Related references
Note: Only part of the references are listed.Will evinacumab become the standard treatment for homozygous familial hypercholesterolemia?
Sheila A. Doggrell
EXPERT OPINION ON BIOLOGICAL THERAPY (2021)
Multiple Linear Regression Allows Weighted Burden Analysis of Rare Coding Variants in an Ethnically Heterogeneous Population
David Curtis
HUMAN HEREDITY (2021)
Coalescing expansile skeletal disease: Delineation of an extraordinary osteopathy involving the IFITM5 mutation of osteogenesis imperfecta type V
Michael P. Whyte et al.
BONE (2021)
Analysis of exome-sequenced UK Biobank subjects implicates genes affecting risk of hyperlipidaemia
David Curtis
MOLECULAR GENETICS AND METABOLISM (2020)
Mice lacking global Stap1 expression do not manifest hypercholesterolemia
Babunageswararao Kanuri et al.
BMC MEDICAL GENETICS (2020)
A new clinical screening strategy and prevalence estimation for glucokinase variant-induced diabetes in an adult Chinese population
Yumin Ma et al.
GENETICS IN MEDICINE (2019)
SMARCAD1 ATPase activity is required to silence endogenous retroviruses in embryonic stem cells
Parysatis Sachs et al.
NATURE COMMUNICATIONS (2019)
GIAT4RA functions as a tumor suppressor in non-small cell lung cancer by counteracting Uchl3-mediated deubiquitination of LSH
Rui Yang et al.
ONCOGENE (2019)
A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family
Marianna Maranghi et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2019)
Mipomersen and its use in familial hypercholesterolemia
Johnathon Seth Parham et al.
EXPERT OPINION ON PHARMACOTHERAPY (2019)
Angiopoietin-Like 3 From Discovery to Therapeutic Gene Editing
Xiao Wang et al.
JACC-BASIC TO TRANSLATIONAL SCIENCE (2019)
No evidence that carotenoid pigments boost either immune or antioxidant defenses in a songbird
Rebecca E. Koch et al.
NATURE COMMUNICATIONS (2018)
Associations of the ABCA1 gene polymorphisms with plasma lipid levels A meta-analysis
Zhan Lu et al.
MEDICINE (2018)
Ablation of PPP1R3G reduces glycogen deposition and mitigates high-fat diet induced obesity
Yongxian Zhang et al.
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2017)
Genetic Architecture of Familial Hypercholesterolaemia
Mahtab Sharifi et al.
CURRENT CARDIOLOGY REPORTS (2017)
Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia
Kevin J. Galinsky et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2016)
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
Tarjinder Singh et al.
NATURE NEUROSCIENCE (2016)
Pathway analysis of whole exome sequence data provides further support for the involvement of histone modification in the aetiology of schizophrenia
David Curtis
PSYCHIATRIC GENETICS (2016)
The Ensembl Variant Effect Predictor
William McLaren et al.
GENOME BIOLOGY (2016)
A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease
Solveig Gretarsdottir et al.
PLOS GENETICS (2015)
Second-generation PLINK: rising to the challenge of larger and richer datasets
Christopher C. Chang et al.
GIGASCIENCE (2015)
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
Marina Cuchel et al.
TURK KARDIYOLOJI DERNEGI ARSIVI-ARCHIVES OF THE TURKISH SOCIETY OF CARDIOLOGY (2015)
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
Priya S. Kishnani et al.
GENETICS IN MEDICINE (2014)
ATP-binding cassette transporter A1: From metabolism to neurodegeneration
Radosveta Koldamova et al.
NEUROBIOLOGY OF DISEASE (2014)
Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society
Marina Cuchel et al.
EUROPEAN HEART JOURNAL (2014)
Tangier Disease
Mariarita Puntoni et al.
American Journal of Cardiovascular Drugs (2013)
Discovery and refinement of loci associated with lipid levels
Cristen J. Willer et al.
NATURE GENETICS (2013)
X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
Marc Engelen et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Efficacy of apolipoprotein B synthesis inhibition in subjects with mild-to-moderate hyperlipidaemia
Fatima Akdim et al.
EUROPEAN HEART JOURNAL (2011)
NPC1L1 and cholesterol transport
Jenna L. Betters et al.
FEBS LETTERS (2010)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
A Subramanian et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Share Paper
