Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis

Human phenotypes caused by PIEZO1 mutations; one gene, two overlapping phenotypes?

(2018) Silvia Martin-Almedina et al.   JOURNAL OF PHYSIOLOGY-LONDON

Pseudoamniotic Band Syndrome Post Fetal Thoracoamniotic Shunting for Bilateral Hydrothorax

(2017) Michelle Han et al.   Fetal and Pediatric Pathology

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development

(2017) Carin L Yates et al.   GENETICS IN MEDICINE

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia–lymphedema syndrome 3

(2017) Pascal Brouillard et al.   HUMAN MOLECULAR GENETICS

Epidemiology of Live Born Infants with Nonimmune Hydrops Fetalis—Insights from a Population-Based Dataset

(2017) Martina A. Steurer et al.   JOURNAL OF PEDIATRICS

Whole genome sequencing identifies etiology of recurrent male intrauterine fetal death

(2017) Omar Shehab et al.   PRENATAL DIAGNOSIS

Promises, pitfalls and practicalities of prenatal whole exome sequencing

(2017) Sunayna Best et al.   PRENATAL DIAGNOSIS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Identification of a novel nonsense mutation in theFOXP3gene in a fetus with hydrops-Expanding the phenotype of IPEX syndrome

(2015) Sara L. Reichert et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Society for Maternal-Fetal Medicine (SMFM) Clinical Guideline #7: nonimmune hydrops fetalis

(2015) Mary E. Norton et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

(2015) Viktor Lukacs et al.   Nature Communications

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

(2015) Elisavet Fotiou et al.   Nature Communications

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

(2014) Mariëlle Alders et al.   HUMAN GENETICS

Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders

(2014) Hane Lee et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Piezo1 integration of vascular architecture with physiological force

(2014) Jing Li et al.   NATURE

dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

(2013) Xiaoming Liu et al.   HUMAN MUTATION

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

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

(2013) Juliette Albuisson et al.   Nature Communications

Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis

(2012) R. Zarychanski et al.   BLOOD

Prenatal diagnosis of non-immune hydrops fetalis: what do we tell the parents?

(2011) Susana Santo et al.   PRENATAL DIAGNOSIS

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

(2009) Marielle Alders et al.   NATURE GENETICS