Publications
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Filters: Keyword is Mutation and Author is Schaaf, Christian P [Clear All Filters]
Mutations in ASH1L confer susceptibility to Tourette syndrome. Mol Psychiatry. 2020 ;25(2):476-490.
. Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel). 2020 ;11(8).
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 ;380(25):2478-2480.
. Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 ;16(10):751-8.
. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 ;95(5):579-83.
. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Hum Mol Genet. 2011 ;20(17):3366-75.
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