Related references
Note: Only part of the references are listed.Guidelines for investigating causality of sequence variants in human disease
D. G. MacArthur et al.
NATURE (2014)
Filamin C-related myopathies: pathology and mechanisms
Dieter O. Fuerst et al.
ACTA NEUROPATHOLOGICA (2013)
Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activity
Alessandra Ruggiero et al.
CARDIOVASCULAR RESEARCH (2013)
When Lamins Go Bad: Nuclear Structure and Disease
Katherine H. Schreiber et al.
CELL (2013)
A Paradigm Shift in Our Understanding of the Development of the Hypertrophic Cardiomyopathy Phenotype? Not So Fast!
Martin S. Maron
CIRCULATION (2013)
Calmodulin Mutations Associated With Recurrent Cardiac Arrest in Infants
Lia Crotti et al.
CIRCULATION (2013)
Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene
Hana Hartmannova et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2013)
'State-of-the-heart' of cardiac laminopathies
Marie-Elodie Cattin et al.
CURRENT OPINION IN CARDIOLOGY (2013)
Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro
Misato Fujita et al.
DEVELOPMENTAL BIOLOGY (2012)
Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy
Felix W. Friedrich et al.
HUMAN MOLECULAR GENETICS (2012)
Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia
Victor Quesada et al.
NATURE GENETICS (2012)
Mechanisms of disease: hypertrophic cardiomyopathy
Norbert Frey et al.
NATURE REVIEWS CARDIOLOGY (2012)
A Mutation in the Thyroid Hormone Receptor Alpha Gene
Elena Bochukova et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome
Xose S. Puente et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines
Bernard J. Gersh et al.
CIRCULATION (2011)
Identifying Sarcomere Gene Mutations in Hypertrophic Cardiomyopathy A Personal History
Christine E. Seidman et al.
CIRCULATION RESEARCH (2011)
Whole-genome sequencing identifies recurrent mutations in chronic lymphocytic leukaemia
Xose S. Puente et al.
NATURE (2011)
A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family
Xinghua Luan et al.
NEUROMUSCULAR DISORDERS (2010)
The Sequence Alignment/Map format and SAMtools
Heng Li et al.
BIOINFORMATICS (2009)
Fast and accurate short read alignment with Burrows-Wheeler transform
Heng Li et al.
BIOINFORMATICS (2009)
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy
Alexey Shatunov et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Accurate whole human genome sequencing using reversible terminator chemistry
David R. Bentley et al.
NATURE (2008)
Clinical and morphological phenotype of the filamin myopathy:: a study of 31 German patients
Rudolf A. Kley et al.
BRAIN (2007)
Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure
I. Dalkilic et al.
MOLECULAR AND CELLULAR BIOLOGY (2006)
A mutation in the dimerization domain of filamin C causes a novel type of autosomal dominant myofibrillar myopathy
M Vorgerd et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
C Meredith et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy - A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Gcuidelines
RA Vogel et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2003)