Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans

Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith et al. · Nature Genetics · 2003 · 429 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome

Paquita Nurden, Najet Debili, Isabelle Coupry et al. · Blood · 2011 · 164 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

Stephen P. Robertson · European Journal of Human Genetics · 2006 · 83 citations · Full text

Medicine, Dermatology, Otolaryngology +13

Whole exome sequence analysis of Peters anomaly

Eric Weh, Linda M. Reis, Hannah C. Happ et al. · Human Genetics · 2014 · 81 citations · Full text

Medicine, Genetics, Molecular Genetics +11

Frontometaphyseal dysplasia: Mutations in <i>FLNA</i> and phenotypic diversity

Stephen P. Robertson, Zandra A. Jenkins, Timothy Morgan et al. · American Journal of Medical Genetics Part A · 2006 · 77 citations

Life Sciences, Genetics, Molecular Genetics +17