Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
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- Authors
- Jacquemont, Sébastien; Reymond, Alexandre; Zufferey, Flore; Harewood, Louise; Walters, Robin G; Kutalik, Zoltán; Martinet, Danielle; Shen, Yiping; Valsesia, Armand; Beckmann, Noam D; Thorleifsson, Gudmar; Belfiore, Marco; Bouquillon, Sonia; Campion, Dominique; de Leeuw, Nicole; de Vries, Bert B A; Esko, Tõnu; Fernandez, Bridget A; Fernández-Aranda, Fernando; Fernández-Real, José Manuel; Gratacòs, Mònica; Guilmatre, Audrey; Hoyer, Juliane; Jarvelin, Marjo-Riitta; Kooy, R Frank; Kurg, Ants; Le Caignec, Cédric; Männik, Katrin; Platt, Orah S; Sanlaville, Damien; Van Haelst, Mieke M; Villatoro Gomez, Sergi; Walha, Faida; Wu, Bai-Lin; Yu, Yongguo; Aboura, Azzedine; Addor, Marie-Claude; Alembik, Yves; Antonarakis, Stylianos E; Arveiler, Benoît; Barth, Magalie; Bednarek, Nathalie; Béna, Frédérique; Bergmann, Sven; Beri, Mylène; Bernardini, Laura; Blaumeiser, Bettina; Bonneau, Dominique; Bottani, Armand; Boute, Odile; Brunner, Han G; Cailley, Dorothée; Callier, Patrick; Chiesa, Jean; Chrast, Jacqueline; Coin, Lachlan; Coutton, Charles; Cuisset, Jean-Marie; Cuvellier, Jean-Christophe; David, Albert; de Freminville, Bénédicte; Delobel, Bruno; Delrue, Marie-Ange; Demeer, Bénédicte; Descamps, Dominique; Didelot, Gérard; Dieterich, Klaus; Disciglio, Vittoria; Doco-Fenzy, Martine; Drunat, Séverine; Duban-Bedu, Bénédicte; Dubourg, Christèle; El-Sayed Moustafa, Julia S; Elliott, Paul; Faas, Brigitte H W; Faivre, Laurence; Faudet, Anne; Fellmann, Florence; Ferrarini, Alessandra; Fisher, Richard; Flori, Elisabeth; Forer, Lukas; Gaillard, Dominique; Gerard, Marion; Gieger, Christian; Gimelli, Stefania; Gimelli, Giorgio; Grabe, Hans J; Guichet, Agnès; Guillin, Olivier; Hartikainen, Anna-Liisa; Heron, Délphine; Hippolyte, Loyse; Holder, Muriel; Homuth, Georg; Isidor, Bertrand; Jaillard, Sylvie; Jaros, Zdenek; Jiménez-Murcia, Susana; Helas, Géraldine Joly; Jonveaux, Philippe; Kaksonen, Satu; Keren, Boris; Kloss-Brandstätter, Anita; Knoers, Nine V A M; Koolen, David A; Kroisel, Peter M; Kronenberg, Florian; Labalme, Audrey; Landais, Emilie; Lapi, Elisabetta; Layet, Valérie; Legallic, Solenn; Leheup, Bruno; Leube, Barbara; Lewis, Suzanne; Lucas, Josette; MacDermot, Kay D; Magnusson, Pall; Marshall, Christian; Mathieu-Dramard, Michèle; McCarthy, Mark I; Meitinger, Thomas; Mencarelli, Maria Antonietta; Merla, Giuseppe; Moerman, Alexandre; Mooser, Vincent; Morice-Picard, Fanny; Mucciolo, Mafalda; Nauck, Matthias; Ndiaye, Ndeye Coumba; Nordgren, Ann; Pasquier, Laurent; Petit, Florence; Pfundt, Rolph; Plessis, Ghislaine; Rajcan-Separovic, Evica; Ramelli, Gian Paolo; Rauch, Anita; Ravazzolo, Roberto; Reis, Andre; Renieri, Alessandra; Richart, Cristobal; Ried, Janina S; Rieubland, Claudine; Roberts, Wendy; Roetzer, Katharina M; Rooryck, Caroline; Rossi, Massimiliano; Saemundsen, Evald; Satre, Véronique; Schurmann, Claudia; Sigurdsson, Engilbert; Stavropoulos, Dimitri J; Stefansson, Hreinn; Tengström, Carola; Thorsteinsdóttir, Unnur; Tinahones, Francisco J; Touraine, Renaud; Vallée, Louis; van Binsbergen, Ellen; Van der Aa, Nathalie; Vincent-Delorme, Catherine; Visvikis-Siest, Sophie; Vollenweider, Peter; Völzke, Henry; Vulto-van Silfhout, Anneke T; Waeber, Gérard; Wallgren-Pettersson, Carina; Witwicki, Robert M; Zwolinksi, Simon; Andrieux, Joris; Estivill, Xavier; Gusella, James F; Gustafsson, Omar; Metspalu, Andres; Scherer, Stephen W; Stefansson, Kari; Blakemore, Alexandra I F; Beckmann, Jacques S; Froguel, Philippe
- Year
- 2011
- Journal
- Nature
- PMID
- 21881559
- DOI
- 10.1038/nature10406
- PMCID
- PMC3637175
