MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Autor: Karayol R; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Borroto MC; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Namasivayam A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Reilly J; Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, ON N6A 3K7, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Shvedunova M; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Petersen AK; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA., Magnussen K; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland., Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Mulligan MR; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Poke G; Genetic Health Service New Zealand, Wellington, New Zealand., Abu-El-Haija A; Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Duis J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Hannig V; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Barkoudah E; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Hauser NS; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA., van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Hamiel U; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., Henig N; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel., Baris Feldman H; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Lei Y; Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA., Todorova A; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Yordanova R; Department of pediatrics 'Prof. Ivan Andreev', Medical university - Plovdiv, Plovdiv, Bulgaria; Department of Pediatrics, University Hospital 'St. George', Plovdiv, Bulgaria., Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Rogac M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Peron A; SOC Genetica Medica, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', Università degli Studi di Firenze, Florence, Italy., Iascone M; Department of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Canevini MP; Epilepsy Center - Sleep Medicine Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Department of Health Sciences, University of Milan, Milan, Italy., Friedman J; Departments of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA., Reyes IA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA., Kierstein J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, UC Davis, Sacramento, CA 95817, USA., Ahmed FN; Division of Genomic Medicine, Department of Pediatrics, UC Davis, Sacramento, CA 95817, USA., Mao X; National Health Commission Key Laboratory of Birth Defects Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Hunan, China; Nanhua University, Chiayi County, Taiwan., Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, German., Treu AB; Epilepsy Center Kleinwachau, Radeberg, Germany., Quilichini J; Service de Médecine Génomique des maladies de système et d'organe, APHP, Centre Université Paris Cité, Paris, France., Bourgois A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France., Chatron N; Department of Genetics, Lyon University Hospital, Lyon, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Januel L; Department of Genetics, Lyon University Hospital, Lyon, France., Rougeot C; Department of Neuropediatrics, Lyon University Hospital, Lyon, France., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Rousseau J; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada., Myers KA; Child Health and Human Development, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca., Akhtar A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany. Electronic address: akhtar@ie-freiburg.mpg.de., Campeau PM; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1330-1351. Date of Electronic Publication: 2024 May 29.

Synergies and trade-offs between provisioning and climate-regulating ecosystem services in reindeer herding ecosystems.

Autor: Bjerke JW; Norwegian Institute for Nature Research (NINA), FRAM - High North Research Centre for Climate and the Environment, Tromsø, Norway. Electronic address: jarle.bjerke@nina.no., Magnussen K; Menon Centre for Environmental and Resource Economics, Oslo, Norway., Bright RM; Department of Forests and Climate, Division of Forestry and Forest Resources, Norwegian Institute of Bioeconomy Research (NIBIO), Ås, Norway., Navrud S; School of Economics and Business, Norwegian University of Life Sciences (NMBU), Ås, Norway., Erlandsson R; Norwegian Institute for Nature Research (NINA), FRAM - High North Research Centre for Climate and the Environment, Tromsø, Norway., Finne EA; Norwegian Institute for Nature Research (NINA), FRAM - High North Research Centre for Climate and the Environment, Tromsø, Norway; Department of Geosciences, University of Oslo, Oslo, Norway., Tømmervik H; Norwegian Institute for Nature Research (NINA), FRAM - High North Research Centre for Climate and the Environment, Tromsø, Norway.

Publikováno v: The Science of the total environment [Sci Total Environ] 2024 Jun 01; Vol. 927, pp. 171914. Date of Electronic Publication: 2024 Mar 28.

The effect of donation frequency on donor health in blood donors donating plasma by plasmapheresis: study protocol for a randomized controlled trial.

Autor: Haugen M; Department of Immunology and Transfusion Medicine, Innlandet Hospital Trust, Anders Sandvigs Gate 17, 2609, Lillehammer, Norway. morten.haugen@sykehuset-innlandet.no.; Faculty of Medicine, University of Oslo, Oslo, Norway. morten.haugen@sykehuset-innlandet.no., Magnussen K; Department of Immunology and Transfusion Medicine, Innlandet Hospital Trust, Anders Sandvigs Gate 17, 2609, Lillehammer, Norway., Aarsland TE; Women's Clinic, Innlandet Hospital Trust, Lillehammer, Norway.; Department of Global Public Health and Primary Care, Center of International Health, University of Bergen, Bergen, Norway., Nissen-Meyer LSH; Department of Immunology, Oslo University Hospital, Oslo, Norway., Strand TA; Department of Research, Innlandet Hospital Trust, Lillehammer, Norway.

Publikováno v: Trials [Trials] 2024 Mar 11; Vol. 25 (1), pp. 175. Date of Electronic Publication: 2024 Mar 11.

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology.

