Uhlén M, Fagerberg L, Hallström BM, Lindskog C, Oksvold P, Mardinoglu A, et al. (January 2015). "Proteomics. Tissue-based map of the human proteome". Science. 347 (6220): 1260419. doi:10.1126/science.1260419. PMID25613900.
Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, et al. (June 2017). "Novel MCA/ID syndrome with ASH1L mutation". American Journal of Medical Genetics. Part A. 173 (6): 1644–1648. doi:10.1002/ajmg.a.38193. PMID28394464. S2CID9243148.
Shen W, Krautscheid P, Rutz AM, Bayrak-Toydemir P, Dugan SL (January 2019). "De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder". European Journal of Medical Genetics. 62 (1): 55–60. doi:10.1016/j.ejmg.2018.05.003. PMID29753921. S2CID21674196.
Liu H, Liu DT, Lan S, Yang Y, Huang J, Huang J, Fang L (September 2021). "ASH1L mutation caused seizures and intellectual disability in twin sisters". Journal of Clinical Neuroscience. 91: 69–74. doi:10.1016/j.jocn.2021.06.038. PMID34373061. S2CID235691774.
Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, et al. (September 2015). "Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder". JAMA. 314 (9): 895–903. doi:10.1001/jama.2015.10078. PMID26325558.
Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, et al. (May 2020). "Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures". Epilepsia. 61 (5): 995–1007. doi:10.1111/epi.16508. hdl:10067/1759860151162165141. PMID32469098.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. (November 2012). "Diagnostic exome sequencing in persons with severe intellectual disability". The New England Journal of Medicine. 367 (20): 1921–1929. doi:10.1056/NEJMoa1206524. PMID23033978.
Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, et al. (May 2020). "Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures". Epilepsia. 61 (5): 995–1007. doi:10.1111/epi.16508. hdl:10067/1759860151162165141. PMID32469098.
Uhlén M, Fagerberg L, Hallström BM, Lindskog C, Oksvold P, Mardinoglu A, et al. (January 2015). "Proteomics. Tissue-based map of the human proteome". Science. 347 (6220): 1260419. doi:10.1126/science.1260419. PMID25613900.
Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, et al. (June 2017). "Novel MCA/ID syndrome with ASH1L mutation". American Journal of Medical Genetics. Part A. 173 (6): 1644–1648. doi:10.1002/ajmg.a.38193. PMID28394464. S2CID9243148.
Shen W, Krautscheid P, Rutz AM, Bayrak-Toydemir P, Dugan SL (January 2019). "De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder". European Journal of Medical Genetics. 62 (1): 55–60. doi:10.1016/j.ejmg.2018.05.003. PMID29753921. S2CID21674196.
Liu H, Liu DT, Lan S, Yang Y, Huang J, Huang J, Fang L (September 2021). "ASH1L mutation caused seizures and intellectual disability in twin sisters". Journal of Clinical Neuroscience. 91: 69–74. doi:10.1016/j.jocn.2021.06.038. PMID34373061. S2CID235691774.
Tammimies K, Marshall CR, Walker S, Kaur G, Thiruvahindrapuram B, Lionel AC, et al. (September 2015). "Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder". JAMA. 314 (9): 895–903. doi:10.1001/jama.2015.10078. PMID26325558.
Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, et al. (May 2020). "Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures". Epilepsia. 61 (5): 995–1007. doi:10.1111/epi.16508. hdl:10067/1759860151162165141. PMID32469098.
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, et al. (November 2012). "Diagnostic exome sequencing in persons with severe intellectual disability". The New England Journal of Medicine. 367 (20): 1921–1929. doi:10.1056/NEJMoa1206524. PMID23033978.
Okamoto N, Miya F, Tsunoda T, Kato M, Saitoh S, Yamasaki M, et al. (June 2017). "Novel MCA/ID syndrome with ASH1L mutation". American Journal of Medical Genetics. Part A. 173 (6): 1644–1648. doi:10.1002/ajmg.a.38193. PMID28394464. S2CID9243148.
Shen W, Krautscheid P, Rutz AM, Bayrak-Toydemir P, Dugan SL (January 2019). "De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder". European Journal of Medical Genetics. 62 (1): 55–60. doi:10.1016/j.ejmg.2018.05.003. PMID29753921. S2CID21674196.
Liu H, Liu DT, Lan S, Yang Y, Huang J, Huang J, Fang L (September 2021). "ASH1L mutation caused seizures and intellectual disability in twin sisters". Journal of Clinical Neuroscience. 91: 69–74. doi:10.1016/j.jocn.2021.06.038. PMID34373061. S2CID235691774.