Bruce Bennetts

Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

Linda S. Weaving, John Christodoulou, Sarah Williamson et al. · The American Journal of Human Genetics · 2004 · 498 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Genetic Disorder +12

Primary Structure of a Human Glandular Kallikrein Gene

Lynette J. Schedlich, Bruce Bennetts, Brian J. Morris · DNA · 1987 · 297 citations

Urology, Human Kallikrein, Primary Structure +13

Guidelines for the genetic diagnosis of hereditary recurrent fevers

Yael Shinar, Laura Obici, Ivona Aksentijevich et al. · Annals of the Rheumatic Diseases · 2012 · 196 citations · Full text

Recurrent Bouts, Hrf Genetic Testing, Disease Susceptibility +15

Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms

Thomas Forbes, Sara E. Howden, Kynan T. Lawlor et al. · The American Journal of Human Genetics · 2018 · 193 citations · Full text

Inflammation, Ciliopathic Renal Phenotype, Urology +12

RettBASE: The IRSA MECP2 variation database—a new mutation database in evolution

John Christodoulou, Andrew Grimm, Tony Maher et al. · Human Mutation · 2003 · 169 citations · Full text

Rett Syndrome, Genetics, Mecp2 Mutations +22