Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen, Michaela Auer‐Grumbach, Shinya Matsukawa, +56

Nature Genetics

Pain SyndromeSignal TransductionHealth SciencesPain MedicineMolecular Pain +6

Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2

Anna Marie Mulligan, Fergus J. Couch, Daniel Barrowdale, +175

Breast Cancer Research

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch, +38

Genetics in Medicine

Genetic DisorderGeneticsGenetic EpidemiologyClinical GeneticsPathology +6

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options

Claudia Gruenauer‐Kloevekorn, Saskia Braeutigam, Wolfram Heinritz, +2

Graefe s Archive for Clinical and Experimental Ophthalmology

Ocular DiseaseOphthalmologyCorneal DystrophyMutational SpectrumGlaucoma +5

Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers

Fergus J. Couch, Mia M. Gaudet, Antonis C. Antoniou, +182

Cancer Epidemiology Biomarkers & Prevention

Gene conversion cetween functional trypsinogen genes<i>PRSS1</i>and<i>PRSS2</i>associated with chronic pancreatitis in a six-year-old girl

Niels Teich, Zsófia Nemoda, Henrik Köhler, +4

Human Mutation

Six-year-old GirlGeneticsImmunologyPathologyMolecular Biology +14

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

Denise Horn, Dagmar Wieczorek, Kay Metcalfe, +11

European Journal of Human Genetics

Mental Retardation SyndromeGenetic DisorderGeneticsInherited Metabolic DiseasePathogenesis +6

Update on the <i>ACTG1</i>‐associated Baraitser–Winter cerebrofrontofacial syndrome

Nataliya Di Donato, Alma Kuechler, Samantha A. Schrier Vergano, +15

American Journal of Medical Genetics Part A

A missense mutation in the <i>ZFHX1B</i> gene associated with an atypical Mowat–Wilson syndrome phenotype

Wolfram Heinritz, Christiane Zweier, Ursula G. Froster, +5

American Journal of Medical Genetics Part A

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome

Wenke Seifert, Peter Meinecke, Gabriele Krüger, +4

BMC Medical Genetics