Genetik Varyantlar ve Dil ve Konuşma Bozukluklarının Değerlendirilmesi

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., ... & Rehm, H. L. (2015). 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. Genetics in medicine, 17(5), 405-423. Doi: 10.1038/ gim.2015.30

Kurahashi, H., Bolor, H., Kato, T., Kogo, H., Tsutsumi, M., Inagaki, H., & Ohye, T. (2009). Recent advance in our understanding of the molecular nature of chromosomal abnormali- ties. Journal of human genetics, 54(5), 253–260. Doi:10.1038/jhg.2009.35

Montazerinezhad, S., Emamjomeh, A., & Hajieghrari, B. (2020). Chromosomal abnorma- lity, laboratory techniques, tools and databases in molecular Cytogenetics. Molecular Bio- logy Reports, 47(11), 9055-9073. Doi: 10.1007/s11033-020-05895-5.

Hassold, T., & Hunt, P. (2001). To err (meiotically) is human: the genesis of human aneup- loidy. Nature Reviews Genetics, 2(4), 280-291.

5. Skuse, D., Printzlau, F., & Wolstencroft, J. (2018). Doi:10.1016/B978-0-444-63233-3.00024-

5.

Tsou, A. Y., Bulova, P., Capone, G., Chicoine, B., Gelaro, B., Harville, T. O., ... & Whitten, M.

S. (2020). Medical care of adults with Down syndrome: A clinical guideline. Jama, 324(15), 1543-1556. Doi: 10.1001/jama.2020.17024.

Meyer, R. E., Liu, G., Gilboa, S. M., Ethen, M. K., Aylsworth, A. S., Powell, C. M., ... & Na- tional Birth Defects Prevention Network. (2016). Survival of children with trisomy 13 and trisomy 18: A multi‐state population‐based study. American journal of medical genetics Part A, 170(4), 825-837. Doi: 10.1002/ajmg.a.37495.

Lin, C., Yang, L., & Rosenfeld, M. G. (2012). Molecular logic underlying chromosomal translocations, random or non-random?. Advances in cancer research, 113, 241-279. Doi: 10.1016/B978-0-12-394280-7.00015-4.

Ogilvie, C. M., & Scriven, P. N. (2002). Meiotic outcomes in reciprocal translocation car- riers ascertained in 3-day human embryos. European Journal of Human Genetics, 10(12), 801-806. Doi: 10.1038/sj.ejhg.5200895.

Poot, M., & Hochstenbach, R. (2021). Prevalence and phenotypic impact of Robertsonian translocations. Molecular syndromology, 12(1), 1-11. Doi: 10.1159/000512676.

Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., ... & Miller, D. T. (2019). NDD Exome Scoping Review Work Group. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnos- tic test for individuals with neurodevelopmental disorders. Genet Med, 21(11), 2413-2421. Doi: 10.1038/s41436-019-0554-6.

Kurtovic-Kozaric, A., Mehinovic, L., Stomornjak-Vukadin, M., Kurtovic-Basic, I., Catibu- sic, F., Kozaric, M., ... & Sumanovic-Glamuzina, D. (2016). Diagnostics of common mic- rodeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country. Bosnian journal of basic medical sciences, 16(2), 121. Doi: 10.17305/ bjbms.2016.994.

Whibley, A. C., Plagnol, V., Tarpey, P. S., Abidi, F., Fullston, T., Choma, M. K., ... & Ray- mond, F. L. (2010). Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. The American Journal of Human Genetics, 87(2), 173-188. Doi: 10.1016/j.ajhg.2010.06.017.

Gu, S., Szafranski, P., Akdemir, Z. C., Yuan, B., Cooper, M. L., Magriñá, M. A., ... & Lups- ki, J. R. (2016). Mechanisms for complex chromosomal insertions. PLoS Genetics, 12(11), e1006446. Doi: 10.1371/journal.pgen.1006446.

Chien, C. W., Chao, A. S., Chang, Y. L., Chen, K. J., Peng, H. H., Lin, Y. T., ... & Chang, S. D. (2022). Frequency and clinical significance of chromosomal inversions prenatally diagno- sed by second trimester amniocentesis. Scientific Reports, 12(1), 1-7. Doi: 10.1038/s41598- 022-06024-x.

Myers, K. A., Bennett, M. F., Hildebrand, M. S., Coleman, M. J., Zhou, G., Hollingsworth, G., ... & Scheffer, I. E. (2021). Transcriptome analysis of a ring chromosome 20 patient co- hort. Epilepsia, 62(1), e22-e28. Doi: 10.1111/epi.16766.

Cetin, Z., Mendilcioglu, I., Yakut, S. E. Z. İ. N., Berker-Karauzum, S. İ. B. E. L., Karaman, B., & Luleci, G. (2011). Turner syndrome with isochromosome Xq and familial reciprocal translocation t (4; 16)(p15. 2; p13. 1). Balkan Journal of Medical Genetics: BJMG, 14(1), 57. Doi: 10.2478/v10034-011-0019-y.

Yang, R., Guo, W., Wang, J., You, Y., Song, L., Jiang, M., & Li, Q. (2021). Isochromosome 11q is Associated with Unique Characteristics and Poor Prognosis in Patients with Acute Myeloid Leukemia. Clinical Laboratory, 67(6). Doi: 10.7754/Clin.Lab.2020.191241.

Kloosterman, W. P., Guryev, V., van Roosmalen, M., Duran, K. J., de Bruijn, E., Bakker, S. C., ... & Cuppen, E. (2011). Chromothripsis as a mechanism driving complex de novo stru- ctural rearrangements in the germline. Human molecular genetics, 20(10), 1916-1924. Doi: 10.1093/hmg/ddr073.

Pös, O., Radvanszky, J., Buglyó, G., Pös, Z., Rusnakova, D., Nagy, B., & Szemes, T. (2021). DNA copy number variation: Main characteristics, evolutionary significance, and patho- logical aspects. biomedical journal, 44(5), 548-559. Doi: 10.1016/j.bj.2021.02.003.

Pearson, J. C., Lemons, D., & McGinnis, W. (2005). Modulating Hox gene functions during animal body patterning. Nature Reviews Genetics, 6(12), 893-904. Doi: 10.1038/nrg1689.

Butler, M. G. (2020). Imprinting disorders in humans: a review. Current opinion in pediat- rics, 32(6), 719. Doi: 10.1097/MOP.0000000000000965

Buiting, K. (2010, August). Prader–Willi syndrome and Angelman syndrome. In Ameri- can Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 154, No. 3, pp. 365-376). Hoboken: Wiley Subscription Services, Inc., A Wiley Company. Doi: 10.1002/ ajmg.c.30273

Pelley, W.J., Protein synthesis and degradation (Chp17). Elsevier’s Integrated Review Bioc- hemistry 2nd Edition (pp:149-160) Elsevier, Saunders. Philadephia, PA 19103-2899.

Zhu, Q., McAuliffe, J. M., Patel, N. K., Palmer-Hill, F. J., Yang, C. F., Liang, B., ... & Suzich,

J. A. (2011). Analysis of respiratory syncytial virus preclinical and clinical variants resistant to neutralization by monoclonal antibodies palivizumab and/or motavizumab. Journal of Infectious Diseases, 203(5), 674-682. Doi: 10.1093/infdis/jiq100

Tokuriki, N., Stricher, F., Schymkowitz, J., Serrano, L., & Tawfik, D. S. (2007). The stability effects of protein mutations appear to be universally distributed. Journal of molecular bio- logy, 369(5), 1318-1332. Doi: 10.1016/j.jmb.2007.03.069.

