, R., Nicholls, R. D., Schwartz, S., Pinkel, D., Albertson, D. G., & Eichler, E. E. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2003.013813 · Cited by 101 · see citing works

Functional characterization of NIPA2, a selective Mg2+ transporter

Goytain, A., Hines, R. M., & Quamme, G. A. (2008) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00091.2008 · Cited by 93 · see citing works

Ocular manifestations of autosomal recessive Alport syndrome

Colville, D., Savige, J., Morfis, M. M., Ellis, J., Kerr, P., Agar, J. W. M., & Fasset, R. (1997) · Ophthalmic Genetics · doi:10.3109/13816819709057125 · Cited by 85 · see citing works

Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment

Murthy, S. K., Nygren, A. O. H., El Shakankiry, H. M., Schouten, J. P., Al Khayat, A. I., Ridha, A., & Al Ali, M. T. (2007) · Cytogenetic and Genome Research · doi:10.1159/000097433 · Cited by 79 · see citing works

Genome-Wide Survey of Large Rare Copy Number Variants in Alzheimer’s Disease Among Caribbean Hispanics

Ghani, M., Pinto, D., Lee, J. H., Grinberg, Y., Sato, C., Moreno, D., Scherer, S. W., Mayeux, R. P., George‐Hyslop, P. S., & Rogaeva, E. A. (2012) · G3 Genes Genomes Genetics · doi:10.1534/g3.111.000869 · Cited by 63 · see citing works

Pathogenesis of Cataracts in Patients with Lowe's Syndrome

Tripathi, R. C., Cibis, G. W., & Tripathi, B. J. (1986) · Ophthalmology · doi:10.1016/s0161-6420(86)33622-4 · Cited by 57 · see citing works

Expanding the BP1-BP2 15q11.2 Microdeletion Phenotype: Tracheoesophageal Fistula and Congenital Cataracts

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 · see citing works

Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

Usrey, K. M., Williams, C. A., Dasouki, M., Fairbrother, L. C., & Butler, M. G. (2014) · Case Reports in Genetics · doi:10.1155/2014/127258 · Cited by 16 · see citing works

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 · see citing works

The 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 · see citing works

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 · see citing works

The 15q11.2 BP1-BP2 Microdeletion (Burnside–Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Disorders

Rafi, S. K., & Butler, M. G. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21093296 · Cited by 60 · see citing works

Recurrent 15q11.2 BP1‐BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders

Picinelli, 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 51 · see citing works

Genetic 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 · see citing works

Journal of Pediatric Genetics

Ruggieri, R. F. V. G. M. G. A. J. M. M. G. L. F. N. M. (2025) · Journal of Pediatric Genetics · doi:10.1055/s-00029027 · Cited by 18 · see citing works

Prenatal diagnosis of a familial 15q11.2 (BP1-BP2) microdeletion encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1 in a fetus with ventriculomegaly, microcephaly and intrauterine growth restriction on prenatal ultrasound

Chen, C., Chang, S., Wang, L., Chang, T., Chern, S., Wu, P.-S., Chen, S.-W., Lai, S.-T., Chuang, T.-Y., Yang, C.-W., et al. (2018) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2018.08.022 · Cited by 16 · see citing works

Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis

Chu, F., Shaw, S. W., Lee, C., Lo, L., Hsu, J.-J., & Hung, T. (2021) · Genes · doi:10.3390/genes12101480 · Cited by 15 · see citing works

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Giugliano, T., Savarese, M., Garofalo, A., Picillo, E., Fiorillo, C., D’Amico, A., Maggi, L., Ruggiero, L., Vercelli, L., Magri, F., et al. (2018) · Genes · doi:10.3390/genes9110524 · Cited by 15 · see citing works

The 15q11.2 BP1-BP2 Microdeletion (Burnside–Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Disorders

Rafi, S. K., & Butler, M. G. (2020) · Vide Leaf, Hyderabad eBooks · doi:10.37247/pamolscs.1.2020.17 · Cited by 12 · see citing works

Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus

Chen, C., Ko, T., Chern, S., Wu, P.-S., Chen, S.-W., Wu, F.-T., Chen, Y., Town, D., Chen, L., & Wang, W. (2021) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2021.03.027 · Cited by 6 · see citing works

Phenotypic Diversity of 15q11.2 BP1–BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review

Han, J. Y., & Park, J. (2021) · Diagnostics · doi:10.3390/diagnostics11040722 · Cited by 5 · see citing works

Down syndrome with bilateral posterior lenticonus

Jain, M., Rambhau, K. A., Shetty, S. B., & Vijayalakshmi, P. (2021) · BMJ Case Reports · doi:10.1136/bcr-2021-244343 · Cited by 3 · see citing works

Prenatal diagnosis of a de novo 15q11.2 microdeletion in a maternal inv(4)(p15q31) fetus with increased nuchal translucency

Sun, M., Yue, F., Yu, Y., Li, L., Jiang, Y., Zhang, H., & Liu, R. (2020) · Medicine · doi:10.1097/md.0000000000022496 · Cited by 1 · see citing works

A CNV Catalogue

Wyandt, H. E., Wilson, G. N., & Tonk, V. S. (2017) · Springer eBooks · doi:10.1007/978-981-10-3035-2_10 · Cited by 1 · see citing works

Nuevo caso de disfunción neurológica y microdeleción 15q11.2

Santotoribio, J. D., Salinas-Martín, M. V., & Batalha-Caetano, P. (2015) · Medicina Clínica · doi:10.1016/j.medcli.2014.11.006

Neurological dysfunction and 15q11.2 microdeletion: Report of a new case

Santotoribio, J. D., Salinas-Martín, M. V., & Batalha-Caetano, P. (2015) · Medicina Clínica (English Edition) · doi:10.1016/j.medcle.2016.02.046

Prenatal diagnosis of a familial normal euchromatic variant of dup(15)(q11.2q11.2) in a pregnancy with a favorable outcome

Chen, C., Ko, T., Huang, J., Chern, S., Wu, P.-S., Chen, S.-W., Wu, F.-T., Chen, W., Lee, M., & Wang, W. (2020) · Taiwanese Journal of Obstetrics and Gynecology · doi:10.1016/j.tjog.2020.07.027

Effects of Growth Hormone Therapy on Sleep-Disordered Breathing and Metabolic Parameters in Patients with Prader–Willi Syndrome According to Genetic SubtypePreprint

Akın, O., Yazarlı, E., Ulu, N. K., Sunman, B., Emet, D. C., Özer, E., Yardimci, G., Koçer, M., Tekin, V., Güneş, S. O., et al. (2026) · Research Square · doi:10.21203/rs.3.rs-10447234/v1

Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families

Baldwin, I., Shafer, R. L., Hossain, W. A., Gunewardena, S., Veatch, O. J., Mosconi, M. W., & Butler, M. G. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22041660 · Cited by 16 · see citing works

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 · see citing works

15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients

Vanlerberghe, 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 123 · see citing works

Phenotypic Diversity of 15q11.2 BP1–BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review

Han, J. Y., & Park, J. (2021) · Diagnostics · doi:10.3390/diagnostics11040722 · Cited by 5 · see citing works

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 · see citing works