Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Open accessAbstract
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.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
16p11.2 deletions are associated with macrocephaly and obesity, while duplications often lead to microcephaly and low body weight/BMI.
“Deletions of 16p11.2 are associated with increased head circumference (macrocephaly) [10, 12, 17, 23] and obesity [10, 12, 16, 20], whereas duplications often result in below average head size (microcephaly) [10, 17, 23, 24] and low body weight/BMI [10, 24].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [24]
In individuals with neurodevelopmental disorders, genetic screenings find 16p11.2 deletions at rates of 0.25-2.9% and duplications at rates of 0.15-0.78%.
“Data compiled from eight studies [13, 15–17, 20, 24, 26, 33] screening individuals with either ASD, ID, developmental delay (DD), dysmorphic features (DF), multiple congenital anomalies (MCA), obesity, or seizures find 16p11.2 deletions at rates of 0.25–2.9%, and duplications at rates between 0.15–0.78% (Table 1).”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [24]
Birth parameters for 16p11.2 duplication carriers are generally normal, indicating a postnatal effect.
“Birth parameters for 16p11.2 duplication carriers are generally normal [24], indicating a postnatal effect.”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [24]
BMI of 16p11.2 duplication patients is significantly lower than controls.
“Conversely, BMI of 16p11.2 duplication patients is significantly lower than controls [10, 24].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [24]
Bipolar disorder is reported in 16p11.2 duplication carriers.
“Bipolar disorder is also reported in 16p11.2 duplication carriers [9, 14, 24].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [24]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method
Livak, K. J., & Schmittgen, T. D. (2001) · Methods · doi:10.1006/meth.2001.1262 · Cited by 180,860 · see citing works
Vandesompele, J., De Preter, K., Pattyn, F., Poppe, B., Van Roy, N., De Paepe, A., & Speleman, F. (2002) · Genome Biology · doi:10.1186/gb-2002-3-7-research0034 · Cited by 20,038 · see citing works
Development of a WHO growth reference for school-aged children and adolescents
de Onis, M. (2007) · Bulletin of the World Health Organization · doi:10.2471/blt.07.043497 · Cited by 8,826 · see citing works
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
Faith, M. S., Carnell, S., & Kral, T. V. E. (2013) · Human Heredity · doi:10.1159/000353879 · Cited by 7,628 · see citing works
Spitzer, R. L. (1978) · Archives of General Psychiatry · doi:10.1001/archpsyc.1978.01770300115013 · Cited by 6,946 · see citing works
Endicott, J. (1978) · Archives of General Psychiatry · doi:10.1001/archpsyc.1978.01770310043002 · Cited by 5,686 · see citing works
CDC growth charts: United States.
Kuczmarski, R. J., Ogden, C. L., Grummer‐Strawn, L. M., Flegal, K. M., Guo, S. S., Wei, R. X., Mei, Z., Curtin, L. R., Roche, A. F., & Johnson, C. L. (2000) · PubMed · Cited by 5,298 · see citing works
Diagnostic and Statistical Manual of Mental Disorders ( DSM ‐ IV ‐ TR )
Segal, D. L. (2010) · Wiley eBooks · doi:10.1002/9780470479216.corpsy0271 · Cited by 4,683 · see citing works
Hellemans, J., Mortier, G., De Paepe, A., Speleman, F., & Vandesompele, J. (2007) · Genome Biology · doi:10.1186/gb-2007-8-2-r19 · Cited by 4,023 · see citing works
Mutation of the mouse klotho gene leads to a syndrome resembling ageing
Kuro-o, M., Matsumura, Y., Aizawa, H., Kawaguchi, H., Suga, T., Utsugi, T., Ohyama, Y., Kurabayashi, M., Kaname, T., Kume, E., et al. (1997) · Nature · doi:10.1038/36285 · Cited by 3,837 · see citing works
Schouten, J. P. (2002) · Nucleic Acids Research · doi:10.1093/nar/gnf056 · Cited by 2,705 · see citing works
Body-mass index and mortality among 1.46 million white adults
Berrington de Gonzalez, A., Hartge, P., Cerhan, J. R., Flint, A. J., Hannan, L., MacInnis, R. J., Moore, S. C., Tobias, G. S., Anton-Culver, H., Freeman, L. B., et al. (2010) · New England Journal of Medicine · doi:10.1056/nejmoa1000367 · Cited by 2,317 · see citing works
Circular binary segmentation for the analysis of array-based DNA copy number data
Olshen, A. B., Venkatraman, E. S., Lucito, R., & Wigler, M. H. (2004) · Biostatistics · doi:10.1093/biostatistics/kxh008 · Cited by 2,256 · see citing works
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · see citing works
Self-citationWang, K., Li, M., Hadley, D., Liu, R., Glessner, J., Grant, S. F. A., Hakonarson, H., & Bucan, M. (2007) · Genome Research · doi:10.1101/gr.6861907 · Cited by 1,792 · see citing works
the GIANT Consortium (2009) · Nature Genetics · doi:10.1038/ng.287 · Cited by 1,720 · see citing works
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes
Stranger, B. E., Forrest, M. S., Dunning, M., Ingle, C., Beazley, C., Thorne, N., Redon, R., Bird, C., Grassi, A., Lee, C., et al. (2007) · Science · doi:10.1126/science.1136678 · Cited by 1,709 · see citing works
Self-citationAssociation between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666 · see citing works
Self-citationCause-Specific Excess Deaths Associated With Underweight, Overweight, and Obesity
Flegal, K. M., Graubard, B. I., Williamson, D. F., & Gail, M. H. (2007) · JAMA · doi:10.1001/jama.298.17.2028 · Cited by 1,542 · see citing works
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., Zhang, H., Estes, A., Brune, C. W., Bradfield, J. P., et al. (2009) · Nature · doi:10.1038/nature07953 · Cited by 1,421 · see citing works
Body Mass Index variations: centiles from birth to 87 years.
Rolland‐Cachera, M., Cole, T. J., Sempe, M., Tichet, J., Rossignol, C., & Charraud, A.-M. (1991) · PubMed · Cited by 1,127 · see citing works
Evidence of Brain Overgrowth in the First Year of Life in Autism
Courchesne, E. (2003) · JAMA · doi:10.1001/jama.290.3.337 · Cited by 1,120 · see citing works
Cohort Profile: The Study of Health in Pomerania
Völzke, H., Alte, D., Schmidt, C. O., Radke, D., Lorbeer, R., Friedrich, N., Aumann, N., Lau, K., Piontek, K., Born, G., et al. (2010) · International Journal of Epidemiology · doi:10.1093/ije/dyp394 · Cited by 992 · see citing works
Self-citationMei, Z., Grummer‐Strawn, L. M., Pietrobelli, A., Goulding, A., Goran, M. I., & Dietz, W. H. (2002) · American Journal of Clinical Nutrition · doi:10.1093/ajcn/75.6.978 · Cited by 986 · see citing works
A faster circular binary segmentation algorithm for the analysis of array CGH data
Venkatraman, E. S., & Olshen, A. B. (2007) · Bioinformatics · doi:10.1093/bioinformatics/btl646 · Cited by 963 · see citing works
Korn, J. M., Kuruvilla, F. G., McCarroll, S. A., Wysoker, A., Nemesh, J., Cawley, S., Hubbell, E., Veitch, J., Collins, P. J., Darvishi, K., et al. (2008) · Nature Genetics · doi:10.1038/ng.237 · Cited by 783 · see citing works
Morris, J., & Gardner, M. J. (1988) · BMJ · doi:10.1136/bmj.296.6632.1313 · Cited by 764 · see citing works
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
Sabatti, C., Service, S. K., Hartikainen, A., Pouta, A. M., Ripatti, S., Brodsky, J. F., Jones, C. G., Zaitlen, N., Varilo, T., Kaakinen, M., et al. (2008) · Nature Genetics · doi:10.1038/ng.271 · Cited by 721 · see citing works
Self-citationFirmann, M., Mayor, V., Marques-Vidal, P. M., Bochud, M., Pécoud, A. R., Hayoz, D., Paccaud, F. M., Preisig, M., Song, K. S., Yuan, X., et al. (2008) · BMC Cardiovascular Disorders · doi:10.1186/1471-2261-8-6 · Cited by 715 · see citing works
Self-citationMicroduplications of 16p11.2 are associated with schizophrenia
Wellcome Trust Case Control Consortium, McCarthy, S. E., Makarov, V., Kirov, G., Addington, A. M., McClellan, J., Yoon, S., Perkins, D. O., Dickel, D. E., Kusenda, M., et al. (2009) · Nature Genetics · doi:10.1038/ng.474 · Cited by 711 · see citing works
Abraxas and RAP80 Form a BRCA1 Protein Complex Required for the DNA Damage Response
Wang, B., Matsuoka, S., Ballif, B. A., Zhang, D., Smogorzewska, A., Gygi, S. P., & Elledge, S. J. (2007) · Science · doi:10.1126/science.1139476 · Cited by 695 · see citing works
Prader, A., Largo, R. H., Molinari, L., & Issler, C. (1989) · PubMed · Cited by 677 · see citing works
Meyre, D., Delplanque, J., Chèvre, J.-C., Lecœur, C., Lobbens, S., Gallina, S., Durand, E., Vatin, V., Degraeve, F., Cavalcanti-Proença, C., et al. (2009) · Nature Genetics · doi:10.1038/ng.301 · Cited by 648 · see citing works
Self-citationAssociation Between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647 · see citing works
Self-citationPsychosis and autism as diametrical disorders of the social brain
Crespi, B. J., & Badcock, C. R. (2008) · Behavioral and Brain Sciences · doi:10.1017/s0140525x08004214 · Cited by 618 · see citing works
Colella, S., Yau, C., Taylor, J. M., Mirza, G., Butler, H., Clouston, P., Bassett, A. S., Seller, A., Holmes, C. C., & Ragoussis, J. (2007) · Nucleic Acids Research · doi:10.1093/nar/gkm076 · Cited by 616 · see citing works
Large, rare chromosomal deletions associated with severe early-onset obesity
Bochukova, E. G., Huang, N., Keogh, J., Henning, E., Purmann, C., Blaszczyk, K., Saeed, S., Hamilton-Shield, J., Clayton-Smith, J., O’Rahilly, S., et al. (2010) · Nature · doi:10.1038/nature08689 · Cited by 613 · see citing works
Shinawi, M., Liu, P., Kang, S.-H. L., Shen, J., Belmont, J. W., Scott, D. A., Probst, F. J., Craigen, W. J., Graham, B. H., Pursley, A., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.073015 · Cited by 580 · see citing works
Williams, N. M., Zaharieva, I., Martin, A., Langley, K., Mantripragada, K., Fossdal, R., Stefansson, H., Stefansson, K., Magnusson, P., Gudmundsson, O. O., et al. (2010) · The Lancet · doi:10.1016/s0140-6736(10)61109-9 · Cited by 572 · see citing works
John, U., Hensel, E., L�demann, J., Piek, M., Sauer, S., Adam, C., Born, G., Alte, D., Greiser, E. M., Haertel, U., et al. (2001) · Sozial- und Präventivmedizin · doi:10.1007/bf01324255 · Cited by 547 · see citing works
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
Walters, R. G., Jacquemont, S., Valsesia, A., de Smith, A. J., Martinet, D., Andersson, J., Falchi, M., Chen, F., Andrieux, J., Lobbens, S., et al. (2010) · Nature · doi:10.1038/nature08727 · Cited by 543 · see citing works
Self-citationComparison of the WHO Child Growth Standards and the CDC 2000 Growth Charts
de Onís, M., Garza, C., Onyango, A. W., & Borghi, E. (2007) · Journal of Nutrition · doi:10.1093/jn/137.1.144 · Cited by 480 · see citing works
Guilmatre, A., Dubourg, C., Mosca, A.-L., Legallic, S., Goldenberg, A., Drouin-Garraud, V., Layet, V., Rosier, A., Briault, S., Bonnet-Brilhault, F., et al. (2009) · Archives of General Psychiatry · doi:10.1001/archgenpsychiatry.2009.80 · Cited by 429 · see citing works
Self-citationGenetic Structure of Europeans: A View from the North–East