Guo, H. H., Choe, J., & Loeb, L. A. (2004). Protein tolerance to random amino acid chan- ge. Proceedings of the National Academy of Sciences, 101(25), 9205-9210. Doi: 10.1073/ pnas.0403255101

Guerra, J., & Cacabelos, R. (2019). Genomics of speech and language disorders. Journal of Translational Genetics and Genomics, 3, 9. Doi: 10.20517/jtgg.2018.03

Szalontai, A., & Csiszár, K. (2013). Genetic insights into the functional elements of langua- ge. Human Genetics, 132(9), 959-986. Doi: 10.1007/s00439-013-1317-0

Sherman, B. M., & Korenman, S. G. (1975). Hormonal characteristics of the human menst- rual cycle throughout reproductive life. The Journal of clinical investigation, 55(4), 699-706. Doi: 10.1172/JCI107979

Kent, R. D. (2022). The maturational gradient of infant vocalizations: developmental stages and functional modules. Infant Behavior and Development, 66, 101682. Doi: 10.1016/j.inf- beh.2021.101682

Chenausky, K. V., & Tager-Flusberg, H. (2022). The importance of deep speech phenoty- ping for neurodevelopmental and genetic disorders: a conceptual review. Journal of Neuro- developmental Disorders, 14(1), 1-14. Doi: 10.1186/s11689-022-09443-z

Luciano, M., Evans, D. M., Hansell, N. K., Medland, S. E., Montgomery, G. W., Martin, N. G., Wright, M. J., & Bates, T. C. (2013). A genome-wide association study for reading and language abilities in two population cohorts. Genes, brain, and behavior, 12(6), 645–652. Doi: 10.1111/gbb.12053

Eicher, J. D., Powers, N. R., Cho, K., Miller, L. L., Mueller, K. L., Ring, S. M., ... & Gruen, J. R. (2013). Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language. PloS one, 8(5), e63762. Doi: 10.1371/journal.pone.0063762

Peter, B., Wijsman, E. M., Nato Jr, A. Q., University of Washington Center for Mendelian Genomics, Matsushita, M. M., Chapman, K. L., ... & Raskind, W. H. (2016). Genetic candi- date variants in two multigenerational families with childhood apraxia of speech. PloS one, 11(4), e0153864. Doi: 10.1371/journal.pone.0153864

Thevenon, J., Callier, P., Andrieux, J., Delobel, B., David, A., Sukno, S., ... & Faivre, L. (2013). 12p13. 33 microdeletion including ELKS/ERC1, a new locus associated with chil- dhood apraxia of speech. European Journal of Human Genetics, 21(1), 82-88. Doi: 10.1038/ ejhg.2012.116

Frigerio‐Domingues, C., & Drayna, D. (2017). Genetic contributions to stuttering: the cur- rent evidence. Molecular genetics & genomic medicine, 5(2), 95-102. Doi: 10.1002/mgg3.276

Mez, J., Cosentino, S., Brickman, A. M., Huey, E. D., & Mayeux, R. (2013). Different demog- raphic, genetic, and longitudinal traits in language versus memory Alzheimer’s subgroups. Journal of Alzheimer’s Disease, 37(1), 137-146. Doi: 10.3233/JAD-130320

Premi, E., Pilotto, A., Alberici, A., Papetti, A., Archetti, S., Seripa, D., ... & Borroni, B. (2012). FOXP2, APOE, and PRNP: new modulators in primary progressive aphasia. Jour- nal of Alzheimer’s Disease, 28(4), 941-950. Doi: 10.3233/JAD-2011-111541

Veerappa, A. M., Saldanha, M., Padakannaya, P., & Ramachandra, N. B. (2014). Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics. American journal of medical genetics. Part B, Neuropsychiatric genetics : the offi- cial publication of the International Society of Psychiatric Genetics, 165B(7), 572–580. Doi: 10.1002/ajmg.b.32260

Worthey, E. A., Raca, G., Laffin, J. J., Wilk, B. M., Harris, J. M., Jakielski, K. J., Dimmock, D. P., Strand, E. A., & Shriberg, L. D. (2013). Whole-exome sequencing supports genetic hete- rogeneity in childhood apraxia of speech. Journal of neurodevelopmental disorders, 5(1), 29. Doi: 10.1186/1866-1955-5-29

Newbury, D. F., Winchester, L., Addis, L., Paracchini, S., Buckingham, L. L., Clark, A., Co- hen, W., Cowie, H., Dworzynski, K., Everitt, A., Goodyer, I. M., Hennessy, E., Kindley, A. D., Miller, L. L., Nasir, J., O’Hare, A., Shaw, D., Simkin, Z., Simonoff, E., Slonims, V., … Monaco, A. P. (2009). CMIP and ATP2C2 modulate phonological short-term memory in language impairment. American journal of human genetics, 85(2), 264–272. Doi: 10.1016/j. ajhg.2009.07.004

Eicher, J. D., & Gruen, J. R. (2015). Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders. Autism Research, 8(2), 229-234. Doi: 10.1002/aur.1436

Anthoni, H., Zucchelli, M., Matsson, H., Müller-Myhsok, B., Fransson, I., Schumacher, J., Massinen, S., Onkamo, P., Warnke, A., Griesemann, H., Hoffmann, P., Nopola-Hemmi, J., Lyytinen, H., Schulte-Körne, G., Kere, J., Nöthen, M. M., & Peyrard-Janvid, M. (2007). A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Human molecular genetics, 16(6), 667–677. Doi: 10.1093/hmg/ddm009

Eising, E., Carrion-Castillo, A., Vino, A., Strand, E. A., Jakielski, K. J., Scerri, T. S., ... & Fisher, S. E. (2019). A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Molecular psychiatry, 24(7), 1065-1078. Doi: 10.1038/s41380-018-0020-x

Scerri, T. S., Paracchini, S., Morris, A., MacPhie, I. L., Talcott, J., Stein, J., ... & Monaco, A.

P. (2010). Identification of candidate genes for dyslexia susceptibility on chromosome 18.

PloS one, 5(10), e13712. Doi: 10.1371/journal.pone.0013712

Newbury, D. F., Winchester, L., Addis, L., Paracchini, S., Buckingham, L. L., Clark, A., ... & Monaco, A. P. (2009). CMIP and ATP2C2 modulate phonological short-term memory in language impairment. The American Journal of Human Genetics, 85(2), 264-272. Doi: 10.1016/j.ajhg.2009.07.004

Belloso, J. M., Bache, I., Guitart, M., Caballin, M. R., Halgren, C., Kirchhoff, M., ... & Tü- mer, Z. (2007). Disruption of the CNTNAP2 gene in at (7; 15) translocation family without symptoms of Gilles de la Tourette syndrome. European Journal of Human Genetics, 15(6), 711-713. Doi: 10.1038/sj.ejhg.5201824

Falsaperla, R., Pappalardo, X. G., Romano, C., Marino, S. D., Corsello, G., Ruggieri, M., Parano, E., & Pavone, P. (2020). Intronic Variant in CNTNAP2 Gene in a Boy With Remar- kable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures. Frontiers in pediatrics, 8, 550. Doi: 10.3389/fped.2020.00550

Eicher, J. D., Powers, N. R., Miller, L. L., Akshoomoff, N., Amaral, D. G., Bloss, C. S., Libiger, O., Schork, N. J., Darst, B. F., Casey, B. J., Chang, L., Ernst, T., Frazier, J., Kaufmann, W. E., Keating, B., Kenet, T., Kennedy, D., Mostofsky, S., Murray, S. S., Sowell, E. R., … Pediatric

Imaging, Neurocognition, and Genetics Study (2013). Genome-wide association study of shared components of reading disability and language impairment. Genes, brain, and beha- vior, 12(8), 792–801. Doi: 10.1111/gbb.12085

Landi, N., Frost, S. J., Mencl, W. E., Preston, J. L., Jacobsen, L. K., Lee, M., Yrigollen, C., Pugh, K. R., & Grigorenko, E. L. (2013). The COMT Val/Met polymorphism is associated with reading-related skills and consistent patterns of functional neural activation. Develop- mental science, 16(1), 13–23. Doi: 10.1111/j.1467-7687.2012.01180.x.

Cheung, J., Petek, E., Nakabayashi, K., Tsui, L. C., Vincent, J. B., & Scherer, S. W. (2001). Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Genomics, 78(1-2), 7–11. Doi: 10.1006/geno.2001.6651.

Anthoni, H., Sucheston, L. E., Lewis, B. A., Tapia-Páez, I., Fan, X., Zucchelli, M., Taipale, M., Stein, C. M., Hokkanen, M. E., Castrén, E., Pennington, B. F., Smith, S. D., Olson, R. K., Tomblin, J. B., Schulte-Körne, G., Nöthen, M., Schumacher, J., Müller-Myhsok, B., Hoff- mann, P., Gilger, J. W., … Kere, J. (2012). The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language. Behavior genetics, 42(4), 509–527. Doi: 10.1007/s10519-012-9532-3.

Scerri, T. S., Morris, A. P., Buckingham, L. L., Newbury, D. F., Miller, L. L., Monaco, A. P., Bishop, D. V., & Paracchini, S. (2011). DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Biological psychiatry, 70(3), 237–245. Doi: 10.1016/j.biopsy- ch.2011.02.005.

