Frances Flinter

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

David Vetrie, Igor Vořechovský, Paschalis Sideras et al. · Nature · 1993 · 1.5K citations

Protein Function, Signal Transduction, Molecular Physiology +14

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Philip L. Beales, Nursel Elçioğlu, Adrian S. Woolf et al. · Journal of Medical Genetics · 1999 · 962 citations · Full text

Improved Diagnosis, Diagnosis, Pathology +16

X-linked Alport Syndrome

Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2000 · 574 citations

X-Linked Alport Syndrome

Jean Philippe Jaïs, Bertrand Knebelmann, Iannis Giatras et al. · Journal of the American Society of Nephrology · 2003 · 469 citations · Full text

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Keren Carss, Gavin Arno, Marie Erwood et al. · The American Journal of Human Genetics · 2016 · 463 citations · Full text

Whole-genome Sequencing, Allelic Variant, Genetic Disorder +11