Shengjiang Tan
Shengjiang Tan
1Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom
2Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
1,2,3,#,
Laëtitia Kermasson
Laëtitia Kermasson
4Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France
4,#,
Christine Hilcenko
Christine Hilcenko
1Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom
2Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
1,2,3,
Vasileios Kargas
Vasileios Kargas
1Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom
2Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
1,2,3,
David Traynor
David Traynor
1Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom
2Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
1,2,3,
Ahmed Z Boukerrou
Ahmed Z Boukerrou
1Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom
2Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
1,2,3,
Norberto Escudero-Urquijo
Norberto Escudero-Urquijo
1Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom
2Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
1,2,3,
Alexandre Faille
Alexandre Faille
1Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom
2Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
1,2,3,
Alexis Bertrand
Alexis Bertrand
4Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France
4,
Maxim Rossmann
Maxim Rossmann
1Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom
2Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
1,2,3,
Beatriz Goyenechea
Beatriz Goyenechea
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
21Present Address: PolyProx Therapeutics, Babraham Research Campus, Cambridge, UK
3,21,
Li Jin
Li Jin
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
22Present Address: MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus, Cambridge, UK
3,22,
Jonathan Moreil
Jonathan Moreil
4Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France
4,
Olivier Alibeu
Olivier Alibeu
5INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
5,
Blandine Beaupain
Blandine Beaupain
6French Neutropenia Registry, Assistance Publique-Hôpitaux de Paris, Trousseau Hospital, Paris, France
6,
Christine Bôle-Feysot
Christine Bôle-Feysot
5INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
5,
Stefano Fumagalli
Stefano Fumagalli
7Institut Necker Enfants Malades, Paris, France
8INSERM, U1151, Université Paris Descartes Sorbonne Cité, Paris, France
7,8,
Sophie Kaltenbach
Sophie Kaltenbach
9Université Paris Descartes, Faculté de Médecine Sorbonne Paris Cité, Paris, France
10Service de cytogénétique, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France
9,10,
Jean-Alain Martignoles
Jean-Alain Martignoles
11Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, AP-HP, Hôpital Saint-Antoine, Hématologie Biologique, Paris, France
11,
Cécile Masson
Cécile Masson
12INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
12,
Patrick Nitschké
Patrick Nitschké
12INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
12,
Mélanie Parisot
Mélanie Parisot
5INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
5,
Aurore Pouliet
Aurore Pouliet
5INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
5,
Isabelle Radford-Weiss
Isabelle Radford-Weiss
9Université Paris Descartes, Faculté de Médecine Sorbonne Paris Cité, Paris, France
10Service de cytogénétique, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France
9,10,
Frédéric Tores
Frédéric Tores
12INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
12,
Jean-Pierre de Villartay
Jean-Pierre de Villartay
4Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France
4,
Mohammed Zarhrate
Mohammed Zarhrate
5INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
5,
Ai Ling Koh
Ai Ling Koh
13Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore, Singapore
14SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore
13,14,
Kong Boo Phua
Kong Boo Phua
13Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore, Singapore
14SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore
13,14,
Bruno Reversade
Bruno Reversade
15Genome Institute of Singapore, A*STAR, Biopolis, Singapore, Singapore
15,
Peter J Bond
Peter J Bond
16Bioinformatics Institute (A*STAR), Singapore, Singapore
17Department of Biological Sciences, National University of Singapore, Singapore, Singapore
16,17,
Christine Bellanné-Chantelot
Christine Bellanné-Chantelot
18Department of Genetics, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France
18,
Isabelle Callebaut
Isabelle Callebaut
19Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris, France
19,
François Delhommeau
François Delhommeau
11Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, AP-HP, Hôpital Saint-Antoine, Hématologie Biologique, Paris, France
11,
Jean Donadieu
Jean Donadieu
20Service d’Hémato-Oncologie Pédiatrique, Assistance Publique-Hôpitaux de Paris Hôpital Trousseau, Registre des neutropénies-Centre de référence des neutropénies chroniques, Paris, France
20,
Alan J Warren
Alan J Warren
1Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom
2Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
1,2,3,✉,
Patrick Revy
Patrick Revy
4Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France
4,✉
1Cambridge Institute for Medical Research, Cambridge Biomedical Campus Keith Peters Building, Hills Rd, Cambridge, United Kingdom
2Wellcome Trust-Medical Research Council Stem Cell Institute, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
3Department of Haematology, University of Cambridge School of Clinical Medicine, Jeffrey Cheah Biomedical Centre, Puddicombe Way, Cambridge Biomedical Campus, Cambridge, UK
4Université de Paris, Imagine Institute, Laboratory of Genome Dynamics in the Immune System, Equipe Labellisée Ligue contre le Cancer, INSERM UMR 1163, Paris, France
5INSERM Unité Mixte de Recherche 1163, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, Genomic Core Facility, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
6French Neutropenia Registry, Assistance Publique-Hôpitaux de Paris, Trousseau Hospital, Paris, France
7Institut Necker Enfants Malades, Paris, France
8INSERM, U1151, Université Paris Descartes Sorbonne Cité, Paris, France
9Université Paris Descartes, Faculté de Médecine Sorbonne Paris Cité, Paris, France
10Service de cytogénétique, Hôpital Necker, Assistance Publique-Hôpitaux de Paris, Paris, France
11Sorbonne Université, Inserm, Centre de Recherche Saint-Antoine, AP-HP, Hôpital Saint-Antoine, Hématologie Biologique, Paris, France
12INSERM Unité Mixte de Recherche 1163, Bioinformatics Platform, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France
13Department of Paediatrics, KK Women’s and Children’s Hospital, Singapore, Singapore
14SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore
15Genome Institute of Singapore, A*STAR, Biopolis, Singapore, Singapore
16Bioinformatics Institute (A*STAR), Singapore, Singapore
17Department of Biological Sciences, National University of Singapore, Singapore, Singapore
18Department of Genetics, Pitié-Salpêtrière Hospital, Sorbonne University, Paris, France
19Sorbonne Université, Muséum National d’Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, IMPMC, Paris, France
20Service d’Hémato-Oncologie Pédiatrique, Assistance Publique-Hôpitaux de Paris Hôpital Trousseau, Registre des neutropénies-Centre de référence des neutropénies chroniques, Paris, France
21Present Address: PolyProx Therapeutics, Babraham Research Campus, Cambridge, UK
22Present Address: MRC Laboratory of Molecular Biology, Francis Crick Avenue, Cambridge Biomedical Campus, Cambridge, UK
Subject terms: Mutation, Next-generation sequencing, Ribosome, Haematological diseases
© The Author(s) 2022
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