Scerri, T. S., Macpherson, E., Martinelli, A., Wa, W. C., Monaco, A. P., Stein, J., Zheng, M., Suk-Han Ho, C., McBride, C., Snowling, M., Hulme, C., Hayiou-Thomas, M. E., Waye, M., Talcott, J. B., & Paracchini, S. (2017). The DCDC2 deletion is not a risk factor for dyslexia. Translational psychiatry, 7(7), e1182. Doi: 10.1038/tp.2017.151.

Chen, Y., Zhao, H., Zhang, Y. X., & Zuo, P. X. (2017). DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children. Neural regeneration research, 12(2), 259–266. Doi: 10.4103/1673-5374.200809.

Taipale, M., Kaminen, N., Nopola-Hemmi, J., Haltia, T., Myllyluoma, B., Lyytinen, H., Mul- ler, K., Kaaranen, M., Lindsberg, P. J., Hannula-Jouppi, K., & Kere, J. (2003). A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proceedings of the National Academy of Sciences of the Uni- ted States of America, 100(20), 11553–11558. Doi: 10.1073/pnas.1833911100.

Lim, C. K., Ho, C. S., Chou, C. H., & Waye, M. M. (2011). Association of the rs3743205 variant of DYX1C1 with dyslexia in Chinese children. Behavioral and brain functions: BBF, 7, 16. Doi: 10.1186/1744-9081-7-16.

Massinen, S., Tammimies, K., Tapia-Páez, I., Matsson, H., Hokkanen, M. E., Söderberg, O., Landegren, U., Castrén, E., Gustafsson, J. A., Treuter, E., & Kere, J. (2009). Functional inte- raction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia. Human molecular genetics, 18(15), 2802–2812. Doi: 10.1093/hmg/ddp215.

Fagerheim, T., Raeymaekers, P., Tønnessen, F. E., Pedersen, M., Tranebjaerg, L., & Lubs, H.

(1999). A new gene (DYX3) for dyslexia is located on chromosome 2. Journal of medical genetics, 36(9), 664–669.

Massinen, S., Wang, J., Laivuori, K., Bieder, A., Tapia Paez, I., Jiao, H., & Kere, J. (2016). Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1. Journal of neurodevelopmental disorders, 8, 4. Doi: 10.1186/s11689-016-9136-y

Mandahl, N., Magnusson, L., Nilsson, J., Viklund, B., Arbajian, E., von Steyern, F. V., Isak- sson, A., & Mertens, F. (2017). Scattered genomic amplification in dedifferentiated liposar- coma. Molecular cytogenetics, 10, 25. Doi: 10.1186/s13039-017-0325-5.

Fisher, S. E., Francks, C., Marlow, A. J., MacPhie, I. L., Newbury, D. F., Cardon, L. R., Ishi- kawa-Brush, Y., Richardson, A. J., Talcott, J. B., Gayán, J., Olson, R. K., Pennington, B. F., Smith, S. D., DeFries, J. C., Stein, J. F., & Monaco, A. P. (2002). Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nature gene- tics, 30(1), 86–91. Doi: doi.org/10.1038/ng792

de Kovel, C. G., Hol, F. A., Heister, J. G., Willemen, J. J., Sandkuijl, L. A., Franke, B., & Pad- berg, G. W. (2004). Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family. Journal of medical genetics, 41(9), 652–657. Doi: 10.1136/ jmg.2003.012294.

Panjwani, N., Wilson, M. D., Addis, L., Crosbie, J., Wirrell, E., Auvin, S., Caraballo, R. H., Kinali, M., McCormick, D., Oren, C., Taylor, J., Trounce, J., Clarke, T., Akman, C. I., Kugler,

S. L., Mandelbaum, D. E., McGoldrick, P., Wolf, S. M., Arnold, P., Schachar, R., Strug, L.

J. (2016). A microRNA-328 binding site in PAX6 is associated with centrotemporal spi- kes of rolandic epilepsy. Annals of clinical and translational neurology, 3(7), 512–522. Doi: 10.1002/acn3.320.

Benayed, R., Gharani, N., Rossman, I., Mancuso, V., Lazar, G., Kamdar, S., Bruse, S. E., Tischfield, S., Smith, B. J., Zimmerman, R. A., Dicicco-Bloom, E., Brzustowicz, L. M., & Millonig, J. H. (2005). Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. American journal of human genetics, 77(5), 851–868. Doi: 10.1086/497705.

Bacon, C., & Rappold, G. A. (2012). The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders. Human genetics, 131(11), 1687–1698. Doi: 10.1007/s00439-012-1193-z.

Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M. O., Joober, R., Lafrenière, R. G., Lacaille, J. C., Mottron, L., Drapeau, P., Beauchamp, M. H., Phillips, M. S., Fombonne, E., Rouleau, G. A., & Michaud,

J. L. (2010). De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. American journal of human genetics, 87(5), 671–678. Doi: 10.1016/j. ajhg.2010.09.017.

Le Fevre, A. K., Taylor, S., Malek, N. H., Horn, D., Carr, C. W., Abdul-Rahman, O. A., O’Donnell, S., Burgess, T., Shaw, M., Gecz, J., Bain, N., Fagan, K., & Hunter, M. F. (2013). FOXP1 mutations cause intellectual disability and a recognizable phenotype. American journal of medical genetics. Part A, 161A(12), 3166–3175. Doi: 10.1002/ajmg.a.36174.

Chien, W. H., Gau, S. S., Chen, C. H., Tsai, W. C., Wu, Y. Y., Chen, P. H., Shang, C. Y., & Chen, C. H. (2013). Increased gene expression of FOXP1 in patients with autism spectrum disorders. Molecular autism, 4(1), 23. Doi: 10.1186/2040-2392-4-23.

Reuter, M. S., Riess, A., Moog, U., Briggs, T. A., Chandler, K. E., Rauch, A., Stampfer, M., Steindl, K., Gläser, D., Joset, P., DDD Study, Krumbiegel, M., Rabe, H., Schulte-Mattler, U., Bauer, P., Beck-Wödl, S., Kohlhase, J., Reis, A., & Zweier, C. (2017). FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutatio- nal and clinical spectrum. Journal of medical genetics, 54(1), 64–72. Doi: 10.1136/jmedge- net-2016-104094.

Oswald, F., Klöble, P., Ruland, A., Rosenkranz, D., Hinz, B., Butter, F., Ramljak, S., Ze- chner, U., & Herlyn, H. (2017). The FOXP2-Driven Network in Developmental Disor- ders and Neurodegeneration. Frontiers in cellular neuroscience, 11, 212. Doi: 10.3389/fn- cel.2017.00212.

Becker, M., Devanna, P., Fisher, S. E., & Vernes, S. C. (2018). Mapping of Human FOXP2 Enhancers Reveals Complex Regulation. Frontiers in molecular neuroscience, 11, 47. Doi: 10.3389/fnmol.2018.00047.

Liégeois, F. J., Hildebrand, M. S., Bonthrone, A., Turner, S. J., Scheffer, I. E., Bahlo, M., Connelly, A., & Morgan, A. T. (2016). Early neuroimaging markers of FOXP2 intragenic deletion. Scientific reports, 6, 35192. Doi: 10.1038/srep35192.

Morgan, A., Fisher, S. E., Scheffer, I., & Hildebrand, M. (2016). FOXP2-Related Speech and Language Disorders. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.

Pinel, P., Fauchereau, F., Moreno, A., Barbot, A., Lathrop, M., Zelenika, D., Le Bihan, D., Po- line, J. B., Bourgeron, T., & Dehaene, S. (2012). Genetic variants of FOXP2 and KIAA0319/ TTRAP/THEM2 locus are associated with altered brain activation in distinct language-re- lated regions. The Journal of neuroscience : the official journal of the Society for Neuroscience, 32(3), 817–825. Doi: 10.1523/JNEUROSCI.5996-10.2012.

Roll, P., Vernes, S. C., Bruneau, N., Cillario, J., Ponsole-Lenfant, M., Massacrier, A., Rudolf, G., Khalife, M., Hirsch, E., Fisher, S. E., & Szepetowski, P. (2010). Molecular networks imp- licated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Human molecular genetics, 19(24), 4848–4860. Doi: 10.1093/hmg/ddq415.

Newbury, D. F., Bonora, E., Lamb, J. A., Fisher, S. E., Lai, C. S., Baird, G., Jannoun, L., Slonims, V., Stott, C. M., Merricks, M. J., Bolton, P. F., Bailey, A. J., Monaco, A. P., & Inter- national Molecular Genetic Study of Autism Consortium (2002). FOXP2 is not a major susceptibility gene for autism or specific language impairment. American journal of human genetics, 70(5), 1318–1327. Doi: 10.1086/339931.

