R. J. Admiraal, F. B. Joosten, and P. L. Huygen, Temporal bone CT findings in the CHARGE association, Int J Pediatr Otorhinolaryngol, vol.45, pp.151-162, 1998.

B. Alberts, A. Johnson, J. Lewis, M. Raff, K. Roberts et al., RNA synthesis and RNA processing in molecular biology of the cell, vol.4, 2002.

J. Amiel, T. Attiee-bitach, R. Marianowski, V. Cormier-daire, V. Abadie et al., Temporal bone anomaly proposed as a major criteria for diagnosis of CHARGE syndrome, Am J Med Genet, vol.99, pp.124-127, 2001.

C. Anders, O. Niewoehner, A. Duerst, and M. Jinek, Structural basis of PAMdependent target DNA recognition by the Cas9 endonuclease, Nature, vol.513, pp.569-573, 2014.

S. E. Antonarakis, M. Krawczak, and D. N. Cooper, Disease-causing mutations in the human genome, Eur J Pediatr, vol.159, issue.3, pp.173-178, 2000.

M. Aramaki, T. Udaka, R. Kosaki, Y. Makita, N. Okamoto et al., Phenotypic spectrum of CHARGE syndrome with CHD7 mutations, J Pediatr, vol.148, pp.410-414, 2006.

M. Aramaki, T. Kimura, T. Udaka, R. Kosaki, T. Mitsuhashi et al., Embryonic expression profile of chicken CHD7, the ortholog of the causative gene for CHARGE syndrome, Birth Defects Res A Clin Mol Teratol, pp.7950-57, 2007.

E. Aref-eshghi, D. I. Rodenhiser, L. C. Schenkel, H. Lin, C. Skinner et al., Genomic DNA methylation signatures enable concurrent diagnosis and clinical genetic variant classification in neurodevelopmental syndromes, Am J Hum Genet, vol.102, pp.156-174, 2018.

Y. Asakura, Y. Toyota, K. Muroya, K. Kurosawa, K. Fujita et al., Endocrine and radiological studies in patients with molecularly confirmed CHARGE syndrome, J Clin Endocrinol Metab, vol.93, pp.920-924, 2008.

L. Badalato, S. M. Farhan, A. A. Dilliott, C. Consortium, D. E. Bulman et al., Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection, Am J Med Genet A, vol.173, pp.183-189, 2017.

R. Bajpai, D. A. Chen, A. Rada-iglesias, J. Zhang, Y. Xiong et al., CHD7 cooperates with PBAF to control multipotent neural crest formation, Nature, vol.463, pp.958-962, 2010.

R. Balasubramanian, J. H. Choi, L. Francescatto, J. Willer, E. R. Horton et al., Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency, Proc Natl Acad Sci USA, vol.111, pp.17953-17958, 2014.

R. Barrangou, C. Fremaux, H. Deveau, M. Richards, P. Boyaval et al., CRISPR provides acquired resistance against viruses in prokaryotes, Science, vol.345, pp.1709-1712, 2007.

C. F. Bartels, C. Scacheri, L. White, P. C. Scacheri, and S. Bale, Mutations in the CHD7 gene: The experience of a commercial laboratory, Genet Test Mol Biomarkers, vol.14, pp.881-891, 2010.

M. A. Basson and C. Van-ravenswaaij-arts, Functional insights into chromatin remodeling from studies on CHARGE syndrome, Trends Genet, vol.31, pp.600-611, 2015.

T. Batsukh, L. Pieper, A. M. Koszucka, N. Von-velsen, S. Hoyer-fender et al., CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome, Hum Mol Genet, vol.19, pp.2858-2866, 2010.

J. E. Bergman, E. A. Bosman, C. M. Van-ravenswaaij, and K. P. Steel, Study of smell and reproductive organs in a mouse model for CHARGE syndrome, Eur. J Hum Genet, vol.18, pp.171-177, 2010.

J. E. Bergman, I. De-wijs, M. C. Jongmans, R. J. Admiraal, and L. H. Hoefsloot, Ravenswaaij-Arts CM. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome, Eur J Med Genet, vol.51, pp.417-425, 2008.

J. E. Bergman, N. Janssen, L. H. Hoefsloot, M. Jongmans, R. Hofstra et al., CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype, J Med Genet, vol.48, pp.334-342, 2011.
URL : https://hal.archives-ouvertes.fr/hal-00613261

J. E. Bergman, N. Janssen, A. M. Van-der-sloot, H. E. De-walle, J. Schoots et al., A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome, Hum Mutat, vol.33, pp.1251-1260, 2012.

V. Bernstein and L. S. Denno, Repetitive behaviors in CHARGE syndrome: differential diagnosis and treatment options, Am J Med Genet A, vol.133, pp.232-239, 2005.

K. J. Beumer, J. K. Trautman, K. Mukherjee, and D. Carroll, Donor DNA utilization during gene targeting with zinc-finger nucleases, G3, vol.3, pp.657-664, 2013.

D. Bhaya, M. Davison, and R. Barrangou, CRISPR-Cas systems in bacteria and archaea: versatile small RNAs for adaptive defense and regulation, Annu Rev Genet, vol.45, pp.273-297, 2011.

D. Bikard, A. Hatoum-aslan, D. Mucida, and L. A. Marraffini, CRISPR interference can prevent natural transformation and virulence acquisition during in vivo bacterial infection, Cell Host Microbe, vol.12, pp.177-186, 2012.

F. Bilan, M. Legendre, V. Charraud, B. Manière, D. Couet et al., Complete screening of 50 patients with CHARGE syndrome for anomalies in the CHD7 gene using a denaturing highperformance liquid chromatography-based protocol: new guidelines and a proposal for routine diagnosis, J Mol Diagn, vol.14, pp.46-55, 2012.

K. D. Blake, S. L. Davenport, B. D. Hall, M. A. Hefner, R. A. Pagon et al., CHARGE association: an update and review for the primary pediatrician, Clin Pediatr (Phila), vol.37, pp.159-173, 1998.

K. D. Blake, C. Prasad, and . Charge-syndrome, Orphanet J Rare Dis, vol.1, p.34, 2006.

J. Boch, H. Scholze, S. Schornack, A. Landgraf, S. Hahn et al., Breaking the code of DNA binding specificity of TAL-type III effectors, Science, vol.326, pp.1509-1512, 2009.

E. A. Bosman, A. C. Penn, J. C. Ambrose, R. Kettleborough, D. L. Stemple et al., Multiple mutations in mouse Chd7 provide models for CHARGE syndrome, Hum Mol Genet, vol.14, pp.3463-3476, 2005.

K. Bouazoune and R. E. Kingston, Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human development disorders, Proc Natl Acad Sci USA, vol.47, pp.19238-19243, 2012.

D. T. Butcher, C. Cytrynbaum, A. L. Turinsky, M. T. Siu, M. Inbar-feigenberg et al., CHARGE and Kabuki syndromes: genespecific DNA methylation signatures identify epigenetic mechanisms linking these clinically overlapping conditions, Am J Hum Genet, vol.100, pp.773-788, 2017.

K. C. Cady, J. Bondy-denomy, G. E. Heussler, A. R. Davidson, O. 'toole et al., The CRISPR/Cas adaptive immune system of Pseudomonas aeruginosa mediates resistance to naturally occurring and engineered phages, CHD7 database. NL Radboudumc, vol.194, pp.5728-5738, 2012.

M. Christian, T. Cermak, E. L. Doyle, C. Schmidt, F. Zhang et al., Targeting DNA double-strand breaks with TAL effector nucleases, Genetics, vol.186, pp.757-761, 2010.

R. Clarke, R. Heler, M. S. Macdougall, N. C. Yeo, A. Chavez et al., Enhanced bacterial immunity and mammalian genome editing via RNApolymerase-mediated dislodging of Cas9 from double-strand DNA breaks, Mol Cell, vol.71, pp.42-55, 2018.

L. Cong, F. A. Ran, D. Cox, S. Lin, R. Barretto et al., Multiplex genome engineering using CRISPR/Cas systems, Science, vol.339, pp.819-823, 2013.

N. Corsten-janssen, W. S. Kerstjens-frederikse, G. J. Du-marchie-sarvaas, M. E. Baardman, M. K. Bakker et al., The cardiac phenotype in patients with a CHD7 mutation, Circ Cardiovasc Genet, vol.6, pp.248-254, 2013.

N. Corsten-janssen, S. C. Saitta, L. H. Hoefsloot, D. M. Mcdonald-mcginn, D. A. Driscoll et al., More clinical overlap between 22q11.2 deletion syndrome and CHARGE syndrome than often anticipated, Mol Syndromol, vol.4, pp.235-245, 2013.

N. Corsten-janssen and P. J. Scambler, Clinical and molecular effects of CHD7 in the heart, Am J Med Genet, vol.175, pp.487-495, 2017.

Y. Cui, J. Xu, M. Cheng, X. Liao, and S. Peng, Review of CRISPR/Cas9 sgRNA design tools, Interdiscip Sci, vol.10, pp.455-465, 2018.

A. Dauber, J. N. Hirschhorn, J. Picker, T. A. Maher, and A. Milunsky, Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome, Pediatrics, vol.126, pp.1594-1598, 2010.

A. Delehaye, Y. Sznajer, S. Lyonnet, M. Elmaleh-bergès, I. Delpieree et al., Familial CHARGE syndrome because of CHD7 mutation: clinical intra and interfamilial variability, Clin Genet, vol.72, pp.112-121, 2007.

V. G. Dev, M. G. Butler, and J. A. Phillips, 1q duplication due to inequal crossover in a patient with CHARGE association and di george sequence, Am J Hum Genet, vol.37, p.90, 1985.

K. Devriendt, A. Swillen, and J. P. Fryns, Deletion in chromosome region 22q11 in a child with CHARGE association, Clin Genet, vol.53, pp.408-410, 1998.

S. S. Dirscherl and J. E. Krebs, Functional diversity of ISWI complexes, Biochem Cell Biol, vol.82, pp.482-489, 2004.

C. Dobbelsteyn, D. M. Marche, K. Blake, and M. Rashid, Early oral sensory experiences and feeding development in children with CHARGE syndrome: a report of five cases, Dysphagia, vol.20, pp.89-100, 2005.

J. A. Doudna and E. Charpentier, Genome editing. The new frontier of genome engineering with CRISPR-Cas9, Science, vol.346, p.1258096, 2014.

B. S. Emanuel, M. L. Budarf, B. Sellinger, E. Goldmuntz, and D. A. Driscoll, Detection of microdeletions of 22q11.2 with fluorescence in situ hybrydization (FISH): Diagnosis of DiGeorge (DGS), velo-cardial-facial syndrome, CHARGE association and conotruncal cardiac malformations, Am J Hum Genet, vol.51, p.80, 1992.

E. Engelen, U. Akinci, J. C. Bryne, J. Hou, C. Gontan et al., Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes, Nat Genet, vol.43, pp.607-611, 2011.

T. Félix, B. Hanshaw, R. Mueller, P. Bitoun, and J. Murray, CHD7 gene and nonsyndromic cleft lip and palate, Am J Med Genet Part A, vol.140, pp.2110-2114, 2006.

W. Feng, M. A. Khan, P. Bellvis, Z. Zhu, O. Bernhardt et al., The chromatin remodeler CHD7 regulates adult neurogenesis via activation of SoxC transcription factors, Cell Stem Cell, vol.13, pp.62-72, 2013.

M. Frank, A. Prenzler, R. Eils, and J. M. Graf-von-der-schulenburg, Genome sequencing: a systematic review of health economic evidence, Health Econ Rev, vol.3, p.29, 2013.

J. E. Garneau, M. E. Dupuis, M. Villion, D. A. Romero, R. Barrangou et al., The CRISPR/Cas bacterial immune system cleaves bacteriophage and plasmid DNA, Nature, vol.468, pp.67-71, 2010.

G. Gasiunas, R. Barrangou, P. Horvath, and V. Siksnys, Cas9-crRNA ribonucleoprotein complex mediates specific DNA cleavage for adaptive immunity in bacteria, Proc Natl Acad Sci USA, vol.109, pp.2579-2586, 2012.

A. R. Gennery, M. A. Slatter, J. Rice, L. H. Hoefsloot, D. Barge et al., Mutations in CHD7 in patients with CHARGE syndrome cause T-B + natural killer cell + severe combined immune deficiency and may cause omenn-like syndrome, Clin Exp Immunol, vol.153, pp.75-80, 2008.

J. M. Goldmann, W. S. Wong, M. Pinelli, T. Farrah, D. Bodian et al., Parent of origin specific signatures of de novo mutations, Nat Genet, vol.48, pp.935-939, 2016.

C. I. Gonçalves, F. M. Patriarca, J. M. Aragüés, D. Carvalho, F. Fonseca et al., High frequency of CHD7 mutations in congenital hypogonadotropic hypogonadism, Sci Rep, vol.9, p.1597, 2019.

D. Grozeva, K. Carss, O. Spasic-boskovic, M. I. Tejada, J. Gecz et al., Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability, Hum Mutat, vol.36, pp.1197-1204, 2015.
URL : https://hal.archives-ouvertes.fr/hal-01664310

D. Y. Guschin, A. J. Waite, G. E. Katibah, J. C. Miller, M. C. Holmes et al., A rapid and general assay for monitoring endogenous gene modification, Methods Mol Biol, vol.649, pp.247-256, 2010.

C. L. Hale, A. N. Niederriter, G. E. Green, and D. M. Martin, Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria, Am J Med Genet Part A, vol.170, pp.344-354, 2016.

B. D. Hall, Choanal atresia and associated multiple anomalies, J Pediatr, vol.95, pp.395-398, 1979.

J. A. Hall and P. T. Georgel, CHD proteins: a diverse family with strong ties, Biochem Cell Biol, vol.85, pp.463-476, 2007.

T. S. Hartshorne, . Australasian, and . Conference, CHARGE syndrome Association of Australasia, 2012.

T. S. Hartshorne, M. A. Hefner, and S. L. Davenport, Behavior in CHARGE syndrome: introduction to the special topic, Am J Med Genet A, vol.133, pp.228-231, 2005.

T. S. Hartshorne and A. D. Cypher, Challenging behavior in CHARGE syndrome, Mental Health Aspects Dev Dis, vol.7, pp.41-52, 2004.

D. He, C. Marie, C. Zhao, B. Kim, J. Wang et al., Chd7 cooperates with Sox10 and regulates the onset of CNS myelination and remyelination, Nat Neurosci, vol.19, pp.678-689, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01935895

W. D. Heyer, K. T. Ehmsen, and J. Liu, Regulation of homologous recombination in eukaryotes, Ann Rev Genet, vol.44, pp.113-139, 2010.

H. M. Hittner, N. J. Hirsch, G. M. Kreh, and A. J. Rudolph, Colobomatous microphthalmia, heart dis-ease, hearing loss, and mental retardation--a syndrome, J Pediatr Ophthalmol Strabismus, vol.16, pp.122-128, 1979.

D. Hockemeyer, H. Wang, S. Kiani, C. S. Lai, Q. Gao et al., Genetic engineering of human pluripotent cells using TALE nucleases, Nat Biotechnol, vol.29, pp.731-734, 2011.

M. A. Holcomb, Z. Rumboldt, and D. R. White, Cochlear nerve deficiency in children with CHARGE syndrome, Laryngoscope, vol.123, pp.793-796, 2013.

E. Hopsu, A. Markkola, and A. Pitkaranta, Labyrinthine malformation in the 22q11.2 deletion syndrome, Clin Dysmorphol, vol.16, pp.67-68, 2007.

C. H. Houben and J. I. Curry, Current status of prenatal diagnosis, operative management and outcome of esophageal atresia/tracheo-esophageal fistula, Prenat Diagn, vol.28, pp.667-675, 2008.

P. D. Hsu, D. A. Scott, J. A. Weinstein, F. A. Ran, S. Konermann et al., DNA targeting specificity of RNA-guided Cas9 nucleases, Nat Biotechnol, vol.31, pp.827-832, 2013.

E. A. Hurd, P. L. Capers, M. N. Blauwkamp, M. E. Adams, Y. Raphael et al., Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defect in multiple developing tissues, Mamm Genome, vol.18, pp.94-104, 2007.

E. A. Hurd, H. K. Poucher, K. Cheng, Y. Raphael, and D. M. Martin, The ATPdependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neuro-genesis in the inner ear, Development, vol.137, pp.3139-3150, 2010.

E. Husu, H. D. Hove, S. Farholt, M. Bille, L. Tranebjaerg et al., Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome, Clin Genet, vol.83, pp.125-134, 2013.

H. Inoue, H. Takada, T. Kusuda, T. Goto, M. Ochiai et al., Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism, Eur J Pediatr, vol.169, pp.839-844, 2010.

Y. Ishino, H. Shinagawa, K. Makino, M. Amemura, and A. Nakata, Nucleotide sequence of the iap gene, responsible for alkaline phosphatase isozyme conversion in Escherichia coli, and identification of the gene product, J Bacteriol, vol.169, pp.5429-5433, 1987.

K. A. Issekutz, J. M. Graham, C. Prasad, I. M. Smith, and K. D. Blake, An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study, Am J Med Genet, vol.133, pp.309-317, 2005.

A. M. Jacobi, G. R. Rettig, R. Turk, M. A. Collingwood, S. A. Zeiner et al., Simplified CRISPR tools for efficient genome editing and streamLined protocols for their delivery into mammalian cells and mouse zygotes, Methods, pp.16-28, 2017.