Both obesity and being underweight have been associated with increased mortality. Underweight, defined as a body mass index (BMI) ≤ 18.5 kg per m(2) in adults and ≤ -2 standard deviations from the mean in children, is the main sign of a series of heterogeneous clinical conditions including failure to thrive, feeding and eating disorder and/or anorexia nervosa. In contrast to obesity, few genetic variants underlying these clinical conditions have been reported. We previously showed that hemizygosity of a ∼600-kilobase (kb) region on the short arm of chromosome 16 causes a highly penetrant form of obesity that is often associated with hyperphagia and intellectual disabilities. Here we show that the corresponding reciprocal duplication is associated with being underweight. We identified 138 duplication carriers (including 132 novel cases and 108 unrelated carriers) from individuals clinically referred for developmental or intellectual disabilities (DD/ID) or psychiatric disorders, or recruited from population-based cohorts. These carriers show significantly reduced postnatal weight and BMI. Half of the boys younger than five years are underweight with a probable diagnosis of failure to thrive, whereas adult duplication carriers have an 8.3-fold increased risk of being clinically underweight. We observe a trend towards increased severity in males, as well as a depletion of male carriers among non-medically ascertained cases. These features are associated with an unusually high frequency of selective and restrictive eating behaviours and a significant reduction in head circumference. Each of the observed phenotypes is the converse of one reported in carriers of deletions at this locus. The phenotypes correlate with changes in transcript levels for genes mapping within the duplication but not in flanking regions. The reciprocal impact of these 16p11.2 copy-number variants indicates that severe obesity and being underweight could have mirror aetiologies, possibly through contrasting effects on energy balance.
Effect of the 16p11.2 duplication on BMI and head circumferenceZ-score values of BMI (top row) and head circumference (bottom row) of 16p11.2 duplication carriers stratified by gender and age group. The most severe effect is observed in children 0–5 years of age. Abscise: age groups in years. Boxplots represent the 5th, 25th, median, 75th and 95th percentile for each age group. Light grey and dark grey background represent −2 and −3 SD respectively, which correspond to the WHO definition of moderate and severe underweight4. BMI is decreased in adolescent and adult females.
Transcript levels for genes within and near to the 16p11.2 rearrangements(A) Relative expression levels in boxplot format of 27 genes mapping to 16p11.2 in deletion and duplication carriers (red and green, respectively) and control cell lines (blue). Grey lines denote the extent of the 16p11.2 CNV (29.5–30.1 Mb). Complete lists of genes mapping within the rearranged interval and of the quantitative PCR assays can be consulted in Supplementary Table S1 and S11, respectively. Possible relevance of each of these genes to obesity/leanness and/or developmental delay/cognitive deficits can be consulted in 13.(B) Rank comparison (Kruskal-Wallis test) between expression of 27 genes mapping to 16p11.2 in deletion and duplication carriers (red and green, respectively) and control cell lines (blue).Distinction is made between genes mapping telomeric (or centromeric) to the rearranged interval and those within the rearranged interval. Dots correspond to the mean group rank and bars indicate the comparison interval, groups with non-overlapping intervals are significantly different (at α=5%).
