Patrick Nitschké

17.2k citations
78 papers · 3.7k · h-index 33

Impact in

  • Immunology top 2%
    • Immune Cell Function and Interaction
    • Immunodeficiency and Autoimmune Disorders
    • interferon and immune responses
  • Genetics top 2%
    • Genomics and Rare Diseases
    • Genetics and Neurodevelopmental Disorders

Papers in

  • Molecular Biology 47
    • RNA modifications and cancer 8
    • Renal and related cancers 6
    • RNA and protein synthesis mechanisms 6
    • RNA regulation and disease 6
  • Genetics 36
    • Genomics and Rare Diseases 11
    • Genetics and Neurodevelopmental Disorders 9
    • Genomic variations and chromosomal abnormalities 6
Co-authors
Christine Bôle‐Feysot (30 shared papers)Capucine Pïcard (10 shared papers)Alain Fischer (9 shared papers)Arnold Münnich (14 shared papers)Isabelle Callebaut (5 shared papers)Frédéric Rieux‐Laucat (3 shared papers)Geneviève de Saint Basile (5 shared papers)Laurence Colleaux (8 shared papers)
Journals
Human Mutation (5 papers)Human Molecular Genetics (3 papers)Journal of Investigative Dermatology (3 papers)Journal of Clinical Investigation (3 papers)European Journal of Human Genetics (3 papers)
Partner nations
FranceUnited StatesUnited Kingdom

In The Last Decade

Patrick Nitschké

74 papers receiving 3.7k citations

Peers

Patrick Nitschké
Comparison fields: 5 of 115
  • Immunology 1.1k
  • Genetics 1.0k
  • Hematology 348
  • Molecular Biology 1.9k
  • Genetics 202
Replace Ralf Dressel with:
Ralf Dressel Germany
Domenico Lazzaro Italy
Carol A. Wise United States
Udo Baron Germany
Gudrun Nürnberg Germany
Patrick Salmon Switzerland
Philippe Duquesnoy France
Martin Stehling Germany
Rudolf Jaenisch United States
Valérie Ferreira Netherlands
Patrick Nitschké relative to Ralf Dressel Germany Ralf Dressel's profile →
Citations per field
00.5×2×3×4×
Ralf Dressel · 1×
Citations per year

Countries citing papers authored by Patrick Nitschké

Since Specialization
Citations

This map shows the geographic impact of Patrick Nitschké's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Patrick Nitschké with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Patrick Nitschké more than expected).

Fields of papers citing papers by Patrick Nitschké

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Patrick Nitschké. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Patrick Nitschké. The network helps show where Patrick Nitschké may publish in the future.

Co-authors

The 25 scholars most cited alongside Patrick Nitschké, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Patrick Nitschké Line = papers co-authored together Patrick Nitschké links everyone, so they are left out of the graph.

All Works

20 of 20 papers shown

Showing the 20 most-cited of 78 papers — load more, or switch the sort, to bring in the rest.