Nelis, M., Esko, T., Mägi, R., Zimprich, F., Zimprich, A. A., Toncheva, D. I., Karachanak-Yankova, S., Piskackova, T., Balaščák, I., Peltonen, L., et al. (2009) · PLoS ONE · doi:10.1371/journal.pone.0005472 · Cited by 425 · see citing works
Self-citationKORA-gen - Resource for Population Genetics, Controls and a Broad Spectrum of Disease Phenotypes
Wichmann, H. ‐., Gieger, C., & Illig, T. (2005) · Das Gesundheitswesen · doi:10.1055/s-2005-858226 · Cited by 417 · see citing works
Self-citationFeeding and eating disorders in childhood
Bryant‐Waugh, R., Markham, L., Kreipe, R. E., & Walsh, B. T. (2010) · International Journal of Eating Disorders · doi:10.1002/eat.20795 · Cited by 416 · see citing works
Li, Y., Dai, Q., Jackson, J. C., & Zhang, J. (2008) · Obesity · doi:10.1038/oby.2008.296 · Cited by 387 · see citing works
Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms
Diskin, S. J., Li, M., Hou, C., Yang, S., Glessner, J., Hakonarson, H. H., Bućan, M., Maris, J. M., & Wang, K. (2008) · Nucleic Acids Research · doi:10.1093/nar/gkn556 · Cited by 350 · see citing works
Fernandez, B. A., Roberts, W., Chung, B., Weksberg, R., Meyn, S., Szatmari, P., Joseph-George, A. M., MacKay, S., Whitten, K., Noble, B., et al. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2009.069369 · Cited by 335 · see citing works
Self-citationSegmental copy number variation shapes tissue transcriptomes
Hor, C. N., Vinckenbosch, N., Zöllner, S. K., Chaignat, E., Pradervand, S., Schütz, F., Rüedi, M., Kaessmann, H., & Reymond, A. (2009) · Nature Genetics · doi:10.1038/ng.345 · Cited by 312 · see citing works
Self-citationEstimates of Global Prevalence of Childhood Underweight in 1990 and 2015
de Onís, M. (2004) · JAMA · doi:10.1001/jama.291.21.2600 · Cited by 290 · see citing works
Bijlsma, E. K., Gijsbers, A. C. J., Schuurs-Hoeijmakers, J. H. M., van Haeringen, A., Fransen van de Putte, D. E., Anderlid, B.-M., Lundin, J., Lapunzina, P., Pérez Jurado, L. A., Delle Chiaie, B., et al. (2009) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2009.03.006 · Cited by 282 · see citing works
Self-citationWhole genome DNA copy number changes identified by high density oligonucleotide arrays
Huang, J., Wei, W., Zhang, J., Liu, G., Bignell, G. R., Stratton, M. R., Futreal, P. A., Wooster, R., Jones, K. W., & Shapero, M. H. (2004) · Human Genomics · doi:10.1186/1479-7364-1-4-287 · Cited by 279 · see citing works
Phenotypic variability and genetic susceptibility to genomic disorders
Girirajan, S., & Eichler, E. E. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq366 · Cited by 271 · see citing works
Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification
Bunyan, D. J., Eccles, D., Sillibourne, J., et al. (2004) · British Journal of Cancer · doi:10.1038/sj.bjc.6602121 · Cited by 264 · see citing works
Comparative genomics of autism and schizophrenia
Crespi, B., Stead, P., & Elliot, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906080106 · Cited by 262 · see citing works
A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa
Wang, K., Zhang, H., Bloss, C. S., Duvvuri, V, Kaye, W., Schork, N. J., Berrettini, W., Hakonarson, H., & the Price Foundation Collaborative Group (2011) · Molecular Psychiatry · doi:10.1038/mp.2010.107 · Cited by 212 · see citing works
Merla, G., Howald, C., Hor, C. N., Lyle, R., Wyss, C., Zabot, M. T., Antonarakis, S. E., & Reymond, A. (2006) · The American Journal of Human Genetics · doi:10.1086/506371 · Cited by 178 · see citing works
Self-citationMetabolic syndrome with the atypical antipsychotics
Pramyothin, P., & Khaodhiar, L. (2010) · Current Opinion in Endocrinology Diabetes and Obesity · doi:10.1097/med.0b013e32833de61c · Cited by 173 · see citing works
Corbett, S. S., & Drewett, R. F. (2004) · Journal of Child Psychology and Psychiatry · doi:10.1111/j.1469-7610.2004.00253.x · Cited by 160 · see citing works
Olsen, E. M., Petersen, J., Skovgaard, A. M., Weile, B., Jørgensen, T., & Wright, C. M. (2006) · Archives of Disease in Childhood · doi:10.1136/adc.2005.080333 · Cited by 149 · see citing works
Ricard, G., Molina, J., Chrast, J., Gu, W., Gheldof, N., Pradervand, S., Schütz, F., Young, J. I., Lupski, J. R., Reymond, A., et al. (2010) · PLoS Biology · doi:10.1371/journal.pbio.1000543 · Cited by 147 · see citing works
Self-citationEstimation and assessment of raw copy numbers at the single locus level
Bengtsson, H. L., Irizarry, R. A., Carvalho, B. S., & Speed, T. P. (2008) · Bioinformatics · doi:10.1093/bioinformatics/btn016 · Cited by 143 · see citing works
Ribasés, M., Gratacòs, M., Fernández‐Aranda, F., Bellodi, L., Boni, C., Anderluh, M. B., Cavallini, M. C., Cellini, E., Bella, D. D., Erzegovesi, S., et al. (2004) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201351 · Cited by 142 · see citing works
Self-citationRapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA)
Slater, H. R., Bruno, D. L., Ren, H., Pertile, M. D., Schouten, J. P., & Choo, K. H. A. (2003) · Journal of Medical Genetics · doi:10.1136/jmg.40.12.907 · Cited by 131 · see citing works
Marioni, J. C., Thorne, N., Valsesia, A., Fitzgerald, T. W., Redon, R., Fiegler, H., Andrews, T. D., Stranger, B. E., Lynch, A. G., Dermitzakis, E. T., et al. (2007) · Genome biology · doi:10.1186/gb-2007-8-10-r228 · Cited by 129 · see citing works
