Clinical segmentation in 22q11.2 deletion syndrome: Cognitive impairments and additional genetic load

Autor: Schmock, H., Stevenson, Matt P., Hanebaum, S., Vangkilde, A., Rosengren, A., Weinsheimer, S.M., Skovby, F., Olesen, C., Ullum, H., Baaré, W.F.C., Siebner, H.R., Didriksen, M., Werge, T., Olsen, L., Jepsen, J.R.M.

Publikováno v: In Journal of Psychiatric Research September 2024 177:153-161

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Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.

Autor: Kingsmore SF; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA. Electronic address: skingsmore@rchsd.org., Wright M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Olsen L; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Schultz B; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Protopsaltis L; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Averbuj D; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Blincow E; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Carroll J; Rady Children's Hospital, San Diego, CA 92123, USA; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA., Caylor S; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Defay T; Alexion, Astra Zeneca Rare Disease, Boston, MA 02210, USA., Ellsworth K; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Feigenbaum A; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA., Gover M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Guidugli L; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Hansen C; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Van Der Kraan L; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Kunard CM; Illumina, Inc., San Diego, CA 92122, USA., Kwon H; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Madhavrao L; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Leipzig J; TileDB, Inc., Cambridge, MA 02142, USA., Liang Y; Alexion, Astra Zeneca Rare Disease, Boston, MA 02210, USA., Mardach R; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA., Mowrey WR; Alexion, Astra Zeneca Rare Disease, Boston, MA 02210, USA., Nguyen H; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Niemi AK; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA., Oh D; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Saad M; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA., Scharer G; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Schleit J; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Mehtalia SS; Illumina, Inc., San Diego, CA 92122, USA., Sanford E; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Smith LD; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Willis MJ; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Wigby K; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA., Reimers R; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA; Scripps Research Translational Institute, La Jolla, CA 92037, USA.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Dec 05; Vol. 111 (12), pp. 2643-2667.

Ancient genomics support deep divergence between Eastern and Western Mediterranean Indo-European languages.

Autor: Yediay FE; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark.; Department of Historical Studies, University of Gothenburg, Gothenburg, Sweden., Kroonen G; Leiden University Centre for Linguistics, Leiden University, Leiden, The Netherlands.; Department of Nordic Studies and Linguistics, University of Copenhagen, Copenhagen, Denmark., Sabatini S; Department of Historical Studies, University of Gothenburg, Gothenburg, Sweden., Frei KM; Department of Environmental Archaeology and Materials Science, National Museum of Denmark, Kongens Lyngby, Denmark., Frank AB; Institute for Geology, University of Hamburg, Hamburg, Germany.; Department of Research, Collections and Conservation, Environmental Archaeology and Materials Science, National Museum of Denmark, Kongens Lyngby, Denmark., Pinotti T; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark.; Laboratório de Biodiversidade e Evolução Molecular (LBEM), Universidade Federal de Minas Gerais, Belo Horizonte, Brazil., Wigman A; Leiden University Centre for Linguistics, Leiden University, Leiden, The Netherlands., Thorsø R; Leiden University Centre for Linguistics, Leiden University, Leiden, The Netherlands., Vimala T; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., McColl H; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark.; Department of Historical Studies, University of Gothenburg, Gothenburg, Sweden., Moutafi I; Institute for Pre- and Protohistoric Archaeology and Archaeology of the Roman Provinces, Ludwig-Maximilians-Universität München, Germany.; The M.H. Wiener Laboratory for Archaeological Science, American School of Classical Studies at Athens., Altinkaya I; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Ramsøe A; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Gaunitz C; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Renaud G; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark., Martin AM; Universidad Autonoma de Madrid, Spain., Demeter F; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark.; Eco-anthropologie (EA), Dpt ABBA, Muséum national d'Histoire naturelle, CNRS, Université Paris Cité, Musée de l'Homme 17 place du Trocadéro, 75016 Paris, France., Scorrano G; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark.; Center for Molecular Anthropology for the study of ancient DNA, Department of Biology, University of Rome Tor Vergata, Rome Italy., Canci A; University of Udine, Italy., Fischer P; Department of Historical Studies, University of Gothenburg, Gothenburg, Sweden., Duyar I; Istanbul University., Serhal C; British Museum, London (UK) and University College London (UK)., Varzari A; The National Museum of History of Moldova, Chișinău, Republic of Moldova.; Laboratory of Human Genetics, Chiril Draganiuc Institute of Phthisiopneumology, Chișinău, Republic of Moldova., Türkteki M; Bilecik Şeyh Edebali University, Turkey., O'Shea J; Museum of Anthropological Archaeology, University of Michigan, USA., Rahmstorf L; University of Göttingen, Germany., Polat G; Ege University, Turkey., Atamtürk D; Istanbul University, Turkey., Vinner L; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Omura S; Japanese Institute of Anatolian Archaeology, Turkey., Matsumura K; Japanese Institute of Anatolian Archaeology, Turkey., Cao J; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Valeur Seersholm F; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Morillo Leon JM; Universidad Christian Albrecht de Kiel, Germany., Voutsaki S; Groningen Institute of Archaeology, University of Groningen, The Netherlands., Orgeolet R; Aix Marseille Univ, CNRS, CCJ, Aix-en-Provence, France.; École française d'Athènes., Burke B; University of Victoria, Canada., Herrmann NP; Texas State University, USA., Recchia G; Rome University La Sapienza, Italy., Corazza S; University of Udine, Italy., Borgna E; University of Udine, Italy., Sampò MC; National Research Council, Italy., Trucco F; Italian Heritage board, Italy., Pando AP; Grupo de Investigación TELLUS. Departamento de Prehistoria y Arqueología. Universidad de Sevilla. España., Schjellerup Jørkov ML; Laboratory of Biological Anthropology, ArchaeoScience, Globe Institute, University of Copenhagen, Denmark., Courtaud P; University of Bordeaux, France., Peake R; Institut national de recherches archéologiques préventives (Inrap), France.; UMR 6298, Université de Bourgogne, France., Bao JFG; Spanish National Research Council, Spain., Parditka G; Museum of Anthropological Archaeology, University of Michigan, USA., Stenderup J; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Sjögren KG; Department of Historical Studies, University of Gothenburg, Gothenburg, Sweden., Staring J; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Olsen L; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Deyneko IV; Laboratory of Human Genetics, Chiril Draganiuc Institute of Phthisiopneumology, Chișinău, Republic of Moldova., Pálfi G; Department of Biological Anthropology, University of Szeged, Szeged, Hungary., Aldana PML; Grupo de Investigación TELLUS. Departamento de Prehistoria y Arqueología. Universidad de Sevilla. España., Burns B; Classical Studies, Wellesley College, Boston, USA., Paja L; Department of Biological Anthropology, University of Szeged, Szeged, Hungary., Mühlenbock C; Lund University, Sweden., Cavazzuti C; University of Bologna, Italy., Cazzella A; Rome University La Sapienza, Italy., Lagia A; Ghent University, Department of Archaeology, The Netherlands., Lambrinoudakis V; National and Kapodistrian University of Athens., Kolonas L; Ministry of Culture (Greece)., Rambach J; Greek Archaeological Society.; German Archaeological Institute, Athens, Greece., Sava E; The National Museum of History of Moldova, Chișinău, Republic of Moldova., Agulnikov S; National Agency for Archaeology, Chișinău, Republic of Moldova., