Lesley McGregor
Women's and Children's Hospital(AU)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Congenital heart defects research, Prenatal Screening and Diagnostics, Genomics and Rare Diseases, Ocular Disorders and Treatments
Most-Cited Works
- → Fraser syndrome and mouse blebbed phenotype caused by mutations in FRAS1/Fras1 encoding a putative extracellular matrix protein(2003)257 cited
- → A Mechanism for Gene-Environment Interaction in the Etiology of Congenital Scoliosis(2012)223 cited
- → Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs(2005)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
- → High Yield of Pathogenic Germline Mutations Causative or Likely Causative of the Cancer Phenotype in Selected Children with Cancer(2018)69 cited
- → Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients(2019)67 cited
- → Deleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita(2019)46 cited
- → De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review(2013)44 cited
- → A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay(2018)34 cited
- → Ectodermal dysplasia‐skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene(2011)33 cited