Self-citationMei, Z., Ogden, C. L., Flegal, K. M., & Grummer‐Strawn, L. M. (2008) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2008.05.048 · Cited by 122 · see citing works
Classification of Eating Disturbance in Children and Adolescents: Proposed Changes for the DSM-V
Bravender, T., Bryant-Waugh, R., Herzog, D. B., Katzman, D., Kriepe, R., Lask, B., Grange, D. L., Lock, J. E., Loeb, K. L., Marcus, M. D., et al. (2010) · European eating disorders review · doi:10.1002/erv.994 · Cited by 117 · see citing works
Complement Factor H Is Expressed in Adipose Tissue in Association With Insulin Resistance
Moreno‐Navarrete, J. M., Martínez‐Barricarte, R., Catalán, V., Sabater, M., Gómez‐Ambrosi, J., Ortega, F. J., Ricart, W., Blüher, M., Frühbeck, G., de Córdoba, S. R., et al. (2009) · Diabetes · doi:10.2337/db09-0700 · Cited by 116 · see citing works
Self-citationWhat is the long term outcome for children who fail to thrive? A systematic review
RUDOLF, M. C. J. (2005) · Archives of Disease in Childhood · doi:10.1136/adc.2004.050179 · Cited by 110 · see citing works
Magnússon, P., Smári, J., Sigurðardóttir, D. B., Baldursson, G., Sigmundsson, J., Kristjánsson, K., Sigurðardóttir, S., Hreiðarsson, S., Sigurbjörnsdóttir, S., & Guðmundsson, Ó. Ó. (2006) · Journal of Attention Disorders · doi:10.1177/1087054705283650 · Cited by 98 · see citing works
Mercader, J. M., Ribasés, M., Gratacòs, M., González, J. R., Bayés, M., de Cid, R., Badia, A. M. T. I., Fernández‐Aranda, F., & Estivill, X. (2007) · Genes Brain & Behavior · doi:10.1111/j.1601-183x.2007.00301.x · Cited by 95 · see citing works
Self-citationFernández, L., Lapunzina, P. D., Arjona, D., et al. (2005) · Clinical Genetics · doi:10.1111/j.1399-0004.2005.00493.x · Cited by 90 · see citing works
Eating disorders: the current status of molecular genetic research
Scherag, S., Hebebrand, J., & Hinney, A. (2009) · European Child & Adolescent Psychiatry · doi:10.1007/s00787-009-0085-9 · Cited by 88 · see citing works
Gubern, C. (2006) · Diabetes · doi:10.2337/diabetes.55.1.216 · Cited by 86 · see citing works
Molina, J., Carmona-Mora, P., Chrast, J., Krall, P. M., Canales, C. P., Lupski, J. R., Reymond, A., & Walz, K. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn148 · Cited by 83 · see citing works
Self-citationMagnusson, P., Smári, J., Gretarsdottir, H., & prandardottir, H. (1999) · Scandinavian Journal of Psychology · doi:10.1111/1467-9450.404130 · Cited by 78 · see citing works
Self-citationMoreno‐Navarrete, J. M., Ortega, F. J., Bassols, J., Castro, A., Ricart, W., & Fernández‐Real, J. M. (2007) · Clinical Chemistry · doi:10.1373/clinchem.2007.095943 · Cited by 78 · see citing works
Self-citationRegulation of carboxylesterase 1 (CES1) in human adipose tissue
Jernås, M., Olsson, B., Arner, P., Jacobson, P., Sjöström, L., Walley, A. J., Froguel, P., McTernan, P. G., Hoffstedt, J., & Carlsson, L. M. S. (2009) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2009.03.120 · Cited by 68 · see citing works
Self-citationVisvikis‐Siest, S., & Siest, G. (2008) · Clinical Chemistry and Laboratory Medicine (CCLM) · doi:10.1515/cclm.2008.178 · Cited by 59 · see citing works
Self-citationTinahones, F. J., Garrido‐Sánchez, L., Miranda, M., García‐Almeida, J. M., Macías‐González, M., Ceperuelo‐Mallafré, V., Gluckmann, E., Rivas-Marín, J., Vendrell, J. J., & García‐Fuentes, E. (2010) · Obesity Surgery · doi:10.1007/s11695-010-0194-z · Cited by 57 · see citing works
Self-citationGabrovsek, M., Anderluh, M. B., Bellodi, L., Cellini, E., Bella, D. D., Estivill, X., Fernández‐Aranda, F., Freeman, B., Geller, F., Gratacòs, M., et al. (2003) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.20085 · Cited by 49 · see citing works
Self-citationcnvHap: an integrative population and haplotype–based multiplatform model of SNPs and CNVs
Coin, L., Asher, J. E., Walters, R. G., Moustafa, J. S. E.-S., de Smith, A. J., SLADEK, R. M., Balding, D. J., Froguel, P., & Blakemore, A. I. F. (2010) · Nature Methods · doi:10.1038/nmeth.1466 · Cited by 48 · see citing works
Self-citationAcquired Microcephaly: Causes, Patterns, Motor and IQ Effects, and Associated Growth Changes
Baxter, P., Rigby, A. S., Rotsaert, M. H. E. P. D., et al. (2009) · PEDIATRICS · doi:10.1542/peds.2008-2784 · Cited by 40 · see citing works
Bengtsson, H. L., Ray, A., Spellman, P. T., et al. (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp074 · Cited by 37 · see citing works
López‐Bermejo, A., Chico-Julià, B., Castro, A., Recasens, M., Esteve, E., Biarnés, J., Casamitjana, R., Ricart, W., & Fernández‐Real, J. M. (2007) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/atvbaha.106.138594 · Cited by 35 · see citing works
Self-citationValsesia, A., Stevenson, B. J., Waterworth, D. M., Mooser, V., Vollenweider, P., Waeber, G., Jongeneel, C. V., Beckmann, J. S., Kutalik, Z., & Bergmann, S. (2012) · BMC Genomics · doi:10.1186/1471-2164-13-241 · Cited by 18 · see citing works
Self-citationGrowth diagrams 1997. Fourth Dutch nation-wide survey
Verloove-Vanhorick, S. P., Wit, J. M., & Fredriks, A. M. (1999) · Cited by 5 · see citing works
Evolution of the human life cycle
