Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1

(2011) A. M. Slavotinek et al.   JOURNAL OF MEDICAL GENETICS

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

(2010) I. Garin et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Maternal Ethanol Consumption Alters the Epigenotype and the Phenotype of Offspring in a Mouse Model

(2010) Nina Kaminen-Ahola et al.   PLoS Genetics

FREM1 Mutations Cause Bifid Nose, Renal Agenesis, and Anorectal Malformations Syndrome

(2009) Anas M. Alazami et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The LDL Receptor

(2009) Joseph L. Goldstein et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

The Increase of Metopic Synostosis

(2009) Jacques van der Meulen et al.   JOURNAL OF CRANIOFACIAL SURGERY

Evolution in the frequency of nonsyndromic craniosynostosis

(2009) Federico Di Rocco et al.   Journal of Neurosurgery-Pediatrics

FGF9 monomer–dimer equilibrium regulates extracellular matrix affinity and tissue diffusion

(2009) Masayo Harada et al.   NATURE GENETICS

Palmitoylation Regulates Epidermal Homeostasis and Hair Follicle Differentiation

(2009) Pleasantine Mill et al.   PLoS Genetics

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

(2008) Mariëlle E.M. Swinkels et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

A genome-wide screen for modifiers of transgene variegation identifies genes with critical roles in development

(2008) Alyson Ashe et al.   GENOME BIOLOGY