Melissa Lees
Great Ormond Street Hospital(GB)University College London(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Cleft Lip and Palate Research, Craniofacial Disorders and Treatments
Most-Cited Works
- → Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence(2009)434 cited
- → Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux(2004)364 cited
- → Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome(2011)257 cited
- → Dominant missense mutations in ABCC9 cause Cantú syndrome(2012)199 cited
- → Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins(2016)168 cited
- → Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families(2015)162 cited
- → CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders