References
Abuelo, D. (2007). Microcephaly syndromes. Seminars in Pediatric
Neurology 14(3):118-127. https://doi.org/10.1016/j.spen.2007.07.003
Aftab, S., Semenec, L., Chu, J. S., & Chen, N. (2008). Identification
and characterization of novel human tissue-specific RFX transcription
factors. BMC Evolutionary Biology 8:226.
https://doi.org/10.1186/1471-2148-8-226
Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert,
A. M., … FitzPatrick, D. R. (2014). Genetic heterogeneity in Cornelia
de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and
predicted levels of mosaicism. Journal of Medical Genetics51(10):659-668. https://doi.org/10.1136/jmedgenet-2014-102573
Arya, R., Spaeth, C., Gilbert, D. L., Leach, J. L., & Holland, K. D.
(2017). GNAO1-associated epileptic encephalopathy and movement
disorders: c.607G>A variant represents a probable mutation
hotspot with a distinct phenotype. Epileptic Disorders19(1):67-75. https://doi.org/10.1684/epd.2017.0888
Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L. M., Rosenfeld, J. A.,
Talkowski, M. E., … Sistermans, E. A. (2013). Exonic deletions in
AUTS2 cause a syndromic form of intellectual disability and suggest a
critical role for the C terminus. American Journal of Human
Genetics 92(2):210-220. https://doi.org/10.1016/j.ajhg.2012.12.011
Bonnet, C., Ali Khan, A., Bresso, E., Vigouroux, C., Beri, M., Lejczak,
S., … Jonveaux, P. (2013). Extended spectrum of MBD5 mutations in
neurodevelopmental disorders. European Journal of Human Genetics21(12):1457-1461. https://doi.org/10.1038/ejhg.2013.22
Boonsawat, P., Joset, P., Steindl, K., Oneda, B., Gogoll, L.,
Azzarello-Burri, S., … Rauch, A. (2019). Elucidation of the phenotypic
spectrum and genetic landscape in primary and secondary microcephaly.Genetics in Medicine 21(9):2043-2058.
https://doi.org/10.1038/s41436-019-0464-7
Cristofoli, F., Devriendt, K., Davis, E. E., Van Esch, H., & Vermeesch,
J. R. (2018). Novel CASK mutations in cases with syndromic microcephaly.Human Mutation 39(7):993-1001. https://doi.org/10.1002/humu.23536
Darvish, H., Esmaeeli-Nieh, S., Monajemi, G. B., Mohseni, M.,
Ghasemi-Firouzabadi, S., Abedini, S. S., … Najmabadi, H. (2010). A
clinical and molecular genetic study of 112 Iranian families with
primary microcephaly. Journal of Medical Genetics 47(12):823-828.
https://doi.org/10.1136/jmg.2009.076398
Farwell, K. D., Shahmirzadi, L., El-Khechen, D., Powis, Z., Chao, E. C.,
Tippin Davis, B., … Tang, S. (2015). Enhanced utility of
family-centered diagnostic exome sequencing with inheritance model-based
analysis: results from 500 unselected families with undiagnosed genetic
conditions. Genetics in Medicine 17(7):578-586.
https://doi.org/10.1038/gim.2014.154
Fujimori, S., Kamatani, N., Nishida, Y., Ogasawara, N., & Akaoka, I.
(1990). Hypoxanthine guanine phosphoribosyltransferase deficiency:
nucleotide substitution causing Lesch-Nyhan syndrome identified for the
first time among Japanese. Human Genetics 84(5):483-486.
https://doi.org/10.1007/bf00195826
Gibbs, R. A., & Caskey, C. T. (1987). Identification and localization
of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage.Science 236(4799):303-305.
https://doi.org/10.1126/science.3563511
Gilmore, E. C., & Walsh, C. A. (2013). Genetic causes of microcephaly
and lessons for neuronal development. Wiley Interdiscip Rev Dev
Biol 2(4):461-478. https://doi.org/10.1002/wdev.89
Hamdan, F. F., Srour, M., Capo-Chichi, J. M., Daoud, H., Nassif, C.,
Patry, L., … Michaud, J. L. (2014). De novo mutations in moderate or
severe intellectual disability. Plos Genetics 10(10):e1004772.
