Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Silvia Cappello, Mary Jane Gray, Caroline Badouel, +28

Nature Genetics

Molecular NeuroscienceDevelopmental BiologySignaling PathwayBrain DevelopmentCerebral Cortical Development +5

Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome

Volney Sheen, Anna Jansen, M. H. Chen, +30

Neurology

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Zandra A. Jenkins, Margriet van Kogelenberg, Tim Morgan, +22

Nature Genetics

Somatic VariantCancer PathologyMendelian DisorderGenetic DisorderGenetics +7

Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid

Kathrin Laue, Hans‐Martin Pogoda, Philip B. Daniel, +15

The American Journal of Human Genetics

Developmental BiologyOphthalmologyRetinoic AcidCraniofacial DevelopmentLocalized Degradation +3

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

Eyal Reinstein, Sophia Frentz, Tim Morgan, +22

European Journal of Human Genetics

Developmental BiologyMendelian DisorderX-linked Periventricular HeterotopiaGeneticsPathology +4

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

Silvio Alessandro Di Gioia, Samantha Connors, Norisada Matsunami, +67

Nature Communications

12 IL28B POLYMORPHISM PREDICTS VIROLOGIC RESPONSE IN PATIENTS WITH HEPATITIS C GENOTYPE 1 TREATED WITH BOCEPREVIR (BOC) COMBINATION THERAPY

F. Poordad, J.-P. Bronowicki, Stuart C. Gordon, +11

Journal of Hepatology

HepatologyHepatitis CViral HepatitisImmunologyAntiviral Response +9

Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

Kieran J. Bunn, Phil Daniel, Heleen S. Rösken, +8

The American Journal of Human Genetics

Genetic DisorderGeneticsPathologyMedicineRobinow Syndrome

Further expansion of the phenotypic spectrum associated with mutations in <i>ALDH18A1</i>, encoding Δ¹‐pyrroline‐5‐carboxylate synthase (P5CS)

David Skidmore, David Chitayat, Tim Morgan, +10

American Journal of Medical Genetics Part A

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Emma M. Wade, Philip B. Daniel, Zandra A. Jenkins, +27

The American Journal of Human Genetics

Signal TransductionSignaling PathwayCell RegulationGenetic DisorderGenetics +4