Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder

(2012) Christel Depienne et al.   HUMAN MUTATION

Duplication of the EFNB1 gene in familial hypertelorism: imbalance in ephrin-B1 expression and abnormal phenotypes in humans and mice

(2011) Christian Babbs et al.   HUMAN MUTATION

Craniofrontonasal dysostosis: variable expression in a three-generation family

(2010) Juha Kere et al.   CLINICAL GENETICS

Frontonasal dysplasia, coronal cranisoynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and varibale expression?

(2010) M. L. Kwee et al.   CLINICAL GENETICS

Ephrin-B1 forward signaling regulates craniofacial morphogenesis by controlling cell proliferation across Eph-ephrin boundaries

(2010) J. O. Bush et al.   GENES & DEVELOPMENT

Male With Mosaicism for Supernumerary Ring X Chromosome

(2010) Peter R. Baker et al.   JOURNAL OF CRANIOFACIAL SURGERY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

X Chromosome Inactivation Is Initiated in Human Preimplantation Embryos

(2009) Ilse M. van den Berg et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis

(2009) Yaran Wen et al.   NATURE GENETICS

Upstream open reading frames cause widespread reduction of protein expression and are polymorphic among humans

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

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics