Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Autor: Alstrup M; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. Electronic address: MOCHHA@rm.dk., Cesca F; Department of Life Sciences, University of Trieste, Trieste, Italy; IIT Center for Synaptic Neuroscience and Technology, Genova, Italy. Electronic address: fcesca@units.it., Krawczun-Rygmaczewska A; Department of Life Sciences, University of Trieste, Trieste, Italy; IIT Center for Synaptic Neuroscience and Technology, Genova, Italy., López-Menéndez C; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain., Pose-Utrilla J; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain., Castberg FC; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Pediatrics, North Zealand Hospital, Hilleroed, Denmark., Bjerager MO; Department of Pediatrics, North Zealand Hospital, Hilleroed, Denmark., Finnila C; Hudson Alpha Institute for Biotechnology, Huntsville, AL., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Padilla-Lopez S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ., Manwaring L; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO., Keren B; Département de génétique, AP-HP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Afenjar A; APHP. Sorbonne Université, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, UF de génétique clinique, Hôpital Trousseau, Paris, France., Galatolo D; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Scalise R; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Santorelli FM; Molecular Medicine and Neurogenetics, IRCCS Stella Maris Foundation, Calambrone, Pisa, Italy., Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH; Department of Pediatrics, University of Cincinnati, Cincinnati, OH., Vezain M; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France., Martinovic J; Department of Fetal Pathology, AP-HP Antoine Beclere Hospital, University Paris Saclay, Clamart, France., Stevens C; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN., Gowda VK; Department of Pediatric Neurology, Indira Gandhi institute of child health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi institute of child health, Bangalore, India., Thiffault I; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO; University of Missouri Kansas City School of Medicine, Kansas City, MO; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO., Pastinen T; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, MO; University of Missouri Kansas City School of Medicine, Kansas City, MO., Baranano K; Johns Hopkins University, The Johns Hopkins Hospital, Baltimore, MD., Lee A; Department of Pediatrics, Division of Genetics and Genomics, Washington University, Saint Louis, MO., Granadillo J; Department of Pediatrics, Division of Genetics and Genomics, Washington University, Saint Louis, MO., Glassford MR; Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Keegan CE; Department of Pediatrics, Division of Genetics, Metabolism, and Genomic Medicine, University of Michigan, Ann Arbor, MI., Matthews N; WVU Medicine Children's Hospital, Division of Genetics, Morgantown, WV., Saugier-Veber P; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Rouen, France; CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, Rouen, France., Iglesias T; Instituto de Investigaciones Biomédicas Sols-Morreale. Consejo Superior de Investigaciones Científicas-Universidad Autónoma de Madrid, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III. Madrid, Spain. Electronic address: tiglesias@iib.uam.es., Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Nov; Vol. 26 (11), pp. 101219. Date of Electronic Publication: 2024 Jul 18.

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

Autor: Singh S; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA., Zech M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany., Sigafoos AN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Clark KJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Dincer Y; Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany.; Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Martinsried, Germany., Wagner M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany., Humberson JB; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA., Green S; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA., van Gassen K; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Brandt T; GeneDx, Gaithersburg, MD, USA., Schnur RE; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Si Y; GeneDx, Gaithersburg, MD, USA., Mall V; Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany.; kbo-Kinderzentrum München, Munich, Germany., Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany., Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN, USA., Engleman K; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas city, MO, USA., Safina NP; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas city, MO, USA., Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Bryant EM; Ann & Robert H. Lurie Children's Hospital, Epilepsy Center, Chicago, IL, USA., Tan WH; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Granadillo J; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Misra SN; Ann & Robert H. Lurie Children's Hospital, Epilepsy Center, Chicago, IL, USA., Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA., Towner S; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA., Brilstra EH; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Koeleman BPC; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. b.p.c.koeleman@umcutrecht.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Aug; Vol. 22 (8), pp. 1413-1417. Date of Electronic Publication: 2020 May 05.

A Survey on Cyber-Resilience Approaches for Cyber-Physical Systems.

Autor: Segovia-Ferreira, Mariana¹ (AUTHOR) segovia@telecom-sudparis.eu, Rubio-Hernan, Jose¹ (AUTHOR) jose.rubio_hernan@telecom-sudparis.eu, Cavalli, Ana¹ (AUTHOR) Ana.Cavalli@telecom-sudparis.eu, Garcia-Alfaro, Joaquin¹ (AUTHOR) joaquin.garcia-alfaro@acm.org

Publikováno v: ACM Computing Surveys. Aug2024, Vol. 56 Issue 8, p1-37. 37p.

Clinical heterogeneity of polish patients with KAT6B–related disorder.

Autor: Magdalena, Klaniewska¹ (AUTHOR) magdazdzie@gmail.com, Anna, Bolanowska‐Tyszko² (AUTHOR), Anna, Latos‐Bielenska³ (AUTHOR), Aleksandra, Jezela‐Stanek⁴ (AUTHOR), Krzysztof, Szczaluba⁵ (AUTHOR), Malgorzata, Krajewska‐Walasek^4,6,7 (AUTHOR), Elzbieta, Ciara⁶ (AUTHOR), Magdalena, Pelc⁶ (AUTHOR), Dorota, Jurkiewicz⁶ (AUTHOR), Piotr, Stawinski⁵ (AUTHOR), Agnieszka, Zubkiewicz‐Kucharska⁸ (AUTHOR), Małgorzata, Rydzanicz⁵ (AUTHOR), Rafal, Ploski⁵ (AUTHOR), Robert, Smigiel⁸ (AUTHOR) robert.smigiel@umw.edu.pl

Publikováno v: Molecular Genetics & Genomic Medicine. Dec2023, Vol. 11 Issue 12, p1-11. 11p.

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