Research & Literature

16p11.2 Locus modulates response to satiety before the onset of obesity.

Maillard AM, Hippolyte L, Rodriguez-Herreros B, et al.

International journal of obesity (2005) 2016; (40(5)):870-6 doi:10.1038/ijo.2015.247.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Loviglio MN, Leleu M, Männik K, et al.

Molecular psychiatry 2017; (22(6)):836-849 doi:10.1038/mp.2016.84.

Developmental trajectories for young children with 16p11.2 copy number variation.

Bernier R, Hudac CM, Chen Q, et al.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2017; (174(4)):367-380 doi:10.1002/ajmg.b.32525.

Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene.

Li L, Huang L, Lin S, et al.

American journal of medical genetics. Part A 2017; (173(8)):2284-2288 doi:10.1002/ajmg.a.38284.

Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions.

Demopoulos C, Kothare H, Mizuiri D, et al.

Scientific reports 2018; (8(1)):1274 doi:10.1038/s41598-018-19751-x.

Deep phenotyping of speech and language skills in individuals with 16p11.2 deletion.

Mei C, Fedorenko E, Amor DJ, et al.

European journal of human genetics : EJHG 2018; (26(5)):676-686 doi:10.1038/s41431-018-0102-x.

16p11.2 microdeletion syndrome: a case report.

Dell'Edera D, Dilucca C, Allegretti A, et al.

Journal of medical case reports 2018; (12(1)):90 doi:10.1186/s13256-018-1587-1.

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.

Iyer J, Singh MD, Jensen M, et al.

Nature communications 2018; (9(1)):2548 doi:10.1038/s41467-018-04882-6.

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Verbitsky M, Westland R, Perez A, et al.

Nature genetics 2019; (51(1)):117-127 doi:10.1038/s41588-018-0281-y.

Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.

Sadler B, Haller G, Antunes L, et al.

Journal of medical genetics 2019; (56(7)):427-433 doi:10.1136/jmedgenet-2018-105877.

Psychotic symptoms in 16p11.2 copy-number variant carriers.

Jutla A, Turner JB, Green Snyder L, et al.

Autism research : official journal of the International Society for Autism Research 2020; (13(2)):187-198 doi:10.1002/aur.2232.

Ocular Findings in the 16p11.2 Microdeletion Syndrome: A Case Report and Literature Review.

Stingl CS, Jackson-Cook C, Couser NL

Case reports in pediatrics 2020; (2020()):2031701 doi:10.1155/2020/2031701.

Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.

Yang N, Wu N, Dong S, et al.

Kidney international 2020; (98(4)):1020-1030 doi:10.1016/j.kint.2020.04.045.

Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriers.

Xie H, Liu F, Zhang Y, et al.

Molecular genetics & genomic medicine 2020; (8(11)):e1485 doi:10.1002/mgg3.1485.

Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models.

Martin Lorenzo S, Nalesso V, Chevalier C, et al.

Molecular autism 2021; (12(1)):1 doi:10.1186/s13229-020-00405-7.

Chromosome 15q BP4-BP5 Deletion in a Girl with Nocturnal Frontal Lobe Epilepsy, Migraine, Circumscribed Hypertrichosis, and Language Impairment.

Pavone P, Pappalardo XG, Ohazuruike UNN, et al.

Journal of epilepsy research 2020; (10(2)):84-91 doi:10.14581/jer.20014.

16p11.2 deletion syndrome.

Chung WK, Roberts TP, Sherr EH, et al.

Current opinion in genetics & development 2021; (68()):49-56 doi:10.1016/j.gde.2021.01.011.

Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly.

Szelest M, Stefaniak M, Ręka G, et al.

BMC medical genomics 2021; (14(1)):76 doi:10.1186/s12920-021-00929-8.

Transcriptome analysis of human neural cells derived from isogenic embryonic stem cells with 16p11.2 deletion.

Nomura Y, Nomura J, Kamiguchi H, et al.

Neuroscience research 2021; (171()):114-123 doi:10.1016/j.neures.2021.03.005.

Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism.

Urresti J, Zhang P, Moran-Losada P, et al.

Molecular psychiatry 2021; (26(12)):7560-7580 doi:10.1038/s41380-021-01243-6.

Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis.

Lai W, Feng X, Yue M, et al.

Genes 2021; (12(8)) doi:10.3390/genes12081213.

Characterizing Sleep Problems in 16p11.2 Deletion and Duplication.

Kamara D, De Boeck P, Lecavalier L, et al.

Journal of autism and developmental disorders 2023; (53(4)):1462-1475 doi:10.1007/s10803-021-05311-2.

Genetic Obesity in Children: Overview of Possible Diagnoses with a Focus on SH2B1 Deletion.

Giannopoulou EZ, Zorn S, Schirmer M, et al.

Hormone research in paediatrics 2022; (95(2)):137-148 doi:10.1159/000520402.