#Work
1
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
Journal of Clinical Investigation ·Nadia Jeremiah, Bénédicte Neven, Matteo Gentili, Isabelle Callebaut, Sophia Maschalidi, Marie‐Claude Stolzenberg, Nicolas Goudin, Marie-Louis Frémond, Patrick Nitschké, Thierry Jo Molina, Stéphane Blanche, Capucine Pïcard, Gillian Rice, Yanick J. Crow, Nicolas Manel, Alain Fischer, Brigitte Bader‐Meunier, Frédéric Rieux‐Laucat
2014393
2
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy
Nature Genetics ·Giulia Barcia, Matthew R. Fleming, Aline Deligniere, Valeswara‐Rao Gazula, Maile R. Brown, Maéva Langouët, Haijun Chen, Jack Kronengold, Avinash Abhyankar, Roberta Cilio, Patrick Nitschké, Anna Kamińska, Nathalie Boddaert, Jean‐Laurent Casanova, Isabelle Desguerre, Arnold Münnich, Olivier Dulac, Leonard K. Kaczmarek, Laurence Colleaux, Rima Nabbout
2012335
3
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
Journal of Clinical Investigation ·Marjorie Côte, Mickaël Ménager, Agathe Burgess, Nizar Mahlaoui, Capucine Pïcard, Catherine Schaffner, Fahad AlManjomi, Musa Alharbi, Abdullah Alangari, Françoise Le Deist, Andrew R. Gennery, Nathalie Prince, Astrid Cariou, Patrick Nitschké, Ulrich Blank, Gehad ElGhazali, Gaël Ménasché, Sylvain Latour, Alain Fischer, Geneviève de Saint Basile
2009247
4
FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man
Developmental Cell ·Hila Barak, Sung‐Ho Huh, Shuang Chen, Marc Jeanpierre, Jelena Martinović, Mélanie Parisot, Christine Bôle‐Feysot, Patrick Nitschké, Rémi Salomon, Corinne Antignac, David M. Ornitz, Raphael Kopan
2012216
5
MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival
Blood ·Nadine T. Nehme, Jana Pachlopnik Schmid, Franck Debeurme, Isabelle André‐Schmutz, Apiradee Lim, Patrick Nitschké, Frédéric Rieux‐Laucat, Patrick Lutz, Capucine Pïcard, Nizar Mahlaoui, Alain Fischer, Geneviève de Saint Basile
2011190
6
A human immunodeficiency caused by mutations in the PIK3R1 gene
Journal of Clinical Investigation ·Marie‐Céline Deau, Lucie Heurtier, Pierre Frange, Felipe Suárez, Christine Bôle‐Feysot, Patrick Nitschké, Marina Cavazzana, Capucine Pïcard, Anne Durandy, Alain Fischer, Sven Kracker
2014182
7
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
Nature ·Emmanuel Martin, Noé Palmic, Sylvia Sanquer, Christelle Lenoir, Fabian Hauck, Cédric Mongellaz, Sylvie Fabrega, Patrick Nitschké, Mauro Degli Esposti, Jeremy Schwartzentruber, Naomi Taylor, Jacek Majewski, Nada Jabado, Robert Wynn, Capucine Pïcard, Alain Fischer, Peter D. Arkwright, Sylvain Latour
2014146
8
Human RTEL1 deficiency causes Hoyeraal–Hreidarsson syndrome with short telomeres and genome instability
Human Molecular Genetics ·Tangui Le Guen, Laurent Jullien, Fabien Touzot, Michael Schertzer, Laetitia Gaillard, Mylène Perderiset, Wassila Carpentier, Patrick Nitschké, Capucine Pïcard, Gérard Couillault, Jean Soulier, Alain Fischer, Isabelle Callebaut, Nada Jabado, Arturo Londoño‐Vallejo, Jean‐Pierre de Villartay, Patrick Revy
2013122
9
Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation
Journal of Allergy and Clinical Immunology ·Despina Moshous, Emmanuel Martin, Wassila Carpentier, Apiradee Lim, Isabelle Callebaut, Danielle Canioni, Fabian Hauck, Jacek Majewski, Jeremy Schwartzentruber, Patrick Nitschké, Nicolas Sirvent, Pierre Frange, Capucine Pïcard, Stéphane Blanche, Patrick Revy, Alain Fischer, Sylvain Latour, Nada Jabado, Jean‐Pierre de Villartay
2013103
10
Improving Mutation Screening in Familial Hematuric Nephropathies through Next Generation Sequencing
Journal of the American Society of Nephrology ·Vincent Morinière, Karin Dahan, Pascale Hilbert, Marieline Lison, Saïd Lebbah, Alexandra Topa, Christine Bôle‐Feysot, Solenn Pruvost, Patrick Nitschké, Emmanuelle Plaisier, Bertrand Knebelmann, Marie‐Alice Macher, Laure‐Hélène Noël, Marie-Claire Gübler, Corinne Antignac, Laurence Heidet
2014102
11
HeterozygousRTEL1mutations are associated with familial pulmonary fibrosis
European Respiratory Journal ·Caroline Kannengiesser, Raphaël Borie, Christelle Ménard, Marion Réocreux, Patrick Nitschké, Steven Gazal, Hervé Mal, Camille Taillé, Jacques Cadranel, Hilario Nunès, Dominique Valeyre, J.-F. Cordier, Isabelle Callebaut, Cathérine Boileau, Vincent Cottin, Bernard Grandchamp, Patrick Revy, Bruno Crestani
201593
12
Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis
The American Journal of Human Genetics ·Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline Klein, Esther Kinning, Anne‐Marie Guerrot, Philippe Flahaut, A. Duncombe, Geneviève Baujat, Stanislas Lyonnet, Caroline Thalassinos, Patrick Nitschké, Jean‐Laurent Casanova, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire
201284
13
XYLT1 Mutations in Desbuquois Dysplasia Type 2
The American Journal of Human Genetics ·Catherine Bui, Céline Huber, Beyhan Tüysüz, Yasemin Alanay, Christine Bôle‐Feysot, Jules G. Leroy, Geert Mortier, Patrick Nitschké, Arnold Münnich, Valérie Cormier‐Daire
201481
14
Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders
Molecular Autism ·Lam Son Nguyen, Julien Fregeac, Christine Bôle‐Feysot, Nicolas Cagnard, Anand M. Iyer, Jasper J. Anink, Eleonora Aronica, Olivier Alibeu, Patrick Nitschké, Laurence Colleaux
201873
15
Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature (“FILS syndrome”)
The Journal of Experimental Medicine ·Jana Pachlopnik Schmid, Roxane Lemoine, Nadine T. Nehme, Valérie Cormier‐Daire, Patrick Revy, Franck Debeurme, Marianne Debré, Patrick Nitschké, Christine Bôle‐Feysot, Laurence Legeai‐Mallet, Apiradee Lim, Jean‐Pierre de Villartay, Capucine Pïcard, Anne Durandy, Alain Fischer, Geneviève de Saint Basile
201256
16
AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability
Nature Communications ·Aline Bréchet, Rebecca Buchert, Jochen Schwenk, Sami Boudkkazi, Gerd Zolles, Karine Siquier-Pernet, Irene Schaber, Wolfgang Bildl, Abdelkrim Saadi, Christine Bôle‐Feysot, Patrick Nitschké, André Reis, Heinrich Sticht, Nouriya Al‐Sannaa, Arndt Rolfs, Ákos Kulik, Uwe Schulte, Laurence Colleaux, Rami Abou Jamra, Bernd Fakler
201756
17
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, and MPN domains 1 (MYSM1) in human hematopoiesis and lymphocyte differentiation
Journal of Allergy and Clinical Immunology ·Tangui Le Guen, Fabien Touzot, Isabelle André‐Schmutz, Chantal Lagresle‐Peyrou, Benoît France, Laëtitia Kermasson, Nathalie Lambert, Capucine Pïcard, Patrick Nitschké, Wassila Carpentier, Christine Bôle‐Feysot, Apiradee Lim, Marina Cavazzana, Isabelle Callebaut, Jean Soulier, Nada Jabado, Alain Fischer, Jean‐Pierre de Villartay, Patrick Revy
201554
18
Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect
Blood ·Julien Carvelli, Christelle Pipéroglou, Catherine Farnarier, Frédéric Vely, K. Mazodier, Sandra Audonnet, Patrick Nitschké, Christine Bôle‐Feysot, Mohamed Boucékine, Audrey Cambon, M. Hamidou, Jean‐Robert Harlé, Geneviève de Saint Basile, Gilles Kaplanski
202054
19
Antitumour activity of an inhibitor of miR-34a in liver cancer with β-catenin-mutations
Gut ·Angélique Gougèlet, Chiara Sartor, Laura Bachelot, Cécile Godard, Carmen Marchiol, Gilles Renault, Frédéric Torès, Patrick Nitschké, Catherine Cavard, Benoît Terris, Christine Perret, Sabine Colnot
201552
20
Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis
Neuro-Oncology ·Camille Louvrier, Éric Pasmant, Audrey Briand‐Suleau, Joëlle Cohen, Patrick Nitschké, Juliette Nectoux, Lucie Orhant, Cécile Zordan, Cyril Goizet, Stéphane Goutagny, Dominique Lallemand, Michel Vidaud, Dominique Vidaud, Michel Kalamarides, Béatrice Parfait
201849

