Arbogast T, Razaz P, Ellegood J, McKinstry S, Erdin S, Currall B, Aneichyk T, Lerch JP, Qiu LR, Rodriguiz RM et al (2019) Kctd13-deficient mice display short-term memory impairment and sex-dependent genetic interactions. Hum Mol Genet

Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ et al (2014) Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families. Am J Hum Genet 94:870–883

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen JF, Zhang Y, Wilde J, Hansen KC, Lai F, Niswander L (2014) Microcephaly disease gene Wdr62 regulates mitotic progression of embryonic neural stem cells and brain size. Nat Commun 5:3885

Article  CAS  PubMed  Google Scholar 

Cong L, Ran FA, Cox D, Lin S, Barretto R, Habib N, Hsu PD, Wu X, Jiang W, Marraffini LA et al (2013) Multiplex genome engineering using CRISPR/Cas systems. Science 339:819–823

Article  CAS  PubMed  PubMed Central  Google Scholar 

Doobin DJ, Kemal S, Dantas TJ, Vallee RB (2016) Severe NDE1-mediated microcephaly results from neural progenitor cell cycle arrests at multiple specific stages. Nat Commun 7:12551

Article  CAS  PubMed  PubMed Central  Google Scholar 

Escamilla CO, Filonova I, Walker AK, Xuan ZX, Holehonnur R, Espinosa F, Liu S, Thyme SB, Lopez-Garcia IA, Mendoza DB et al (2017) Kctd13 deletion reduces synaptic transmission via increased RhoA. Nature 551:227–231

Article  CAS  PubMed  PubMed Central  Google Scholar 

Golzio C, Willer J, Talkowski ME, Oh EC, Taniguchi Y, Jacquemont S, Reymond A, Sun M, Sawa A, Gusella JF et al (2012) KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature 485:363–367

Article  CAS  PubMed  PubMed Central  Google Scholar 

Horev G, Ellegood J, Lerch JP, Son YE, Muthuswamy L, Vogel H, Krieger AM, Buja A, Henkelman RM, Wigler M et al (2011) Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism. Proc Natl Acad Sci USA 108:17076–17081

Article  PubMed  PubMed Central  Google Scholar 

Jinek M, Chylinski K, Fonfara I, Hauer M, Doudna JA, Charpentier E (2012) A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science 337:816–821

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kara E, Kor D, Bulut FD, Herguner O, Ceylaner S, Koseci B, Burgac E, Mungan NO (2021) Glycogen storage disease type XII; an ultra rare cause of hemolytic anemia and rhabdomyolysis: one new case report. J Pediatr Endocrinol Metab 34:1335–1339

Article  PubMed  Google Scholar 

Kizner V, Naujock M, Fischer S, Jager S, Reich S, Schlotthauer I, Zuckschwerdt K, Geiger T, Hildebrandt T, Lawless N et al (2020) CRISPR/Cas9-mediated knockout of the neuropsychiatric risk gene KCTD13 causes developmental deficits in human cortical neurons derived from induced pluripotent stem cells. Mol Neurobiol

Kosuri S, Goodman DB, Cambray G, Mutalik VK, Gao Y, Arkin AP, Endy D, Church GM (2013) Composability of regulatory sequences controlling transcription and translation in Escherichia coli. Proc Natl Acad Sci USA 110:14024–14029

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kumar RA, KaraMohamed S, Sudi J, Conrad DF, Brune C, Badner JA, Gilliam TC, Nowak NJ, Cook EH Jr, Dobyns WB et al (2008) Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 17:628–638

Article  CAS  PubMed  Google Scholar 

Lancaster MA, Knoblich JA (2014) Generation of cerebral organoids from human pluripotent stem cells. Nat Protoc 9:2329–2340

Article  CAS  PubMed  PubMed Central  Google Scholar 

Lancaster MA, Renner M, Martin CA, Wenzel D, Bicknell LS, Hurles ME, Homfray T, Penninger JM, Jackson AP, Knoblich JA (2013) Cerebral organoids model human brain development and microcephaly. Nature 501:373–379

Article  CAS  PubMed  Google Scholar 

Lim ET, Chan Y, Dawes P, Guo X, Erdin S, Tai DJC, Liu S, Reichert JM, Burns MJ, Chan YK et al (2022) Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun 13:3243

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mali P, Yang L, Esvelt KM, Aach J, Guell M, DiCarlo JE, Norville JE, Church GM (2013) RNA-guided human genome engineering via Cas9. Science 339:823–826

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pasca AM, Sloan SA, Clarke LE, Tian Y, Makinson CD, Huber N, Kim CH, Park JY, O’Rourke NA, Nguyen KD et al (2015) Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture. Nat Methods 12:671–678

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pizzo L, Lasser M, Yusuff T, Jensen M, Ingraham P, Huber E, Singh MD, Monahan C, Iyer J, Desai I et al (2021) Functional assessment of the “two-hit” model for neurodevelopmental defects in Drosophila and X. laevis. PLoS Genet 17:e1009112

Article  CAS  PubMed  PubMed Central  Google Scholar 

Qian X, Nguyen HN, Song MM, Hadiono C, Ogden SC, Hammack C, Yao B, Hamersky GR, Jacob F, Zhong C et al (2016) Brain-region-specific organoids using mini-bioreactors for modeling ZIKV exposure. Cell 165:1238–1254

Article  CAS  PubMed  PubMed Central  Google Scholar 

Quadrato G, Nguyen T, Macosko EZ, Sherwood JL, Min Yang S, Berger DR, Maria N, Scholvin J, Goldman M, Kinney JP et al (2017) Cell diversity and network dynamics in photosensitive human brain organoids. Nature 545:48–53

Article  CAS  PubMed  PubMed Central  Google Scholar 

Qureshi AY, Mueller S, Snyder AZ, Mukherjee P, Berman JI, Roberts TP, Nagarajan SS, Spiro JE, Chung WK, Sherr EH et al (2014) Opposing brain differences in 16p11.2 deletion and duplication carriers. J Neurosci 34:11199–11211

Article  CAS  PubMed  PubMed Central  Google Scholar 

Raveh-Sadka T, Levo M, Shabi U, Shany B, Keren L, Lotan-Pompan M, Zeevi D, Sharon E, Weinberger A, Segal E (2012) Manipulating nucleosome disfavoring sequences allows fine-tune regulation of gene expression in yeast. Nat Genet 44:743–750

Article  CAS  PubMed  Google Scholar 

Roth JG, Muench KL, Asokan A, Mallett VM, Gai H, Verma Y, Weber S, Charlton C, Fowler JL, Loh KM et al (2020) 16p11.2 microdeletion imparts transcriptional alterations in human iPSC-derived models of early neural development. Elife 9:e58178

Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA et al (2011) Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron 70:863–885

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T, Yamrom B, Yoon S, Krasnitz A, Kendall J et al (2007) Strong association of de novo copy number mutations with autism. Science 316:445–449

Article  CAS  PubMed  PubMed Central  Google Scholar 

Sharon E, Kalma Y, Sharp A, Raveh-Sadka T, Levo M, Zeevi D, Keren L, Yakhini Z, Weinberger A, Segal E (2012) Inferring gene regulatory logic from high-throughput measurements of thousands of systematically designed promoters. Nat Biotechnol 30:521–530

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A et al (2010) Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet 47:332–341

Article  CAS  PubMed  Google Scholar 

Steinman KJ, Spence SJ, Ramocki MB, Proud MB, Kessler SK, Marco EJ, Green Snyder L, D’Angelo D, Chen Q, Chung WK et al (2016) 16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort. Am J Med Genet A 170:2943–2955

Article  CAS  PubMed  Google Scholar 

Tai DJ, Ragavendran A, Manavalan P, Stortchevoi A, Seabra CM, Erdin S, Collins RL, Blumenthal I, Chen X, Shen Y et al (2016) Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci 19:517–522

Article  CAS  PubMed  PubMed Central  Google Scholar 

Tang H, Hammack C, Ogden SC, Wen Z, Qian X, Li Y, Yao B, Shin J, Zhang F, Lee EM et al (2016) Zika virus infects human cortical neural progenitors and attenuates their growth. Cell Stem Cell 18:587–590

Article  CAS  PubMed  PubMed Central  Google Scholar 

Urresti J, Zhang P, Moran-Losada P, Yu NK, Negraes PD, Trujillo CA, Antaki D, Amar M, Chau K, Pramod AB et al (2021) Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism. Mol Psychiatry 26:7560–7580

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vysotskiy M, Zhong X, Miller-Fleming TW, Zhou D, Autism Working Group of the Psychiatric Genomics, C., Bipolar Disorder Working Group of the Psychiatric Genomics, C., Schizophrenia Working Group of the Psychiatric Genomics, C., Cox NJ, Weiss LA (2021) Integration of genetic, transcriptomic, and clinical data provides insight into 16p112 and 22q112 CNV genes. Genome Med 13:172

Article  CAS  PubMed  PubMed Central  Google Scholar 

Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E, Stefansson H, Ferreira MA, Green T et al (2008) Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 358:667–675

Article  CAS  PubMed