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Autor:
Taylor JP; Department of Teaching & Learning, Washington State University, Pullman, WA, USA., Scott LA; School of Education and Human Development, University of Virginia, Charlottesville, VA, USA., Bruno LP; Kansas University Center on Developmental Disabilities, University of Kansas, Lawrence, KS, USA., Frazier R; School of Education, Virginia Commonwealth University, Richmond, VA, USA., Thoma CA; School of Education, Virginia Commonwealth University, Richmond, VA, USA., Dayton M; School of Education, Virginia Commonwealth University, Richmond, VA, USA.
Publikováno v:
Journal of intellectual disabilities : JOID [J Intellect Disabil] 2024 Sep; Vol. 28 (3), pp. 629-646. Date of Electronic Publication: 2023 May 29.
Autor:
Martin S; Center for Research and Bioethics, Uppsala Universitet, Uppsala, Sweden sylvia.martin@crb.uu.se., Angolini E; Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy., Audi J; Takeda Pharmaceuticals International AG, Opfikon, Zürich, Switzerland., Bertini E; Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy., Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Telethon Institute of Genetics and Medicine, Napoli, Campania, Italy., Coulter J; Pfizer Inc, New York, New York, USA., Ferlini A; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Fortunato F; Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy., Frankova V; Institute for Medical Humanities, First Faculty of Medicine, Charles University, Prague, Czech Republic., Garnier N; Pfizer Inc, New York, New York, USA., Grauman Å; Center for Research and Bioethics, Uppsala Universitet, Uppsala, Sweden., Gross E; EURORDIS, Paris, Ile-de-France, France., Hauber B; Pfizer Inc, New York, New York, USA., Hansson M; Center for Research and Bioethics, Uppsala Universitet, Uppsala, Sweden., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Faculty of Medicine, Freiburg, Germany., Knieling F; Erlangen University Hospital, Erlangen, Bayern, Germany., Kyosovksa G; Bulgarian Association for Personalised Medicine, Sofia, Bulgaria., Ottombrino S; Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy., Novelli A; Research Unit of Neuromuscular and Neurodegenerative Disease, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Lazio, Italy., Raming R; Erlangen University Hospital, Erlangen, Bayern, Germany., Sansen S; Sanofi-Aventis SA, Diegem, Belgium., Saier C; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Freiburg, Germany., Veldwijk J; Erasmus Universiteit Rotterdam, Rotterdam, Netherlands.
Publikováno v:
BMJ open [BMJ Open] 2024 Apr 19; Vol. 14 (4), pp. e081835. Date of Electronic Publication: 2024 Apr 19.
Autor:
Bosch E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Popp B; Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Güse E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Skinner C; Greenwood Genetic Center, Greenwood, SC., van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy., Bruno LP; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy., Granata S; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy., Marcelis C; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands., Baysal Ö; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands., Hartwich D; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany., Holthöfer L; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany., Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Cogne B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany., Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., De Marco P; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ognibene M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital, Atrium Health, Charlotte, NC., Kuismin O; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Cuscó I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain., Martinez-Agosto JA; Departments of Human Genetics, Pediatrics, and Psychiatry, UCLA David Geffen School of Medicine, Los Angeles, CA., Rabani AM; Department of Pediatrics & Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN., Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Close C; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY., Wagner M; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI., Hannibal MC; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Thiffault I; Department of Pediatrics and Pathology, Genomic Medicine Center, Children's Mercy Kansas City and Children's Mercy Research Institute, Kansas City, MO., Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada., McGinnis E; Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL., Millichap J; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL., van de Kamp JM; Department of Human Genetics, Amsterdam UMC, location VU Medical Center, Amsterdam, The Netherlands., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC., Dobson A; Greenwood Genetic Center, Greenwood, SC., Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH., Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Garcia EJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN., Galindo MK; Department of Pediatrics, University of Arizona, Tucson, AZ., Ropers FG; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, The Netherlands., Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hubbard G; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA., Karimov C; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA., Goj G; Vestische Kinder- und Jugendklinik, Datteln, Germany., Bend R; PreventionGenetics, Part of Exact Sciences, Marshfield, WI., Rath J; PreventionGenetics, Part of Exact Sciences, Marshfield, WI., Morrow MM; GeneDx, Gaithersburg, MD., Millan F; GeneDx, Gaithersburg, MD., Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy., Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Kurki M; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA., Stevenson RE; Greenwood Genetic Center, Greenwood, SC., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Zweier M; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland., Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany. Electronic address: georgia.vasileiou@uk-erlangen.de.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100950. Date of Electronic Publication: 2023 Aug 05.
