P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants
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| Format: | Article |
| Language: | English |
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Elsevier
2025-01-01
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| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425003255 |
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| author | David Curtis Daryl Scott Seema Lalani Mahshid Azamian Kierstin Keller Alanna Strong Joseph Shen Colette DeFilippo Himanshu Goel Betsy Schmalz Bimal Chaudhari Shelagh Joss Muge Gucsavas-Calikoglu Yael Shiloh-Malawsky Yezmin Perilla-Young Olivia Thompson Neena Champaigne Luigi Chiratti Marco Ferilli Marco Tartaglia Manuela Priolo Radio Clementina Christelle Achkar Koen Gassen Marie-José van den Boogard Tony Roscioli Kim McBride Julie Lauzon Hannes Syryn Martine Cools Elfride De Baere Victor Faundes Gabriela Repetto Sarah Josephi-Taylor Adam Bournazos Sandra Cooper Nichole Owen Xiaonan Zhao |
| author_facet | David Curtis Daryl Scott Seema Lalani Mahshid Azamian Kierstin Keller Alanna Strong Joseph Shen Colette DeFilippo Himanshu Goel Betsy Schmalz Bimal Chaudhari Shelagh Joss Muge Gucsavas-Calikoglu Yael Shiloh-Malawsky Yezmin Perilla-Young Olivia Thompson Neena Champaigne Luigi Chiratti Marco Ferilli Marco Tartaglia Manuela Priolo Radio Clementina Christelle Achkar Koen Gassen Marie-José van den Boogard Tony Roscioli Kim McBride Julie Lauzon Hannes Syryn Martine Cools Elfride De Baere Victor Faundes Gabriela Repetto Sarah Josephi-Taylor Adam Bournazos Sandra Cooper Nichole Owen Xiaonan Zhao |
| author_sort | David Curtis |
| collection | DOAJ |
| format | Article |
| id | doaj-art-c896e3a8b8d2476ca86fc587b959cb02 |
| institution | OA Journals |
| issn | 2949-7744 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj-art-c896e3a8b8d2476ca86fc587b959cb022025-08-20T02:18:47ZengElsevierGenetics in Medicine Open2949-77442025-01-01310228610.1016/j.gimo.2025.102286P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variantsDavid Curtis0Daryl Scott1Seema Lalani2Mahshid Azamian3Kierstin Keller4Alanna Strong5Joseph Shen6Colette DeFilippo7Himanshu Goel8Betsy Schmalz9Bimal Chaudhari10Shelagh Joss11Muge Gucsavas-Calikoglu12Yael Shiloh-Malawsky13Yezmin Perilla-Young14Olivia Thompson15Neena Champaigne16Luigi Chiratti17Marco Ferilli18Marco Tartaglia19Manuela Priolo20Radio Clementina21Christelle Achkar22Koen Gassen23Marie-José van den Boogard24Tony Roscioli25Kim McBride26Julie Lauzon27Hannes Syryn28Martine Cools29Elfride De Baere30Victor Faundes31Gabriela Repetto32Sarah Josephi-Taylor33Adam Bournazos34Sandra Cooper35Nichole Owen36Xiaonan Zhao37Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TXDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TXDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TXDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TXCenter for Mitochondria and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PADivision of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PADivision of Genomic Medicine, Department of Pediatrics, UC Davis Health, Sacramento, CADivision of Genomic Medicine, Department of Pediatrics, UC Davis Health, Sacramento, CASchool of Medicine and Public Health, University of Newcastle, Callaghan, NSWDivision of Genetics and Genomic Medicine, Nationwide Children's HospitalDepartment of Pediatrics, The Ohio State University College of MedicineWest of Scotland Centre for Genomic Medicine, Glasgow, UKDivision of Genetics and Metabolism, Department of Pediatrics University of North Carolina at Chapel HillDepartment of Neurology University of North Carolina at Chapel Hill, School of Medicine, Chapel HillDivision of Genetics and Metabolism, Department of Pediatrics University of North Carolina at Chapel HillDivision of Pediatric Genetics, Medical University of South Carolina, Charleston, SCDivision of Pediatric Genetics, Medical University of South Carolina, Charleston, SCUSD Genetica Medica, Grande Ospedale Metropolitano Bianchi-Melacrino-Morelli, Reggio CalabriaMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San PaoloMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San PaoloMedical Genetics, AORM “A. Cardarelli”, Naples, ItalyMolecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, Viale di San PaoloEpilepsy Genetics Program/Division of Epilepsy and Clinical Neurophysiology, Department of NeurologyDepartment of Genetics, University Medical Center Utrecht, Utrecht, NetherlandsDepartment of Genetics, University Medical Center Utrecht, Utrecht, NetherlandsPrince of Wales Clinical School, Faculty of Medicine & Health, University of New South Wales, SydneyDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, Section of GeneticsAlberta Children's Hospital, Calgary Alberta, CanadaCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, BelgiumDepartment of Pediatric Endocrinology, Ghent University Hospital, Ghent, BelgiumCenter for Medical Genetics Ghent, Ghent University Hospital, Ghent, BelgiumLaboratorio de Genetica y Enfermedades Metabolicas, Instituto de Nutricion y Tecnologia de los AlimeRare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in MedicineDepartment of Clinical Genetics, Children's Hospital Westmead, Sydney Children's Hospitals, NetworkKids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, AustraliaKids Neuroscience Centre, The Children's Hospital at Westmead, Westmead, NSW, AustraliaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TXDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TXhttp://www.sciencedirect.com/science/article/pii/S2949774425003255 |
| spellingShingle | David Curtis Daryl Scott Seema Lalani Mahshid Azamian Kierstin Keller Alanna Strong Joseph Shen Colette DeFilippo Himanshu Goel Betsy Schmalz Bimal Chaudhari Shelagh Joss Muge Gucsavas-Calikoglu Yael Shiloh-Malawsky Yezmin Perilla-Young Olivia Thompson Neena Champaigne Luigi Chiratti Marco Ferilli Marco Tartaglia Manuela Priolo Radio Clementina Christelle Achkar Koen Gassen Marie-José van den Boogard Tony Roscioli Kim McBride Julie Lauzon Hannes Syryn Martine Cools Elfride De Baere Victor Faundes Gabriela Repetto Sarah Josephi-Taylor Adam Bournazos Sandra Cooper Nichole Owen Xiaonan Zhao P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants Genetics in Medicine Open |
| title | P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants |
| title_full | P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants |
| title_fullStr | P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants |
| title_full_unstemmed | P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants |
| title_short | P321: Identifying new genotype/phenotype correlations for individuals carrying deleterious RERE variants |
| title_sort | p321 identifying new genotype phenotype correlations for individuals carrying deleterious rere variants |
| url | http://www.sciencedirect.com/science/article/pii/S2949774425003255 |
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