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Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.

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Title: Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.
Authors: Marti S; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France.; INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France., Pellet P; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France., Beaupain B; French Registry of Chronic Neutropenia Trousseau Hospital Paris France., Durix L; INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France., Buratti J; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France., Réguerre Y; Department of Pediatric Oncology and Hematology Centre Hospitalo-Universitaire (CHU) de Saint Denis La Réunion France., Aladjidi N; Department of Pediatric Oncology and Hematology CHU Bordeaux Bordeaux France., Azarnoush S; Department of Pediatric Hematology and Immunology Robert Debré Hospital, AP-HP Paris France., Clauin S; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France., Chahla WA; Department of Pediatric Hematology CHU Lille Lille France., Blaison G; Department of Internal Medicine Louis Pasteur Hospital Colmar France., Bertand J; Laboratoire SeqOIA (FMG2025) Paris France., Bodet D; Department of Pediatric Hematology and Oncology CHU de Caen Caen France., Brethon B; Department of Pediatric Hematology and Immunology Robert Debré Hospital, AP-HP Paris France., Chane-Teng J; Sorbonne University, INSERM UMRS 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, AP-HP Paris France., Delafoy M; French Registry of Chronic Neutropenia Trousseau Hospital Paris France., Dupraz C; Department of Pediatric Hematology and Oncology CHU Poitiers Poitiers France., Gandemer V; Department of Pediatric Hematology and Oncology CHU Hôpital Sud Rennes France., Denizeau P; Department of Medical Genetics CHU Rennes Rennes France., Goldenberg A; Department of Medical Genetics CHU Rouen Rouen France., Hirsch P; Department of Biological Hematology, Saint-Antoine Hospital, INSERM, Centre de Recherche Saint-Antoine, CRSA, AP-HP, SIRIC CURAMUS Sorbonne University Paris France., l'Haridon A; Laboratoire SeqOIA (FMG2025) Paris France., Marie-Cardine A; Department of Pediatric Hematology and Oncology Rouen University Hospital Rouen France., Vera G; Department of Medical Genetics CHU Rouen Rouen France., Nelken B; Department of Pediatric Hematology CHU Lille Lille France., Nizery L; Pediatric Department Delafontaine Hospital Saint-Denis France., Nolla M; Department of Pediatric Hematology and Oncology CHU Toulouse Toulouse France., Pasquet M; Department of Pediatric Hematology and Oncology CHU Toulouse Toulouse France., Rosain J; Centre d'étude des Déficits Immunitaires, Necker Hospital, AP-HP Paris France., Terriou L; Department of Internal Medicine and Hematology CHU Lille Lille France., Plo I; INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France., Donadieu J; French Registry of Chronic Neutropenia Trousseau Hospital Paris France.; Department of Pediatric Hematology and Oncology Trousseau Hospital Paris France., Bellanné-Chantelot C; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France.; INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France.
Source: HemaSphere [Hemasphere] 2025 Jun 11; Vol. 9 (6), pp. e70150. Date of Electronic Publication: 2025 Jun 11 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 101740619 Publication Model: eCollection Cited Medium: Internet ISSN: 2572-9241 (Electronic) Linking ISSN: 25729241 NLM ISO Abbreviation: Hemasphere Subsets: PubMed not MEDLINE
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  Data: Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Marti+S%22">Marti S</searchLink>; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France.; INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France.<br /><searchLink fieldCode="AU" term="%22Pellet+P%22">Pellet P</searchLink>; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France.<br /><searchLink fieldCode="AU" term="%22Beaupain+B%22">Beaupain B</searchLink>; French Registry of Chronic Neutropenia Trousseau Hospital Paris France.<br /><searchLink fieldCode="AU" term="%22Durix+L%22">Durix L</searchLink>; INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France.<br /><searchLink fieldCode="AU" term="%22Buratti+J%22">Buratti J</searchLink>; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France.