Autor:
Aerden M; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium. mio.aerden@uzleuven.be., Denommé-Pichon AS; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Bonneau D; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Bruel AL; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Delanne J; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Gérard B; Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Mazel B; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Philippe C; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Pinson L; Service de génétique - Centre de Référence Anomalies du Développement CLAD Sud Est, Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France., Prouteau C; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Putoux A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs Centre Est, Hospices Civils de Lyon, Lyon, France., Tran Mau-Them F; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Viora-Dupont É; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France., Vitobello A; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Ziegler A; Department of Biochemistry and Genetics, Angers University Hospital and UMR CNRS 6015-INSERM 1083, Angers, France., Piton A; Hôpitaux Universitaires de Strasbourg, Laboratoire de Diagnostic Génétique, Strasbourg, France., Isidor B; Service de Genetique Medicale, CHU de Nantes & Inserm, CNRS, Universite de Nantes, l'institut du thorax, Nantes, France., Francannet C; Service de Genetique Medicale, CHU de Clermont-Ferrand, Clermont-Ferrand, France., Maillard PY; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Julia S; Service de Génétique Clinique, CHU Toulouse, Toulouse, France., Philippe A; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Schaefer E; Service de Genetique Medicale, IGMA, Hopitaux Universitaires de Strasbourg, Strasbourg, France., Koene S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Hoffer M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Legius E; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Theunis M; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Keren B; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Buratti J; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Charles P; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Courtin T; Genetic Department, Pitié-Salpêtrière Hospital, AP-HP.Sorbonne Université, Paris, France., Misra-Isrie M; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., van Haelst M; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Wieczorek D; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Schmetz A; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Debray FG; Centre Hospitalier Universitaire de Liège, Center of Human Genetics, Liège, Belgium., Bramswig NC; Heinrich-Heine-Universität, Institut für Humangenetik, Düsseldorf, Germany., Atallah I; Lausanne University Hospital, Division of Genetic Medicine, Lausanne, Switzerland., Fodstad H; Lausanne University Hospital, Division of Genetic Medicine, Lausanne, Switzerland., Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), Dudelange, Luxembourg., Almoguera B; Fundación Jiménez Díaz Hospital, Department of Genetics and Genomics, Madrid, Spain., Tahsin-Swafiri S; Fundación Jiménez Díaz Hospital, Department of Genetics and Genomics, Madrid, Spain., Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Molecular Diagnostics and Clinical Genetics Unit (UDMGC), Hospital Universitari Son Espses, IdISBa, Palma, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., López-González V; Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Sección de Genética Médica, Servicio de Pediatría, Murcia, Spain., Kibaek M; Pediatric Department, Odense University Hospital, Odense, Denmark., Tørring PM; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Õunap K; Tartu University Hospital, Genetic and Personalized Medicine Clinic, Department of Clinical Genetics, Tartu, Estonia.; University of Tartu, Institute of Clinical Medicine, Tartu, Estonia., Wojcik M; Department of Pediatrics, Boston Children's Hospital, Divisions of Newborn Medicine and Genetics and Genomics, Boston, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Van Esch H; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium. hilde.vanesch@uzleuven.be.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Apr; Vol. 31 (4), pp. 461-468. Date of Electronic Publication: 2023 Feb 07.