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| Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO. | Scott DA et al. | — | 2017 | → |
| Developmental trajectories for young children with 16p11.2 copy number variation. | Bernier R et al. | — | 2017 | → |
| Dosage-sensitive genes in evolution and disease. | Rice AM et al. | — | 2017 | → |
| Dosage sensitivity is a major determinant of human copy number variant pathogenicity. | Rice AM et al. | — | 2017 | → |
| Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index. | Hinney A et al. | — | 2017 | → |
| Genetic Approaches to Understanding Psychiatric Disease. | Michaelson JJ | — | 2017 | → |
| Long-term effects of bariatric surgery in patients with obesity and chromosome 16 p11.2 microdeletion. | Kristensson FM et al. | — | 2017 | → |
| Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases. | Govaerts L et al. | — | 2017 | → |
| Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach. | Fernandez BA et al. | — | 2017 | → |
| The 16p11.2 homologs fam57ba and doc2a generate certain brain and body phenotypes. | McCammon JM et al. | — | 2017 | → |
| The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs. | Loviglio MN et al. | — | 2017 | → |
| The Yin and Yang of Autism Genetics: How Rare De Novo and Common Variations Affect Liability. | Chaste P et al. | — | 2017 | → |
| Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. | C Yuen RK et al. | — | 2017 | → |
| 16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort. | Steinman KJ et al. | — | 2016 | → |
| 16p11.2 Locus modulates response to satiety before the onset of obesity. | Maillard AM et al. | — | 2016 | → |
| A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. | Fedorenko E et al. | — | 2016 | → |
| A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity. | Biamino E et al. | — | 2016 | → |
| Autism Spectrum Disorder, Developmental and Psychiatric Features in 16p11.2 Duplication. | Green Snyder L et al. | — | 2016 | → |
| Beyond the Diagnosis: A Path Toward Understanding Behavior Through the Lens of Rare Genetics. | Moreno-De-Luca D | — | 2016 | → |
| Copy number variants in the population: unselected does not mean unaffected. | Mefford HC | — | 2016 | → |
| Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. | D'Angelo D et al. | — | 2016 | → |
| Deletion and duplication of 16p11.2 are associated with opposing effects on visual evoked potential amplitude. | LeBlanc JJ et al. | — | 2016 | → |
| Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility. | Nuttle X et al. | — | 2016 | → |
| Genetic identification of thiosulfate sulfurtransferase as an adipocyte-expressed antidiabetic target in mice selected for leanness. | Morton NM et al. | — | 2016 | → |
| Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2. | Degenhardt F et al. | — | 2016 | → |
| Maternal Body Mass Index and Risk of Autism Spectrum Disorders in Offspring: A Meta-analysis. | Wang Y et al. | — | 2016 | → |
| Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV. | Duyzend MH et al. | — | 2016 | → |
| New quality measure for SNP array based CNV detection. | Macé A et al. | — | 2016 | → |
| Progress from genome-wide association studies and copy number variant studies in epilepsy. | Leu C et al. | — | 2016 | → |
| Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity. | Pigeyre M et al. | — | 2016 | → |
| Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes. | Arbogast T et al. | — | 2016 | → |
| Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications. | Chang YS et al. | — | 2016 | → |
| Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications. | Torres F et al. | — | 2016 | → |
| Relationship between M100 Auditory Evoked Response and Auditory Radiation Microstructure in 16p11.2 Deletion and Duplication Carriers. | Berman JI et al. | — | 2016 | → |
| Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants. | Leitsalu L et al. | — | 2016 | → |
| Reversal of dendritic phenotypes in 16p11.2 microduplication mouse model neurons by pharmacological targeting of a network hub. | Blizinsky KD et al. | — | 2016 | → |
| Smell-taste dysfunctions in extreme weight/eating conditions: analysis of hormonal and psychological interactions. | Fernández-Aranda F et al. | — | 2016 | → |
| Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014. | Aas M et al. | — | 2016 | → |
| Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? | Hackmann K et al. | — | 2016 | → |
| The Evolving Diagnostic and Genetic Landscapes of Autism Spectrum Disorder. | Ziats MN et al. | — | 2016 | → |
| The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition. | Hippolyte L et al. | — | 2016 | → |
| 16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions. | Yang M et al. | — | 2015 | → |
| Abnormal auditory and language pathways in children with 16p11.2 deletion. | Berman JI et al. | — | 2015 | → |
