Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome

Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

(2011) Carine Le Goff et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

(2011) S. Allali et al.   JOURNAL OF MEDICAL GENETICS

A new growth deficiency syndrome

(2010) Selma A. Myhre et al.   CLINICAL GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutations in Fibrillin-1 Cause Congenital Scleroderma: Stiff Skin Syndrome

(2010) B. L. Loeys et al.   Science Translational Medicine

Stimulation of Cholesterol Efflux by LXR Agonists in Cholesterol-Loaded Human Macrophages Is ABCA1-Dependent but ABCG1-Independent

(2009) Sandra Larrede et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

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

Chondrocyte-specificSmad4gene conditional knockout results in hearing loss and inner ear malformation in mice

(2009) Shi-Ming Yang et al.   DEVELOPMENTAL DYNAMICS

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation

(2008) Carine Le Goff et al.   NATURE GENETICS

How the Smads regulate transcription

(2007) Sarah Ross et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY