Martin Christian

Whole-genome sequencing of patients with rare diseases in a national health system

Ernest Turro, Karyn Mégy, Olga Shamardina et al. · Nature · 2020 · 582 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management

Agnieszka Bierżyńska, Hugh J. McCarthy, Katrina Soderquest et al. · Kidney International · 2017 · 288 citations · Full text

Medicine, Molecular Genetics, Nephrology +14

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

James Thaventhiran, Hana Lango Allen, Oliver S. Burren et al. · Nature · 2020 · 242 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

Hugh J. McCarthy, Agnieszka Bierżyńska, M. Wherlock et al. · Clinical Journal of the American Society of Nephrology · 2013 · 174 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Establishing core outcome domains in pediatric kidney disease: report of the Standardized Outcomes in Nephrology—Children and Adolescents (SONG-KIDS) consensus workshops

Camilla S. Hanson, Jonathan C. Craig, Charlotte Logeman et al. · Kidney International · 2020 · 94 citations · Full text

Medicine, Nephrology, Pediatrics +14