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In Genetics in Medicine March 2025 27(3)

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Atallah I; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Cisarova K; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Guenot C; Materno-Fetal and Obstetrics Research Unit, Department of Obstetrics and Gynecology, University Hospital, Lausanne, Switzerland.; Dubruc E; Service of Clinical Pathology, Institute of Pathology, Lausanne University Hospital, Lausanne, Switzerland.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Campos-Xavier B; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Unger S; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Quinodoz M; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031, Basel, Switzerland.; Department of Ophthalmology, University of Basel, 4031, Basel, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, LE1 7RH, UK.; Rutz S; Department of Biochemistry University of Zurich, 8057, Zurich, Switzerland.; Peter V; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031, Basel, Switzerland.; Department of Ophthalmology, University of Basel, 4031, Basel, Switzerland.; Garavelli L; Clinical Genetics Unit, Azienda USL-IRCCS of Reggio Emilia, 42123, Reggio Emilia, Italy.; Innes AM; Department of Medical Genetics and Pediatrics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, T3B 6A8, Canada.; Lehmann EF; Department of Biochemistry University of Zurich, 8057, Zurich, Switzerland.; Kellenberger S; Department of biomedical Sciences, University of, Lausanne, 1011, Lausanne, Switzerland.; Peng Z; Department of biomedical Sciences, University of, Lausanne, 1011, Lausanne, Switzerland.; Barone A; Pediatric Onco-Hematology Unit, Children's Hospital, Parma University Hospital, Parma, Italy.; Campos-Xavier B; Division of Genetic Medicine, Lausanne University Hospital (CHUV), and University of Lausanne, 1011, Lausanne, Switzerland.; Unger S; Division of Genetic Medicine, Lausanne University Hospital (CHUV), and University of Lausanne, 1011, Lausanne, Switzerland.; Genetica AG, Zurich and Lausanne, Switzerland.; Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel (IOB), 4031, Basel, Switzerland. carlo.rivolta@iob.ch.; Department of Ophthalmology, University of Basel, 4031, Basel, Switzerland. carlo.rivolta@iob.ch.; Department of Genetics and Genome Biology, University of Leicester, Leicester, LE1 7RH, UK. carlo.rivolta@iob.ch.; Dutzler R; Department of Biochemistry University of Zurich, 8057, Zurich, Switzerland. dutzler@bioc.uzh.ch.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV), and University of Lausanne, 1011, Lausanne, Switzerland. asuperti@unil.ch.; Genetica AG, Zurich and Lausanne, Switzerland. asuperti@unil.ch.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

Elhady G; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Amin AK; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Iturrate A; Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain.; CIBERER-Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; El-Dessouky S; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Nevado J; CIBERER-Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Campos-Xavier B; Service of Medical Genetics, Laboratoire de Maladies Moléculaires, CHUV, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.; Matsa LS; Genomic Precision Diagnostic Department, Igenomix, Valencia, Spain.; Giunta C; Connective Tissue Unit, Division of Metabolism and Children's Research Center, University Children's Hospital Zurich and University of Zurich, Zurich, Switzerland.; Lapunzina P; CIBERER-Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Ruiz-Perez VL; Instituto de Investigaciones Biomédicas Sols-Morreale, Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain.; CIBERER-Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.; Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

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Nature Genetics, 49, 6, pp. 969-969
Nature Genetics

Arlabosse T; Pediatric Immuno‑Rheumatology of Western Switzerland, Pediatrics Service, Women‑Mother‑Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; Riccio O; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Schnider C; Pediatric Immuno‑Rheumatology of Western Switzerland, Pediatrics Service, Women‑Mother‑Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Angelini F; Pediatric Immuno‑Rheumatology of Western Switzerland, Pediatrics Service, Women‑Mother‑Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Perreau M; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Rochat I; Pediatric Pulmonology and Cystic Fibrosis Unit, Pediatrics Service, Women‑Mother‑Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Campos-Xavier B; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Héritier S; Division of Pediatric Hematology and Oncology, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Pereira A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; Distefano M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Sante Et de La Recherche Medicale (INSERM), U1163, Paris, France.; Paris Cite University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Children Hospital, Paris, France.; Roelens M; Paris Cite University, Imagine Institute, Paris, France.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Children Hospital, Paris, France.; Borie R; Department of Medicine, Bichat Hospital, AP-HP, Paris, France.; Le Brun M; Department of Pulmonology A, Reference Center for Rare Pulmonary Diseases, Bichat Hospital, AP-HP, Paris, France.; Crestani B; 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Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE; PubMed not MEDLINE

Arlabosse T; Pediatric Immuno-Rheumatology of Western Switzerland, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Riccio O; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Schnider C; Pediatric Immuno-Rheumatology of Western Switzerland, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Angelini F; Pediatric Immuno-Rheumatology of Western Switzerland, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Perreau M; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Rochat I; Pediatric Pulmonology and Cystic Fibrosis Unit, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Campos-Xavier B; Division of Genetic Medicine, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.; Héritier S; Division of Pediatric Hematology and Oncology, Armand Trousseau Hospital, Sorbonne University, Paris, France.; Pereira A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Deswarte C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Lévy R; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Distefano M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Children Hospital, Paris, France.; Roelens M; Paris Cité University, Imagine Institute, Paris, France.; Study Center for Primary Immunodeficiencies, AP-HP, Necker Children Hospital, Paris, France.; Borie R; Department of Medicine, Bichat Hospital, AP-HP, Paris, France.; Le Brun M; Department of Pulmonology A, Reference Center for Rare Pulmonary Diseases, Bichat Hospital, AP-HP, Paris, France.; Crestani B; Department of Pulmonology A, Reference Center for Rare Pulmonary Diseases, Bichat Hospital, AP-HP, Paris, France.; Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, 75015, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, 10065, USA.; Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Hofer M; Pediatric Immuno-Rheumatology of Western Switzerland, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Fieschi C; Department of Clinical Immunology, Paris Cité University, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.; Theodoropoulou K; Pediatric Immuno-Rheumatology of Western Switzerland, Pediatrics Service, Women-Mother-Child Department, Lausanne University Hospital, Lausanne, Switzerland.; Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de La Santé Et de La Recherche Médicale (INSERM), U1163, Paris, France. vivien.beziat@inserm.fr.; Paris Cité University, Imagine Institute, Paris, France. vivien.beziat@inserm.fr.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. vivien.beziat@inserm.fr.; Candotti F; Division of Immunology and Allergy, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland. fabio.candotti@chuv.ch.

Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

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