| A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity. | Hasstedt SJ et al. | — | 2015 | → |
| A copy number variation map of the human genome. | Zarrei M et al. | — | 2015 | → |
| A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. | Migliavacca E et al. | — | 2015 | → |
| Characterizing autism spectrum disorders by key biochemical pathways. | Subramanian M et al. | — | 2015 | → |
| Cohort Profile: Estonian Biobank of the Estonian Genome Center, University of Tartu. | Leitsalu L et al. | — | 2015 | → |
| Copy number variation and brain structure: lessons learned from chromosome 16p11.2. | Stein JL | — | 2015 | → |
| Copy number variations and cognitive phenotypes in unselected populations. | Männik K et al. | — | 2015 | → |
| Detection and correction of artefacts in estimation of rare copy number variants and analysis of rare deletions in type 1 diabetes. | Cooper NJ et al. | — | 2015 | → |
| Discovery of Rare Mutations in Autism: Elucidating Neurodevelopmental Mechanisms. | Gamsiz ED et al. | — | 2015 | → |
| Fine Mapping of a GWAS-Derived Obesity Candidate Region on Chromosome 16p11.2. | Volckmar AL et al. | — | 2015 | → |
| [Genetic and epigenetic mechanisms in obesity]. | Hinney A et al. | — | 2015 | → |
| Genetic and phenotypic variation in UGT2B17, a testosterone-metabolizing enzyme, is associated with BMI in males. | Zhu AZ et al. | — | 2015 | → |
| Genetic epidemiology and insights into interactive genetic and environmental effects in autism spectrum disorders. | Kim YS et al. | — | 2015 | → |
| Genome engineering of isogenic human ES cells to model autism disorders. | Martinez RA et al. | — | 2015 | → |
| Genome-wide association studies of human adiposity: Zooming in on synapses. | Sandholt CH et al. | — | 2015 | → |
| Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1. | El Khattabi L et al. | — | 2015 | → |
| Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR. | Oguro-Ando A et al. | — | 2015 | → |
| Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications. | Hudac CM et al. | — | 2015 | → |
| Non-coding genetic variants in human disease. | Zhang F et al. | — | 2015 | → |
| Obesity and Autism. | Hill AP et al. | — | 2015 | → |
| Obesity and genomics: role of technology in unraveling the complex genetic architecture of obesity. | Apalasamy YD et al. | — | 2015 | → |
| Obesity genetics in mouse and human: back and forth, and back again. | Yazdi FT et al. | — | 2015 | → |
| Structural variation mutagenesis of the human genome: Impact on disease and evolution. | Lupski JR | — | 2015 | → |
| TBX6 null variants and a common hypomorphic allele in congenital scoliosis. | Wu N et al. | — | 2015 | → |
| The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. | Maillard AM et al. | — | 2015 | → |
| The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous population. | Al-Qattan SM et al. | — | 2015 | → |
| The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population. | Hanson E et al. | — | 2015 | → |
| The evolving spectrum of PRRT2-associated paroxysmal diseases. | Ebrahimi-Fakhari D et al. | — | 2015 | → |
| The Genetics of Pediatric Obesity. | Chesi A et al. | — | 2015 | → |
| The impact of human copy number variation on gene expression. | Gamazon ER et al. | — | 2015 | → |
| The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles. | Kusenda M et al. | — | 2015 | → |
| The processing of food stimuli in abnormal eating: a systematic review of electrophysiology. | Wolz I et al. | — | 2015 | → |
| 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy. | Reinthaler EM et al. | — | 2014 | → |
| Aberrant white matter microstructure in children with 16p11.2 deletions. | Owen JP et al. | — | 2014 | → |
| A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity. | González JR et al. | — | 2014 | → |
| A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer. | Fernandez-Rozadilla C et al. | — | 2014 | → |
| A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus. | Oei L et al. | — | 2014 | → |
| A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders. | Jacquemont S et al. | — | 2014 | → |
| A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. | Dimassi S et al. | — | 2014 | → |
| Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. | Talkowski ME et al. | — | 2014 | → |
| Biological relevance of CNV calling methods using familial relatedness including monozygotic twins. | Castellani CA et al. | — | 2014 | → |
| Brain MRI abnormalities and spectrum of neurological and clinical findings in three patients with proximal 16p11.2 microduplication. | Filges I et al. | — | 2014 | → |
| CNVs conferring risk of autism or schizophrenia affect cognition in controls. | Stefansson H et al. | — | 2014 | → |
| Combined immunodeficiency in a 3-year-old boy with 16p11.2 and 20p12.2-11.2 chromosomal duplications. | Batanian JR et al. | — | 2014 | → |
| Common variant at 16p11.2 conferring risk of psychosis. | Steinberg S et al. | — | 2014 | → |