Clovis, Y. M., Enard, W., Marinaro, F., Huttner, W. B., & De Pietri Tonelli, D. (2012). Con- vergent repression of Foxp2 3’UTR by miR-9 and miR-132 in embryonic mouse neocortex: implications for radial migration of neurons. Development (Cambridge, England), 139(18), 3332–3342. Doi: 10.1242/dev.078063.

Deters, K. D., Nho, K., Risacher, S. L., Kim, S., Ramanan, V. K., Crane, P. K., Apostolova,

L. G., Saykin, A. J., & Alzheimer’s Disease Neuroimaging Initiative (2017). Genome-wide association study of language performance in Alzheimer’s disease. Brain and language, 172, 22–29. Doi: 10.1016/j.bandl.2017.04.008.

Kazemi, N., Estiar, M. A., Fazilaty, H., & Sakhinia, E. (2018). Variants in GNPTAB, GNP- TG and NAGPA genes are associated with stutterers. Gene, 647, 93–100. Doi: 10.1016/j. gene.2017.12.054.

Rogalski, E., Weintraub, S., & Mesulam, M. M. (2013). Are there susceptibility factors for primary progressive aphasia?. Brain and language, 127(2), 135–138. Doi: 10.1016/j. bandl.2013.02.004.

Comings, D. E., Wu, S., Chiu, C., Muhleman, D., & Sverd, J. (1996). Studies of the c-Har- vey-Ras gene in psychiatric disorders. Psychiatry research, 63(1), 25-32. Doi: 10.1016/0165- 1781(96)02829-6.

Harold, D., Paracchini, S., Scerri, T., Dennis, M., Cope, N., Hill, G., Moskvina, V., Walter, J., Richardson, A. J., Owen, M. J., Stein, J. F., Green, E. D., O’Donovan, M. C., Williams, J., & Monaco, A. P. (2006). Further evidence that the KIAA0319 gene confers suscepti- bility to developmental dyslexia. Molecular psychiatry, 11(12), 1085–1061. Doi: 10.1038/ sj.mp.4001904.

Shi, Z., Luo, G., Fu, L., Fang, Z., Wang, X., & Li, X. (2013). miR-9 and miR-140-5p target FoxP2 and are regulated as a function of the social context of singing behavior in zebra fin- ches. The Journal of neuroscience : the official journal of the Society for Neuroscience, 33(42), 16510–16521. Doi: 10.1523/JNEUROSCI.0838-13.2013.

Jiménez-Romero, S., Carrasco-Salas, P., & Benítez-Burraco, A. (2018). Language and Cog- nitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcrip- tional Regulator. Molecular syndromology, 9(2), 83–91. Doi: 10.1159/000485638.

Judson, M. C., Amaral, D. G., & Levitt, P. (2011). Conserved subcortical and divergent cortical expression of proteins encoded by orthologs of the autism risk gene MET. Cerebral cortex (New York, N.Y. : 1991), 21(7), 1613–1626. Doi: 10.1093/cercor/bhq223.

Sousa, I., Clark, T. G., Toma, C., Kobayashi, K., Choma, M., Holt, R., Sykes, N. H., Lamb, J. A., Bailey, A. J., Battaglia, A., Maestrini, E., Monaco, A. P., & International Molecular Genetic Study of Autism Consortium (IMGSAC) (2009). MET and autism susceptibility: family and case-control studies. European journal of human genetics : EJHG, 17(6), 749–758. Doi: 10.1038/ejhg.2008.215.

Castermans, D., Wilquet, V., Parthoens, E., Huysmans, C., Steyaert, J., Swinnen, L., Fryns, J. P., Van de Ven, W., & Devriendt, K. (2003). The neurobeachin gene is disrupted by a trans- location in a patient with idiopathic autism. Journal of medical genetics, 40(5), 352–356. Doi: 10.1136/jmg.40.5.352.

Villanueva, P., Nudel, R., Hoischen, A., Fernández, M. A., Simpson, N. H., Gilissen, C., Rea- der, R. H., Jara, L., Echeverry, M. M., Francks, C., Baird, G., Conti-Ramsden, G., O’Hare, A., Bolton, P. F., Hennessy, E. R., SLI Consortium, Palomino, H., Carvajal-Carmona, L., Velt- man, J. A., Cazier, J. B., … Newbury, D. F. (2015). Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment. PLoS genetics, 11(3), e1004925. Doi: 10.1371/journal.pgen.1004925.

Nudel, R., Simpson, N. H., Baird, G., O’Hare, A., Conti-Ramsden, G., Bolton, P. F., Hennes- sy, E. R., SLI Consortium, Ring, S. M., Davey Smith, G., Francks, C., Paracchini, S., Monaco,

P., Fisher, S. E., & Newbury, D. F. (2014). Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. Genes, brain, and behavior, 13(4), 418–429. Doi: 10.1111/gbb.12127.

Veerappa, A. M., Saldanha, M., Padakannaya, P., & Ramachandra, N. B. (2014). Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics. American journal of medical genetics. Part B, Neuropsychiatric genetics : the offi- cial publication of the International Society of Psychiatric Genetics, 165B(7), 572–580. Doi: 10.1002/ajmg.b.32260.

Naqvi, S., Cole, T., Graham, JM. (2000) Cole-Hughes macrocephaly syndrome and asso- ciated autistic manifestations. AM J Med Genet. Doi: 10.1002/1096-8628(20000911)94: 2<149::aid-ajmg7>3.0.co;2-#

Hannula-Jouppi, K., Kaminen-Ahola, N., Taipale, M., Eklund, R., Nopola-Hemmi, J., Kää- riäinen, H., & Kere, J. (2005). The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS genetics, 1(4), e50. Doi: 10.1371/journal.pgen.0010050.

St Pourcain, B., Cents, R. A., Whitehouse, A. J., Haworth, C. M., Davis, O. S., O’Reilly, P. F., Roulstone, S., Wren, Y., Ang, Q. W., Velders, F. P., Evans, D. M., Kemp, J. P., Warrington,

N. M., Miller, L., Timpson, N. J., Ring, S. M., Verhulst, F. C., Hofman, A., Rivadeneira, F., Meaburn, E. L., Davey Smith, G. (2014). Common variation near ROBO2 is associa- ted with expressive vocabulary in infancy. Nature communications, 5, 4831. Doi: 10.1038/ ncomms5831.

Kalnak, N., Stamouli, S., Peyrard-Janvid, M., Rabkina, I., Becker, M., Klingberg, T., Kere, J., Forssberg, H., & Tammimies, K. (2018). Enrichment of rare copy number variation in children with developmental language disorder. Clinical genetics, 94(3-4), 313–320. Doi: 10.1111/cge.13389.

Sia, G. M., Clem, R. L., & Huganir, R. L. (2013). The human language-associated gene SRPX2 regulates synapse formation and vocalization in mice. Science (New York, N.Y.), 342(6161), 987–991. Doi: 10.1126/science.1245079.

Soteros, B. M., Cong, Q., Palmer, C. R., & Sia, G. M. (2018). Sociability and synapse subt- ype-specific defects in mice lacking SRPX2, a language-associated gene. PloS one, 13(6), e0199399. Doi: 10.1371/journal.pone.0199399.

Anthoni, H., Sucheston, L. E., Lewis, B. A., Tapia-Páez, I., Fan, X., Zucchelli, M., Taipale, M., Stein, C. M., Hokkanen, M. E., Castrén, E., Pennington, B. F., Smith, S. D., Olson, R. K., Tomblin, J. B., Schulte-Körne, G., Nöthen, M., Schumacher, J., Müller-Myhsok, B., Hoff- mann, P., Gilger, J. W., … Kere, J. (2012). The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language. Behavior genetics, 42(4), 509–527. Doi: 10.1007/s10519-012-9532-3.

Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., ... & Rehm, H. L. (2015). 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. Genetics in medicine, 17(5), 405-423. Doi: 10.1038/ gim.2015.30

Kurahashi, H., Bolor, H., Kato, T., Kogo, H., Tsutsumi, M., Inagaki, H., & Ohye, T. (2009). Recent advance in our understanding of the molecular nature of chromosomal abnormali- ties. Journal of human genetics, 54(5), 253–260. Doi:10.1038/jhg.2009.35

Montazerinezhad, S., Emamjomeh, A., & Hajieghrari, B. (2020). Chromosomal abnorma- lity, laboratory techniques, tools and databases in molecular Cytogenetics. Molecular Bio- logy Reports, 47(11), 9055-9073. Doi: 10.1007/s11033-020-05895-5.

