Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

The GENCODE exome: sequencing the complete human exome

(2011) Alison J Coffey et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

Pathologic Lower Extremity Fractures in Children With Alagille Syndrome

(2010) Christina B Bales et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

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

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

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

NOTCHing the bone: Insights into multi-functionality

(2009) Feyza Engin et al.   BONE

The Canonical Notch Signaling Pathway: Unfolding the Activation Mechanism

(2009) Raphael Kopan et al.   CELL

The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes

(2009) K. D. Pruitt et al.   GENOME RESEARCH

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

(2009) Murim Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dimorphic effects of Notch signaling in bone homeostasis

(2008) Feyza Engin et al.   NATURE MEDICINE