Characterising a healthy adult with a rare HAO1 knockout to support a therapeutic strategy for primary hyperoxaluria

Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference

(2018) Laura J. Corbin et al.   Nature Communications

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity

(2017) Danish Saleheen et al.   NATURE

Calls grow to tap the gold mine of human genetic knockouts

(2017) Asher Mullard   NATURE REVIEWS DRUG DISCOVERY

A Highly Durable RNAi Therapeutic Inhibitor of PCSK9

(2017) Kevin Fitzgerald et al.   NEW ENGLAND JOURNAL OF MEDICINE

Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria

(2017) Oliver Clifford-Mobley et al.   PEDIATRIC NEPHROLOGY

An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria

(2016) Abigail Liebow et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1

(2016) Chaitali Dutta et al.   MOLECULAR THERAPY

Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I

(2016) Cristina Martin-Higueras et al.   MOLECULAR THERAPY

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

Mutations inHAO1encoding glycolate oxidase cause isolated glycolic aciduria

(2014) Yaacov Frishberg et al.   JOURNAL OF MEDICAL GENETICS

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

(2014) Elaine T. Lim et al.   PLoS Genetics

Primary Hyperoxaluria

(2013) Pierre Cochat et al.   NEW ENGLAND JOURNAL OF MEDICINE