Hassold, T., & Hunt, P. (2001). To err (meiotically) is human: the genesis of human aneup- loidy. Nature Reviews Genetics, 2(4), 280-291.

5. Skuse, D., Printzlau, F., & Wolstencroft, J. (2018). Doi:10.1016/B978-0-444-63233-3.00024-

5.

Tsou, A. Y., Bulova, P., Capone, G., Chicoine, B., Gelaro, B., Harville, T. O., ... & Whitten, M.

S. (2020). Medical care of adults with Down syndrome: A clinical guideline. Jama, 324(15), 1543-1556. Doi: 10.1001/jama.2020.17024.

Meyer, R. E., Liu, G., Gilboa, S. M., Ethen, M. K., Aylsworth, A. S., Powell, C. M., ... & Na- tional Birth Defects Prevention Network. (2016). Survival of children with trisomy 13 and trisomy 18: A multi‐state population‐based study. American journal of medical genetics Part A, 170(4), 825-837. Doi: 10.1002/ajmg.a.37495.

Lin, C., Yang, L., & Rosenfeld, M. G. (2012). Molecular logic underlying chromosomal translocations, random or non-random?. Advances in cancer research, 113, 241-279. Doi: 10.1016/B978-0-12-394280-7.00015-4.

Ogilvie, C. M., & Scriven, P. N. (2002). Meiotic outcomes in reciprocal translocation car- riers ascertained in 3-day human embryos. European Journal of Human Genetics, 10(12), 801-806. Doi: 10.1038/sj.ejhg.5200895.

Poot, M., & Hochstenbach, R. (2021). Prevalence and phenotypic impact of Robertsonian translocations. Molecular syndromology, 12(1), 1-11. Doi: 10.1159/000512676.

Srivastava, S., Love-Nichols, J. A., Dies, K. A., Ledbetter, D. H., Martin, C. L., Chung, W. K., ... & Miller, D. T. (2019). NDD Exome Scoping Review Work Group. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnos- tic test for individuals with neurodevelopmental disorders. Genet Med, 21(11), 2413-2421. Doi: 10.1038/s41436-019-0554-6.

Kurtovic-Kozaric, A., Mehinovic, L., Stomornjak-Vukadin, M., Kurtovic-Basic, I., Catibu- sic, F., Kozaric, M., ... & Sumanovic-Glamuzina, D. (2016). Diagnostics of common mic- rodeletion syndromes using fluorescence in situ hybridization: single center experience in a developing country. Bosnian journal of basic medical sciences, 16(2), 121. Doi: 10.17305/ bjbms.2016.994.

Whibley, A. C., Plagnol, V., Tarpey, P. S., Abidi, F., Fullston, T., Choma, M. K., ... & Ray- mond, F. L. (2010). Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. The American Journal of Human Genetics, 87(2), 173-188. Doi: 10.1016/j.ajhg.2010.06.017.

Gu, S., Szafranski, P., Akdemir, Z. C., Yuan, B., Cooper, M. L., Magriñá, M. A., ... & Lups- ki, J. R. (2016). Mechanisms for complex chromosomal insertions. PLoS Genetics, 12(11), e1006446. Doi: 10.1371/journal.pgen.1006446.

Chien, C. W., Chao, A. S., Chang, Y. L., Chen, K. J., Peng, H. H., Lin, Y. T., ... & Chang, S. D. (2022). Frequency and clinical significance of chromosomal inversions prenatally diagno- sed by second trimester amniocentesis. Scientific Reports, 12(1), 1-7. Doi: 10.1038/s41598- 022-06024-x.

Myers, K. A., Bennett, M. F., Hildebrand, M. S., Coleman, M. J., Zhou, G., Hollingsworth, G., ... & Scheffer, I. E. (2021). Transcriptome analysis of a ring chromosome 20 patient co- hort. Epilepsia, 62(1), e22-e28. Doi: 10.1111/epi.16766.

Cetin, Z., Mendilcioglu, I., Yakut, S. E. Z. İ. N., Berker-Karauzum, S. İ. B. E. L., Karaman, B., & Luleci, G. (2011). Turner syndrome with isochromosome Xq and familial reciprocal translocation t (4; 16)(p15. 2; p13. 1). Balkan Journal of Medical Genetics: BJMG, 14(1), 57. Doi: 10.2478/v10034-011-0019-y.

Yang, R., Guo, W., Wang, J., You, Y., Song, L., Jiang, M., & Li, Q. (2021). Isochromosome 11q is Associated with Unique Characteristics and Poor Prognosis in Patients with Acute Myeloid Leukemia. Clinical Laboratory, 67(6). Doi: 10.7754/Clin.Lab.2020.191241.

Kloosterman, W. P., Guryev, V., van Roosmalen, M., Duran, K. J., de Bruijn, E., Bakker, S. C., ... & Cuppen, E. (2011). Chromothripsis as a mechanism driving complex de novo stru- ctural rearrangements in the germline. Human molecular genetics, 20(10), 1916-1924. Doi: 10.1093/hmg/ddr073.

Pös, O., Radvanszky, J., Buglyó, G., Pös, Z., Rusnakova, D., Nagy, B., & Szemes, T. (2021). DNA copy number variation: Main characteristics, evolutionary significance, and patho- logical aspects. biomedical journal, 44(5), 548-559. Doi: 10.1016/j.bj.2021.02.003.

Pearson, J. C., Lemons, D., & McGinnis, W. (2005). Modulating Hox gene functions during animal body patterning. Nature Reviews Genetics, 6(12), 893-904. Doi: 10.1038/nrg1689.

Butler, M. G. (2020). Imprinting disorders in humans: a review. Current opinion in pediat- rics, 32(6), 719. Doi: 10.1097/MOP.0000000000000965

Buiting, K. (2010, August). Prader–Willi syndrome and Angelman syndrome. In Ameri- can Journal of Medical Genetics Part C: Seminars in Medical Genetics (Vol. 154, No. 3, pp. 365-376). Hoboken: Wiley Subscription Services, Inc., A Wiley Company. Doi: 10.1002/ ajmg.c.30273

Pelley, W.J., Protein synthesis and degradation (Chp17). Elsevier’s Integrated Review Bioc- hemistry 2nd Edition (pp:149-160) Elsevier, Saunders. Philadephia, PA 19103-2899.

Zhu, Q., McAuliffe, J. M., Patel, N. K., Palmer-Hill, F. J., Yang, C. F., Liang, B., ... & Suzich,

J. A. (2011). Analysis of respiratory syncytial virus preclinical and clinical variants resistant to neutralization by monoclonal antibodies palivizumab and/or motavizumab. Journal of Infectious Diseases, 203(5), 674-682. Doi: 10.1093/infdis/jiq100

Tokuriki, N., Stricher, F., Schymkowitz, J., Serrano, L., & Tawfik, D. S. (2007). The stability effects of protein mutations appear to be universally distributed. Journal of molecular bio- logy, 369(5), 1318-1332. Doi: 10.1016/j.jmb.2007.03.069.

Guo, H. H., Choe, J., & Loeb, L. A. (2004). Protein tolerance to random amino acid chan- ge. Proceedings of the National Academy of Sciences, 101(25), 9205-9210. Doi: 10.1073/ pnas.0403255101

Guerra, J., & Cacabelos, R. (2019). Genomics of speech and language disorders. Journal of Translational Genetics and Genomics, 3, 9. Doi: 10.20517/jtgg.2018.03

Szalontai, A., & Csiszár, K. (2013). Genetic insights into the functional elements of langua- ge. Human Genetics, 132(9), 959-986. Doi: 10.1007/s00439-013-1317-0

Sherman, B. M., & Korenman, S. G. (1975). Hormonal characteristics of the human menst- rual cycle throughout reproductive life. The Journal of clinical investigation, 55(4), 699-706. Doi: 10.1172/JCI107979

Kent, R. D. (2022). The maturational gradient of infant vocalizations: developmental stages and functional modules. Infant Behavior and Development, 66, 101682. Doi: 10.1016/j.inf- beh.2021.101682

Chenausky, K. V., & Tager-Flusberg, H. (2022). The importance of deep speech phenoty- ping for neurodevelopmental and genetic disorders: a conceptual review. Journal of Neuro- developmental Disorders, 14(1), 1-14. Doi: 10.1186/s11689-022-09443-z

