{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T17:09:36Z","timestamp":1790615376670,"version":"4.1.0"},"reference-count":57,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2021,2,7]],"date-time":"2021-02-07T00:00:00Z","timestamp":1612656000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000071","name":"National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["HD02528"],"award-info":[{"award-number":["HD02528"]}],"id":[{"id":"10.13039\/100000071","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Kansas Intellectual and Developmental Disabilities Research Center (KIDDRC)","award":["U54HD090216"],"award-info":[{"award-number":["U54HD090216"]}]},{"name":"National Center for Advancing Translational Sciences (NCATS) Clinical and Translational Science Award (CTSA) awarded to the Frontiers: University of Kansas Clinical and Translational Science Institute","award":["TL1TR002368"],"award-info":[{"award-number":["TL1TR002368"]}]},{"DOI":"10.13039\/100000025","name":"National Institute of Mental Health","doi-asserted-by":"publisher","award":["R01MH112734"],"award-info":[{"award-number":["R01MH112734"]}],"id":[{"id":"10.13039\/100000025","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000092","name":"U.S. National Library of Medicine","doi-asserted-by":"publisher","award":["K01LM012870"],"award-info":[{"award-number":["K01LM012870"]}],"id":[{"id":"10.13039\/100000092","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most common cytogenetic finding in patients with neurodevelopmental or autism spectrum disorders (ASD) presenting for microarray genetic testing. Clinical findings in Burnside-Butler syndrome include developmental and motor delays, congenital abnormalities, learning and behavioral problems, and abnormal brain findings. To better define symptom presentation, we performed comprehensive cognitive and behavioral testing, collected medical and family histories, and conducted clinical genetic evaluations. The 15q11.2 BP1-BP2 region includes the TUBGCP5, CYFIP1, NIPA1, and NIPA2 genes. To determine if additional genomic variation outside of the 15q11.2 region influences expression of symptoms in Burnside-Butler syndrome, whole-exome sequencing was performed on the parents and affected children for the first time in five families with at least one parent and child with the 15q1l.2 BP1-BP2 deletion. In total, there were 453 genes with possibly damaging variants identified across all of the affected children. Of these, 99 genes had exclusively de novo variants and 107 had variants inherited exclusively from the parent without the deletion. There were three genes (APBB1, GOLGA2, and MEOX1) with de novo variants that encode proteins evidenced to interact with CYFIP1. In addition, one other gene of interest (FAT3) had variants inherited from the parent without the deletion and encoded a protein interacting with CYFIP1. The affected individuals commonly displayed a neurodevelopmental phenotype including ASD, speech delay, abnormal reflexes, and coordination issues along with craniofacial findings and orthopedic-related connective tissue problems. Of the 453 genes with variants, 35 were associated with ASD. On average, each affected child had variants in 6 distinct ASD-associated genes (x\u00af = 6.33, sd = 3.01). In addition, 32 genes with variants were included on clinical testing panels from Clinical Laboratory Improvement Amendments (CLIA) approved and accredited commercial laboratories reflecting other observed phenotypes. Notably, the dataset analyzed in this study was small and reported results will require validation in larger samples as well as functional follow-up. Regardless, we anticipate that results from our study will inform future research into the genetic factors influencing diverse symptoms in patients with Burnside-Butler syndrome, an emerging disorder with a neurodevelopmental behavioral phenotype.<\/jats:p>","DOI":"10.3390\/ijms22041660","type":"journal-article","created":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T20:51:51Z","timestamp":1612817511000},"page":"1660","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families"],"prefix":"10.3390","volume":"22","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1176-0836","authenticated-orcid":false,"given":"Isaac","family":"Baldwin","sequence":"first","affiliation":[{"name":"Department of Psychiatry &amp; Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA"},{"name":"Department of Pediatrics, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-3501","authenticated-orcid":false,"given":"Robin L.","family":"Shafer","sequence":"additional","affiliation":[{"name":"Schiefelbusch Institute for Life Span Studies and Kansas Center for Autism Research and Training, University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Waheeda A.","family":"Hossain","sequence":"additional","affiliation":[{"name":"Department of Psychiatry &amp; Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA"},{"name":"Department of