28. N COSEMANS
Information acquired: 2025
N COSEMANS is an academic who published a paper in 2016 entitled Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and development. N COSEMANS published this work as part of a team: Bernier, R. Here is a description of this work: Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs), but most pathogenic genes are not known. We sequenced 208 candidate genes from >11,730 patients and >2,867 controls. We report 91 genes with an excess of de novo mutations or private disruptive mutations in 5.7% of patients, including 38 novel NDD genes. Drosophila functional assays of a subset bolster their involvement in NDDs. We identify 25 genes that show a bias for autism versus intellectual disability and highlight a network associated with high-functioning autism (FSIQ>100). Clinical follow-up for NAA15, KMT5B, and ASH1L reveals novel syndromic and non-syndromic forms of disease. n n[Note: Upload of individual sample-level raw data files is ongoing and expected to be completed by 02/28/2017.].