P. A. James, S. Aftimos, and P. Hofman, CHARGE association and secondary hypoadrenalism, Am J Med Genet A, vol.117, pp.177-180, 2003.

N. Janssen, J. E. Bergman, M. A. Swertz, L. Tranebjaerg, M. Lodahl et al., Mutation update on the CHD7 gene involved in CHARGE syndrome, Hum Mutat, vol.33, pp.1149-1160, 2012.

R. Jansen, J. Embden, . Van, W. Gaastra, and L. M. Schouls, Identification of genes that are associated with DNA repeats in prokaryotes, Mol Microbiol, vol.43, pp.1565-1575, 2002.

L. E. Jao, S. R. Wente, and W. Chen, Efficient multiplex biallelic zebrafish genome editing using a CRISPR nuclease system, Proc Natl Acad Sci USA, vol.110, pp.13904-13909, 2013.

M. Jasin and R. Rothstein, Repair of strand breaks by homologous recombination, Cold Spring Harb Perspect Biol, vol.5, p.12740, 2013.

K. Jayathilaka, S. D. Sheridan, T. D. Bold, K. Bochenska, H. L. Logan et al., A chemical compound that stimulates the human homologous recombination protein RAD51, Proc Natl Acad Sci, vol.105, pp.15848-15853, 2008.

W. Jiang, D. Bikard, D. Cox, F. Zhang, and L. A. Marraffini, RNA-guided editing of bacterial genomes using CRISPR-Cas systems, Nat Biotechnol, vol.31, pp.233-239, 2013.

X. Jiang, Y. Zhou, L. Xian, W. Chen, H. Wu et al., The mutation in Chd7 causes misexpression of Bmp4 and developmental defects in telencephalic midline, Am J Pathol, vol.181, pp.626-641, 2012.

M. Jinek, K. Chylinski, I. Fonfara, M. Hauer, J. A. Doudna et al., A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity, Science, vol.337, pp.816-821, 2012.

V. K. Jordan, B. Fregeau, X. Ge, J. Giordano, R. J. Wapner et al., Genotype-phenotype correlations in individuals with pathogenic RERE variants, Hum Mutat, vol.39, pp.666-675, 2018.

M. C. Jongmans, R. Admiraal, K. Van-der-donk, L. Vissers, A. Baas et al., CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene, J Med Genet, vol.43, pp.306-314, 2006.

M. C. Jongmans, L. H. Hoefsloot, K. P. Van-der-donk, R. J. Admiraal, A. Magee et al., Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability, Am J Med Genet A, vol.146, pp.43-50, 2008.

M. C. Jongmans, C. M. Van-ravenswaaij-arts, N. Pitteloud, T. Ogata, N. Sato et al., CHD7 mutations in patients initially diagnosed with Kallmann syndrome-the clinical overlap with CHARGE syndrome, Clin Genet, vol.75, pp.65-71, 2009.

S. Jyonouchi, D. M. Mcdonald-mcginn, S. Bale, E. H. Zackai, and K. E. Sullivan, CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features, Pediatrics, vol.123, pp.871-877, 2009.

T. Kahmoto, M. Shono, T. Naruto, M. Watanabe, K. Suga et al., A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome, Hum Genome Var, vol.3, p.16004, 2016.

K. Kallen, E. Robert, P. Mastroiacovo, E. E. Castilla, and B. Kallen, CHARGE Association in newborns: a registry-based study, Teratology, vol.60, pp.334-343, 1999.

T. Karvelis, G. Gasiunas, and V. Siksnys, Programmable DNA cleavage in vitro by Cas9, Biochem Soc Trans, vol.41, pp.1401-1406, 2013.

V. V. Khadilkar, F. J. Cameron, and R. Stanhope, Growth failure and pituitary function in CHARGE and VATER associations, Arch Dis Child, vol.80, pp.167-170, 1999.

Y. Kita, M. Nishiyama, and K. I. Nakayama, Identification of CHD7S as a novel splicing variant of CHD7 with functions similar and antagonistic to those of the full-length CHD7L, Genes Cells, vol.17, pp.536-547, 2012.

S. R. Lalani, A. M. Safiullah, L. M. Molinari, S. D. Fernbach, D. M. Martin et al., SEMA3E mutation in a patient with CHARGE syndrome, J Med Genet, vol.41, p.94, 2004.

S. R. Lalani, A. M. Safiullah, S. D. Fernbach, K. G. Harutyunyan, C. Thailer et al., Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation, Am J Hum Genet, vol.78, pp.303-314, 2006.

S. R. Lalani, M. A. Hefner, J. W. Belmont, S. Davenport, and . Charge-syndrome, , 2012.

W. S. Layman, E. A. Hurd, and D. M. Martin, Chromodomain proteins in development: Lessons from CHARGE syndrome, Clin Genet, vol.78, pp.11-20, 2010.

W. S. Layman, E. A. Hurd, and D. M. Martin, Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome, Hum Mol Genet, vol.20, pp.3138-3150, 2011.

W. S. Layman, D. P. Mcewen, L. A. Beyer, S. R. Lalani, S. D. Fernbach et al., Defects in neural stem cell proliferation and olfaction in Chd7 deficient mice indicate a mechanism for hyposmia in human CHARGE syndrome, Hum Mol Genet, vol.18, pp.1909-1923, 2009.

M. Legendre, V. Abadie, T. Attié-bitach, N. Philip, T. Busa et al., Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome, Am J Med Genet, vol.175, pp.417-430, 2017.
URL : https://hal.archives-ouvertes.fr/hal-01691932

M. Legendre, M. Rodriguez-ballesteros, M. Rossi, V. Abadie, J. Amiel et al., CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays, Eur J Hum Genet, vol.26, pp.287-292, 2018.

M. D. Leonetti, S. Sekine, D. Kamiyama, J. S. Weissman, and B. Huang, A scalable strategy for high-throughput GFP tagging of endogenous human proteins, Proc Natl Acad Sci USA, vol.113, pp.3501-3508, 2016.

