Melissa Lees

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

Sabina Benko, Judy Fantes, Jeanne Amiel et al. · Nature Genetics · 2009 · 433 citations

Sequence Motif, Comparative Genomics, Genetics +10

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

Cynthia F. Bartels, Hülya Bükülmez, Pius S. Padayatti et al. · The American Journal of Human Genetics · 2004 · 363 citations · Full text

Sclerostin, Signal Transduction, Molecular Physiology +8

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn et al. · Nature Genetics · 2011 · 256 citations

Complement System, Genetic Disorder, Genetics +7

Dominant missense mutations in ABCC9 cause Cantú syndrome

Magdaléna Harakaľová, J. J. T. van Harssel, Stef van Lieshout et al. · Nature Genetics · 2012 · 199 citations

Mendelian Disorder, Genetic Disorder, Genetics +5