Related references
Note: Only part of the references are listed.Formalising recall by genotype as an efficient approach to detailed phenotyping and causal inference
Laura J. Corbin et al.
NATURE COMMUNICATIONS (2018)
An Investigational RNAi Therapeutic Targeting Glycolate Oxidase Reduces Oxalate Production in Models of Primary Hyperoxaluria
Abigail Liebow et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2017)
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
Danish Saleheen et al.
NATURE (2017)
Calls grow to tap the gold mine of human genetic knockouts
[Anonymous]
NATURE REVIEWS DRUG DISCOVERY (2017)
A Highly Durable RNAi Therapeutic Inhibitor of PCSK9
Kevin Fitzgerald et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Glycolate oxidase deficiency in a patient with congenital hyperinsulinism and unexplained hyperoxaluria
Oliver Clifford-Mobley et al.
PEDIATRIC NEPHROLOGY (2017)
Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1
Chaitali Dutta et al.
MOLECULAR THERAPY (2016)
Glycolate Oxidase Is a Safe and Efficient Target for Substrate Reduction Therapy in a Mouse Model of Primary Hyperoxaluria Type I
Cristina Martin-Higueras et al.
MOLECULAR THERAPY (2016)
Health and population effects of rare gene knockouts in adult humans with related parents
Vagheesh M. Narasimhan et al.
SCIENCE (2016)
A Subcutaneously Administered Investigational RNAi Therapeutic (ALN-CC5) Targeting Complement C5 for Treatment of PNH and Complement-Mediated Diseases: Preliminary Phase 1/2 Study Results in Patients with PNH
Anita Hill et al.
BLOOD (2016)
Mutations in HAO1 encoding glycolate oxidase cause isolated glycolic aciduria
Yaacov Frishberg et al.
JOURNAL OF MEDICAL GENETICS (2014)
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
Elaine T. Lim et al.
PLOS GENETICS (2014)
Primary Hyperoxaluria
Pierre Cochat et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote
Zhenze Zhao et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Share Paper