https://doi.org/10.1371/journal.pgen.1004772
Hayashi, S., Okamoto, N., Chinen, Y., Takanashi, J., Makita, Y., Hata,
A., … Inazawa, J. (2012). Novel intragenic duplications and mutations
of CASK in patients with mental retardation and microcephaly with
pontine and cerebellar hypoplasia (MICPCH). Human Genetics131(1):99-110. https://doi.org/10.1007/s00439-011-1047-0
Hayashi, S., Uehara, D. T., Tanimoto, K., Mizuno, S., Chinen, Y.,
Fukumura, S., … Inazawa, J. (2017). Comprehensive investigation of
CASK mutations and other genetic etiologies in 41 patients with
intellectual disability and microcephaly with pontine and cerebellar
hypoplasia (MICPCH). PloS One 12(8):e0181791.
https://doi.org/10.1371/journal.pone.0181791
Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A.,
… Reis, A. (2012). Haploinsufficiency of ARID1B, a member of the
SWI/SNF-a chromatin-remodeling complex, is a frequent cause of
intellectual disability. American Journal of Human Genetics90(3):565-572. https://doi.org/10.1016/j.ajhg.2012.02.007
Jang, W., Kim, Y., Han, E., Park, J., Chae, H., Kwon, A., … Park, J.
H. (2019). Chromosomal Microarray Analysis as a First-Tier Clinical
Diagnostic Test in Patients With Developmental Delay/Intellectual
Disability, Autism Spectrum Disorders, and Multiple Congenital
Anomalies: A Prospective Multicenter Study in Korea. Annals of
Laboratory Medicine 39(3):299-310.
https://doi.org/10.3343/alm.2019.39.3.299
Jayaraman, D., Bae, B. I., & Walsh, C. A. (2018). The Genetics of
Primary Microcephaly. Annual Review of Genomics and Human
Genetics 19:177-200.
https://doi.org/10.1146/annurev-genom-083117-021441
Jiao, Q., Sun, H., Zhang, H., Wang, R., Li, S., Sun, D., … Jin, Y.
(2019). The combination of whole-exome sequencing and copy number
variation sequencing enables the diagnosis of rare neurological
disorders. Clinical Genetics 96(2):140-150.
https://doi.org/10.1111/cge.13548
Mahajani, S., Giacomini, C., Marinaro, F., De Pietri Tonelli, D.,
Contestabile, A., & Gasparini, L. (2017). Lamin B1 levels modulate
differentiation into neurons during embryonic corticogenesis.Scientific Reports 7(1):4897.
https://doi.org/10.1038/s41598-017-05078-6
Manojlovic, Z., Earwood, R., Kato, A., Stefanovic, B., & Kato, Y.
(2014). RFX7 is required for the formation of cilia in the neural tube.Mechanisms of Development 132:28-37.
https://doi.org/10.1016/j.mod.2014.02.001
Marques Matos, C., Alonso, I., & Leao, M. (2019). Diagnostic yield of
next-generation sequencing applied to neurological disorders.Journal of Clinical Neuroscience 67:14-18.
https://doi.org/10.1016/j.jocn.2019.06.041
Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S.,
Chen, W., … Ropers, H. H. (2011). Deep sequencing reveals 50 novel
genes for recessive cognitive disorders. Nature 478(7367):57-63.
https://doi.org/10.1038/nature10423
Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B.,
Bialer, M., … Goldstein, D. B. (2016). Germline De Novo Mutations in
GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and
Seizures. American Journal of Human Genetics 98(5):1001-1010.
https://doi.org/10.1016/j.ajhg.2016.03.011
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J.,
… Committee, A. L. Q. A. (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 Medicine17(5):405-424. https://doi.org/10.1038/gim.2015.30
Rump, P., Jazayeri, O., van Dijk-Bos, K. K., Johansson, L. F., van
Essen, A. J., Verheij, J. B., … Sikkema-Raddatz, B. (2016).
Whole-exome sequencing is a powerful approach for establishing the
etiological diagnosis in patients with intellectual disability and
microcephaly. BMC Medical Genomics 9:7.
https://doi.org/10.1186/s12920-016-0167-8
Sajid Hussain, M., Marriam Bakhtiar, S., Farooq, M., Anjum, I., Janzen,
E., Reza Toliat, M., … Hansen, L. (2013). Genetic heterogeneity in
Pakistani microcephaly families. Clinical Genetics 83(5):446-451.
https://doi.org/10.1111/j.1399-0004.2012.01932.x
Shaheen, R., Maddirevula, S., Ewida, N., Alsahli, S., Abdel-Salam, G. M.
