R. Rogers

Confirmation of spondylo‐epi‐metaphyseal dysplasia with joint laxity, EXOC6B type

A. Superti-Furga, S. Unger, Belinda Campos-Xavier, 2018, American journal of medical genetics. Part A.

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

G. Mortier, A. Mégarbané, R. Scott, 2011, American journal of human genetics.

Escape of the yolk sac: a hypothesis to explain the embryogenesis of gastroschisis

Rebekah K. Stevenson, J. Chandler, A. Hunter, 2009, Clinical genetics.

Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome

K. Rauen, D B Everman, K J Champion, 2011, Clinical genetics.

Letter to the editor regarding Disciglio et al.: Interstitial 22q13 deletions not involving SHANK3 gene: A new contiguous gene syndrome

H. McDermid, L. Boccuto, K. Phelan, 2015, American journal of medical genetics. Part A.