Luciano, M., Evans, D. M., Hansell, N. K., Medland, S. E., Montgomery, G. W., Martin, N. G., Wright, M. J., & Bates, T. C. (2013). A genome-wide association study for reading and language abilities in two population cohorts. Genes, brain, and behavior, 12(6), 645–652. Doi: 10.1111/gbb.12053

Eicher, J. D., Powers, N. R., Cho, K., Miller, L. L., Mueller, K. L., Ring, S. M., ... & Gruen, J. R. (2013). Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language. PloS one, 8(5), e63762. Doi: 10.1371/journal.pone.0063762

Peter, B., Wijsman, E. M., Nato Jr, A. Q., University of Washington Center for Mendelian Genomics, Matsushita, M. M., Chapman, K. L., ... & Raskind, W. H. (2016). Genetic candi- date variants in two multigenerational families with childhood apraxia of speech. PloS one, 11(4), e0153864. Doi: 10.1371/journal.pone.0153864

Thevenon, J., Callier, P., Andrieux, J., Delobel, B., David, A., Sukno, S., ... & Faivre, L. (2013). 12p13. 33 microdeletion including ELKS/ERC1, a new locus associated with chil- dhood apraxia of speech. European Journal of Human Genetics, 21(1), 82-88. Doi: 10.1038/ ejhg.2012.116

Frigerio‐Domingues, C., & Drayna, D. (2017). Genetic contributions to stuttering: the cur- rent evidence. Molecular genetics & genomic medicine, 5(2), 95-102. Doi: 10.1002/mgg3.276

Mez, J., Cosentino, S., Brickman, A. M., Huey, E. D., & Mayeux, R. (2013). Different demog- raphic, genetic, and longitudinal traits in language versus memory Alzheimer’s subgroups. Journal of Alzheimer’s Disease, 37(1), 137-146. Doi: 10.3233/JAD-130320

Premi, E., Pilotto, A., Alberici, A., Papetti, A., Archetti, S., Seripa, D., ... & Borroni, B. (2012). FOXP2, APOE, and PRNP: new modulators in primary progressive aphasia. Jour- nal of Alzheimer’s Disease, 28(4), 941-950. Doi: 10.3233/JAD-2011-111541

Veerappa, A. M., Saldanha, M., Padakannaya, P., & Ramachandra, N. B. (2014). Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics. American journal of medical genetics. Part B, Neuropsychiatric genetics : the offi- cial publication of the International Society of Psychiatric Genetics, 165B(7), 572–580. Doi: 10.1002/ajmg.b.32260

Worthey, E. A., Raca, G., Laffin, J. J., Wilk, B. M., Harris, J. M., Jakielski, K. J., Dimmock, D. P., Strand, E. A., & Shriberg, L. D. (2013). Whole-exome sequencing supports genetic hete- rogeneity in childhood apraxia of speech. Journal of neurodevelopmental disorders, 5(1), 29. Doi: 10.1186/1866-1955-5-29

Newbury, D. F., Winchester, L., Addis, L., Paracchini, S., Buckingham, L. L., Clark, A., Co- hen, W., Cowie, H., Dworzynski, K., Everitt, A., Goodyer, I. M., Hennessy, E., Kindley, A. D., Miller, L. L., Nasir, J., O’Hare, A., Shaw, D., Simkin, Z., Simonoff, E., Slonims, V., … Monaco, A. P. (2009). CMIP and ATP2C2 modulate phonological short-term memory in language impairment. American journal of human genetics, 85(2), 264–272. Doi: 10.1016/j. ajhg.2009.07.004

Eicher, J. D., & Gruen, J. R. (2015). Language impairment and dyslexia genes influence language skills in children with autism spectrum disorders. Autism Research, 8(2), 229-234. Doi: 10.1002/aur.1436

Anthoni, H., Zucchelli, M., Matsson, H., Müller-Myhsok, B., Fransson, I., Schumacher, J., Massinen, S., Onkamo, P., Warnke, A., Griesemann, H., Hoffmann, P., Nopola-Hemmi, J., Lyytinen, H., Schulte-Körne, G., Kere, J., Nöthen, M. M., & Peyrard-Janvid, M. (2007). A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia. Human molecular genetics, 16(6), 667–677. Doi: 10.1093/hmg/ddm009

Eising, E., Carrion-Castillo, A., Vino, A., Strand, E. A., Jakielski, K. J., Scerri, T. S., ... & Fisher, S. E. (2019). A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development. Molecular psychiatry, 24(7), 1065-1078. Doi: 10.1038/s41380-018-0020-x

Scerri, T. S., Paracchini, S., Morris, A., MacPhie, I. L., Talcott, J., Stein, J., ... & Monaco, A.

P. (2010). Identification of candidate genes for dyslexia susceptibility on chromosome 18.

PloS one, 5(10), e13712. Doi: 10.1371/journal.pone.0013712

Newbury, D. F., Winchester, L., Addis, L., Paracchini, S., Buckingham, L. L., Clark, A., ... & Monaco, A. P. (2009). CMIP and ATP2C2 modulate phonological short-term memory in language impairment. The American Journal of Human Genetics, 85(2), 264-272. Doi: 10.1016/j.ajhg.2009.07.004

Belloso, J. M., Bache, I., Guitart, M., Caballin, M. R., Halgren, C., Kirchhoff, M., ... & Tü- mer, Z. (2007). Disruption of the CNTNAP2 gene in at (7; 15) translocation family without symptoms of Gilles de la Tourette syndrome. European Journal of Human Genetics, 15(6), 711-713. Doi: 10.1038/sj.ejhg.5201824

Falsaperla, R., Pappalardo, X. G., Romano, C., Marino, S. D., Corsello, G., Ruggieri, M., Parano, E., & Pavone, P. (2020). Intronic Variant in CNTNAP2 Gene in a Boy With Remar- kable Conduct Disorder, Minor Facial Features, Mild Intellectual Disability, and Seizures. Frontiers in pediatrics, 8, 550. Doi: 10.3389/fped.2020.00550

Eicher, J. D., Powers, N. R., Miller, L. L., Akshoomoff, N., Amaral, D. G., Bloss, C. S., Libiger, O., Schork, N. J., Darst, B. F., Casey, B. J., Chang, L., Ernst, T., Frazier, J., Kaufmann, W. E., Keating, B., Kenet, T., Kennedy, D., Mostofsky, S., Murray, S. S., Sowell, E. R., … Pediatric

Imaging, Neurocognition, and Genetics Study (2013). Genome-wide association study of shared components of reading disability and language impairment. Genes, brain, and beha- vior, 12(8), 792–801. Doi: 10.1111/gbb.12085

Landi, N., Frost, S. J., Mencl, W. E., Preston, J. L., Jacobsen, L. K., Lee, M., Yrigollen, C., Pugh, K. R., & Grigorenko, E. L. (2013). The COMT Val/Met polymorphism is associated with reading-related skills and consistent patterns of functional neural activation. Develop- mental science, 16(1), 13–23. Doi: 10.1111/j.1467-7687.2012.01180.x.

Cheung, J., Petek, E., Nakabayashi, K., Tsui, L. C., Vincent, J. B., & Scherer, S. W. (2001). Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31. Genomics, 78(1-2), 7–11. Doi: 10.1006/geno.2001.6651.

Anthoni, H., Sucheston, L. E., Lewis, B. A., Tapia-Páez, I., Fan, X., Zucchelli, M., Taipale, M., Stein, C. M., Hokkanen, M. E., Castrén, E., Pennington, B. F., Smith, S. D., Olson, R. K., Tomblin, J. B., Schulte-Körne, G., Nöthen, M., Schumacher, J., Müller-Myhsok, B., Hoff- mann, P., Gilger, J. W., … Kere, J. (2012). The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language. Behavior genetics, 42(4), 509–527. Doi: 10.1007/s10519-012-9532-3.

Scerri, T. S., Morris, A. P., Buckingham, L. L., Newbury, D. F., Miller, L. L., Monaco, A. P., Bishop, D. V., & Paracchini, S. (2011). DCDC2, KIAA0319 and CMIP are associated with reading-related traits. Biological psychiatry, 70(3), 237–245. Doi: 10.1016/j.biopsy- ch.2011.02.005.

Scerri, T. S., Macpherson, E., Martinelli, A., Wa, W. C., Monaco, A. P., Stein, J., Zheng, M., Suk-Han Ho, C., McBride, C., Snowling, M., Hulme, C., Hayiou-Thomas, M. E., Waye, M., Talcott, J. B., & Paracchini, S. (2017). The DCDC2 deletion is not a risk factor for dyslexia. Translational psychiatry, 7(7), e1182. Doi: 10.1038/tp.2017.151.

