Zhao ZS, Manser E. PAK and other Rho-associated kinases—effectors with surprisingly diverse mechanisms of regulation. Biochem J. 2005;386(Pt 2):201–14.
Eswaran J, Soundararajan M, Kumar R, Knapp S. UnPAKing the class differences among p21-activated kinases. Trends Biochem Sci. 2008;33(8):394–403.
Kumar R, Sanawar R, Li X, Li F. Structure, biochemistry, and biology of PAK kinases. Gene. 2017;605:20–31.
Allen KM, Gleeson JG, Bagrodia S, et al. PAK3 mutation in nonsyndromic X-linked mental retardation. Nat Genet. 1998;20(1):25–30.
Rane CK, Minden A. P21 activated kinase signaling in cancer. Semin Cancer Biol. 2019;54:40–9.
Harms FL, Kloth K, Bley A, et al. Activating mutations in PAK1, encoding p21-activated kinase 1, cause a neurodevelopmental disorder. Am J Hum Genet. 2018;103(4):579–91.
van Bever Y, Rooms L, Laridon A, et al. Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype. Am J Med Genet A. 2005;135(1):91–5.
Ioan DM, Maximilian C, Kleczkowska A, Fryns JP. Distal deletion of the long arm of chromosome number 1 (q43–>qter) associated with severe mental retardation and a nonspecific dysmorphic syndrome. Ann Genet. 1992;35(3):167–9.
Merritt JL 2nd, Zou Y, Jalal SM, Michels VV. Delineation of the cryptic 1qter deletion phenotype. Am J Med Genet A. 2007;143A(6):599–603.
Nagamani SC, Erez A, Bay C, et al. Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44. Eur J Hum Genet. 2012;20(2):176–9.
Ballif BC, Rosenfeld JA, Traylor R, et al. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet. 2012;131(1):145–56.
Thierry G, Bénéteau C, Pichon O, et al. Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A. 2012;158A(7):1633–40.
Zhuang J, Wang Y, Zeng S, Lv C, Lin Y, Jiang Y. A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication. Mol Cytogenet. 2019;12:50.
Zhuang J, Zhang N, Fu W, et al. Cytogenetic and molecular analysis of distal 4q duplication with distinctive phenotype using single-nucleotide polymorphism array. Mol Cytogenet. 2021;14(1):46.
Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen) [published correction appears in Genet Med. 2021 Nov;23(11):2230]. Genet Med. 2020;22(2):245–57.
Zhuang J, Chen C, Chen Y, et al. Identification of a rare variant of c.1777G>A (p.G593S) in the COL1A1 gene as the etiology of recurrent osteogenesis imperfecta by whole-exome sequencing. Front Pediatr. 2022;10:816090.
Richards S, Aziz N, Bale S, 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. 2015;17(5):405–24.
Cho JH, Song ES, Kim HN, Oh BS, Choi YY. A chromosome 1q44 deletion in a 4-month-old girl; the first report in Korea. Korean J Pediatr. 2014;57(6):292–6.
Westphal DS, Andres S, Beitzel KI, Makowski C, Meitinger T, Hoefele J. Identification of a de novo microdeletion 1q44 in a patient with hypogenesis of the corpus callosum, seizures and microcephaly—a case report. Gene. 2017;616:41–4.
Tung Y, Lu H, Lin W, et al. Case report: identification of a de novo microdeletion 1q44 in a patient with seizures and developmental delay. Front Genet. 2021;12:648351.
Caliebe A, Kroes HY, van der Smagt JJ, et al. Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene. Eur J Med Genet. 2010;53(4):179–85.
Raun N, Mailo J, Spinelli E, et al. Quantitative phenotypic and network analysis of 1q44 microdeletion for microcephaly. Am J Med Genet A. 2017;173(4):972–7.
Selmer KK, Bryne E, Rødningen OK, Fannemel M. A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures. Eur J Med Genet. 2012;55(12):715–8.
Gupta R, Agarwal M, Boqqula VR, Phadke RV, Phadke SR. Hemiconvulsion-hemiplegia-epilepsy syndrome with 1q44 microdeletion: causal or chance association. Am J Med Genet A. 2014;164A(1):186–9.
Perlman SJ, Kulkarni S, Manwaring L, Shinawi M. Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions. Am J Med Genet A. 2013;161A(4):711–6.
Ganapathi M, Nahum O, Levy B. Prenatal diagnosis using chromosomal SNP microarrays. Methods Mol Biol. 2019;1885:187–205.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86(5):749–64.
Granata P, Cocciadiferro D, Zito A, et al. Whole exome sequencing in 16p13.11 microdeletion patients reveals new variants through deductive and systems medicine approaches. Front Genet. 2022;13:798607.
Qiao Y, Bagheri H, Tang F, et al. Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication. Eur J Med Genet. 2019;62(2):103–8.
Horn S, Au M, Basel-Salmon L, et al. De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures. Brain. 2019;142(11):3351–9.
Huang W, Zhou Z, Asrar S, Henkelman M, Xie W, Jia Z. p21-Activated kinases 1 and 3 control brain size through coordinating neuronal complexity and synaptic properties. Mol Cell Biol. 2011;31(3):388–403.
Ohori S, Mitsuhashi S, Ben-Haim R, et al. A novel PAK1 variant causative of neurodevelopmental disorder with postnatal macrocephaly. J Hum Genet. 2020;65(5):481–5.
Mazur PK, Reynoird N, Khatri P, et al. SMYD3 links lysine methylation of MAP3K2 to Ras-driven cancer. Nature. 2014;510(7504):283–7.
Wang F, Qi J, Yu T, et al. Novel karyotypes of partial monosomy 21 and partial monosomy 1 and underlying etiology. Int J Clin Exp Pathol. 2017;10(9):9765–73.