Mutations in NOTCH2 in patients with Hajdu–Cheney syndrome

Osteoblast Lineage-Specific Effects of Notch Activation in the Skeleton

(2012) Ernesto Canalis et al.   ENDOCRINOLOGY

Notch signaling in human development and disease

(2012) Andrea L. Penton et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome

(2011) Mary J Gray et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

(2011) Jacek Majewski et al.   HUMAN MUTATION

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

(2011) Bertrand Isidor et al.   NATURE GENETICS

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

(2011) Michael A Simpson et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Signaling Pathways in Human Skeletal Dysplasias

(2010) Dustin Baldridge et al.   Annual Review of Genomics and Human Genetics

Gain-of-function mutations and copy number increases of Notch2 in diffuse large B-cell lymphoma

(2009) Suk-young Lee et al.   CANCER SCIENCE

The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism

(2009) Raphael Kopan et al.   CELL

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

(2009) Andreas Gnirke et al.   NATURE BIOTECHNOLOGY

The Association of Notch2 and NF- B Accelerates RANKL-Induced Osteoclastogenesis

(2008) H. Fukushima et al.   MOLECULAR AND CELLULAR BIOLOGY

Dimorphic effects of Notch signaling in bone homeostasis

(2008) Feyza Engin et al.   NATURE MEDICINE