Additional file 1 of Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly

Additional file 1: Supplementary Table S1. Detailed phenotypic and genotypic data of 55 cases with a monogenic cause

Additional file 2 of Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly

Additional file 2: Supplementary Figure S1. The expressional trajectories in neocortex and annotation of the mutated known genes in the cohort; Supplementary Figure S2. Sanger sequencing confirmation and segregation of the identified novel candidate genes; Supplementary Figure S3. Flowchart of calling SVs from exome sequence data using GATK, and each step in the SVs annotating and filtering is listed; Supplementary Figure S4. Flowchart of calling CNV from exome sequence data using XHMM; Supplementary table S2. The CNV identified from WES data in 15 patients in our cohort; Supplementary table S3. Additional mutated cases of candidate genes from 5066 families with NDDs; Supplementary methods. Figure S1. The expressional trajectories in neocortex and annotation of the mutated known genes in the cohort. Figure S2. Sanger sequencing confirmation and segregation of the identified novel candidate genes. Figure S3. Flowchart of calling SVs from exome sequence data using GATK, and each step in the SVs annotating and filtering is listed. Figure S4. Flowchart of calling CNV from exome sequence data using XHMM. Figure 4D. Transient overexpression of N-terminally Flag-tagged cDNA constructs modeling the wild-type allele and two independent PWP2 variants (p.Arg660Gln and p.Trp486*) in HEK293 cells. Figure 5E. Transient overexpression of N-terminally Flag-tagged cDNA constructs modeling the wild-type allele and mutant CCND2 (p.Gln169*) in HEK293 cells. Table S1. Table S2. The CNV identified from WES data in 15 patients in our cohort. Table S3. Additional mutated cases of candidate genes from 5066 families with NDDs