Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

Chondrosarcoma in Metachondromatosis

(2010) Andreas F Mavrogenis et al.   JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

(2010) Nara L. M. Sobreira et al.   PLoS Genetics

The tyrosine phosphatase Shp2 (PTPN11) directs Neuregulin-1/ErbB signaling throughout Schwann cell development

(2009) K. S. Grossmann et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PTHR1 mutations associated with Ollier disease result in receptor loss of function

(2008) Alain Couvineau et al.   HUMAN MOLECULAR GENETICS

Multiple osteochondromas

(2008) Judith VMG Bovée   Orphanet Journal of Rare Diseases