Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Etiology of non-immune hydrops fetalis: An update

(2015) Carlo Bellini et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome

(2014) Mariëlle Alders et al.   HUMAN GENETICS

Piezo1 integration of vascular architecture with physiological force

(2014) Jing Li et al.   NATURE

Piezo1, a mechanically activated ion channel, is required for vascular development in mice

(2014) S. S. Ranade et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1

(2013) I. Andolfo et al.   BLOOD

Recurrent mutation in thePIEZO1gene in two families of hereditary xerocytosis with fetal hydrops

(2013) C. Beneteau et al.   CLINICAL GENETICS

The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings

(2013) FC Connell et al.   CLINICAL GENETICS

Piezo1 plays a role in erythrocyte volume homeostasis

(2013) A. Faucherre et al.   HAEMATOLOGICA

Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1

(2013) C. Bae et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Plasticity of Button-Like Junctions in the Endothelium of Airway Lymphatics in Development and Inflammation

(2012) Li-Chin Yao et al.   AMERICAN JOURNAL OF PATHOLOGY

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

(2012) R. Zarychanski et al.   BLOOD

Popliteal Node Visualization During Standard Pedal Lymphoscintigraphy for a Swollen Limb Indicates Impaired Lymph Drainage

(2011) Katherine M. Burnand et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

(2011) Michael A Simpson et al.   NATURE GENETICS

BEDTools: a flexible suite of utilities for comparing genomic features

(2010) Aaron R. Quinlan et al.   BIOINFORMATICS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Piezo1 and Piezo2 Are Essential Components of Distinct Mechanically Activated Cation Channels

(2010) B. Coste et al.   SCIENCE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia

(2009) Fiona Connell et al.   HUMAN GENETICS

Integrin activation by Fam38A uses a novel mechanism of R-Ras targeting to the endoplasmic reticulum

(2009) B. J. McHugh et al.   JOURNAL OF CELL SCIENCE

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

(2009) Marielle Alders et al.   NATURE GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

First-trimester nuchal abnormalities secondary to dehydrated hereditary stomatocytosis

(2009) O. Ami et al.   PRENATAL DIAGNOSIS