Anne Destrèe

Chromosome Abnormalities and Genetic Counseling

Bone Morphogenetic Protein (BMP) signaling in development and human diseases

Pulmonary disease is a component of distal arthrogryposis type 5

Cancer-associated cachexia

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

BMP signaling controls muscle mass

Inferring causality and functional significance of human coding DNA variants

Arthrogryposis: A Review and Update

Sclerostin: how human mutations have helped reveal a new target for the treatment of osteoporosis

Clinical application of exome sequencing in undiagnosed genetic conditions

Coming of age: ten years of next-generation sequencing technologies

TGF-β and the TGF-β Family: Context-Dependent Roles in Cell and Tissue Physiology

TGF-β and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease

Health Supervision for Children With Down Syndrome

Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D

Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

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

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction

Prenatal diagnosis of trisomy 6 mosaicism

Mutation of Perinatal Myosin Heavy Chain Associated with a Carney Complex Variant