Publications
Export 6 results:
Filters: Author is Walkiewicz, Magdalena and Keyword is Adolescent [Clear All Filters]
Molecular findings among patients referred for clinical whole-exome sequencing. JAMA. 2014 ;312(18):1870-9.
. Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. Genome Med. 2017 ;9(1):73.
. POGZ truncating alleles cause syndromic intellectual disability. Genome Med. 2016 ;8(1):3.
. Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. Genome Res. 2016 ;26(9):1170-7.
. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 ;139(1):232-245.
. Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies. Am J Hum Genet. 2018 ;102(5):985-994.
.