A. Levy, M. G. Goren, I. Yosef, O. Auster, M. Manor et al., CRISPR adaptation biases explain preference for acquisition of foreign DNA, Nature, vol.520, pp.505-510, 2015.

J. F. Li, J. E. Norville, J. Aach, M. Mccormack, D. Zhang et al., Multiplex and homologous recombination-mediated genome editing in Arabidopsis and Nicotiana benthamiana using guide RNA and Cas9, Nat Biotechnol, vol.31, pp.688-691, 2013.

S. Lin, B. T. Staahl, R. K. Alla, and J. A. Doudna, Enhanced homology-directed human genome engineering by controlled timing of CRISPR/Cas9 delivery, eLife, vol.3, p.4766, 2015.

Y. Liu, C. Harmelink, Y. Peng, Y. Chen, Q. Wang et al., CHD7 interacts with BMP R-SMADs to epigenetically regulate cardiogenesis in mice, Hum Mol Genet, vol.23, pp.2145-2156, 2014.

K. J. Livak and T. D. Schmittgen, Analysis of relative gene expression data using real time quantitative PCR and the 2 -??Ct method, Methods, vol.25, pp.402-408, 2001.

A. Local, H. Huang, C. P. Albuquerque, N. Singh, A. Y. Lee et al., Identification of H3K4me1-associated proteins at mammalian enhancers, Nature Genet, vol.50, pp.73-82, 2018.

P. Lonlay-debeney, V. Cormier-daire, J. Amiel, V. Abadie, S. Odent et al., Features of DiGeorge syndrome and CHARGE association in five patients, J Med Genet, vol.34, pp.986-989, 1997.

P. K. Lovelock, A. B. Spurdle, M. T. Mok, D. J. Farrugia, S. R. Lakhani et al., Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?, Breast Cancer Res, vol.9, p.82, 2007.

D. V. Luquetti, A. V. Hing, M. J. Rieder, D. A. Nickerson, E. H. Turner et al., Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype, Am J Med Genet A, vol.161, pp.108-113, 2012.

Y. Ma, W. Chen, X. Zhang, L. Yu, W. Dong et al., Increasing the efficiency of CRISPR/Cas9-mediated precise genome editing in rats by inhibiting NHEJ and using Cas9 protein, RNA Biol, vol.13, pp.605-612, 2016.

M. L. Maeder, S. J. Linder, V. M. Cascio, Y. Fu, Q. H. Ho et al., CRISPR RNAguided activation of endogenous human genes, Nat Methods, vol.10, pp.977-999, 2013.

K. S. Makarova, D. H. Haft, R. Barrangou, S. J. Bruons, E. Charpentier et al., Evolution and classification of the CRISPR-Cas systems, Nat Rev Microbiol, vol.9, pp.467-477, 2011.

C. G. Marfella and A. N. Imbalzano, The Chd family of chromatin remodelers, Mutat Res, vol.618, pp.30-40, 2007.

D. M. Martin, F. J. Probst, S. E. Fox, L. A. Schimmenti, E. V. Semina et al., Exclusion of PITX2 mutations as a major cause of CHARGE association, Am J Med Genet, vol.111, pp.27-30, 2002.

T. Maruyama, S. K. Dougan, M. C. Truttmann, A. M. Bilate, J. R. Ingram et al., Increasing the efficiency of precise genome editing with CRISPR-Cas9 by inhibition of nonhomologous end joining

, Biotechnol, vol.33, pp.538-542, 2015.

K. Mcmain, J. Robitaille, I. Smith, J. Johnson, E. Wood et al., Ocular features of CHARGE syndrome, J AAPOS, vol.12, pp.460-465, 2008.

J. Mersch, N. Brown, S. Pirzadeh-miller, E. Mundt, H. C. Cox et al., Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing, JAMA, vol.320, pp.1266-1274, 2018.

J. Miao, D. Guo, J. Zhang, Q. Huang, G. Qin et al., Targeted mutagenesis in rice using CRISPR-Cas system, Cell Res, vol.23, pp.1233-1236, 2013.

J. A. Micucci, W. A. Layman, E. A. Hurd, E. D. Sperry, S. F. Frank et al., CHD7 and retinoic acid signaling cooperate to regulate neural stem cell and inner ear development in mouse models of CHARGE syndrome, Hum Mol Genet, vol.23, pp.434-448, 2014.

J. A. Micucci, E. D. Sperry, and D. M. Martin, Chromodomain helicase DNA-binding proteins in stem cells and human developmental diseases, Stem Cells Dev, vol.24, pp.917-926, 2015.

T. Mikuni, J. Nishiyama, Y. Sun, N. Kamasawa, and R. Yasuda, High-throughput, high-resolution mapping of protein localization in mammalian brain by in vivo genome editing, Cell, vol.165, pp.1803-1817, 2016.

J. C. Miller, M. C. Holmes, J. Wang, D. Y. Guschin, Y. L. Lee et al., An improved zinc-finger nuclease architecture for highly specific genome editing, Nat Biotechnol, vol.25, pp.778-785, 2007.

H. Miura, C. B. Gurumurthy, T. Sato, M. Sato, and M. Ohtsuka, CRISPR/Cas9-based generation of knockdown mice by intronic insertion of artificial microRNA using longer single-stranded, DNA. Sci Rep, vol.5, p.12799, 2015.

H. Miura, R. M. Quadros, C. B. Gurumurthy, and M. Ohtsuka, Easi-CRISPR for creating knock-in and conditional knockout mouse models using long ssDNA donors, Nat Protoc, vol.13, pp.195-215, 2018.

A. Moccia, A. Srivastava, J. M. Skidmore, J. A. Bernat, M. Wheeler et al., Genetic analysis of CHARGE syndrome identifies overlapping molecular biology, Genet Med, vol.20, pp.1022-1029, 2018.

F. Mojica, C. Díez-villaseñor, J. García-martínez, and E. Soria, Intervening sequences of regularly spaced prokaryotic repeats derive from foreign genetic elements, J Mol Evol, vol.60, pp.174-182, 2005.