Pediatrics, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sumedha","family":"Gunewardena","sequence":"additional","affiliation":[{"name":"Department of Molecular and Integrative Physiology, University of Kansas Medical Center, Kansas City, KS 66160, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivia J.","family":"Veatch","sequence":"additional","affiliation":[{"name":"Department of Psychiatry &amp; Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA"},{"name":"Department of Molecular and Integrative Physiology, University of Kansas Medical Center, Kansas City, KS 66160, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew W.","family":"Mosconi","sequence":"additional","affiliation":[{"name":"Schiefelbusch Institute for Life Span Studies and Kansas Center for Autism Research and Training, University of Kansas, Lawrence, KS 66045, USA"},{"name":"Clinical Child Psychology Program, University of Kansas, Lawrence, KS 66045, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2911-0524","authenticated-orcid":false,"given":"Merlin G.","family":"Butler","sequence":"additional","affiliation":[{"name":"Department of Psychiatry &amp; Behavioral Sciences, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA"},{"name":"Department of Pediatrics, University of Kansas Medical Center, 3901 Rainbow Blvd. MS 4015, Kansas City, KS 66160, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,2,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1038\/342281a0","article-title":"Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome","volume":"342","author":"Nicholls","year":"1989","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"136","DOI":"10.2174\/1573396312666151123115250","article-title":"Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches","volume":"12","author":"Butler","year":"2016","journal-title":"Curr. Pediatr. Rev."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Butler, M., Lee, P.D.K., and Whitman, B. (2006). Management of Prader-Willi syndrome. Management of Prader-Willi Syndrome, Springer. [3rd ed.].","DOI":"10.1007\/978-0-387-33536-0"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1097\/GIM.0b013e3181def138","article-title":"Clinical and genetic aspects of Angelman syndrome","volume":"12","author":"Williams","year":"2010","journal-title":"Genet. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S1462399405009531","article-title":"Prader-Willi syndrome: Clinical genetics, cytogenetics and molecular biology","volume":"7","author":"Bittel","year":"2005","journal-title":"Expert Rev. Mol. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"478","DOI":"10.1111\/j.1365-2788.2006.00916.x","article-title":"The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome","volume":"51","author":"Zarcone","year":"2007","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1542\/peds.113.3.565","article-title":"Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy","volume":"113","author":"Butler","year":"2004","journal-title":"Pediatrics"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/ajmg.a.30771","article-title":"Maladaptive behaviors and risk factors among the genetic subtypes of Prader-Willi syndrome","volume":"136","author":"Hartley","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/s00439-011-0970-4","article-title":"Microdeletion\/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay","volume":"130","author":"Burnside","year":"2011","journal-title":"Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"4068","DOI":"10.3390\/ijms16024068","article-title":"The 15q11.2 BP1-BP2 microdeletion syndrome: A review","volume":"16","author":"Cox","year":"2015","journal-title":"Int. J. Mol. Sci."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1111\/jir.12382","article-title":"Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder","volume":"61","author":"Butler","year":"2017","journal-title":"J. Intellect. Disabil. Res."},{"key":"ref_12","doi-asserted-by":"crossref","unstructured":"Ho, K.S., Wassman, E.R., Baxter, A.L., Hensel, C.H., Martin, M.M., Prasad, A., Twede, H., Vanzo, R.J., and Butler, M.G. (2016). Chromosomal Microarray Analysis of Consecutive Individuals with Autism Spectrum Disorders Using an Ultra-High Resolution Chromosomal Microarray Optimized for Neurodevelopmental Disorders. Int. J. Mol. Sci., 17.","DOI":"10.3390\/ijms17122070"},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"Rafi, S.K., and Butler, M.G. (2020). The 15q11.2 BP1-BP2 Microdeletion (Burnside\u2013Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Disorders. Int. J. Mol. Sci., 21.","DOI":"10.37247\/PAMOLSCS.1.2020.17"},{"key":"ref_14","unstructured":"Delis, D.C., Kramer, J.H., Kaplan, E., and Ober, B.A. (2000). California Verbal Learning Test, Psychological Corporation. [2nd ed.]."