Patrick Nitschké - Concepedia

Author

Patrick Nitschké

Also Known As

Aurore Pouliet, Ernesto Contro, Faiez Zannad, N. Patrick, Nicolas Cagnard, Nitschke P, Nitschke, Patrick, P Nitschke, P Nitschké, P. Nitschke

206

Publications

17.1K

Citations

H-Index

147

Concepts

All Affiliations

Université Paris Cité Inserm Institut des Maladies Génétiques Imagine Délégation Paris 5 Assistance Publique – Hôpitaux de Paris

About

Patrick Nitschké is an author at Université Paris Cité specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	40	62	7.5K
2	Health Sciences	3	3	382
3	Public Health	3	3	191
4	Natural Sciences	2	2	87
5	Engineering	1	1	17

Patrick Nitschké

111

Publications

11.1K

Citations

H-Index

Page 1

	Year	Citations
Gain-of-function human <i>STAT1</i> mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis Luyan Liu, Satoshi Okada, Xiao‐Fei Kong, The Journal of Experimental Medicine Microbial PathogensImmunodeficienciesInnate Immune SystemImmunologyImmune Regulation	2011	788
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations Nadia Jeremiah, Bénédicte Neven, Matteo Gentili, Journal of Clinical Investigation Innate Immune SystemImmunologyImmune RegulationPathologyImmunologic Mechanism	2014	535
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy Giulia Barcia, Matthew R. Fleming, Aline Deligniere, Nature Genetics Developmental BiologyHyperpolarization (Biology)Ion ChannelsMedicineCell Biology	2012	517
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly Karine Poirier, Nicolas Lebrun, Loïc Broix, Nature Genetics Developmental AnomalyDevelopmental BiologyBrain DevelopmentDevelopmental GeneticsGenetics	2013	488
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells Marjorie Côte, Mickaël Ménager, Agathe Burgess, Journal of Clinical Investigation ImmunologyPathologyCell DeathImmunologic MechanismImmunotherapy	2009	346
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption Shazia Ashraf, Heon Yung Gee, Stéphanie Woerner, Journal of Clinical Investigation GeneticsRenal PathologyImmunologyMolecular GeneticsTranslational Biology	2013	333
FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man Hila Barak, Sung‐Ho Huh, Shuang Chen, Developmental Cell Cell LineageDevelopmental BiologyFgf20 MaintainCell DivisionMedicine	2012	312
A human immunodeficiency caused by mutations in the PIK3R1 gene Marie‐Céline Deau, Lucie Heurtier, Pierre Frange, Journal of Clinical Investigation GeneticsApoptosisImmunologyImmune RegulationPathology	2014	279
MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival Nadine T. Nehme, Jana Pachlopnik Schmid, Franck Debeurme, Blood	2011	278
The human gene damage index as a gene-level approach to prioritizing exome variants Yuval Itan, Lei Shang, Bertrand Boisson, Proceedings of the National Academy of Sciences	2015	271

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