Salim Aftimos

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A. Simpson, Melita Irving, Esra Asilmaz et al. · Nature Genetics · 2011 · 308 citations

Medicine, Genetics, Molecular Genetics +13

Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis

Deborah Krakow, Stephen P. Robertson, Lily King et al. · Nature Genetics · 2004 · 289 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

Louise S. Bicknell, Ernie M.H.F. Bongers, Andrea Leitch et al. · Nature Genetics · 2011 · 251 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

The genetic basis of DOORS syndrome: an exome-sequencing study

Philippe M. Campeau, Dalia Kasperavičiūtė, James T. Lu et al. · The Lancet Neurology · 2013 · 227 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

Pleasantine Mill, Paul J. Lockhart, Elizabeth Fitzpatrick et al. · The American Journal of Human Genetics · 2011 · 168 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15