Bogin, B., & Smith, B. H. (1996) · American Journal of Human Biology · doi:10.1002/(sici)1520-6300(1996)8:6
Flagged first, then by citations
Research works printed but not linked: 1
- [26]WHO Physical status: the use and interpretation of anthropometry Report of a WHO Expert Committee 1995 8594834
Cited by
Sorted by citations
Genetic architectures of psychiatric disorders: the emerging picture and its implications
Sullivan, P. F., Daly, M. J., & O'Donovan, M. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3240 · Cited by 1,177 · see citing works
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
C Yuen, R. K., Merico, D., Bookman, M., L Howe, J., Thiruvahindrapuram, B., Patel, R. V., Whitney, J., Deflaux, N., Bingham, J., Wang, Z., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4524 · Cited by 844 · see citing works
Self-citationA copy number variation map of the human genome
Zarrei, M., MacDonald, J. R., Merico, D., & Scherer, S. W. (2015) · Nature Reviews Genetics · doi:10.1038/nrg3871 · Cited by 921 · see citing works
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Malhotra, D., & Sebat, J. (2012) · Cell · doi:10.1016/j.cell.2012.02.039 · Cited by 854 · see citing works
CNVs conferring risk of autism or schizophrenia affect cognition in controls
Stefansson, H., Meyer-Lindenberg, A., Steinberg, S., Magnusdottir, B., Morgen, K., Arnarsdottir, S., Bjornsdottir, G., Walters, G. B., Jonsdottir, G. A., Doyle, O. M., et al. (2014) · Nature · doi:10.1038/nature12818 · Cited by 699 · see citing works
Self-citationJacquemont, S., Coe, B. P., Hersch, M., Duyzend, M. H., Krumm, N., Bergmann, S., Beckmann, J. S., Rosenfeld, J. A., & Eichler, E. E. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.02.001 · Cited by 605 · see citing works
Self-citationGenetic architecture in autism spectrum disorder
Devlin, B., & Scherer, S. W. (2012) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2012.03.002 · Cited by 545 · see citing works
Self-citationKCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Golzio, C., Willer, J., Talkowski, M. E., Oh, E. C., Taniguchi, Y., Jacquemont, S., Reymond, A., Sun, M., Sawa, A., Gusella, J. F., et al. (2012) · Nature · doi:10.1038/nature11091 · Cited by 410 · see citing works
Self-citationA 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Zufferey, F., Sherr, E. H., Beckmann, N. D., Hanson, E., Maillard, A. M., Hippolyte, L., Macé, A., Ferrari, C., Kutalik, Z., Andrieux, J., et al. (2012) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2012-101203 · Cited by 326 · see citing works
Self-citationDevelopmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Moreno-De-Luca, A., Myers, S. M., Challman, T. D., Moreno-De-Luca, D., Evans, D. W., & Ledbetter, D. H. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70011-5 · Cited by 330 · see citing works
Genomics, Intellectual Disability, and Autism
Mefford, H. C., Batshaw, M. L., & Hoffman, E. P. (2012) · New England Journal of Medicine · doi:10.1056/nejmra1114194 · Cited by 329 · see citing works
Hanson, E., Bernier, R., Porche, K., Jackson, F. I., Goin-Kochel, R. P., Snyder, L. G., Snow, A. V., Wallace, A. S., Campe, K. L., Zhang, Y., et al. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2014.04.021 · Cited by 277 · see citing works
Low copy number of the salivary amylase gene predisposes to obesity
Falchi, M., El-Sayed Moustafa, J. S., Takousis, P., Pesce, F., Bonnefond, A., Andersson-Assarsson, J. C., Sudmant, P. H., Dorajoo, R., Al-Shafai, M. N., Bottolo, L., et al. (2014) · Nature Genetics · doi:10.1038/ng.2939 · Cited by 254 · see citing works
Self-citationSteinman, K. J., Spence, S. J., Ramocki, M. B., Proud, M. B., Kessler, S. K., Marco, E. J., Green Snyder, L., D'Angelo, D., Chen, Q., Chung, W. K., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37820 · Cited by 218 · see citing works
The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity
16p11.2 European Consortium, Maillard, A. M., Ruef, A., Pizzagalli, F., Migliavacca, E., Hippolyte, L., Adaszewski, S., Dukart, J., Ferrari, C., Conus, P., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.145 · Cited by 217 · see citing works
Self-citationCousminer, D. L., Berry, D. J., Timpson, N. J., Ang, W., Thiering, E., Byrne, E. M., Taal, H. R., Huikari, V., Bradfield, J. P., Kerkhof, M., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt104 · Cited by 209 · see citing works
Self-citationKendall, K. M., Rees, E., Escott-Price, V., Einon, M., Thomas, R., Hewitt, J., O’Donovan, M. C., Owen, M. J., Walters, J. T. R., & Kirov, G. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.08.014 · Cited by 226 · see citing works
Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., et al. (2019) · Genetics in Medicine · doi:10.1038/s41436-018-0266-3 · Cited by 193 · see citing works
Self-citationMedical consequences of pathogenic CNVs in adults: analysis of the UK Biobank
Crawford, K., Bracher-Smith, M., Owen, D., Kendall, K. M., Rees, E., Pardiñas, A. F., Einon, M., Escott-Price, V., Walters, J. T. R., O’Donovan, M. C., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105477 · Cited by 175 · see citing works
Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers
Qureshi, A. Y., Mueller, S., Snyder, A. Z., Mukherjee, P., Berman, J. I., Roberts, T. P. L., Nagarajan, S. S., Spiro, J. E., Chung, W. K., Sherr, E. H., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.1366-14.2014 · Cited by 183 · see citing works
Arbogast, T., Ouagazzal, A.-M., Chevalier, C., Kopanitsa, M., Afinowi, N., Migliavacca, E., Cowling, B. S., Birling, M.-C., Champy, M.-F., Reymond, A., et al. (2016) · PLOS Genetics · doi:10.1371/journal.pgen.1005709 · Cited by 151 · see citing works
Self-citationThe Simons VIP Consortium (2012) · Neuron · doi:10.1016/j.neuron.2012.02.014 · Cited by 165 · see citing works
16p11.2 Copy Number Variations and Neurodevelopmental Disorders
Rein, B., & Yan, Z. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.09.001 · Cited by 160 · see citing works
Moreno-De-Luca, D., Sanders, S. J., Willsey, A. J., Mulle, J. G., Lowe, J. K., Geschwind, D. H., State, M. W., Martin, C. L., & Ledbetter, D. H. (2013) · Molecular Psychiatry · doi:10.1038/mp.2012.138 · Cited by 161 · see citing works
Blumenthal, I., Ragavendran, A., Erdin, S., Klei, L., Sugathan, A., Guide, J. R., Manavalan, P., Zhou, J. Q., Wheeler, V. C., Levin, J. Z., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.05.004 · Cited by 145 · see citing works
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
2p15 Consortium, Loviglio, M. N., 16p11.2 Consortium, Leleu, M., Männik, K., Passeggeri, M., Giannuzzi, G., van der Werf, I., Waszak, S. M., Zazhytska, M., et al. (2017) · Molecular Psychiatry · doi:10.1038/mp.2016.84 · Cited by 118 · see citing works
Self-citationAberrant white matter microstructure in children with 16p11.2 deletions
Owen, J. P., Chang, Y. S., Pojman, N. J., Bukshpun, P., Wakahiro, M. L. J., Marco, E. J., Berman, J. I., Spiro, J. E., Chung, W. K., Buckner, R. L., et al. (2014) · The Journal of Neuroscience · doi:10.1523/jneurosci.4495-13.2014 · Cited by 113 · see citing works
Common variant at 16p11.2 conferring risk of psychosis
Steinberg, S., de Jong, S., Mattheisen, M., Costas, J., Demontis, D., Jamain, S., Pietiläinen, O. P. H., Lin, K., Papiol, S., Huttenlocher, J., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2012.157 · Cited by 104 · see citing works
Yang, M., Mahrt, E. J., Lewis, F., Foley, G., Portmann, T., Dolmetsch, R. E., Portfors, C. V., & Crawley, J. N. (2015) · Autism Research · doi:10.1002/aur.1465 · Cited by 96 · see citing works
Martin-Brevet, S., Rodríguez-Herreros, B., Nielsen, J. A., Moreau, C., Modenato, C., Maillard, A. M., Pain, A., Richetin, S., Jønch, A. E., Qureshi, A. Y., et al. (2018) · Biological Psychiatry · doi:10.1016/j.biopsych.2018.02.1176 · Cited by 75 · see citing works
Self-citationThe number of genomic copies at the 16p11.2 locus modulates language, verbal memory, and inhibition
Hippolyte, L., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Martin-Brevet, S., Ferrari, C., Conus, P., Macé, A., Hadjikhani, N., Metspalu, A., et al. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.10.021 · Cited by 84 · see citing works
Self-citationReciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications
Chang, Y. S., Owen, J. P., Pojman, N. J., Thieu, T., Bukshpun, P., Wakahiro, M. L. J., Marco, E. J., Berman, J. I., Spiro, J. E., Chung, W. K., et al. (2016) · Human Brain Mapping · doi:10.1002/hbm.23211 · Cited by 81 · see citing works
Maternal Body Mass Index and Risk of Autism Spectrum Disorders in Offspring: A Meta-analysis.
Wang, Y., Tang, S., Xu, S., Weng, S., & Liu, Z. (2016) · Scientific Reports · doi:10.1038/srep34248 · Cited by 81 · see citing works
Blizinsky, K. D., Diaz-Castro, B., Forrest, M. P., Schürmann, B., Bach, A. P., Martin-de-Saavedra, M. D., Wang, L., Csernansky, J. G., Duan, J., & Penzes, P. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1607014113 · Cited by 76 · see citing works
Autism Spectrum Disorder Genetics: Diverse Genes with Diverse Clinical Outcomes
Talkowski, M. E., Minikel, E. V., & Gusella, J. F. (2014) · Harvard Review of Psychiatry · doi:10.1097/hrp.0000000000000002 · Cited by 72 · see citing works
Self-citationSønderby, I. E., Ching, C. R. K., Thomopoulos, S. I., van der Meer, D., Sun, D., Villalon‐Reina, J. E., Agartz, I., Amunts, K., Arango, C., Armstrong, N. J., et al. (2022) · Human Brain Mapping · doi:10.1002/hbm.25354 · Cited by 67 · see citing works
Self-citationAutism spectrum disorder, developmental and psychiatric features in 16p11.2 duplication
on behalf of the Simons VIP consortium, Green Snyder, L., D’Angelo, D., Chen, Q., Bernier, R., Goin-Kochel, R. P., Wallace, A. S., Gerdts, J., Kanne, S., Berry, L., et al. (2016) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-016-2807-4 · Cited by 61 · see citing works
Filges, I., Sparagana, S., Sargent, M., Selby, K., Schlade‐Bartusiak, K., Lueder, G. T., Robichaux‐Viehoever, A., Schlaggar, B. L., Shimony, J. S., & Shinawi, M. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36605 · Cited by 30 · see citing works
The sociability spectrum: evidence from reciprocal genetic copy number variations
López-Tobón, A., Trattaro, S., & Testa, G. (2020) · Molecular Autism · doi:10.1186/s13229-020-00347-0 · Cited by 20 · see citing works
Longitudinal report of child with de novo 16p11.2 triplication
