Bibliography
1. Ashurst J, Wasson M. Developmental and persistent developmental
stuttering: An overview for primary care physicians. J Am Osteopath
Assoc. 2011;111(10):576–80.
2. Drayna D, Kilshaw J, Kelly J. The sex ratio in familial persistent
stuttering. Am J Hum Genet. 1999 Nov;65(5):1473–5.
3. Yairi E, Ambrose NG. Early childhood stuttering I: persistency and
recovery rates. J Speech Lang Hear Res. 1999 Oct;42(5):1097–112.
4. Yairi E, Ambrose N. Early childhood stuttering. Austin, TX: Pro-Ed.
Inc; 2005.
5. Yairi E, Ambrose N. Epidemiology of stuttering: 21st century
advances. Journal of fluency disorders. 2013 Jun 1;38(2):66-87.
6. Nandhini Devi G, Thalamuthu A, Valarmathi S, Karthikeyen NP,
Srikumari Srisailapathy CR. Genetic epidemiology of stuttering among
school children in the state of Tamil Nadu, India. J Fluency Disord.
2018;58.
7. Cykowski, M. D., Kochunov, P. V., Ingham, R. J., Ingham, J. C.,
Mangin, J. F., Riviere, D., Lancaster, J. L. &Fox PT. Perisylvian
sulcal morphology and cerebral asymmetry patterns in adults who stutter.
Cereb Cortex. 2008;18(3):571–83.
8. Chang S-E. Research Updates in Neuroimaging Studies of Children Who
Stutter. Semin Speech Lang,. 2014;35(2):67–79.
9. Chang, S. E., Zhu, D. C., Choo, A. L., & Angstadt M. White matter
neuroanatomical differences in young children who stutter. Brain.
2015;138(3):694–711.
10. Ingham RJ. Brain imaging studies of developmental stuttering. J
Commun Disord. 2001;34(6):493–516.
11. Oliveira, B. V. D., Domingues, C. E. F., Juste, F. S., Andrade, C.
R. F. D., & Moretti-Ferreira D. Familial persistent developmental
stuttering: genetic perspectives. Rev da Soc Bras Fonoaudiol.
2012;17(4):489–94.
12. Shugart YY, Mundorff J, Kilshaw J, Doheny K, Doan B, Wanyee J, et
al. Results of a genome-wide linkage scan for stuttering. Am J Med Genet
[Internet]. 2004 Jan 15;124A(2):133–5. Available from:
http://doi.wiley.com/10.1002/ajmg.a.20347
13. Suresh R, Ambrose N, Roe C, Pluzhnikov A, Wittke-Thompson JK, Ng
MC-Y, et al. New Complexities in the Genetics of Stuttering: Significant
Sex-Specific Linkage Signals. Am J Hum Genet. 2006;78(4):554–63.
14. Wittke-Thompson, J. K., Ambrose, N., Yairi, E., Roe, C., Cook, E.
H., Ober, C., & Cox NJ. Genetic studies of stuttering in a founder
population. J Fluen Disord. 2007;32(1):33-50.
15. Raza MH, Riazuddin S, Drayna D. Identification of an autosomal
recessive stuttering locus on chromosome 3q13.2–3q13.33. Hum Genet.
2010 Oct 13;128(4):461–3.
16. Riaz N, Steinberg S, Ahmad J, Pluzhnikov A, Riazuddin S, Cox NJ, et
al. Genomewide significant linkage to stuttering on chromosome 12. Am J
Hum Genet. 2005;76(4):647–51.
17. Raza MH, Amjad R, Riazuddin S, Drayna D. Studies in a consanguineous
family reveal a novel locus for stuttering on chromosome 16q. Hum Genet.
2012 Feb;131(2):311–3.
18. Raza MH, Gertz EM, Mundorff J, Lukong J, Kuster J, Schäffer AA, et
al. Linkage analysis of a large African family segregating stuttering
suggests polygenic inheritance. Hum Genet. 2013;132(4):385–96.
19. Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin
JC, et al. Mutations in the lysosomal enzyme-targeting pathway and
persistent stuttering. N Engl J Med. 2010 Feb 25;362(8):677–85.
20. Raza MH, Mattera R, Morell R, Sainz E, Rahn R, Gutierrez J, et al.
Association between Rare Variants in AP4E1, a Component of Intracellular
Trafficking, and Persistent Stuttering. Am J Hum Genet. 2015 Nov
5;97(5):715–25.
21. Raza MH, Domingues CEF, Webster R, Sainz E, Paris E, Rahn R, et al.
Mucolipidosis types II and III and non-syndromic stuttering are
associated with different variants in the same genes. Eur J Hum Genet.
2016;
22. Frigerio-Domingues C, Drayna D. Genetic contributions to stuttering:
the current evidence. Mol Genet Genomic Med. 2017 Mar;5(2):95–102.
23. Kraft SJ. Genome-wide association study of persistent developmental
stuttering. University of Illinois; 2010.
24. Barnes, T. D., Wozniak, D. F., Gutierrez, J., Han, T. U., Drayna,
D., & Holy TE. A mutation associated with stuttering alters mouse pup
ultrasonic vocalizations. Curr Biol. 2016;26(8):1009–18.
25. Han, T. U., Root, J., Reyes, L. D., Huchinson, E. B., du Hoffmann,
J., Lee, W. S., … & Drayna D. Human GNPTAB stuttering mutations
engineered into mice cause vocalization deficits and astrocyte pathology
in the corpus callosum. Proc Natl Acad Sci. 2019;116(35):17515–24.
26. Büchel C, Watkins KE. Genetic susceptibility to persistent
stuttering. The New England journal of medicine. 2010 Jun 5;362(23).
27. Fedyna A, Drayna D, Kang C. Characterization of a mutation commonly
associated with persistent stuttering: Evidence for a founder mutation.
J Hum Genet. 2011;56(1):80–2.
28. Kazemi, N., Estiar, M. A., Fazilaty, H., & Sakhinia E. Variants in
GNPTAB, GNPTG and NAGPA genes are associated with stutterers. Gene.
2018;647:93–100.
29. Miko I. Genetic dominance: genotype-phenotype relationships. Nat
Educ. 2008;1(1):140.
30. Veltman, J. A., & Brunner HG. De novo mutations in human genetic
disease. Nat Rev Genet. 2012;13(8):565.
31. Sheth, J. J., Mistri, M., Kamate, M., Vaja, S., & Sheth FJ.
Diagnostic strategy for mucolipidosis II/III. Ind Pediatr.
2012;49((12)):975–7.
32. Sauna, Z. E., & Kimchi-Sarfaty C. Understanding the contribution of
synonymous mutations to human disease. Nat Rev Genet. 2011;12(10):683.
33. Liu, M., Watson, L. T., & Zhang L. Predicting the combined effect
of multiple genetic variants. Hum Genomics. 2015;9(1):18.
34. Riley GD. Stuttering Severity Instrument-3 (SSI-3). 1994;Austin, TX.
35. Sambrook, J.F. and Russell D. Molecular Cloning: A Laboratory
Manual. 3rd ed., V. Press CSHL, editor. 2001.