Autor: Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. Henry.oppermann@medizin.uni-leipzig.de., Marcos-Grañeda E; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain., Weiss LA; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain., Gurnett CA; Department of Neurology, Washington University in St Louis, St Louis, MO, USA., Jelsig AM; Dpt. of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Vineke SH; Dpt. of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Mercier S; Service de Génétique Médicale, CHU de Nantes, Nantes, France.; L'institut du thorax, Inserm, Cnrs, Univ Nantes, Nantes, France., Magnussen K; Randall Children's Hospital at Legacy Emanuel, Portland, OR, USA., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Hashim M; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Race S; BC Children's Hospital, University of British Columbia, Vancouver, BC, Canada., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Frazier Z; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Maiwald R; MVZ for Coagulation Diagnostics and Medical Genetics Cologne, ÜBAG Zotz/Klimas, Cologne, Germany., Pergande M; MVZ Düsseldorf Zentrum, ÜBAG Zotz/Klimas, Düsseldorf, Germany., Milani D; Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico, Milan, Italy., Rinelli M; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy., Levy J; Genetics Department, CHU Robert-Debré, AP-HP, Paris, France., Krey I; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Fontana P; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Lonardo F; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy., Riley S; Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA., Kretzer J; Department of Pediatrics, University of Maryland School of Medicine, Baltimore, MD, USA., Rankin J; Department of Clinical Genetics, Royal Devon University Healthcare NHS Trust, Exeter, UK., Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA., Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Hospital of Wisconsin, Milwaukee, WI, USA., Reuter MS; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Iascone M; Laboratory of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Weis D; Department of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University, Linz, Austria., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Hansen LK; HC Andersen Childrens Hospital, Odense University Hospital, Odense, Denmark., Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany., Noble N; Blank Children's Developmental Center, Unity Point Health, Des Moines, IA, USA., Gardham A; North West Thames Regional Genetic Service, North West London Hospitals, London, UK., Tenney J; Division of Medical Genetics, University of California, San Francisco, CA, USA., Rathore G; Dvision of Pediatric Neurology, University of Nebraska Medical Center, Omaha, NE, USA., Beck-Woedl S; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Pavlidou DC; Division of Genetic Medicine, Lausanne Universitary Hospital and University of Lausanne, Lausanne, Switzerland., Atallah I; Division of Genetic Medicine, Lausanne Universitary Hospital and University of Lausanne, Lausanne, Switzerland., Vodopiutz J; Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Comprehensive Center for Pediatrics, Medical University of Vienna, Vienna, Austria.; Vienna Bone and Growth Center, Vienna, Austria., Janecke AR; Department of Pediatrics, Medical University of Innsbruck, Innsbruck, Austria.; Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lesmann H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Institut für Humangenetik, Universitätsklinikum Bonn, Universität Bonn, Bonn, Germany., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Nieto M; Department of Cellular and Molecular Biology, Centro Nacional de Biotecnología, Consejo Superior de Investigaciones Científicas (CNB-CSIC), Campus de Cantoblanco, Madrid, Spain. mnlopez@cnb.csic.es., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital-Rigshospitalet, Copenhagen, Denmark. zeynep.tumer@regionh.dk.; Department of Clinical Medicin, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark. zeynep.tumer@regionh.dk., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Nov; Vol. 31 (11), pp. 1251-1260. Date of Electronic Publication: 2023 Aug 30.

A novel hepcidin mutation.

Autor: Praeger-Jahnsen L; Dept of Clinical Biochemistry, Bispebjerg Hospital, Copenhagen, Denmark; Center for Translational Research, Bispebjerg Hospital, Copenhagen, Denmark., Magnussen K; Blood centre and Medical Biochemistry, Innlandet Hospital Trust, Lillehammer, Norway., Schiødt FV; Digestive Disease Centre K, Bispebjerg Hospital, University of Copenhagen, Denmark., Therkildsen RC; Digestive Disease Centre K, Bispebjerg Hospital, University of Copenhagen, Denmark., Jørgensen N; Department of Growth and Reproduction, Copenhagen University Hospital, Rigshospitalet Copenhagen, Denmark; The International Research and Research Training Centre in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Dept of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Friis-Hansen L; Dept of Clinical Biochemistry, Bispebjerg Hospital, Copenhagen, Denmark; Center for Translational Research, Bispebjerg Hospital, Copenhagen, Denmark; Dept of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Dept of Clinical Research, Faculty of Health Science, University of Southern Denmark, Odense, Denmark. Electronic address: lfriis-hansen@health.sdu.dk.

Publikováno v: Transfusion clinique et biologique : journal de la Societe francaise de transfusion sanguine [Transfus Clin Biol] 2023 Aug; Vol. 30 (3), pp. 335-340. Date of Electronic Publication: 2023 Mar 15.