Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum

In vivo enhancer analysis of human conserved non-coding sequences

L Pennacchio, Nadav Ahituv, Alan M Moses et al. · Nature · 2006 · 1.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Highly Conserved Non-Coding Sequences Are Associated with Vertebrate Development

Adam Woolfe, Martin Goodson, Debbie K. Goode et al. · PLoS Biology · 2004 · 987 citations · Full text

Life Sciences, Developmental Biology, Genetics +16

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 · 436 citations

Life Sciences, Genetics, Molecular Genetics +10

Syndromes of the head and neck.

Peter Beighton · Journal of Bone and Joint Surgery - British Volume · 2002 · 223 citations

Medicine, Orthopaedic Surgery, Surgery +6

Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification

Christiane Tasse, Stefan Böhringer, Sven Fischer et al. · European Journal of Medical Genetics · 2005 · 214 citations

Medicine, Ophthalmology, Radiology +8