Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders

[1] Moreno-De-Luca A(2013)Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence Lancet Neurol 12 406-414

[2] Myers SM(2014)Genome sequencing identifies major causes of severe intellectual disability Nature 511 344-347

[3] Challman TD(2003)Genetic syndromes among individuals with mental retardation Am J Med Genet A 123A 29-32

[4] Moreno-De-Luca D(2018)Significance testing for allelic heterogeneity Genetics 210 25-32

[5] Evans DW(2019)Insights into genetics, human biology and disease gleaned from family based genomic studies Genet Med 21 798-812

[6] Ledbetter DH(2017)Clinical exome sequencing: results from 2819 samples reflecting 1000 families Eur J Hum Genet 25 176-182

[7] Gilissen C(2010)Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 749-764

[8] Hehir-Kwa JY(2019)Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders Genet Med 21 2413-2421

[9] Thung DT(2021)Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) Genet Med 23 2029-2037

[10] van de Vorst M(2021)Novel Compound Heterozygous Mutation in Genes 12 557-564

[1] Moreno-De-Luca A(2013)Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence Lancet Neurol 12 406-414

[2] Myers SM(2014)Genome sequencing identifies major causes of severe intellectual disability Nature 511 344-347

[3] Challman TD(2003)Genetic syndromes among individuals with mental retardation Am J Med Genet A 123A 29-32

[4] Moreno-De-Luca D(2018)Significance testing for allelic heterogeneity Genetics 210 25-32

[5] Evans DW(2019)Insights into genetics, human biology and disease gleaned from family based genomic studies Genet Med 21 798-812

[6] Ledbetter DH(2017)Clinical exome sequencing: results from 2819 samples reflecting 1000 families Eur J Hum Genet 25 176-182

[7] Gilissen C(2010)Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 749-764

[8] Hehir-Kwa JY(2019)Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders Genet Med 21 2413-2421

[9] Thung DT(2021)Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) Genet Med 23 2029-2037

[10] van de Vorst M(2021)Novel Compound Heterozygous Mutation in Genes 12 557-564