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Dunn, L.M., and Dunn, D.M. (2007). Peabody Picture Vocabulary Test, Pearson Education. [4th ed.].","DOI":"10.1037\/t15144-000"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"271","DOI":"10.2466\/pms.1958.8.3.271","article-title":"Validity of the Trail Making Test as an Indicator of Organic Brain Damage","volume":"8","author":"Reitan","year":"1958","journal-title":"Percept. Mot. Skills"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1007\/s10803-008-0674-3","article-title":"Standardizing ADOS scores for a measure of severity in autism spectrum disorders","volume":"39","author":"Gotham","year":"2009","journal-title":"J. Autism Dev. Disord."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1037\/a0027214","article-title":"Patterns of developmental trajectories in toddlers with autism spectrum disorder","volume":"80","author":"Lord","year":"2012","journal-title":"J. Consult. Clin. Psychol."},{"key":"ref_19","unstructured":"Sparrow, S.S., Ciccheti, D.V., and Saulnier, C.A. (2016). Vineland Adaptive Behavior Scales, Pearson Education. [3rd ed.]."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s10803-008-0599-x","article-title":"Age-related differences in restricted repetitive behaviors in autism spectrum disorders","volume":"39","author":"Esbensen","year":"2009","journal-title":"J. Autism Dev. Disord."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1007\/s10803-006-0299-3","article-title":"The broad autism phenotype questionnaire","volume":"37","author":"Hurley","year":"2007","journal-title":"J. Autism Dev. Disord."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1002\/aur.1272","article-title":"The broad autism phenotype questionnaire: Prevalence and diagnostic classification","volume":"6","author":"Sasson","year":"2013","journal-title":"Autism Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1023\/A:1005596502855","article-title":"Varieties of repetitive behavior in autism: Comparisons to mental retardation","volume":"30","author":"Bodfish","year":"2000","journal-title":"J. Autism Dev. Disord."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"C407","DOI":"10.1152\/ajpcell.00124.2009","article-title":"Molecular identification of ancient and modern mammalian magnesium transporters","volume":"298","author":"Quamme","year":"2010","journal-title":"Am. J. Physiol. Cell Physiol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1086\/378817","article-title":"NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)","volume":"73","author":"Rainier","year":"2003","journal-title":"Am. J. Hum. Genet."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1","DOI":"10.15585\/mmwr.ss6904a1","article-title":"Prevalence of Autism Spectrum Disorder Among Children Aged 8 Years\u2014Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2016","volume":"69","author":"Maenner","year":"2020","journal-title":"MMWR Surv. Summ."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.ridd.2010.09.002","article-title":"Characterisation of balance capacity in Prader-Willi patients","volume":"32","author":"Capodaglio","year":"2011","journal-title":"Res. Dev. Disabil."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s11689-016-9178-1","article-title":"Postural orientation and equilibrium processes associated with increased postural sway in autism spectrum disorder (ASD)","volume":"8","author":"Wang","year":"2016","journal-title":"J. Neurodev. Disord."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"2238","DOI":"10.1007\/s10803-017-3144-y","article-title":"Standing Postural Control in Individuals with Autism Spectrum Disorder: Systematic Review and Meta-analysis","volume":"47","author":"Lim","year":"2017","journal-title":"J. Autism Dev. Disord"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s11689-018-9261-x","article-title":"Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers","volume":"11","author":"Wang","year":"2019","journal-title":"J. Neurodev. Disord."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1093\/hmg\/11.2.153","article-title":"Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics","volume":"11","author":"Errico","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1083\/jcb.200409058","article-title":"Linking axonal degeneration to microtubule remodeling by Spastin-mediated microtubule severing","volume":"168","author":"Evans","year":"2005","journal-title":"J. Cell Biol."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.jns.2005.03.040","article-title":"Spastin related hereditary spastic paraplegia with dysplastic corpus callosum","volume":"236","author":"Alber","year":"2005","journal-title":"J. Neurol. Sci."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/mds.20775","article-title":"Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)","volume":"21","author":"Munhoz","year":"2006","journal-title":"Mov. Disord."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.ejmg.2017.07.015","article-title":"A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder","volume":"60","author":"Matthews","year":"2017","journal-title":"Eur. J. Med. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1089\/gtmb.2011.0115","article-title":"Methylation-specific multiplex ligation-dependent probe amplification and identification of deletion genetic subtypes in Prader-Willi syndrome","volume":"16","author":"Henkhaus","year":"2012","journal-title":"Genet. Test Mol. Biomark."