Alexa Kidd
Wellington Hospital(NZ)
Publications by Year
Research Areas
BRCA gene mutations in cancer, Neurogenetic and Muscular Disorders Research, Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, DNA Repair Mechanisms
Most-Cited Works
- → Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B(2004)606 cited
- → De novo mutations of SETBP1 cause Schinzel-Giedion syndrome(2010)506 cited
- → The spectrum ofWRNmutations in Werner syndrome patients(2006)223 cited
- → Familial hypercholesterolaemia: A model of care for Australasia(2011)201 cited
- → Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningiomas(2010)135 cited
- → Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations(2010)128 cited
- → Residual Ataxia Telangiectasia Mutated Protein Function in Cells from Ataxia Telangiectasia Patients, with 5762ins137 and 7271T→G Mutations, Showing a Less Severe Phenotype(2001)105 cited
- → Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa–Kuroki) syndrome(2004)103 cited
- → The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males(2006)101 cited
- → Further characterization of ATP6V0A2-related autosomal recessive cutis laxa(2012)93 cited