Chen, Y., Zhao, H., Zhang, Y. X., & Zuo, P. X. (2017). DCDC2 gene polymorphisms are associated with developmental dyslexia in Chinese Uyghur children. Neural regeneration research, 12(2), 259–266. Doi: 10.4103/1673-5374.200809.

Taipale, M., Kaminen, N., Nopola-Hemmi, J., Haltia, T., Myllyluoma, B., Lyytinen, H., Mul- ler, K., Kaaranen, M., Lindsberg, P. J., Hannula-Jouppi, K., & Kere, J. (2003). A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain. Proceedings of the National Academy of Sciences of the Uni- ted States of America, 100(20), 11553–11558. Doi: 10.1073/pnas.1833911100.

Lim, C. K., Ho, C. S., Chou, C. H., & Waye, M. M. (2011). Association of the rs3743205 variant of DYX1C1 with dyslexia in Chinese children. Behavioral and brain functions: BBF, 7, 16. Doi: 10.1186/1744-9081-7-16.

Massinen, S., Tammimies, K., Tapia-Páez, I., Matsson, H., Hokkanen, M. E., Söderberg, O., Landegren, U., Castrén, E., Gustafsson, J. A., Treuter, E., & Kere, J. (2009). Functional inte- raction of DYX1C1 with estrogen receptors suggests involvement of hormonal pathways in dyslexia. Human molecular genetics, 18(15), 2802–2812. Doi: 10.1093/hmg/ddp215.

Fagerheim, T., Raeymaekers, P., Tønnessen, F. E., Pedersen, M., Tranebjaerg, L., & Lubs, H.

(1999). A new gene (DYX3) for dyslexia is located on chromosome 2. Journal of medical genetics, 36(9), 664–669.

Massinen, S., Wang, J., Laivuori, K., Bieder, A., Tapia Paez, I., Jiao, H., & Kere, J. (2016). Genomic sequencing of a dyslexia susceptibility haplotype encompassing ROBO1. Journal of neurodevelopmental disorders, 8, 4. Doi: 10.1186/s11689-016-9136-y

Mandahl, N., Magnusson, L., Nilsson, J., Viklund, B., Arbajian, E., von Steyern, F. V., Isak- sson, A., & Mertens, F. (2017). Scattered genomic amplification in dedifferentiated liposar- coma. Molecular cytogenetics, 10, 25. Doi: 10.1186/s13039-017-0325-5.

Fisher, S. E., Francks, C., Marlow, A. J., MacPhie, I. L., Newbury, D. F., Cardon, L. R., Ishi- kawa-Brush, Y., Richardson, A. J., Talcott, J. B., Gayán, J., Olson, R. K., Pennington, B. F., Smith, S. D., DeFries, J. C., Stein, J. F., & Monaco, A. P. (2002). Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nature gene- tics, 30(1), 86–91. Doi: doi.org/10.1038/ng792

de Kovel, C. G., Hol, F. A., Heister, J. G., Willemen, J. J., Sandkuijl, L. A., Franke, B., & Pad- berg, G. W. (2004). Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family. Journal of medical genetics, 41(9), 652–657. Doi: 10.1136/ jmg.2003.012294.

Panjwani, N., Wilson, M. D., Addis, L., Crosbie, J., Wirrell, E., Auvin, S., Caraballo, R. H., Kinali, M., McCormick, D., Oren, C., Taylor, J., Trounce, J., Clarke, T., Akman, C. I., Kugler,

S. L., Mandelbaum, D. E., McGoldrick, P., Wolf, S. M., Arnold, P., Schachar, R., Strug, L.

J. (2016). A microRNA-328 binding site in PAX6 is associated with centrotemporal spi- kes of rolandic epilepsy. Annals of clinical and translational neurology, 3(7), 512–522. Doi: 10.1002/acn3.320.

Benayed, R., Gharani, N., Rossman, I., Mancuso, V., Lazar, G., Kamdar, S., Bruse, S. E., Tischfield, S., Smith, B. J., Zimmerman, R. A., Dicicco-Bloom, E., Brzustowicz, L. M., & Millonig, J. H. (2005). Support for the homeobox transcription factor gene ENGRAILED 2 as an autism spectrum disorder susceptibility locus. American journal of human genetics, 77(5), 851–868. Doi: 10.1086/497705.

Bacon, C., & Rappold, G. A. (2012). The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders. Human genetics, 131(11), 1687–1698. Doi: 10.1007/s00439-012-1193-z.

Hamdan, F. F., Daoud, H., Rochefort, D., Piton, A., Gauthier, J., Langlois, M., Foomani, G., Dobrzeniecka, S., Krebs, M. O., Joober, R., Lafrenière, R. G., Lacaille, J. C., Mottron, L., Drapeau, P., Beauchamp, M. H., Phillips, M. S., Fombonne, E., Rouleau, G. A., & Michaud,

J. L. (2010). De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment. American journal of human genetics, 87(5), 671–678. Doi: 10.1016/j. ajhg.2010.09.017.

Le Fevre, A. K., Taylor, S., Malek, N. H., Horn, D., Carr, C. W., Abdul-Rahman, O. A., O’Donnell, S., Burgess, T., Shaw, M., Gecz, J., Bain, N., Fagan, K., & Hunter, M. F. (2013). FOXP1 mutations cause intellectual disability and a recognizable phenotype. American journal of medical genetics. Part A, 161A(12), 3166–3175. Doi: 10.1002/ajmg.a.36174.

Chien, W. H., Gau, S. S., Chen, C. H., Tsai, W. C., Wu, Y. Y., Chen, P. H., Shang, C. Y., & Chen, C. H. (2013). Increased gene expression of FOXP1 in patients with autism spectrum disorders. Molecular autism, 4(1), 23. Doi: 10.1186/2040-2392-4-23.

Reuter, M. S., Riess, A., Moog, U., Briggs, T. A., Chandler, K. E., Rauch, A., Stampfer, M., Steindl, K., Gläser, D., Joset, P., DDD Study, Krumbiegel, M., Rabe, H., Schulte-Mattler, U., Bauer, P., Beck-Wödl, S., Kohlhase, J., Reis, A., & Zweier, C. (2017). FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutatio- nal and clinical spectrum. Journal of medical genetics, 54(1), 64–72. Doi: 10.1136/jmedge- net-2016-104094.

Oswald, F., Klöble, P., Ruland, A., Rosenkranz, D., Hinz, B., Butter, F., Ramljak, S., Ze- chner, U., & Herlyn, H. (2017). The FOXP2-Driven Network in Developmental Disor- ders and Neurodegeneration. Frontiers in cellular neuroscience, 11, 212. Doi: 10.3389/fn- cel.2017.00212.

Becker, M., Devanna, P., Fisher, S. E., & Vernes, S. C. (2018). Mapping of Human FOXP2 Enhancers Reveals Complex Regulation. Frontiers in molecular neuroscience, 11, 47. Doi: 10.3389/fnmol.2018.00047.

Liégeois, F. J., Hildebrand, M. S., Bonthrone, A., Turner, S. J., Scheffer, I. E., Bahlo, M., Connelly, A., & Morgan, A. T. (2016). Early neuroimaging markers of FOXP2 intragenic deletion. Scientific reports, 6, 35192. Doi: 10.1038/srep35192.

Morgan, A., Fisher, S. E., Scheffer, I., & Hildebrand, M. (2016). FOXP2-Related Speech and Language Disorders. In M. P. Adam (Eds.) et. al., GeneReviews®. University of Washington, Seattle.

Pinel, P., Fauchereau, F., Moreno, A., Barbot, A., Lathrop, M., Zelenika, D., Le Bihan, D., Po- line, J. B., Bourgeron, T., & Dehaene, S. (2012). Genetic variants of FOXP2 and KIAA0319/ TTRAP/THEM2 locus are associated with altered brain activation in distinct language-re- lated regions. The Journal of neuroscience : the official journal of the Society for Neuroscience, 32(3), 817–825. Doi: 10.1523/JNEUROSCI.5996-10.2012.

Roll, P., Vernes, S. C., Bruneau, N., Cillario, J., Ponsole-Lenfant, M., Massacrier, A., Rudolf, G., Khalife, M., Hirsch, E., Fisher, S. E., & Szepetowski, P. (2010). Molecular networks imp- licated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex. Human molecular genetics, 19(24), 4848–4860. Doi: 10.1093/hmg/ddq415.

