Patrick Nitschke

Overview

Best Publications

• Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

  Luyan Liu;Satoshi Okada;Xiao Fei Kong;Alexandra Y. Kreins

  881
  Citations

• Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies

  Muredach P Reilly;Mingyao Li;Jing He;Jane F Ferguson

  700
  Citations

• Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

  Nadia Jeremiah;Bénédicte Neven;Matteo Gentili;Isabelle Callebaut

  568
  Citations

• De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.

  Giulia Barcia;Matthew R Fleming;Aline Deligniere;Valeswara-Rao Gazula

  547
  Citations

• Mutations in TUBG1 , DYNC1H1 , KIF5C and KIF2A cause malformations of cortical development and microcephaly

  Karine Poirier;Nicolas Lebrun;Nicolas Lebrun;Loic Broix;Loic Broix;Guoling Tian

  520
  Citations

• Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.

  Marjorie Côte;Mickaël M. Ménager;Agathe Burgess;Nizar Mahlaoui

  419
  Citations

• ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

  Shazia Ashraf;Heon Yung Gee;Stephanie Woerner;Stephanie Woerner;Letian X. Xie

  369
  Citations

• A human immunodeficiency caused by mutations in the PIK3R1 gene

  Marie-Céline Deau;Lucie Heurtier;Pierre Frange;Felipe Suarez

  346
  Citations

• Fgf9 and FGF20 maintain the stemness of nephron progenitors in mice and man

  Hila Barak;Sung Ho Huh;Shuang Chen;Cécile Jeanpierre;Cécile Jeanpierre

  310
  Citations

• MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

  Nadine T. Nehme;Nadine T. Nehme;Jana Pachlopnik Schmid;Jana Pachlopnik Schmid;Franck Debeurme;Franck Debeurme;Isabelle André-Schmutz;Isabelle André-Schmutz

  292
  Citations

• The human gene damage index as a gene-level approach to prioritizing exome variants

  Yuval Itan;Lei Shang;Bertrand Boisson;Etienne Patin;Etienne Patin

  291
  Citations

• Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

  Jan Halbritter;Albane A. Bizet;Miriam Schmidts;Jonathan D. Porath

  276
  Citations

• Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

  Cecilie Bredrup;Sophie Saunier;Sophie Saunier;MacHteld M. Oud;Torunn Fiskerstrand;Torunn Fiskerstrand

  265
  Citations

• KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

  Audrey Putoux;Sophie Thomas;Karlien L.M. Coene;Erica E. Davis

  260
  Citations

• CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

  Emmanuel Martin;Noé Palmic;Sylvia Sanquer;Christelle Lenoir

  246
  Citations

• Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias

  Carine Le Goff;Clémentine Mahaut;Lauren W Wang;Slimane Allali

  229
  Citations

• Type I interferon-mediated autoinflammation due to DNase II deficiency

  Mathieu P. Rodero;Alessandra Tesser;Eva Bartok;Gillian I. Rice

  223
  Citations

• Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

  Isabelle Perrault;Sophie Saunier;Sylvain Hanein;Emilie Filhol

  217
  Citations

• Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability

  Tangui Le Guen;Tangui Le Guen;Laurent Jullien;Laurent Jullien;Fabien Touzot;Fabien Touzot;Michael Schertzer

  210
  Citations

• Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

  Tenzin Gayden;Fernando E. Sepulveda;Dong-Anh Khuong-Quang;Dong-Anh Khuong-Quang;Jonathan Pratt

  192
  Citations