Katherine Holman

Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study

Laurence Faivre, Gwenaëlle Collod‐Béroud, Bart Loeys et al. · The American Journal of Human Genetics · 2007 · 593 citations · Full text

Marfan Syndrome, Mendelian Disorder, Genetic Disorder +11

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

International Registry of Patients Carrying <i>TGFBR1</i> or <i>TGFBR2</i> Mutations

Guillaume Jondeau, Jacques Ropers, Ellen S. Regalado et al. · Circulation Cardiovascular Genetics · 2016 · 192 citations · Full text

Evidence of founder chromosomes in fragile X syndrome

Robert I. Richards, Katherine Holman, K. Friend et al. · Nature Genetics · 1992 · 186 citations

Chromatin, Cytogenetics, Genetic Disorder +8

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next‐Generation Sequencing

John Grigg, Gladys Ho, Ivan Prokudin et al. · Human Mutation · 2015 · 132 citations · Full text

Gap Junction Genes, Ocular Disease, Ophthalmology +12