Wallace, A. S., Hudac, C. M., Steinman, K. J., Peterson, J. L., DesChamps, T. D., Duyzend, M. H., Nuttle, X., Eichler, E. E., & Bernier, R. A. (2018) · Clinical Case Reports · doi:10.1002/ccr3.1236 · Cited by 9 · see citing works
Defining the effect of the 16p11.2 duplication on cognition, behavior, and medical comorbidities
D’Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Macé, A., et al. (2016) · JAMA Psychiatry · doi:10.1001/jamapsychiatry.2015.2123 · Cited by 277 · see citing works
Self-citation
- Authors
- Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., Thorleifsson, G., Belfiore, M., Bouquillon, S., Campion, D., de Leeuw, N., de Vries, B. B. A., Esko, T., Fernandez, B. A., Fernández-Aranda, F., Fernández-Real, J. M., Gratacòs, M., Guilmatre, A., Hoyer, J., Jarvelin, M.-R., Frank Kooy, R., Kurg, A., Le Caignec, C., Männik, K., Platt, O. S., Sanlaville, D., Van Haelst, M. M., Villatoro Gomez, S., Walha, F., Wu, B.-L., Yu, Y., Aboura, A., Addor, M.-C., Alembik, Y., Antonarakis, S. E., Arveiler, B., Barth, M., Bednarek, N., Béna, F., Bergmann, S., Beri, M., Bernardini, L., Blaumeiser, B., Bonneau, D., Bottani, A., Boute, O., Brunner, H. G., Cailley, D., Callier, P., Chiesa, J., Chrast, J., Coin, L., Coutton, C., Cuisset, J.-M., Cuvellier, J.-C., David, A., de Freminville, B., Delobel, B., Delrue, M.-A., Demeer, B., Descamps, D., Didelot, G., Dieterich, K., Disciglio, V., Doco-Fenzy, M., Drunat, S., Duban-Bedu, B., Dubourg, C., El-Sayed Moustafa, J. S., Elliott, P., Faas, B. H. W., Faivre, L., Faudet, A., Fellmann, F., Ferrarini, A., Fisher, R., Flori, E., Forer, L., Gaillard, D., Gerard, M., Gieger, C., Gimelli, S., Gimelli, G., Grabe, H. J., Guichet, A., Guillin, O., Hartikainen, A.-L., Heron, D., Hippolyte, L., Holder, M., Homuth, G., Isidor, B., Jaillard, S., Jaros, Z., Jiménez-Murcia, S., Joly Helas, G., Jonveaux, P., Kaksonen, S., Keren, B., Kloss-Brandstätter, A., Knoers, N. V. A. M., Koolen, D. A., Kroisel, P. M., Kronenberg, F., Labalme, A., Landais, E., Lapi, E., Layet, V., Legallic, S., Leheup, B., Leube, B., Lewis, S., Lucas, J., MacDermot, K. D., Magnusson, P., Marshall, C., Mathieu-Dramard, M., McCarthy, M. I., Meitinger, T., Antonietta Mencarelli, M., Merla, G., Moerman, A., Mooser, V., Morice-Picard, F., Mucciolo, M., Nauck, M., Coumba Ndiaye, N., Nordgren, A., Pasquier, L., Petit, F., Pfundt, R., Plessis, G., Rajcan-Separovic, E., Paolo Ramelli, G., Rauch, A., Ravazzolo, R., Reis, A., Renieri, A., Richart, C., Ried, J. S., Rieubland, C., Roberts, W., Roetzer, K. M., Rooryck, C., Rossi, M., Saemundsen, E., Satre, V., Schurmann, C., Sigurdsson, E., Stavropoulos, D. J., Stefansson, H., Tengström, C., Thorsteinsdóttir, U., Tinahones, F. J., Touraine, R., Vallée, L., van Binsbergen, E., Van der Aa, N., Vincent-Delorme, C., Visvikis-Siest, S., Vollenweider, P., Völzke, H., Vulto-van Silfhout, A. T., Waeber, G., Wallgren-Pettersson, C., Witwicki, R. M., Zwolinksi, S., Andrieux, J., Estivill, X., Gusella, J. F., Gustafsson, O., Metspalu, A., Scherer, S. W., Stefansson, K., Blakemore, A. I. F., Beckmann, J. S., & Froguel, P.
- Affiliations
- Centre Hospitalier Universitaire Vaudois (CH)
- University of Lausanne (CH)
- Imperial College London (GB)
- SIB Swiss Institute of Bioinformatics (CH)
- Boston Children's Hospital (US)
- Centre Hospitalier Universitaire de Lille (FR)
- Inserm (FR)
- University of Tartu (EE)
- Memorial University of Newfoundland (CA)
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Lyon 1 Université (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hôpital d'Hautepierre (FR)
- University Hospital of Geneva (CH)
- Centre Hospitalier Universitaire d'Angers (FR)
- Centre Hospitalier Universitaire de Reims (FR)
- Casa Sollievo della Sofferenza (IT)
- Antwerp University Hospital (BE)
- Radboud University Nijmegen (NL)
- Centre Hospitalier Universitaire de Bordeaux (FR)
- CHU Dijon Bourgogne (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Centre Hospitalier Universitaire de Nantes (FR)
- Groupe Hospitalier de l'Institut Catholique de Lille (FR)
- Université de Bordeaux (FR)
- Centre Hospitalier Universitaire Amiens-Picardie (FR)
- Centre Hospitalier de Béthune (FR)
- University of Siena (IT)
- Centre National de la Recherche Scientifique (FR)
- Centre for Life (GB)
- Innsbruck Medical University (AT)
- Helmholtz Munich (DE)
- Istituto Giannina Gaslini (IT)
- Universität Greifswald (DE)
- University of Oulu (FI)
- Centre Hospitalier Régional et Universitaire de Nancy (FR)
- University Medical Center Utrecht (NL)
- Medical University of Graz (AT)
- Meyer Children's Hospital (IT)
- Groupe Hospitalier du Havre (FR)
- Düsseldorf University Hospital (DE)
- Centre Hospitalier Universitaire de Rennes (FR)
- Northwick Park Hospital (GB)
- Hospital for Sick Children (CA)
- Centre for Human Genetics (GB)
- TUM Klinikum (DE)
- GlaxoSmithKline (United States) (US)
- Karolinska Institutet (SE)
- Centre Hospitalier Universitaire de Caen Normandie (FR)
- University of Zurich (CH)
- University of Bern (CH)
- Instituto de Salud Carlos III (ES)
- Centre Hospitalier Universitaire de Saint-Étienne (FR)
- Centre for Genomic Regulation (ES)
- Massachusetts General Hospital (US)
- University of Toronto (CA)
- Corresponding author
- Beckmann, Jacques S.
