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Publications by Catherine Badens

The SKIV2L RNA Exosome Limits Activation of the RIG-I-like Receptors

Nature Immunology

English

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

American Journal of Human Genetics

English

Delineating the GRIN1 Phenotypic Spectrum

English

Red Blood Cell Gardos Channel (KCNN4):the Essential Determinant of Erythrocyte Dehydration in Hereditary Xerocytosis

English

Rare BANF1 Alleles and Relatively Frequent EMD Alleles Including ‘Healthy Lipid’ Emerin p.D149H in the ExAC Cohort

Frontiers in Cell and Developmental Biology

Developmental Biology

English

Variable Clinical Expression in Patients With Mosaicism forKCNQ2mutations

American Journal of Medical Genetics, Part A

English

Human Mendelian Diseases Related to Abnormalities of the RNA Exosome or Its Cofactors

Intractable and Rare Diseases Research

English