Patrick Nitschké
Inserm(FR)Université Paris Cité(FR)Institut des Maladies Génétiques Imagine(FR)
Publications by Year
Research Areas
Genetic and Kidney Cyst Diseases, Genomics and Rare Diseases, Renal and related cancers, Immunodeficiency and Autoimmune Disorders, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis(2011)792 cited
- → Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations(2014)538 cited
- → De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy(2012)521 cited
- → Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly(2013)491 cited
- → Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells(2009)349 cited
- → ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption(2013)335 cited