Newbury, D. F., Bonora, E., Lamb, J. A., Fisher, S. E., Lai, C. S., Baird, G., Jannoun, L., Slonims, V., Stott, C. M., Merricks, M. J., Bolton, P. F., Bailey, A. J., Monaco, A. P., & Inter- national Molecular Genetic Study of Autism Consortium (2002). FOXP2 is not a major susceptibility gene for autism or specific language impairment. American journal of human genetics, 70(5), 1318–1327. Doi: 10.1086/339931.

Clovis, Y. M., Enard, W., Marinaro, F., Huttner, W. B., & De Pietri Tonelli, D. (2012). Con- vergent repression of Foxp2 3’UTR by miR-9 and miR-132 in embryonic mouse neocortex: implications for radial migration of neurons. Development (Cambridge, England), 139(18), 3332–3342. Doi: 10.1242/dev.078063.

Deters, K. D., Nho, K., Risacher, S. L., Kim, S., Ramanan, V. K., Crane, P. K., Apostolova,

L. G., Saykin, A. J., & Alzheimer’s Disease Neuroimaging Initiative (2017). Genome-wide association study of language performance in Alzheimer’s disease. Brain and language, 172, 22–29. Doi: 10.1016/j.bandl.2017.04.008.

Kazemi, N., Estiar, M. A., Fazilaty, H., & Sakhinia, E. (2018). Variants in GNPTAB, GNP- TG and NAGPA genes are associated with stutterers. Gene, 647, 93–100. Doi: 10.1016/j. gene.2017.12.054.

Rogalski, E., Weintraub, S., & Mesulam, M. M. (2013). Are there susceptibility factors for primary progressive aphasia?. Brain and language, 127(2), 135–138. Doi: 10.1016/j. bandl.2013.02.004.

Comings, D. E., Wu, S., Chiu, C., Muhleman, D., & Sverd, J. (1996). Studies of the c-Har- vey-Ras gene in psychiatric disorders. Psychiatry research, 63(1), 25-32. Doi: 10.1016/0165- 1781(96)02829-6.

Harold, D., Paracchini, S., Scerri, T., Dennis, M., Cope, N., Hill, G., Moskvina, V., Walter, J., Richardson, A. J., Owen, M. J., Stein, J. F., Green, E. D., O’Donovan, M. C., Williams, J., & Monaco, A. P. (2006). Further evidence that the KIAA0319 gene confers suscepti- bility to developmental dyslexia. Molecular psychiatry, 11(12), 1085–1061. Doi: 10.1038/ sj.mp.4001904.

Shi, Z., Luo, G., Fu, L., Fang, Z., Wang, X., & Li, X. (2013). miR-9 and miR-140-5p target FoxP2 and are regulated as a function of the social context of singing behavior in zebra fin- ches. The Journal of neuroscience : the official journal of the Society for Neuroscience, 33(42), 16510–16521. Doi: 10.1523/JNEUROSCI.0838-13.2013.

Jiménez-Romero, S., Carrasco-Salas, P., & Benítez-Burraco, A. (2018). Language and Cog- nitive Impairment Associated with a Novel p.Cys63Arg Change in the MED13L Transcrip- tional Regulator. Molecular syndromology, 9(2), 83–91. Doi: 10.1159/000485638.

Judson, M. C., Amaral, D. G., & Levitt, P. (2011). Conserved subcortical and divergent cortical expression of proteins encoded by orthologs of the autism risk gene MET. Cerebral cortex (New York, N.Y. : 1991), 21(7), 1613–1626. Doi: 10.1093/cercor/bhq223.

Sousa, I., Clark, T. G., Toma, C., Kobayashi, K., Choma, M., Holt, R., Sykes, N. H., Lamb, J. A., Bailey, A. J., Battaglia, A., Maestrini, E., Monaco, A. P., & International Molecular Genetic Study of Autism Consortium (IMGSAC) (2009). MET and autism susceptibility: family and case-control studies. European journal of human genetics : EJHG, 17(6), 749–758. Doi: 10.1038/ejhg.2008.215.

Castermans, D., Wilquet, V., Parthoens, E., Huysmans, C., Steyaert, J., Swinnen, L., Fryns, J. P., Van de Ven, W., & Devriendt, K. (2003). The neurobeachin gene is disrupted by a trans- location in a patient with idiopathic autism. Journal of medical genetics, 40(5), 352–356. Doi: 10.1136/jmg.40.5.352.

Villanueva, P., Nudel, R., Hoischen, A., Fernández, M. A., Simpson, N. H., Gilissen, C., Rea- der, R. H., Jara, L., Echeverry, M. M., Francks, C., Baird, G., Conti-Ramsden, G., O’Hare, A., Bolton, P. F., Hennessy, E. R., SLI Consortium, Palomino, H., Carvajal-Carmona, L., Velt- man, J. A., Cazier, J. B., … Newbury, D. F. (2015). Exome sequencing in an admixed isolated population indicates NFXL1 variants confer a risk for specific language impairment. PLoS genetics, 11(3), e1004925. Doi: 10.1371/journal.pgen.1004925.

Nudel, R., Simpson, N. H., Baird, G., O’Hare, A., Conti-Ramsden, G., Bolton, P. F., Hennes- sy, E. R., SLI Consortium, Ring, S. M., Davey Smith, G., Francks, C., Paracchini, S., Monaco,

P., Fisher, S. E., & Newbury, D. F. (2014). Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment. Genes, brain, and behavior, 13(4), 418–429. Doi: 10.1111/gbb.12127.

Veerappa, A. M., Saldanha, M., Padakannaya, P., & Ramachandra, N. B. (2014). Family based genome-wide copy number scan identifies complex rearrangements at 17q21.31 in dyslexics. American journal of medical genetics. Part B, Neuropsychiatric genetics : the offi- cial publication of the International Society of Psychiatric Genetics, 165B(7), 572–580. Doi: 10.1002/ajmg.b.32260.

Naqvi, S., Cole, T., Graham, JM. (2000) Cole-Hughes macrocephaly syndrome and asso- ciated autistic manifestations. AM J Med Genet. Doi: 10.1002/1096-8628(20000911)94: 2<149::aid-ajmg7>3.0.co;2-#

Hannula-Jouppi, K., Kaminen-Ahola, N., Taipale, M., Eklund, R., Nopola-Hemmi, J., Kää- riäinen, H., & Kere, J. (2005). The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia. PLoS genetics, 1(4), e50. Doi: 10.1371/journal.pgen.0010050.

St Pourcain, B., Cents, R. A., Whitehouse, A. J., Haworth, C. M., Davis, O. S., O’Reilly, P. F., Roulstone, S., Wren, Y., Ang, Q. W., Velders, F. P., Evans, D. M., Kemp, J. P., Warrington,

N. M., Miller, L., Timpson, N. J., Ring, S. M., Verhulst, F. C., Hofman, A., Rivadeneira, F., Meaburn, E. L., Davey Smith, G. (2014). Common variation near ROBO2 is associa- ted with expressive vocabulary in infancy. Nature communications, 5, 4831. Doi: 10.1038/ ncomms5831.

Kalnak, N., Stamouli, S., Peyrard-Janvid, M., Rabkina, I., Becker, M., Klingberg, T., Kere, J., Forssberg, H., & Tammimies, K. (2018). Enrichment of rare copy number variation in children with developmental language disorder. Clinical genetics, 94(3-4), 313–320. Doi: 10.1111/cge.13389.

Sia, G. M., Clem, R. L., & Huganir, R. L. (2013). The human language-associated gene SRPX2 regulates synapse formation and vocalization in mice. Science (New York, N.Y.), 342(6161), 987–991. Doi: 10.1126/science.1245079.

Soteros, B. M., Cong, Q., Palmer, C. R., & Sia, G. M. (2018). Sociability and synapse subt- ype-specific defects in mice lacking SRPX2, a language-associated gene. PloS one, 13(6), e0199399. Doi: 10.1371/journal.pone.0199399.

Anthoni, H., Sucheston, L. E., Lewis, B. A., Tapia-Páez, I., Fan, X., Zucchelli, M., Taipale, M., Stein, C. M., Hokkanen, M. E., Castrén, E., Pennington, B. F., Smith, S. D., Olson, R. K., Tomblin, J. B., Schulte-Körne, G., Nöthen, M., Schumacher, J., Müller-Myhsok, B., Hoff- mann, P., Gilger, J. W., … Kere, J. (2012). The aromatase gene CYP19A1: several genetic and functional lines of evidence supporting a role in reading, speech and language. Behavior genetics, 42(4), 509–527. Doi: 10.1007/s10519-012-9532-3.