| Constitutional thinness and anorexia nervosa: a possible misdiagnosis? | Estour B et al. | — | 2014 | → |
| Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. | Hodge JC et al. | — | 2014 | → |
| Eating in the absence of hunger but not loss of control behaviors are associated with 16p11.2 deletions. | Gill R et al. | — | 2014 | → |
| Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders. | Huguet G et al. | — | 2014 | → |
| Identification of structural variation in mouse genomes. | Keane TM et al. | — | 2014 | → |
| Impact of the gut microbiota on the development of obesity and type 2 diabetes mellitus. | Moreno-Indias I et al. | — | 2014 | → |
| Investigation of selected genomic deletions and duplications in a cohort of 338 patients presenting with syndromic obesity by multiplex ligation-dependent probe amplification using synthetic probes. | D'Angelo CS et al. | — | 2014 | → |
| Loss of control over eating: a description of the eating disorder/obesity spectrum in women. | Villarejo C et al. | — | 2014 | → |
| Low copy number of the salivary amylase gene predisposes to obesity. | Falchi M et al. | — | 2014 | → |
| Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures. | Giannuzzi G et al. | — | 2014 | → |
| Ohnologs are overrepresented in pathogenic copy number mutations. | McLysaght A et al. | — | 2014 | → |
| On the association of common and rare genetic variation influencing body mass index: a combined SNP and CNV analysis. | Peterson RE et al. | — | 2014 | → |
| Opposing brain differences in 16p11.2 deletion and duplication carriers. | Qureshi AY et al. | — | 2014 | → |
| Opposite effects on facial morphology due to gene dosage sensitivity. | Hammond P et al. | — | 2014 | → |
| Recent challenges to the psychiatric diagnostic nosology: a focus on the genetics and genomics of neurodevelopmental disorders. | Kim YS et al. | — | 2014 | → |
| Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. | Al-Kateb H et al. | — | 2014 | → |
| SH2B1 regulation of energy balance, body weight, and glucose metabolism. | Rui L | — | 2014 | → |
| The CF-modifying gene EHF promotes p.Phe508del-CFTR residual function by altering protein glycosylation and trafficking in epithelial cells. | Stanke F et al. | — | 2014 | → |
| The effect of homozygous deletion of the BBOX1 and Fibin genes on carnitine level and acyl carnitine profile. | Rashidi-Nezhad A et al. | — | 2014 | → |
| The genetic landscape of autism spectrum disorders. | Rosti RO et al. | — | 2014 | → |
| The genetics of human obesity. | Waalen J | — | 2014 | → |
| The impact of chromosomal rearrangements on regulation of gene expression. | Harewood L et al. | — | 2014 | → |
| Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. | Blumenthal I et al. | — | 2014 | → |
| Advances in the neurobiology of eating disorders. | van Elburg A et al. | — | 2013 | → |
| A functional role for structural variation in metabolism. | Lacaria M et al. | — | 2013 | → |
| Association of obesity susceptibility gene variants with metabolic syndrome and related traits in 1,443 Czech adolescents. | Dušátková L et al. | — | 2013 | → |
| Autism spectrum disorder in the genetics clinic: a review. | Carter MT et al. | — | 2013 | → |
| Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample. | Szatkiewicz JP et al. | — | 2013 | → |
| Detection and interpretation of genomic structural variation in health and disease. | Vandeweyer G et al. | — | 2013 | → |
| Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence. | Moreno-De-Luca A et al. | — | 2013 | → |
| Diametric gene-dosage effects as windows into neurogenetic architecture. | Crespi B | — | 2013 | → |
| Dicentric Chromosome 14;18 Plus Two Additional CNVs in a Girl with Microform Holoprosencephaly and Turner Stigmata. | Sireteanu A et al. | — | 2013 | → |
| Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder. | Newbury DF et al. | — | 2013 | → |
| From obesity genetics to the future of personalized obesity therapy. | El-Sayed Moustafa JS et al. | — | 2013 | → |
| Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly. | Rosenfeld JA et al. | — | 2013 | → |
| Genetic analysis of low BMI phenotype in the Utah Population Database. | Yates WR et al. | — | 2013 | → |
| Genetic and epigenetic control of metabolic health. | Schwenk RW et al. | — | 2013 | → |
| Genetic architecture of reciprocal CNVs. | Golzio C et al. | — | 2013 | → |
| Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. | Cousminer DL et al. | — | 2013 | → |
| Ghrelin: central and peripheral implications in anorexia nervosa. | Méquinion M et al. | — | 2013 | → |
| Molecular genetic aspects of weight regulation. | Hebebrand J et al. | — | 2013 | → |
| Patient with dup(5)(q35.2-q35.3) reciprocal to the common Sotos syndrome deletion and review of the literature. | Žilina O et al. | — | 2013 | → |
