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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
Database: MEDLINE Ultimate
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Description
ISSN:2572-9241
DOI:10.1002/hem3.70150