Autor:
Pavinato L; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany., Delle Vedove A; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute for Genetics, University of Cologne, 50674 Cologne, Germany., Carli D; Department of Public Health and Pediatrics, University of Turin, 10126 Turin, Italy.; Pediatric Onco-Hematology, Stem Cell Transplantation and Cell Therapy Division, Regina Margherita Children's Hospital, Città Della Salute e Della Scienza di Torino, 10126 Turin, Italy., Ferrero M; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Experimental Zooprophylactic Institute of Piedmont, Liguria e Valle d'Aosta, 10154 Turin, Italy., Carestiato S; Department of Medical Sciences, University of Turin, 10126 Turin, Italy., Howe JL; The Centre for Applied Genomics, Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Agolini E; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy., Coviello DA; Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., van de Laar I; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands., Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB T2N 1N4, Canada., Di Gregorio E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy., Fabbiani A; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Croci S; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Mencarelli MA; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Bruno LP; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Renieri A; Medical Genetics Unit, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.; Medical Genetics, University of Siena, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Veltra D; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'Aghia Sophia' Children's Hospital, 11527 Athens, Greece., Faivre L; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France.; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France., Mazel B; Centre de référence Anomalies du Développement et Syndromes Malformatifs, Fédération Hospitalo-Universitaire TRANSLAD, CHU Dijon, 21079 Dijon, France., Safraou H; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France., Denommé-Pichon AS; UMR1231 GAD, Inserm-Université Bourgogne-Franche Comté, 21078 Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, 21000 Dijon, France., van Slegtenhorst MA; Clinical Genetics, Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, 3015 CN, Rotterdam, The Netherlands., Giesbertz N; Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Centre Utrecht, 3584 CX, Utrecht, The Netherlands., Childers A; Greenwood Genetic Center, Greenville, SC 29646, USA., Rogers RC; Greenwood Genetic Center, Greenville, SC 29646, USA., Novelli A; Laboratory of Medical Genetics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Scherer SW; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada., Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, 10149 Orbassano, TO, Italy., Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne, Center for Rare Diseases Cologne, University Hospital Cologne, University of Cologne, 50931 Cologne, Germany.; Institute for Genetics, University of Cologne, 50674 Cologne, Germany., Brusco A; Department of Medical Sciences, University of Turin, 10126 Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, 10126 Turin, Italy.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Feb 13; Vol. 146 (2), pp. 534-548.
Autor:
Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Doddato G; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Baldassarri M; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Resciniti S; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Bruttini M; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Mirjam L; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Zguro K; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Furini S; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Ariani F; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 284-288. Date of Electronic Publication: 2022 Oct 09.
Autor:
Loberti L; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Bruno LP; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy., Granata S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Doddato G; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy., Resciniti S; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy., Fava F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Carullo M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy., Rahikkala E; Department of Clinical Genetics, PEDEGO Research Unit, and Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu 90014, Finland., Jouret G; National Center of Genetics (NCG), Laboratoire national de santé (LNS), L-3555 Dudelange, Luxembourg., Menke LA; Amsterdam UMC location University of Amsterdam, Department of Pediatrics, Amsterdam 1100, The Netherlands., Lederer D; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium., Vrielynck P; William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain, Ottignies 1340, Belgium., Ryba L; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic., Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples 80125, Italy., Lasa-Aranzasti A; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain., Cueto-González AM; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain., Trujillano L; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain., Valenzuela I; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain., Tizzano EF; Area of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcellona 08035, Spain., Spinelli AM; Regional Coordinating Center for Rare Diseases, Udine 33100, Italy., Bruno I; Institute for Maternal and Child Health, Trieste 34100, Italy., Currò A; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy., Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy., Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano 39100, Italy., Lopergolo D; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy., Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa 98125, Italy., Aristidou C; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus., Tanteles GA; Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics, Nicosia 1683, Cyprus., Maystadt I; Institut de Pathologie et de Génétique; Centre de Génétique Humaine, Gosselies 6041, Belgium., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi 0162, Georgia., Reimand T; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Lokke H; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Haanpää MK; Department of Genomics and Clinical Genetics, Turku University Hospital, Turku 20500, Finland., Holubová A; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic., Zoubková V; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic., Schwarz M; Department of Biology and Medical Genetics, Charles University - 2nd Faculty of Medicine and University Hospital Motol, Prague 150 00, Czech Republic., Žordania R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia., Muru K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Roht L; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu 50406, Estonia., Tihveräinen A; Department of Child Neurology, Turku University Hospital, Turku 20500, Finland., Teek R; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu 50406, Estonia., Thomson U; Centre for Neurological Diseases, West-Tallinn Central Hospital, Tallinn 10617, Estonia., Atallah I; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne, 1011 Lausanne, Switzerland., Buoni S; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy., Canitano R; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy., Scandurra V; Division of Child and Adolescent Neuropsychiatry, University of Siena, Siena 53100, Italy., Rossetti A; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy., Grosso S; Clinical Paediatrics, Department of Molecular Medicine and Development, University of Siena, Siena 53100, Italy., Battini R; IRCCS Stella Maris Foundation, Department of Developmental Neuroscience, Pisa 98125, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, Pisa 56122, Italy., Baldassarri M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Rizzo CL; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Bruttini M; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Mari F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Ariani F; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Renieri A; Medical Genetics, University of Siena, Siena 53100, Italy.; Med Biotech Hub and Competence Centre, Department of Medical Biotechnologies, University of Siena, Siena 53100, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena 53100, Italy.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2022 Dec 16; Vol. 31 (24), pp. 4131-4142.
Autor:
Bruno LP; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Fava F; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Baldassarri M; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Salvati VM; UOSD Pediatria Cava de' Tirreni- AOU S. Giovanni di Dio e Ruggi d'Aragona, Salerno, Italy., Scandurra V; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy., Canitano R; Division of Child and Adolescent Neuropsychiatry, University Hospital of Siena, Siena, Italy., Valentino F; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Doddato G; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Tita R; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Giliberti A; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Renieri A; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy., Ariani F; Medical Genetics Unit, University of Siena, Policlinico Le Scotte, Viale Bracci, 2, 53100, Siena, Italy. francesca.ariani@unisi.it.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy. francesca.ariani@unisi.it.; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, Siena, Italy. francesca.ariani@unisi.it.
Publikováno v:
Journal of autism and developmental disorders [J Autism Dev Disord] 2022 Oct; Vol. 52 (10), pp. 4605-4607. Date of Electronic Publication: 2021 Oct 28.
Autor:
Khan A; Faculty of Science, Department of Biological Sciences (Zoology), University of Lakki Marwat, Lakki Marwat, Pakistan.; Medical Genetics, University of Siena, Siena, Italy., Bruno LP; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Alomar F; Department of Pharmacology and Toxicology, College of Clinical Pharmacy, Imam Abdulrahman, Bin Faisal University, Dammam, Saudi Arabia., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Khan AA; Faculty of Science, Department of Chemical Sciences, University of Lakki Marwat, Lakki Marwat, Pakistan., Khan A; Department of Pediatrics, Yale School of Medicine, Yal University, New Heaven, CT, United States., Saima; Department of Biotechnology, Abdul Wali Khan University Mardan, Mardan, Pakistan., Fabbiani A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Zguro K; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Furini S; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Mencarelli MA; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Resciniti S; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy., Peña-Guerra KA; Computational Bioscience Research Center (CBRC), Biological and Environmental Science and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Guzmán-Vega FJ; Computational Bioscience Research Center (CBRC), Biological and Environmental Science and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Arold ST; Computational Bioscience Research Center (CBRC), Biological and Environmental Science and Engineering (BESE), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, Montpellier, France., Ariani F; Medical Genetics, University of Siena, Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, Siena, Italy.; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy., Khan SN; Department of Zoology, Kohat University of Science and Technology, Kohat, Pakistan.
Publikováno v:
Frontiers in molecular neuroscience [Front Mol Neurosci] 2022 Jun 17; Vol. 15, pp. 877258. Date of Electronic Publication: 2022 Jun 17 (Print Publication: 2022).