Linlea Armstrong
University of British Columbia(CA)Vancouver Biotech (Canada)(CA)BC Children's Hospital(CA)B.C. Women's Hospital & Health Centre(CA)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Neurofibromatosis and Schwannoma Cases, Autism Spectrum Disorder Research
Most-Cited Works
- → De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes(2012)745 cited
- → Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas(2013)319 cited
- → Exome Sequencing and the Management of Neurometabolic Disorders(2016)279 cited
- → Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease(2006)233 cited
- → Skeletal abnormalities in neurofibromatosis type 1: Approaches to therapeutic options(2009)164 cited
- → Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1(2019)131 cited