Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis

JT Wijnen, FH Menko, JH Kleibeuker, +10

Gastroenterology

Cancer RiskCancer PathologyMedicineGeneticsGenetic Epidemiology +7

Microbiome-driven allergic lung inflammation is ameliorated by short-chain fatty acids

Alissa Cait, Michael R. Hughes, Frann Antignano, +10

Mucosal Immunology

AsthmaInflammationDysbiosisAllergyInflammatory Lung Disease +10

Detailed analysis of p53 pathway defects in fludarabine-refractory chronic lymphocytic leukemia (CLL): dissecting the contribution of 17p deletion, TP53 mutation, p53-p21 dysfunction, and miR34a in a prospective clinical trial

Thorsten Zenz, Sonja Häbe, Tina Denzel, +10

Blood

miR-34a as part of the resistance network in chronic lymphocytic leukemia

Thorsten Zenz, Julia Mohr, Eric Eldering, +9

Blood

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies

Nicola Glöckle, Susanne Kohl, Julia Mohr, +12

European Journal of Human Genetics

Ocular DiseasePanel-based Next GenerationMendelian DisorderOphthalmologyGenetic Disorder +7

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis

Julien H. Park, Christiane Elpers, Janine Reunert, +11

Brain

Frequent genes in rare diseases: panel‐based next generation sequencing to disclose causal mutations in hereditary neuropathies

Maike F. Dohrn, Nicola Glöckle, Lejla Mulahasanovic, +30

Journal of Neurochemistry

Hereditary NeuropathiesFrequent GenesGeneticsPathologyDisease Gene Identification +15

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, +89

The American Journal of Human Genetics

α-Linolenic Acid-Rich Diet Influences Microbiota Composition and Villus Morphology of the Mouse Small Intestine

Hristo Todorov, Bettina Kollar, Franziska Bayer, +13

Nutrients

Phenotype variations of retinal dystrophies caused by mutations in the <i><scp>RLBP</scp>1</i> gene

Stephanie Hipp, Gergely Zobor, Nicola Glöckle, +5

Acta Ophthalmologica