Ravi Savarirayan

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Clara Gaff, Alicia Oshlack, Peter Georgeson, 2017, JAMA pediatrics.

Patient safety in genomic medicine: an exploratory study

Clara Gaff, Dylan Mordaunt, Alicia Oshlack, 2016, Genetics in Medicine.

Neurodevelopmental functioning of infants with untreated single-suture craniosynostosis during early infancy

Anthony D. Holmes, Vicki A. Anderson, J. Meara, 2012, Child's Nervous System.

Mutations in PYCR1 cause cutis laxa with progeroid features

Peter Nürnberg, Stefan Mundlos, Barry Merriman, 2009, Nature Genetics.

Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision

Sheila Unger, Andrea Superti-Furga, Stefan Mundlos, 2011, American journal of medical genetics. Part A.

Nosology and classification of genetic skeletal disorders: 2015 revision

Sheila Unger, Stefan Mundlos, Luca Sangiorgi, 2015, American journal of medical genetics. Part A.

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage.

R. Savarirayan, Ravi Savarirayan, J. Bateman, 2003, Human molecular genetics.

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Philippe Debeer, Frank Speleman, Jan Hellemans, 2004, Nature Genetics.

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

David A. Mackey, Alex W. Hewitt, Kathryn P. Burdon, 2016, Translational vision science & technology.