Research & Literature

Developmental presentation, medical complexities, and service delivery for a child with 16p11.2 deletion syndrome.

Bamonte L

Pediatric physical therapy : the official publication of the Section on Pediatrics of the American Physical Therapy Association 2015; (27(1)):90-9 doi:10.1097/PEP.0000000000000105.

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

Wu N, Ming X, Xiao J, et al.

The New England journal of medicine 2015; (372(4)):341-50 doi:10.1056/NEJMoa1406829.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2015; (17(5)):405-24 doi:10.1038/gim.2015.30.

Genetic and structural variation in the SH2B1 gene in the Belgian population.

Aerts E, Beckers S, Zegers D, et al.

Molecular genetics and metabolism 2015; (115(4)):193-8.

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.

Duyzend MH, Nuttle X, Coe BP, et al.

American journal of human genetics 2016; (98(1)):45-57.

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.

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.

Steinman KJ, Spence SJ, Ramocki MB, et al.

American journal of medical genetics. Part A 2016; (170(11)):2943-2955 doi:10.1002/ajmg.a.37820.

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.

The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.

Loviglio MN, Arbogast T, Jønch AE, et al.

American journal of human genetics 2017; (101(4)):564-577 doi:10.1016/j.ajhg.2017.08.016.

Diversity in peptide recognition by the SH2 domain of SH2B1.

McKercher MA, Guan X, Tan Z, Wuttke DS

Proteins 2018; (86(2)):164-176 doi:10.1002/prot.25420.

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.

The Effect of SH2B1 Variants on Expression of Leptin- and Insulin-Induced Pathways in Murine Hypothalamus.

Giuranna J, Volckmar AL, Heinen A, et al.

Obesity facts 2018; (11(2)):93-108 doi:10.1159/000486962.

An Update on Common Chromosome Microdeletion and Microduplication Syndromes.

Goldenberg P

Pediatric annals 2018; (47(5)):e198-e203 doi:10.3928/19382359-20180419-01.

PRRT2-related phenotypes in patients with a 16p11.2 deletion.

Vlaskamp DRM, Callenbach PMC, Rump P, et al.

European journal of medical genetics 2019; (62(4)):265-269 doi:10.1016/j.ejmg.2018.08.002.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L, Jensen M, Polyak A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(4)):816-825 doi:10.1038/s41436-018-0266-3.

Quantitative gait assessment in children with 16p11.2 syndrome.

Goldman S, McCullough AK, Young SD, et al.

Journal of neurodevelopmental disorders 2019; (11(1)):26 doi:10.1186/s11689-019-9286-9.

Leptin receptor-expressing neuron Sh2b1 supports sympathetic nervous system and protects against obesity and metabolic disease.

Jiang L, Su H, Wu X, et al.

Nature communications 2020; (11(1)):1517 doi:10.1038/s41467-020-15328-3.

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.

Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome.

Kleinendorst L, van den Heuvel LM, Henneman L, van Haelst MM

European journal of human genetics : EJHG 2020; (28(9)):1196-1204 doi:10.1038/s41431-020-0644-6.

Phenotypes Associated with 16p11.2 Copy Number Gains and Losses at a Single Institution.

Chu C, Wu H, Xu F, et al.

Laboratory medicine 2020; (51(6)):642-648 doi:10.1093/labmed/lmaa026.

Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriers.

Hudac CM, Bove J, Barber S, et al.

Autism research : official journal of the International Society for Autism Research 2020; (13(8)):1300-1310 doi:10.1002/aur.2332.

A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants.

Chawner SJRA, Doherty JL, Anney RJL, et al.

The American journal of psychiatry 2021; (178(1)):77-86 doi:10.1176/appi.ajp.2020.20010015.

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs.

Sønderby IE, Ching CRK, Thomopoulos SI, et al.

Human brain mapping 2022; (43(1)):300-328 doi:10.1002/hbm.25354.

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.

Effects of glucagon-like peptide-1 analogue treatment in genetic obesity: A case series.

Welling MS, de Groot CJ, Kleinendorst L, et al.

Clinical obesity 2021; (11(6)):e12481 doi:10.1111/cob.12481.

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.

Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.

Zouk H, Yu W, Oza A, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(2)):454-462 doi:10.1016/j.gim.2021.10.010.

Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion.

Ji X, Gao Y, Zhang P, et al.

Stem cell research 2022; (59()):102634 doi:10.1016/j.scr.2021.102634.

Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review.

Yue F, Xi Q, Zhang X, et al.

Taiwanese journal of obstetrics & gynecology 2022; (61(3)):544-550 doi:10.1016/j.tjog.2022.03.027.

[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.

Measuring hyperphagia in patients with monogenic and syndromic obesity.

Zorn S, von Schnurbein J, Schirmer M, et al.

Appetite 2022; (178()):106161 doi:10.1016/j.appet.2022.106161.

Sensory processing in 16p11.2 deletion and 16p11.2 duplication.

Smith H, Lane C, Al-Jawahiri R, Freeth M

Autism research : official journal of the International Society for Autism Research 2022; (15(11)):2081-2098 doi:10.1002/aur.2802.

Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p.

Weiner DJ, Ling E, Erdin S, et al.

Nature genetics 2022; (54(11)):1630-1639 doi:10.1038/s41588-022-01203-y.

SH2B1 variants as potential causes of non-syndromic monogenic obesity in a Brazilian cohort.

da Fonseca ACP, Assis ISS, Salum KCR, et al.

Eating and weight disorders : EWD 2022; (27(8)):3665-3674 doi:10.1007/s40519-022-01506-3.

How do members of the public expect to use variants of uncertain significance in their health care? A population-based survey.

Mighton C, Clausen M, Shickh S, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(5)):100819 doi:10.1016/j.gim.2023.100819.

The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.

Woodbury-Smith M, D'Abate L, Stavropoulos DJ, et al.

Journal of medical genetics 2023; (60(12)):1153-1160 doi:10.1136/jmg-2022-108818.

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.

Health supervision for children and adolescents with 16p11.2 deletion syndrome.

Chung WK, Herrera FF,

Cold Spring Harbor molecular case studies 2023; (9(4)) doi:10.1101/mcs.a006316.

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.

Variant classification changes over time in the clinical molecular diagnostic laboratory setting.

Hahn E, Mighton C, Fisher Y, et al.

Journal of medical genetics 2024; (61(8)):788-793 doi:10.1136/jmg-2023-109772.

SH2B1 Defends Against Energy Imbalance, Obesity, and Metabolic Disease via a Paraventricular Hypothalamus→Dorsal Raphe Nucleus Neurocircuit.

Li Y, Kim MH, Jiang L, et al.

Advanced science (Weinheim, Baden-Wurttemberg, Germany) 2024; (11(31)):e2400437 doi:10.1002/advs.202400437.

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.

Endogenous SH2B1 protein localizes to lamellipodia and filopodia: platinum replica electron-microscopy study.

Diakonova M, Carter-Su C, Svitkina T

microPublication biology 2025; (2025()) doi:10.17912/micropub.biology.001451.

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.

MaveMD: A functional data resource for genomic medicine.

McEwen AE, Stone J, Tejura M, et al.

medRxiv : the preprint server for health sciences 2025; doi:10.1101/2025.11.15.25336228.

Reclassification of variants of uncertain significance in type I collagen genes: a national reference laboratory experience.

Supari N, Baker D, Keigwin S, et al.

Journal of medical genetics 2026; (63(5)):277-283 doi:10.1136/jmg-2025-111334.

Combinatorial effects of gene dosage, polygenic background and environment on complex traits.

Sacks MF, Klein M, Bigdeli TB, et al.

medRxiv : the preprint server for health sciences 2026; doi:10.64898/2026.04.30.26352063.

[Prenatal ultrasound and genetic characteristics of 60 fetuses with 16p11.2 microdeletion].

Pan L, Wu J, Duan S, et al.

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2026; (51(4)):737-743 doi:10.11817/j.issn.1672-7347.2026.260007.

Coexistence of a Novel OCRL Variant and a Pathogenic 16p11.2 Deletion in a Patient with Renal and Neurodevelopmental Manifestations Suggestive of Atypical Dent Disease Type 2-A Case Report.

Chronis C, Stefanaki C, Stergiou N, et al.

Journal of clinical medicine 2026; (15(14)) doi:10.3390/jcm15145613.

Contrasting outcomes of 16p11.2 microdeletion and microduplication in prenatal diagnosis: phenotypic variability and genetic counseling strategies.

Guo Q, Zhang L, Zuo Y, et al.

Psychiatric genetics 2026; (36(3)):151-155 doi:10.1097/YPG.0000000000000421.

The Importance of Familial Co-segregation in the Classification of a Novel PKD1 Variant Associated With Autosomal Dominant Polycystic Kidney Disease.

Vasconcelos AP, Rocha L, Fernandes S, Oliveira JP

American journal of medical genetics. Part A 2026; doi:10.1002/ajmg.a.70298.

Metabolic dysfunction-associated steatotic liver disease assessment and management: Clinical practice guidance from the Canadian Association for the Study of the Liver.

Kehar M, Ramji A, Swain M, et al.

Canadian liver journal 2026; (9(3)):345-388 doi:10.3138/canlivj-2026-9-3-guidelines.