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1073\/pnas.1608576114","article-title":"Loss of the golgin GM130 causes Golgi disruption, Purkinje neuron loss, and ataxia in mice","volume":"114","author":"Liu","year":"2017","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"826","DOI":"10.1016\/j.cell.2010.10.029","article-title":"Reelin and stk25 have opposing roles in neuronal polarization and dendritic Golgi deployment","volume":"143","author":"Matsuki","year":"2010","journal-title":"Cell"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1359","DOI":"10.1093\/hmg\/3.8.1359","article-title":"Isolation of a diverged homeobox gene, MOX1, from the BRCA1 region on 17q21 by solution hybrid capture","volume":"3","author":"Futreal","year":"1994","journal-title":"Hum. Mol. Genet."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"4655","DOI":"10.1242\/dev.00687","article-title":"The concerted action of Meox homeobox genes is required upstream of genetic pathways essential for the formation, patterning and differentiation of somites","volume":"130","author":"Mankoo","year":"2003","journal-title":"Development"},{"key":"ref_41","first-page":"a004978","article-title":"The collagen family","volume":"3","year":"2011","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"345","DOI":"10.3109\/03008207.2013.822865","article-title":"The expanded collagen VI family: New chains and new questions","volume":"54","author":"Fitzgerald","year":"2013","journal-title":"Connect. Tissue Res."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1007\/s00439-010-0848-x","article-title":"CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation","volume":"128","author":"Mukhopadhyay","year":"2010","journal-title":"Hum. Genet."},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Wechsler, D., and Zhou, X. (2011). WASI-II: Wechsler Abbreviated Scale of Intelligence, The Pychological Corporation.","DOI":"10.1037\/t15171-000"},{"key":"ref_45","doi-asserted-by":"crossref","unstructured":"Wilkinson, G.S., and Robertson, G.J. (2006). WRAT 4: Wide Range Achievement Test, Psychological Assessment Resources.","DOI":"10.1037\/t27160-000"},{"key":"ref_46","unstructured":"Cohen, J. (1988). Statistical Power Analysis for the Behavioral Sciences, L. Erlbaum Associates. [2nd ed.]."},{"key":"ref_47","unstructured":"Andrews, S. (2020, June 10). FastQC: A Quality Control Tool for High Throughput Sequence Data. Available online: http:\/\/www.bioinformatics.babraham.ac.uk\/projects\/fastqc2010."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","article-title":"Fast and accurate short read alignment with Burrows-Wheeler transform","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics"},{"key":"ref_49","first-page":"11.10.1","article-title":"From FastQ data to high confidence variant calls: The Genome Analysis Toolkit best practices pipeline","volume":"43","author":"Carneiro","year":"2013","journal-title":"Curr. Protoc. Bioinform."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"80","DOI":"10.4161\/fly.19695","article-title":"A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3","volume":"6","author":"Cingolani","year":"2012","journal-title":"Fly"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl Variant Effect Predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: Predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"ref_53","first-page":"7.20.1","article-title":"Predicting functional effect of human missense mutations using PolyPhen-2","volume":"76","author":"Adzhubei","year":"2013","journal-title":"Curr. Protoc. Hum. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1126\/science.185.4154.862","article-title":"Amino acid difference formula to help explain protein evolution","volume":"185","author":"Grantham","year":"1974","journal-title":"Science"},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1093\/bioinformatics\/btt703","article-title":"Causal analysis approaches in Ingenuity Pathway Analysis","volume":"30","author":"Green","year":"2014","journal-title":"Bioinformatics"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"258","DOI":"10.3389\/fgene.2019.00258","article-title":"De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application","volume":"10","author":"Wang","year":"2019","journal-title":"Front. Genet."},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Davis, K.W., Serrano, M., Loddo, S., Robinson, C., Alesi, V., Dallapiccola, B., Novelli, A., and Butler, M.G. (2019). Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20061459"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/4\/1660\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T05:20:47Z","timestamp":1760160047000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/22\/4\/1660"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2,7]]},"references-count":57,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,2]]}},"alternative-id":["ijms22041660"],"URL":"https:\/\/doi.org\/10.3390\/ijms22041660","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,2,7]]}}}