Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome ATJ Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P ... Genetics in Medicine 18 (11), 1119–1127, 2016 | 71 | 2016 |
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta R Weerakkody, D Ross, DA Parry, B Ziganshin, J Vandrovcova, ... Genetics in Medicine 20 (11), 1414-1422, 2018 | 62 | 2018 |
Genetic epidemiology of motor neuron disease-associated variants in the Scottish population CS Black HA, Leighton DJ, Cleary EM, Rose E, Stephenson L, Colville S, Ross ... Neurobiology of Aging 51, 178.e11–178.e20, 2017 | 44 | 2017 |
Complement factor B is a determinant of both metabolic and cardiovascular features of metabolic syndrome PM Coan, M Barrier, N Alfazema, RN Carter, S Marion de Procé, ... Hypertension 70 (3), 624-633, 2017 | 39 | 2017 |
De novo mutations in autosomal recessive congenital malformations EMJ Black HA, Parry D, Atanur SS, Ross D, Rose E, Russell H, Stock S, Warner ... Genetics in Medicine 18 (12), 1325-1326, 2016 | 12 | 2016 |