D. Morgan, M. Bailey, P. Phelps, S. Bellman, A. Grace et al., Ear-nosethroat abnormalities in the CHARGE association, Arch Otolaryngol Head Neck Surg, vol.119, pp.49-54, 1993.

M. J. Moscou and A. J. Bogdanove, A simple chiver governs DNA recognition by TAL effectors, Science, vol.236, p.1501, 2009.

C. Numakura, S. Kitanaka, M. Kato, S. Ishikawa, Y. Hamamoto et al., Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome, Am J Med Genet, vol.152, pp.2355-2359, 2010.

S. Nishina, R. Kosaki, T. Yagihashi, N. Azuma, N. Okamoto et al., Ophthalmic features of CHARGE syndrome with CHD7 mutations, Am J Med Genet A, vol.158, pp.514-518, 2012.

T. Ogata, I. Fujiwara, E. Ogawa, N. Sato, T. Udaka et al., Kallman syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation, Endocr J, vol.53, pp.741-744, 2006.

B. C. Onwochei, J. W. Simon, J. B. Bateman, K. C. Couture, and E. Mir, Ocular colobomata. Surv Opthalmol, vol.45, pp.175-194, 2000.

R. A. Pagon, J. M. Graham, J. Zonana, J. Yong, and S. L. , Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association, J Pediatr, vol.99, pp.223-227, 1981.

D. Paquet, D. Kwart, A. Chen, A. Sproul, S. Jacob et al., Efficient introduction of specific homozygous and heterozygous mutation using CRISPR/Cas9, Nature, vol.533, pp.125-129, 2016.

J. Pinder, J. Salsman, and G. Dellaire, Nuclear domain 'knock-in' screen for the evaluation and identification of small molecule enhancers of CRISPRbased genome editing, Nucleic Acids Res, vol.43, pp.9379-9392, 2015.

G. Pinto, V. Abadie, R. Mesnage, J. Blustajn, S. Cabrol et al., CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development, J Clin Endocrinol Metabol, vol.90, pp.5621-6526, 2005.

M. H. Porteus and D. Baltimore, Chimeric nucleases stimulate gene targeting in human cells, Science, vol.300, p.763, 2003.

J. Pramudita, A. Utari, T. Winarni, and S. Faradz, CHARGE syndrome: an Indonesian case report, J Biomed Transl Res, vol.1, pp.23-25, 2017.

J. Puc and M. G. Rosenfeld, SOX2 and CHD7 cooperatively regulate human disease genes, Nat Genet, vol.43, pp.505-506, 2011.

D. C. Ragan, A. J. Casale, R. C. Rink, M. P. Cain, and D. D. Weaver, Genitourinary anomalies in the CHARGE association, J Urol, vol.161, pp.622-625, 1999.

F. A. Ran, P. D. Hsu, C. Y. Lin, J. S. Gootenberg, S. Konermann et al., Double nicking by RNA-guided CRISPR Cas9 for enhanced genome editing specificity, Cell, vol.154, pp.1380-1389, 2013.

F. A. Ran, P. D. Hsu, J. Wright, V. Agarwala, D. A. Scott et al., Genome engineering using the CRISPR-Cas9 system, Nat Protoc, vol.8, pp.2281-2308, 2013.

V. Randall, K. Mccue, C. Roberts, V. Kyriakopoulou, S. Beddow et al., Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice, J Clin Invest, vol.119, pp.3301-3310, 2009.

D. Reyon, S. Q. Tsai, C. Khayter, J. A. Foden, J. D. Sander et al., FLASH assembly of TALENs for high-throughput genome editing, Nat Biotechnol, vol.30, pp.460-465, 2012.

S. Richards, N. Aziz, S. Bale, D. Bick, S. Das et al., Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, vol.17, pp.405-424, 2015.

C. D. Richardson, G. J. Ray, M. A. Dewitt, G. L. Curie, and J. E. Corn, Enhancing homology-directed genome editing by catalytically active and inactive CRISPR-Cas9 using asymmetric donor DNA, Nat Biotechnol, vol.34, pp.339-344, 2016.

K. Rodgers and M. Mcvey, Error-prone repair of DNA double-strand breaks, J Cell Physiol, vol.231, pp.15-24, 2016.

B. Rothlisberger and D. Kotzot, Recurrence risk in de novo structural chromosomal rearrangements, Am J Med Genet, vol.143, pp.1708-1722, 2007.

N. Salem-hartshorne and S. Jacob, Adaptive behavior in children with CHARGE syndrome, Am J Med Genet A, vol.133, pp.262-267, 2005.

N. Saleh-gohari and T. Helleday, Conservative homologous recombination preferentially repairs DNA double-strand breaks in the S phase of the cell cycle in human cells, Nucleic Acids Res, vol.32, pp.3683-3688, 2004.

J. D. Sander, E. J. Dahlborg, M. J. Goodwin, L. Cade, F. Zhang et al., Selection-free zinc-finger-nuclease engineering by contextdependent assembly (CoDA), Nat Methods, vol.8, pp.67-69, 2010.

J. D. Sander and J. K. Joung, CRISPR-Cas systems for editing, regulating and targeting genomes, Nat Biotechnol, vol.32, pp.347-355, 2014.

N. E. Sanjana, L. Cong, Y. Zhou, M. M. Cunniff, G. Feng et al., A transcription activator-like effector toolbox for genome engineering, Nat Protoc, vol.7, pp.171-192, 2012.

M. Sanka, N. Tangsinmankong, M. Loscalzo, J. W. Sleasman, and M. J. Dorsey, Complete DiGeorge syndrome associated with CHD7 mutation, J Allergy Clin Immunol, vol.120, pp.952-954, 2007.

D. Sanlaville, H. Etchevers, M. Gonzales, J. Martinovic, M. Clément-ziza et al., Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human developmant, J Med Genet, vol.43, pp.211-218, 2006.

D. Sanlaville and A. Verloes, CHARGE syndrome: An update, Eur J Hum Genet, vol.15, pp.389-399, 2007.

H. Schneiderman and S. Balogun, What's your diagnosis?: simple iris coloboma, Consultant, vol.40, pp.2093-2096, 2000.

M. P. Schnetz, C. F. Bartels, K. Shastri, D. Balasubramanian, G. E. Zentner et al., Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns, Genome Res, vol.19, pp.590-601, 2009.

M. P. Schnetz, L. Handoko, B. Akhtar-zaidi, C. F. Bartels, C. F. Pereira et al., CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression, PLoS Genet, vol.6, p.1001023, 2010.

Y. Schulz, L. Fresse, J. Mänz, B. Zoll, C. Völter et al., CHARGE and Kabuki syndromes: a phenotypic and molecular link, Hum Mol Genet, vol.23, pp.4396-4405, 2014.

Y. Schulz, P. Wehner, L. Opitz, G. Salinas-riester, E. M. Bongers et al., CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance, Hum Genet, vol.133, pp.997-1009, 2014.

G. Schwank, B. K. Koo, V. Sasselli, J. F. Dekkers, I. Heo et al., Functional repair of CFTR by CRISPR/Cas9 in intestinal stem cell organoids of cystic fibrosis patients, Cell Stem Cell, vol.13, pp.653-658, 2013.

M. Shroff, J. Israel, and F. Rosenthal, Congenital anomalies associated with partial deletion of the long arm of chromosome 4 46

, Am J Hum Genet, vol.33, p.122, 1981.

P. Singh and J. C. Schimenti, Bolcun-Filas E. A mouse geneticist's practical guide to CRISPR applications, Genetics, vol.199, pp.1-15, 2015.

I. M. Smith, S. L. Nichols, K. Issekutz, and K. Blake, Behavioral profiles and symptoms of autism in CHARGE syndrome: preliminary Canadian epidemiological data, Am J Med Genet A, vol.133, pp.248-256, 2005.

J. Song, D. Yang, J. Xu, T. Zhu, Y. E. Chen et al., RS-1 enhances CRISPR/Cas9-and TALEN-mediated knock-in efficiency, Nat. Commun, vol.7, p.10548, 2016.

M. Srivastava, M. Nambiar, S. Sharma, S. S. Karki, G. Goldsmith et al., An inhibitor of nonhomologous end-joining abrogates double-strand break repair and impedes cancer progression, Cell, vol.151, pp.1474-1487, 2012.

P. D. Stenson, M. Mort, E. V. Ball, K. Evans, M. Hayden et al., The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies, Hum Genet, vol.136, pp.665-677, 2017.

A. L. Tellier, J. Amiel, A. L. Delezoide, S. Audollent, J. Auge et al., Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome, Am J Med Genet, vol.93, pp.85-88, 2000.

A. L. Tellier, V. Cormier-daire, V. Abadie, J. Amiel, S. Sigaudy et al., CHARGE syndrome: report of 47 cases and review, Am J Med Genet, vol.76, pp.402-409, 1998.

D. Theodoropoulos, Immune deficiency in CHARGE association, Clin Med Res, vol.1, pp.43-48, 2003.

D. M. Thurtle-schmidt and T. W. Lo, Molecular biology at the cutting edge: A review on CRISPR/CAS9 gene editing for undergraduates, Biochem Mol Biol Educ, vol.46, pp.195-205, 2018.

M. A. Tischfield, T. M. Bosley, M. Salih, I. A. Alorainy, E. C. Sener et al., Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development, Nature Genet, vol.37, pp.1035-1037, 2005.

C. Trider, G. Corsten, D. Morrison, M. Hefner, S. Davenport et al., Understanding obstructive sleep apnea in children with CHARGE syndrome, Int J Pediatr Otorhinolaryngol, vol.76, pp.947-953, 2012.

R. Ufartes, J. Schwenty-lara, L. Freese, C. Neuhofer, J. Möller et al., Sema3a plays a role in the pathogenesis of CHARGE syndrome, Hum Mol Genet, vol.27, pp.1343-1352, 2018.

J. L. Van-nostrand, C. A. Brady, H. Jung, D. R. Fuentes, M. M. Kozak et al., Inappropriate p53 activation during development induces features of CHARGE syndrome, Nature, vol.514, pp.228-232, 2014.

C. Van-ravenswaaij-arts and D. M. Martin, New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries, Am J Med Genet, vol.175, pp.397-406, 2017.

C. M. Van-ravenswaaij-arts, K. Blake, L. Hoefsloot, and A. Verloes, Clinical utility gene card for: CHARGE syndrome -update 2015, Eur J Hum Genet, vol.23, issue.11, 2015.

A. Verloes, Updated diagnostic criteria for CHARGE syndrome: A proposal, Am J Med Genet A, vol.133, pp.306-308, 2005.

O. Villate, N. Ibarluzea, E. Fraile-bethencourt, A. Valenzuela, E. A. Velasco et al., Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome, Front Genet, vol.9, p.7, 2018.

L. E. Vissers, C. M. Van-ravenswaaij, R. Admiraal, J. A. Hurst, B. B. De-vries et al., Mutations in a new member of the chromodomain gene family cause CHARGE syndrome, Nat Genet, vol.36, pp.955-957, 2004.

P. Vuorela, S. Ala-mello, S. Saloranta, M. Penttinen, M. Poyhonen et al., Molecular analysis of the CHD7 gene in CHARGE syndrome : identification of 22 novel mutations and evidence for a low contribution of large CHD7 deletions, Genet Med, vol.9, pp.690-694, 2007.

P. Vuorela, M. Penttinen, M. Hietala, J. Laine, K. Huoponen et al., A familial CHARGE syndrome with a CHD7 nonsense mutation and new clinical features, Clin Dysmorphol, vol.17, pp.249-53, 2008.

