Longitudinal report of child with de novo 16p11.2 triplication

Microduplications 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

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

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

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature · doi:10.1038/nature10406 · Cited by 462 · see citing works

KCTD13 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

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

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

A 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

Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variationPreprint

Hiatt, J. B., Pritchard, C. C., Salipante, S. J., O’Roak, B. J., & Shendure, J. (2013) · Genome Research · doi:10.1101/gr.147686.112 · Cited by 325 · see citing works

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals

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

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population

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

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

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2–p12.2

Ballif, B. C., Hornor, S. A., Jenkins, E., Madan‐Khetarpal, S., Surti, U., Jackson, K. E., Asamoah, A., Brock, P. L., Gowans, G. C., Conway, R. L., et al. (2007) · Nature Genetics · doi:10.1038/ng2107 · Cited by 249 · 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

Simons Variation in Individuals Project (Simons VIP): A Genetics-First Approach to Studying Autism Spectrum and Related Neurodevelopmental Disorders

The Simons VIP Consortium (2012) · Neuron · doi:10.1016/j.neuron.2012.02.014 · Cited by 165 · see citing works

Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families

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

Cognitive and behavioral characterization of 16p11.2 deletion syndrome

Hanson, E., Nasir, R. H., Fong, A., Lian, A., Hundley, R., Shen, Y., Wu, B.-L., Holm, I. A., & Miller, D. T. (2010) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e3181ea50ed · Cited by 125 · see citing works

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

Nuttle, X., Giannuzzi, G., Duyzend, M., Schraiber, J. G., Narvaiza, I., Sudmant, P. H., Penn, O., Chiatante, G., Malig, M., Huddleston, J., et al. (2016) · Nature · doi:10.1038/nature19075 · Cited by 122 · see citing works

A triplication of the Williams–Beuren syndrome region in a patient with mental retardation, a severe expressive language delay, behavioural problems and dysmorphisms

Beunders, G., van de Kamp, J. M., Veenhoven, R. H., van Hagen, J. M., Nieuwint, A. W. M., & Sistermans, E. A. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2009.070490 · Cited by 111 · see citing works

Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis

Walsh, K. M., & Bracken, M. B. (2011) · Genetics in Medicine · doi:10.1097/gim.0b013e3182076c0c · Cited by 65 · see citing works

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

Duyzend, M., Nuttle, X., Coe, B. P., Baker, C. A., Nickerson, D. A., Bernier, R., & Eichler, E. E. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.11.017 · Cited by 63 · see citing works

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

Bernier, R., Hudac, C. M., Chen, Q., Zeng, C., Wallace, A. S., Gerdts, J., Earl, R. K., Peterson, J. L., Wolken, A., Peters, A., et al. (2017) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32525 · Cited by 47 · see citing works

Intrachromosomal triplications: molecular cytogenetic and clinical studies

Reddy, K. S., & Logan, J. J. (2000) · Clinical Genetics · doi:10.1034/j.1399-0004.2000.580208.x · Cited by 33 · see citing works

Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions

Nuttle, X., Huddleston, J., O’Roak, B. J., Antonacci, F., Fichera, M., Romano, C., Shendure, J., & Eichler, E. E. (2013) · Nature Methods · doi:10.1038/nmeth.2572 · Cited by 31 · see citing works

A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndrome

Õunap, K., Ilus, T., & Bartsch, O. (2005) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30134 · Cited by 31 · see citing works

Microdeletion of 16p11.2 associated with endocardial fibroelastosis

Puvabanditsin, S., Nagar, M., Joshi, M., Lambert, G. H., Garrow, E., & Brandsma, E. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33562 · Cited by 25 · see citing works

Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2

Bardakjian, T., Kwok, S. C. M., Slavotinek, A. M., & Schneider, A. S. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33492 · Cited by 23 · see citing works

De novo triplication of the MAPT gene from the recurrent 17q21.31 microdeletion region in a patient with moderate intellectual disability and various minor anomalies

Gregor, A., Krumbiegel, M., Kraus, C. S., Reis, A., & Zweier, C. (2012) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35427 · Cited by 8 · see citing works

De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features

Yamamoto, T., Matsuo, M., Shimada, S., et al. (2013) · Molecular Cytogenetics · doi:10.1186/1755-8166-6-15 · Cited by 6 · 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

DETERMINING QUALITY REQUIREMENTS AT THE UNIVERSITIES TO IMPROVE THE QUALITY OF EDUCATION

Mustafa, N. H., Kelesbayev, D., & Alibekova, Z. D. (2018) · The Journal of Economic Research & Business Administration · doi:10.26577/be-2018-2-2141

Susquehanna Chorale Spring Concert "Roots and Wings"

Hawkins, D. (2017)

Genentech taps Affimed’s antibodies

Cross, R. (2018) · C&EN Global Enterprise · doi:10.1021/cen-09635-buscon15

KOMPLIKASI REGIONAL ANESTESI PADA PEDIATRIK

Sari, D. (2023) · Jurnal Komplikasi Anestesi · doi:10.22146/jka.v5i1.7322

Enxerto livre de arteria epigastrica inferior: avaliacao hemodinamica e angiografica pre e pos-operatoria

Dib, A., Puig, L. B., Salvadori, D., et al. (1988) · Arquivos Brasileiros de Cardiologia