About Patrick Nitschké

Patrick Nitschké is a scholar working on Molecular Biology, Genetics, Immunology, Pediatrics, Perinatology and Child Health and Cell Biology, having authored 78 papers that have together received 3.7k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (11 papers), Genetics and Neurodevelopmental Disorders (9 papers), RNA modifications and cancer (8 papers), Immune Cell Function and Interaction (8 papers), Renal and related cancers (6 papers), RNA and protein synthesis mechanisms (6 papers), RNA regulation and disease (6 papers) and Genomic variations and chromosomal abnormalities (6 papers). The work is most often cited by research in Immunology (1.1k citations), Genetics (1.0k citations), Hematology (348 citations), Molecular Biology (1.9k citations) and Genetics (202 citations). Patrick Nitschké has collaborated with scholars based in France, United States and United Kingdom. Frequent co-authors include Christine Bôle‐Feysot, Capucine Pïcard, Alain Fischer, Arnold Münnich, Isabelle Callebaut, Frédéric Rieux‐Laucat, Geneviève de Saint Basile, Laurence Colleaux, Avinash Abhyankar and Jean‐Laurent Casanova. Their work appears in journals such as Human Mutation, Human Molecular Genetics, Journal of Investigative Dermatology, Journal of Clinical Investigation and European Journal of Human Genetics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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