Alex Magee
Institute of Cancer Research(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Congenital Ear and Nasal Anomalies, Epigenetics and DNA Methylation
Most-Cited Works
- → Evidence for 28 genetic disorders discovered by combining healthcare and research data(2020)646 cited
- → Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion Syndrome(2006)395 cited
- → Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)243 cited
- → Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome(2006)222 cited
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- → Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height(2011)169 cited
- → Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism(2014)168 cited
- → Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype(2013)145 cited
- → AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders(2006)138 cited
- → Clinical and genetic aspects of KBG syndrome(2016)137 cited