- ORCID
- Jacquemont, Sébastien
- Reymond, Alexandre
- Harewood, Louise
- Walters, Robin G.
- Kutalik, Zoltán
- Shen, Yiping
- Valsesia, Armand
- Beckmann, Noam D.
- Campion, Dominique
- Esko, Tõnu
- Fernandez, Bridget A.
- Hoyer, Juliane
- Kurg, Ants
- Sanlaville, Damien
- Yu, Yongguo
- Addor, Marie-Claude
- Antonarakis, Stylianos E.
- Barth, Magalie
- Bednarek, Nathalie
- Bergmann, Sven
- Bernardini, Laura
- Blaumeiser, Bettina
- Bonneau, Dominique
- Bottani, Armand
- Brunner, Han G.
- Callier, Patrick
- Coin, Lachlan
- Coutton, Charles
- Delrue, Marie-Ange
- Demeer, Bénédicte
- Dieterich, Klaus
- Disciglio, Vittoria
- Drunat, Séverine
- Dubourg, Christèle
- Elliott, Paul
- Faas, Brigitte H. W.
- Faivre, Laurence
- Fellmann, Florence
- Ferrarini, Alessandra
- Forer, Lukas
- Gaillard, Dominique
- Gieger, Christian
- Grabe, Hans J.
- Homuth, Georg
- Isidor, Bertrand
- Jaillard, Sylvie
- Keren, Boris
- Knoers, Nine V. A. M.
- Koolen, David A.
- Kroisel, Peter M.
- Kronenberg, Florian
- Labalme, Audrey
- Leheup, Bruno
- Marshall, Christian
- McCarthy, Mark I.
- Meitinger, Thomas
- Merla, Giuseppe
- Mooser, Vincent
- Mucciolo, Mafalda
- Nauck, Matthias
- Nordgren, Ann
- Pasquier, Laurent
- Petit, Florence
- Pfundt, Rolph
- Rauch, Anita
- Ravazzolo, Roberto
- Renieri, Alessandra
- Rooryck, Caroline
- Rossi, Massimiliano
- Satre, Véronique
- Schurmann, Claudia
- Stavropoulos, Dimitri J.
- Tinahones, Francisco J.
- Touraine, Renaud
- Vallée, Louis
- Völzke, Henry
- Waeber, Gérard
- Estivill, Xavier
- Gusella, James F.
- Metspalu, Andres
- Scherer, Stephen W.
- Blakemore, Alexandra I. F.
- Beckmann, Jacques S.
- Froguel, Philippe
- Venue
- Nature
- Published
- 2011-08-31
- Volume
- 478
- Issue
- 7367
- Pages
- 97-102
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC3637175
- OpenAlex
- W2025159391
- Cited by
- 462
- References
- 89
- Citations by year
- 2026: 11 · 2025: 23 · 2024: 24 · 2023: 17 · 2022: 26 · 2021: 31 · 2020: 26 · 2019: 25 · 2018: 32 · 2017: 27 · 2016: 28 · 2015: 47 · 2014: 44 · 2013: 48 · 2012: 50
- FWCI
- 28.93
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- HAL (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- CINECA IRIS Institutial Research Information System (University of Genoa) (submittedVersion)
- IRIS (submittedVersion)
- Site cant be reached (submittedVersion)
- Research Portal (Queen's University Belfast) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion, other-oa)
- Use Siena air (University of Siena) (submittedVersion)
- Hirsla (Landspítali University Hospital) (submittedVersion)
- University of Groningen research database (University of Groningen / Centre for Information Technology) (submittedVersion)
- Funders
- National Science Foundation
- Autism Speaks (AS2173)
- GlaxoSmithKline
- Genome Canada
- Ludwig Institute for Cancer Research
- Wellcome Trust (090532)
- Michael Smith Health Research BC
- National Institute for Health and Care Research
- Imperial College London
- Imperial College Healthcare NHS Trust
- European Commission (245536, SF0180142s08, 201413, 223423)
- Fondation Jérôme Lejeune
- Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung (201413)
- Bundesministerium für Bildung und Forschung (01GS0823, 01GS08160)
- Fonds De La Recherche Scientifique - FNRS
- Fudan University
- University of Toronto
- Oesterreichische Nationalbank (13059)
- Hospital for Sick Children
- Fondation Leenaards
- Université de Lausanne
- Hersenstichting
- Vlaamse regering
- Centro de Investigación Biomédica en Red-Fisiopatología de la Obesidad y Nutrición
- National Institutes of Health (6r01hl087679-03, 5rl1mh083268-05, GM061354)
- Canadian Institutes of Health Research (MOP 74502)
- Medical Research Council
- Instituto de Salud Carlos III
- Direction de l’hospitalisation et de l’offre de Soins
- Münchner Zentrum für Gesundheitswissenschaften
- National Heart, Lung, and Blood Institute (5R01 HL087679-02)
- National Institute of Mental Health (R01MH063706, R01MH071425, 1RL1MH083268-01, 5R01 MH63706:02, MH071425)
- National Institute of General Medical Sciences (GM061354, P01GM061354)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Keywords
- 16p11.2, underweight, obesity, body mass index, gene dosage, hemizygosity, failure to thrive, intellectual disability, sex differences, head circumference, mRNA levels, energy balance, eating disorders, anorexia nervosa
- MeSH terms
- Adolescent, Adult, Aged, Aging, Mental Disorders, Body Height, Child, Developmental Disabilities, Child, Preschool, Chromosomes, Human, Pair 16, Energy Metabolism, Europe, Female, Head, Heterozygote, Humans, Infant, Infant, Newborn, Male, Middle Aged, Mutation, North America, Obesity, Phenotype, RNA, Messenger, Thinness, Transcription, Genetic, Cohort Studies, Body Mass Index, Case-Control Studies, Sequence Deletion, Gene Dosage, Genetic Predisposition to Disease, Gene Duplication, Gene Expression Profiling, Comparative Genomic Hybridization, Genome-Wide Association Study, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
