Abou Tayoun AN, Pesaran T, DiStefano MT, Oza A, Rehm HL, Biesecker LG, Harrison SM. Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat. 2018;39(11):1517–24.
Article
Google Scholar
Bertoli-Avella AM, Kandaswamy KK, Khan S, Ordonez-Herrera N, Tripolszki K, Beetz C, Rocha ME, Urzi A, Hotakainen R, Leubauer A, et al. Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders. Genet Med. 2021;23(8):1551–68.
Article
CAS
Google Scholar
Casanova EL, Gerstner Z, Sharp JL, Casanova MF, Feltus FA. Widespread genotype-phenotype correlations in intellectual disability. Front Psychiatry. 2018;9:535.
Article
Google Scholar
Clark MM, Stark Z, Farnaes L, Tan TY, White SM, Dimmock D, Kingsmore SF. Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases. NPJ Genom Med. 2018;3:16.
Article
Google Scholar
Costain G, Jobling R, Walker S, Reuter MS, Snell M, Bowdin S, Cohn RD, Dupuis L, Hewson S, Mercimek-Andrews S, et al. Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing. Eur J Hum Genet. 2018;26(5):740–4.
Article
CAS
Google Scholar
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367(20):1921–9.
Article
Google Scholar
Ewans LJ, Schofield D, Shrestha R, Zhu Y, Gayevskiy V, Ying K, Walsh C, Lee E, Kirk EP, Colley A, et al. Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders. Genet Med. 2018;20(12):1564–74.
Article
Google Scholar
Farwell KD, Shahmirzadi L, El-Khechen D, Powis Z, Chao EC, Tippin Davis B, Baxter RM, Zeng W, Mroske C, Parra MC, et al. Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. Genet Med. 2015;17(7):578–86.
Article
CAS
Google Scholar
Fung JLF, Yu MHC, Huang S, Chung CCY, Chan MCY, Pajusalu S, Mak CCY, Hui VCC, Tsang MHY, Yeung KS, et al. A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis. NPJ Genom Med. 2020;5:37.
Article
CAS
Google Scholar
Harrison SM, Biesecker LG, Rehm HL. Overview of Specifications to the ACMG/AMP Variant Interpretation Guidelines. Curr Protoc Hum Genet. 2019;103(1):e93.
PubMed
PubMed Central
Google Scholar
Julca DM, Diaz J, Berger S, Leon E. MAP1B related syndrome: case presentation and review of literature. Am J Med Genet A. 2019;179(9):1703–8.
PubMed
Google Scholar
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, Herman GE, Hufnagel SB, Klein TE, Korf BR, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19(2):249–55.
Article
Google Scholar
Kim SH, Kim B, Lee JS, Kim HD, Choi JR, Lee ST, Kang HC. Proband-only clinical exome sequencing for neurodevelopmental disabilities. Pediatr Neurol. 2019;99:47–54.
Article
Google Scholar
Kim SY, Lee S, Seo GH, Kim BJ, Oh DY, Han JH, Park MK, Lee SM, Kim B, Yi N, et al. Powerful use of automated prioritization of candidate variants in genetic hearing loss with extreme etiologic heterogeneity. Sci Rep. 2021;11(1):19476.
Article
CAS
Google Scholar
Kim MJ, Yum MS, Seo GH, Lee Y, Jang HN, Ko TS, Lee BH. Clinical application of whole exome sequencing to identify rare but remediable neurologic disorders. J Clin Med. 2020;9(11):3724.
Article
CAS
Google Scholar
Lecoquierre F, Duffourd Y, Vitobello A, Bruel AL, Urteaga B, Coubes C, Garret P, Nambot S, Chevarin M, Jouan T, et al. Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants. Genet Med. 2019;21(11):2504–11.
Article
Google Scholar
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754–60.
Article
CAS
Google Scholar
Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. The sequence alignment/map format and SAMtools. Bioinformatics. 2009;25(16):2078–9.
Article
Google Scholar
Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, et al. Reanalysis of clinical exome sequencing data. N Engl J Med. 2019;380(25):2478–80.
Article
Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303.
Article
CAS
Google Scholar
Mirzaa GM, Chong JX, Piton A, Popp B, Foss K, Guo H, Harripaul R, Xia K, Scheck J, Aldinger KA, et al. De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder. Genet Med. 2020;22(3):538–46.
Article
CAS
Google Scholar
Moeschler JB, Shevell M. Comprehensive evaluation of the child with intellectual disability or global developmental delays. Pediatrics. 2014;134(3):e903-918.
Article
Google Scholar
Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021;108(3):502–16.
Article
CAS
Google Scholar
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380(9854):1674–82.
Article
CAS
Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, 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.
Article
Google Scholar
Ropers HH. Genetics of early onset cognitive impairment. Annu Rev Genomics Hum Genet. 2010;11:161–87.
Article
CAS
Google Scholar
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, et al. AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019;10(1):3094.
Article
Google Scholar
Seo GH, Kim T, Choi IH, Park JY, Lee J, Kim S, Won DG, Oh A, Lee Y, Choi J, et al. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Clin Genet. 2020;98(6):562–70.
Article
CAS
Google Scholar
Srivastava S, Love-Nichols JA, Dies KA, Ledbetter DH, Martin CL, Chung WK, Firth HV, Frazier T, Hansen RL, Prock L, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019;21(11):2413–21.
Article
Google Scholar
Srour M, Shevell M. Genetics and the investigation of developmental delay/intellectual disability. Arch Dis Child. 2014;99(4):386–9.
Article
Google Scholar
Study TD. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542(7642):433–8.
Article
Google Scholar
Tan TY, Lunke S, Chong B, Phelan D, Fanjul-Fernandez M, Marum JE, Kumar VS, Stark Z, Yeung A, Brown NJ, et al. A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis. Eur J Hum Genet. 2019;27(12):1791–9.
Article
Google Scholar
Vasudevan P, Suri M. A clinical approach to developmental delay and intellectual disability. Clin Med (lond). 2017;17(6):558–61.
Article
Google Scholar
Vissers LE, Gilissen C, Veltman JA. Genetic studies in intellectual disability and related disorders. Nat Rev Genet. 2016;17(1):9–18.
Article
CAS
Google Scholar
Wenger AM, Guturu H, Bernstein JA, Bejerano G. Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. Genet Med. 2017;19(2):209–14.
Article
Google Scholar
Won D, Kim SH, Kim B, Lee ST, Kang HC, Choi JR. Reanalysis of genomic sequencing results in a clinical laboratory: advantages and limitations. Front Neurol. 2020;11:612.
Article
Google Scholar
Zablotsky B, Black LI, Maenner MJ, Schieve LA, Danielson ML, Bitsko RH, Blumberg SJ, Kogan MD, Boyle CA. Prevalence and trends of developmental disabilities among children in the United States: 2009–2017. Pediatrics. 2019;144(4):e20190811.
Article
Google Scholar