Identification of rare genetic variants in novel loci associated with Paget’s disease of bone

The S349T mutation of SQSTM1 links Keap1/Nrf2 signalling to Paget's disease of bone

(2012) Tao Wright et al.   BONE

Rare and common variants: twenty arguments

(2012) Greg Gibson   NATURE REVIEWS GENETICS

Triterpenoid Dihydro-CDDO-Trifluoroethyl Amide Protects against Maladaptive Cardiac Remodeling and Dysfunction in Mice: A Critical Role of Nrf2

(2012) Yifan Xing et al.   PLoS One

Identification of de novo mutations and rare variants in hypoplastic left heart syndrome

(2011) M Iascone et al.   CLINICAL GENETICS

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone

(2011) Omar M E Albagha et al.   NATURE GENETICS

Molecular genetic studies of complex phenotypes

(2011) Ali J. Marian   Translational Research

Coding Sequence Rare Variants Identified in MYBPC3 , MYH6 , TPM1 , TNNC1 , and TNNI3 From 312 Patients With Familial or Idiopathic Dilated Cardiomyopathy

(2010) Ray E. Hershberger et al.   Circulation-Cardiovascular Genetics

Rare genetic variants and the risk of cancer

(2010) Walter Bodmer et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Frequency and characteristics of familial aggregation of paget's disease of bone

(2010) A.A. Morales-Piga et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Familial aggregation of paget's disease of bone

(2010) Ethel S. Siris et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A WNK4 gene variant relates to osteoporosis and not to hypertension in the Portuguese population

(2010) Ana Isabel Mendes et al.   MOLECULAR GENETICS AND METABOLISM

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

(2010) Omar M E Albagha et al.   NATURE GENETICS

Uncovering the roles of rare variants in common disease through whole-genome sequencing

(2010) Elizabeth T. Cirulli et al.   NATURE REVIEWS GENETICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Human genetic variation and its contribution to complex traits

(2009) Kelly A. Frazer et al.   NATURE REVIEWS GENETICS

Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

(2009) S. Nejentsev et al.   SCIENCE

Ancestry in translational genomic medicine: handle with care

(2009) David Gurwitz et al.   Genome Medicine

Shifting Paradigm of Association Studies: Value of Rare Single-Nucleotide Polymorphisms

(2008) Ivan P. Gorlov et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Coding Sequence Mutations Identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 Patients with Familial or Idiopathic Dilated Cardiomyopathy

(2008) Ray E. Hershberger et al.   CTS-Clinical and Translational Science

A treasure trove for lipoprotein biology

(2008) Aldons J Lusis et al.   NATURE GENETICS

Common and rare variants in multifactorial susceptibility to common diseases

(2008) Walter Bodmer et al.   NATURE GENETICS

Cthrc1 Is a Positive Regulator of Osteoblastic Bone Formation

(2008) Hiroaki Kimura et al.   PLoS One