H., Zaki, M. S., … Alkuraya, F. S. (2019). Genomic and phenotypic
delineation of congenital microcephaly. Genetics in Medicine21(3):545-552. https://doi.org/10.1038/s41436-018-0140-3
Shinawi, M., Liu, P., Kang, S. H., Shen, J., Belmont, J. W., Scott, D.
A., … Lupski, J. R. (2010). Recurrent reciprocal 16p11.2
rearrangements associated with global developmental delay, behavioural
problems, dysmorphism, epilepsy, and abnormal head size. Journal
of Medical Genetics 47(5):332-341.
https://doi.org/10.1136/jmg.2009.073015
Shoukier, M., Klein, N., Auber, B., Wickert, J., Schroder, J., Zoll, B.,
… Zirn, B. (2013). Array CGH in patients with developmental delay or
intellectual disability: are there phenotypic clues to pathogenic copy
number variants? Clinical Genetics 83(1):53-65.
https://doi.org/10.1111/j.1399-0004.2012.01850.x
Stewart, D. R., & Kleefstra, T. (2007). The chromosome 9q subtelomere
deletion syndrome. American Journal of Medical Genetics. Part C:
Seminars in Medical Genetics 145C(4):383-392.
https://doi.org/10.1002/ajmg.c.30148
Takeuchi, T., Yamazaki, Y., Katoh-Fukui, Y., Tsuchiya, R., Kondo, S.,
Motoyama, J., & Higashinakagawa, T. (1995). Gene trap capture of a
novel mouse gene, jumonji, required for neural tube formation.Genes and Development 9(10):1211-1222.
https://doi.org/10.1101/gad.9.10.1211
Thevenon, J., Duffourd, Y., Masurel-Paulet, A., Lefebvre, M., Feillet,
F., El Chehadeh-Djebbar, S., … Riviere, J. B. (2016). Diagnostic
odyssey in severe neurodevelopmental disorders: toward clinical
whole-exome sequencing as a first-line diagnostic test. Clinical
Genetics 89(6):700-707. https://doi.org/10.1111/cge.12732
Tsoutsou, E., Tzetis, M., Giannikou, K., Braoudaki, M., Mitrakos, A.,
Amenta, S., … Fryssira, H. (2017). Application of high-resolution
array comparative genomic hybridization in children with unknown
syndromic microcephaly. Pediatric Research 82(2):253-260.
https://doi.org/10.1038/pr.2017.65
Vargas, J. E., Allred, E. N., Leviton, A., & Holmes, L. B. (2001).
Congenital microcephaly: phenotypic features in a consecutive sample of
newborn infants. Journal of Pediatrics 139(2):210-214.
https://doi.org/10.1067/mpd.2001.115314
Vissers, L., van Nimwegen, K. J. M., Schieving, J. H., Kamsteeg, E. J.,
Kleefstra, T., Yntema, H. G., … Willemsen, M. (2017). A clinical
utility study of exome sequencing versus conventional genetic testing in
pediatric neurology. Genetics in Medicine 19(9):1055-1063.
https://doi.org/10.1038/gim.2017.1
von der Hagen, M., Pivarcsi, M., Liebe, J., von Bernuth, H., Didonato,
N., Hennermann, J. B., … Kaindl, A. M. (2014). Diagnostic approach to
microcephaly in childhood: a two-center study and review of the
literature. Developmental Medicine and Child Neurology56(8):732-741. https://doi.org/10.1111/dmcn.12425
Wang, J., Ai, X., Gale, R. P., Xu, Z., Qin, T., Fang, L., … Xiao, Z.
(2013). TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic
syndromes. Leukemia Research 37(3):305-311.
https://doi.org/10.1016/j.leukres.2012.10.004
Woods, C. G., & Parker, A. (2013). Investigating microcephaly.Archives of Disease in Childhood 98(9):707-713.
https://doi.org/10.1136/archdischild-2012-302882