A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome.

Komatsu K, Fukumura S, Minagawa K, et al.

Brain & development 2022; (44(7)):474-479 doi:10.1016/j.braindev.2022.03.008.

[Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children].

Lai CY, Chen RH, Zhong CL, et al.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2022; (24(5)):585-590 doi:10.7499/j.issn.1008-8830.2111110.

Prenatally diagnosed 16p11.2 copy number variations by SNP Array: A retrospective case series.

Liu N, Li H, Li M, et al.

Clinica chimica acta; international journal of clinical chemistry 2023; (538()):15-21 doi:10.1016/j.cca.2022.10.016.

Language and Communication Deficits in Chromosome 16p11.2 Deletion Syndrome.

Jiménez-Romero MS, Fernández-Urquiza M, Benítez-Burraco A

Journal of speech, language, and hearing research : JSLHR 2022; (65(12)):4724-4740 doi:10.1044/2022_JSLHR-22-00160.

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region.

Moufawad El Achkar C, Rosen A, Kessler SK, et al.

Neurology. Genetics 2022; (8(5)):e200018 doi:10.1212/NXG.0000000000200018.

Prenatal Diagnosis of Chromosome 16p11.2 Microdeletion.

Wang Y, Zhou H, Fu F, et al.

Genes 2022; (13(12)) doi:10.3390/genes13122315.

16p11.2 deletion accelerates subpallial maturation and increases variability in human iPSC-derived ventral telencephalic organoids.

Fetit R, Barbato MI, Theil T, et al.

Development (Cambridge, England) 2023; (150(4)) doi:10.1242/dev.201227.

Chromosomal deletions on 16p11.2 encompassing SH2B1 are associated with accelerated metabolic disease.

Hanssen R, Auwerx C, Jõeloo M, et al.

Cell reports. Medicine 2023; (4(8)):101155 doi:10.1016/j.xcrm.2023.101155.

Diversity of Clinical and Molecular Characteristics in Korean Patients with 16p11.2 Microdeletion Syndrome.

Han JY, Cho YG, Jo DS, Park J

International journal of molecular sciences 2023; (25(1)) doi:10.3390/ijms25010253.

Pervasive alterations of intra-axonal volume and network organization in young children with a 16p11.2 deletion.

Maillard AM, Romascano D, Villalón-Reina JE, et al.

Translational psychiatry 2024; (14(1)):95 doi:10.1038/s41398-024-02810-5.

Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.

Vos N, Kleinendorst L, van der Laan L, et al.

European journal of human genetics : EJHG 2024; (32(11)):1387-1401 doi:10.1038/s41431-024-01601-2.

Association of behavioural and social-communicative profiles in children with 16p11.2 copy number variants: a multi-site study.

Verbesselt J, Walsh LK, Mitchel MW, et al.

Journal of intellectual disability research : JIDR 2024; (68(8)):969-984 doi:10.1111/jir.13141.

Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes.

Leone R, Zuglian C, Brambilla R, Morella I

Frontiers in pharmacology 2024; (15()):1407865 doi:10.3389/fphar.2024.1407865.

Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication.

Yue F, Hao M, Jiang D, et al.

BMC pregnancy and childbirth 2024; (24(1)):494 doi:10.1186/s12884-024-06702-w.

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.

Mitrakos AK, Kosma K, Makrythanasis P, Tzetis M

Genes 2024; (15(8)) doi:10.3390/genes15081053.

Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype.

Elsayed LEO, AlHarbi NA, Alqarni AM, et al.

Human genomics 2024; (18(1)):95 doi:10.1186/s40246-024-00662-0.

The pleiotropic spectrum of proximal 16p11.2 CNVs.

Auwerx C, Kutalik Z, Reymond A

American journal of human genetics 2024; (111(11)):2309-2346 doi:10.1016/j.ajhg.2024.08.015.

TAOK2 Drives Opposing Cilia Length Deficits in 16p11.2 Deletion and Duplication Carriers.

Ferreccio A, Byeon S, Cornell M, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.10.07.617069.

Genomic deletions on 16p11.2 associated with severe obesity in Brazil.

da Silva Assis IS, Salum KCR, Felício RFM, et al.

Frontiers in endocrinology 2024; (15()):1495534 doi:10.3389/fendo.2024.1495534.

PRRT 2-Related Epilepsy: From Self-Limited Infantile Epilepsy to Atypical Epilepsy Phenotypes.

Komar M, Sidhu J, Joseph J, et al.

Neurology. Genetics 2025; (11(3)):e200267 doi:10.1212/NXG.0000000000200267.

Motor Impairment in Children with 16p11.2-Deletion and -Duplication Syndromes.

Soliman P, Goin-Kochel RP, Alexander G

Journal of autism and developmental disorders 2025; doi:10.1007/s10803-025-06874-0.