| Phenotypic impact of genomic structural variation: insights from and for human disease. | Weischenfeldt J et al. | — | 2013 | → |
| Prioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database. | Menashe I et al. | — | 2013 | → |
| Purging behavior modulates the relationships of hormonal and behavioral parameters in women with eating disorders. | del Mar Grasa M et al. | — | 2013 | → |
| Rare genomic structural variants in complex disease: lessons from the replication of associations with obesity. | Walters RG et al. | — | 2013 | → |
| Spanish human proteome project: dissection of chromosome 16. | Segura V et al. | — | 2013 | → |
| Structural variation-associated expression changes are paralleled by chromatin architecture modifications. | Gheldof N et al. | — | 2013 | → |
| Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. | Callier P et al. | — | 2013 | → |
| Technology-driven and evidence-based genomic analysis for integrated pediatric and prenatal genetics evaluation. | Wei Y et al. | — | 2013 | → |
| The genetic landscapes of autism spectrum disorders. | Huguet G et al. | — | 2013 | → |
| The genetics of human obesity. | Xia Q et al. | — | 2013 | → |
| The Growing Importance of CNVs: New Insights for Detection and Clinical Interpretation. | Valsesia A et al. | — | 2013 | → |
| Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. | Moreno-De-Luca D et al. | — | 2013 | → |
| Worldwide population distribution of the common LCE3C-LCE3B deletion associated with psoriasis and other autoimmune disorders. | Bassaganyas L et al. | — | 2013 | → |
| A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. | Zufferey F et al. | — | 2012 | → |
| A duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and men. | Lacaria M et al. | — | 2012 | → |
| Association testing of copy number variants in schizophrenia and autism spectrum disorders. | Crespi BJ et al. | — | 2012 | → |
| Autism multiplex family with 16p11.2p12.2 microduplication syndrome in monozygotic twins and distal 16p11.2 deletion in their brother. | Tabet AC et al. | — | 2012 | → |
| Beyond the fourth wave of genome-wide obesity association studies. | Sandholt CH et al. | — | 2012 | → |
| CNVs: harbingers of a rare variant revolution in psychiatric genetics. | Malhotra D et al. | — | 2012 | → |
| Copy number variants in obesity-related syndromes: review and perspectives on novel molecular approaches. | D'Angelo CS et al. | — | 2012 | → |
| Developmental psychopathology: the role of structural variation in the genome. | Gill M | — | 2012 | → |
| Executive functions profile in extreme eating/weight conditions: from anorexia nervosa to obesity. | Fagundo AB et al. | — | 2012 | → |
| Exploring the role of copy number variants in human adaptation. | Iskow RC et al. | — | 2012 | → |
| Genetic architecture in autism spectrum disorder. | Devlin B et al. | — | 2012 | → |
| Genetic architectures of psychiatric disorders: the emerging picture and its implications. | Sullivan PF et al. | — | 2012 | → |
| Genetic determinants of common obesity and their value in prediction. | Loos RJ | — | 2012 | → |
| Genetic investigation for adults with intellectual disability: opportunities and challenges. | Baker K et al. | — | 2012 | → |
| Genetics: Fish heads and human disease. | Malhotra D et al. | — | 2012 | → |
| Genomics, intellectual disability, and autism. | Mefford HC et al. | — | 2012 | → |
| Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort. | Valsesia A et al. | — | 2012 | → |
| Immuno-microbiota cross and talk: the new paradigm of metabolic diseases. | Burcelin R et al. | — | 2012 | → |
| KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. | Golzio C et al. | — | 2012 | → |
| Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders. | Boulding H et al. | — | 2012 | → |
| Modeling of autism genetic variations in mice: focusing on synaptic and microcircuit dysfunctions. | Qiu S et al. | — | 2012 | → |
| Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants. | Volckmar AL et al. | — | 2012 | → |
| Recent advances in obesity: genetics and beyond. | Cheung WW et al. | — | 2012 | → |
| Regulatory element copy number differences shape primate expression profiles. | Iskow RC et al. | — | 2012 | → |
| Simons Variation in Individuals Project (Simons VIP): a genetics-first approach to studying autism spectrum and related neurodevelopmental disorders. | Simons Vip Consortium | — | 2012 | → |
| The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome. | Vandeweyer G et al. | — | 2012 | → |
| The genetic variability and commonality of neurodevelopmental disease. | Coe BP et al. | — | 2012 | → |
| Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes. | Blaker-Lee A et al. | — | 2012 | → |
| ZNF764 haploinsufficiency may explain partial glucocorticoid, androgen, and thyroid hormone resistance associated with 16p11.2 microdeletion. | Kino T et al. | — | 2012 | → |