<br /><searchLink fieldCode="AU" term="%22Réguerre+Y%22">Réguerre Y</searchLink>; Department of Pediatric Oncology and Hematology Centre Hospitalo-Universitaire (CHU) de Saint Denis La Réunion France.<br /><searchLink fieldCode="AU" term="%22Aladjidi+N%22">Aladjidi N</searchLink>; Department of Pediatric Oncology and Hematology CHU Bordeaux Bordeaux France.<br /><searchLink fieldCode="AU" term="%22Azarnoush+S%22">Azarnoush S</searchLink>; Department of Pediatric Hematology and Immunology Robert Debré Hospital, AP-HP Paris France.<br /><searchLink fieldCode="AU" term="%22Clauin+S%22">Clauin S</searchLink>; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France.<br /><searchLink fieldCode="AU" term="%22Chahla+WA%22">Chahla WA</searchLink>; Department of Pediatric Hematology CHU Lille Lille France.<br /><searchLink fieldCode="AU" term="%22Blaison+G%22">Blaison G</searchLink>; Department of Internal Medicine Louis Pasteur Hospital Colmar France.<br /><searchLink fieldCode="AU" term="%22Bertand+J%22">Bertand J</searchLink>; Laboratoire SeqOIA (FMG2025) Paris France.<br /><searchLink fieldCode="AU" term="%22Bodet+D%22">Bodet D</searchLink>; Department of Pediatric Hematology and Oncology CHU de Caen Caen France.<br /><searchLink fieldCode="AU" term="%22Brethon+B%22">Brethon B</searchLink>; Department of Pediatric Hematology and Immunology Robert Debré Hospital, AP-HP Paris France.<br /><searchLink fieldCode="AU" term="%22Chane-Teng+J%22">Chane-Teng J</searchLink>; Sorbonne University, INSERM UMRS 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, AP-HP Paris France.<br /><searchLink fieldCode="AU" term="%22Delafoy+M%22">Delafoy M</searchLink>; French Registry of Chronic Neutropenia Trousseau Hospital Paris France.<br /><searchLink fieldCode="AU" term="%22Dupraz+C%22">Dupraz C</searchLink>; Department of Pediatric Hematology and Oncology CHU Poitiers Poitiers France.<br /><searchLink fieldCode="AU" term="%22Gandemer+V%22">Gandemer V</searchLink>; Department of Pediatric Hematology and Oncology CHU Hôpital Sud Rennes France.<br /><searchLink fieldCode="AU" term="%22Denizeau+P%22">Denizeau P</searchLink>; Department of Medical Genetics CHU Rennes Rennes France.<br /><searchLink fieldCode="AU" term="%22Goldenberg+A%22">Goldenberg A</searchLink>; Department of Medical Genetics CHU Rouen Rouen France.<br /><searchLink fieldCode="AU" term="%22Hirsch+P%22">Hirsch P</searchLink>; Department of Biological Hematology, Saint-Antoine Hospital, INSERM, Centre de Recherche Saint-Antoine, CRSA, AP-HP, SIRIC CURAMUS Sorbonne University Paris France.<br /><searchLink fieldCode="AU" term="%22l'Haridon+A%22">l'Haridon A</searchLink>; Laboratoire SeqOIA (FMG2025) Paris France.<br /><searchLink fieldCode="AU" term="%22Marie-Cardine+A%22">Marie-Cardine A</searchLink>; Department of Pediatric Hematology and Oncology Rouen University Hospital Rouen France.<br /><searchLink fieldCode="AU" term="%22Vera+G%22">Vera G</searchLink>; Department of Medical Genetics CHU Rouen Rouen France.<br /><searchLink fieldCode="AU" term="%22Nelken+B%22">Nelken B</searchLink>; Department of Pediatric Hematology CHU Lille Lille France.<br /><searchLink fieldCode="AU" term="%22Nizery+L%22">Nizery L</searchLink>; Pediatric Department Delafontaine Hospital Saint-Denis France.<br /><searchLink fieldCode="AU" term="%22Nolla+M%22">Nolla M</searchLink>; Department of Pediatric Hematology and Oncology CHU Toulouse Toulouse France.<br /><searchLink fieldCode="AU" term="%22Pasquet+M%22">Pasquet M</searchLink>; Department of Pediatric Hematology and Oncology CHU Toulouse Toulouse France.<br /><searchLink fieldCode="AU" term="%22Rosain+J%22">Rosain J</searchLink>; Centre d'étude des Déficits Immunitaires, Necker Hospital, AP-HP Paris France.<br /><searchLink fieldCode="AU" term="%22Terriou+L%22">Terriou L</searchLink>; Department of Internal Medicine and Hematology CHU Lille Lille France.<br /><searchLink fieldCode="AU" term="%22Plo+I%22">Plo I</searchLink>; INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France.<br /><searchLink fieldCode="AU" term="%22Donadieu+J%22">Donadieu J</searchLink>; French Registry of Chronic Neutropenia Trousseau Hospital Paris France.; Department of Pediatric Hematology and Oncology Trousseau Hospital Paris France.<br /><searchLink fieldCode="AU" term="%22Bellanné-Chantelot+C%22">Bellanné-Chantelot C</searchLink>; Department of Medical Genetics, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP) Sorbonne University Paris France.; INSERM UMR1287, Gustave Roussy Paris-Saclay University Villejuif France.
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