Correction: Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases.

Autor: Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Yubero D; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Codina A; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Expósito-Escudero J; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Jou C; Universitat de Barcelona (UB), Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Department of Pathology, Hospital Sant Joan de Déu, Barcelona, Spain., Meyer S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany., Kilicarslan OA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Aleman A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada., Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Luknárová R; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany., Esteve-Codina A; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Gut M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany., Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain., Gagneur J; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany., Topf A; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle Upon Tyne, UK., Lochmüller H; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, ON, Canada., Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain., Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain., Palau F; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. francesc.palau@sjd.es.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain. francesc.palau@sjd.es.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain. francesc.palau@sjd.es.; ERN ITHACA, Barcelona, Spain. francesc.palau@sjd.es.; Division of Pediatrics, Faculty of Medicine and Health Sciences, Universitat de Barcelona (UB), Barcelona, Spain. francesc.palau@sjd.es., Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain. daniel.natera@sjd.es.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Barcelona, Spain. daniel.natera@sjd.es.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain. daniel.natera@sjd.es.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Dec 10. Date of Electronic Publication: 2024 Dec 10.

Imaging findings of children with PTEN-related hamartoma tumor syndrome: a 20-year multicentric pediatric cohort.

Autor: Martinez-Rios C; Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, Department of Radiology, University of Toronto, 555 University Avenue, Toronto, ON, M5G1X8, Canada. claudia.martinezrios@sickkids.ca., De Leon Benedetti LS; Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA., Tierradentro-Garcia LO; Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA., Kilicarslan OA; Medical Imaging Department, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, K1H8L1, Canada., Caro-Dominguez P; Unidad de Radiologia Pediatrica, Servicio de Radiodiagnostico, Hospital Universitario Virgen del Rocio Sevilla, Sevilla, 41013, Spain., Otero HJ; Department of Radiology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA, 19104, USA.

Publikováno v: Pediatric radiology [Pediatr Radiol] 2024 Jun; Vol. 54 (7), pp. 1116-1127. Date of Electronic Publication: 2024 Apr 22.