M. W. Wessels, A. S. Brooks, J. Hoogeboom, M. F. Niermeijer, and P. J. Willems, Kabuki syndrome: a review study of three hundred patients, Clin Dysmorph, vol.11, pp.95-102, 2002.

P. G. Wheeler, C. A. Quigley, A. Sadeghi-nejad, and D. D. Weaver, Hypogonadism and CHARGE association, Am J Med Genet, vol.94, pp.228-231, 2000.

B. Wiedenheft, S. H. Sternberg, and J. A. Doudna, RNA-guided genetic silencing systems in bacteria and archaea, Nature, vol.482, pp.331-338, 2012.

M. S. Williams, Speculations on the pathogenesis of CHARGE syndrome, Am J Med Genet A, vol.133, pp.318-325, 2005.

T. E. Wilson and M. R. Lieber, Efficient Processing of DNA Ends during Yeast Nonhomologous End Joining, J Biol Chem, vol.274, pp.23599-23609, 1999.

J. Wincent, E. Holmberg, K. Strömland, M. Soller, L. Mirzaei et al., CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome, Clin Genet, vol.74, pp.31-38, 2008.

M. Won and I. B. Dawid, PCR artifact in testing for homologous recombination in genomic editing in zebrafish, PLos ONE, vol.12, p.172802, 2017.

A. J. Wood, T. W. Lo, B. Zeitler, C. S. Pickle, E. J. Ralston et al., Targeted genome editing across species using ZFNs and TALENs, Science, vol.333, p.307, 2011.

K. Writzl, C. M. Cale, C. M. Pierce, L. C. Wilson, and R. C. Hennekam, Immunological abnormalities in CHARGE syndrome, Eur J Med Genet, vol.50, pp.338-345, 2007.

H. Würtele, K. Little, and P. Chartrand, Illegitimate DNA integration in mammalian cells, Gene Ther, vol.10, pp.1791-1799, 2003.

R. K. Wyse, S. Mahdawi, J. Burn, and K. Blake, Congenital heart disease in CHARGE association, Pediatr Cardiol, vol.14, pp.75-81, 1993.

F. Xie, L. Ye, J. C. Chang, A. I. Beyer, J. Wang et al., SeamLess gene correction of ?-thalassemia mutations in patient-specific iPSCs using CRISPR/Cas9 and piggyBac, Genome Res, vol.24, pp.1526-1533, 2014.

W. Xue, S. Chen, H. Yin, T. Tammela, T. Papagiannakopoulus et al., CRISPR-mediated direct mutation of cancer genes in the mouse liver, Nature, vol.514, pp.380-384, 2014.

L. Yang, M. Guell, S. Byrne, J. L. Yang, A. De-los-angeles et al., Optimization of scarless human stem cell genome editing, Nucleic Acids Res, vol.41, pp.9049-9061, 2013.

H. Yao, S. F. Hill, J. M. Skidmore, E. D. Sperry, D. L. Swiderski et al., CHD7 represses the retinoic acid synthesis enzyme ALDH1A3 during inner ear development, JCI Insight, vol.3, p.97440, 2018.

H. Yin, W. Xue, S. Chen, R. L. Bogorad, E. Benedetti et al., Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype, Nat Biotechnol, vol.32, pp.551-553, 2014.

K. Yoshimi, Y. Kunihiro, T. Kaneko, H. Nagahora, B. Voigt et al., ssODN-mediated knock-in with CRISPR-Cas for large genomic regions in zygotes, Nat Commun, vol.7, p.431, 2016.

C. Yu, Y. Liu, T. Ma, K. Liu, S. Xu et al., Small molecules enhance CRISPR genome editing in pluripotent stem cells, Cell Stem Cell, vol.16, pp.142-147, 2015.

T. Yu, L. C. Meiners, K. Danielsen, M. T. Wong, T. Bowler et al., Deregulated FGF and homeotic gene expres-sion underlies cerebellar vermis hypoplasia in CHARGE syndrome, Elife, vol.2, p.1305, 2013.

G. E. Zentner, E. A. Hurd, M. P. Schnetz, L. Handoko, C. Wang et al., CHD7 function in the nucleolus as a positive regulator of ribosomal RNA biogenesis, Hum Mol Genet, vol.19, pp.3491-3501, 2010.

G. E. Zentner, W. S. Layman, D. M. Martin, and P. C. Scacheri, Molecular and phenotypic aspect of CHD7 mutation in CHARGE syndrome, Am J Med Genet, vol.152, pp.674-86, 2010.

F. Zhang, L. Cong, S. Lodato, S. Kosuri, G. M. Church et al., Efficient construction of sequence-specific TAL effectors for modulating mammalian transcription, Nat Biotechnol, vol.29, pp.149-153, 2011.

F. Zhang, Y. Wen, and X. Guo, CRISPR/Cas9 for genome editing: progress, implications and challenges, Hum Mol Genet, vol.23, pp.40-46, 2014.

B. Zorin, P. Hegemann, and I. Sizova, Nuclear-gene targeting by using singlestranded DNA avoids illegitimate DNA integration in Chlamydomonas reinhardtii, Eukaryot Cell, vol.4, pp.1264-1272, 2005.

, Antibodies for Western blot and Immunofluorescence Primary antibodies: -Rabbit monoclonal antibody anti-CHD7 (1/1000, Cell Signaling) -Mouse monoclonal antibody anti-HA (1/1000

, -Mouse monoclonal antibody anti-FLAG (1/2000

, Sigma-Aldrich) -Rabbit polyclonal antibody anti-UBF (1/100, Santa Cruz) -Mouse monoclonal antibody anti-nucleolin (C23; 1/100, Santa Cruz) Secondary antibodies: -Polyclonal antibody goat anti-mouse IgG peroxidase-linked (1/10000, -Mouse monoclonal antibody anti-?-actin (1/10000

, Polyclonal antibody goat anti-rabbit IgG peroxidase-linked (1/5000

, RRX-conjugated goat anti-mouse IgG (H+L) (1/100

, -FITC-conjugated donkey anti-rabbit IgG (H+L) (1/50