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Patrick Nitschke

Patrick Nitschke

D-Index & Metrics

Genetics

D-Index
60
Citations
11973
World Ranking
3169
National Ranking
154

Overview

Patrick Nitschke is affiliated with Université Paris Cité in France and works primarily within the fields of Biochemistry, Genetics and Molecular Biology, and Medicine. Their research focuses extensively on several subfields, including Molecular Biology, Genetics, Immunology, Pulmonary and Respiratory Medicine, and Oncology.

Their scientific contributions address key topics such as Genomics and Rare Diseases, RNA modifications and cancer, Renal and related cancers, Genomic variations and chromosomal abnormalities, Genetic Syndromes and Imprinting, RNA regulation and disease, and Genetic and Kidney Cyst Diseases.

Patrick Nitschke has published multiple articles in notable venues, with frequent publications appearing in:

  • Nature Communications
  • Journal of Investigative Dermatology
  • Blood
  • Frontiers in Endocrinology
  • Kidney International

Selected recent papers include:

  • Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect, 2020, Blood
  • Somatic genetic rescue of a germline ribosome assembly defect, 2021, Nature Communications
  • Low Prevalence of GSC Gene Mutations in a Large Cohort of Predominantly Caucasian Patients with Hidradenitis Suppurativa, 2020, Journal of Investigative Dermatology
  • MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia, 2020, Nature Communications
  • Increased diagnostic yield in complex dystonia through exome sequencing, 2020, Parkinsonism & Related Disorders

Frequent collaborators in Patrick Nitschke's research include:

  • Christine Bôle-Feysot
  • Christine Bole
  • Vincent Morinière
  • Guillaume Dorval
  • Mélanie Parisot

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

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

    Nadia Jeremiah;Bénédicte Neven;Matteo Gentili;Isabelle Callebaut

  • 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

  • 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

  • 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

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

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

  • A human immunodeficiency caused by mutations in the PIK3R1 gene

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

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

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

  • 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

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

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

  • 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

  • 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

  • KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

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

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

    Emmanuel Martin;Noé Palmic;Sylvia Sanquer;Christelle Lenoir

  • 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

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

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

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

    Isabelle Perrault;Sophie Saunier;Sylvain Hanein;Emilie Filhol

  • 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

  • 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

  • Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing

    Vincent Morinière;Karin Dahan;Pascale Hilbert;Marieline Lison

Frequent Co-Authors

Christine Bole-Feysot
Christine Bole-Feysot Imagine Institute for Genetic Diseases
Jeanne Amiel
Jeanne Amiel Université Paris Cité
Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Arnold Munnich
Arnold Munnich Necker-Enfants Malades Hospital
Sophie Saunier
Sophie Saunier Université Paris Cité
Tania Attié-Bitach
Tania Attié-Bitach Université Paris Cité
Alain Hovnanian
Alain Hovnanian Imagine Institute for Genetic Diseases
Nathalie Boddaert
Nathalie Boddaert Université Paris Cité
Corinne Antignac
Corinne Antignac Institut Imagine

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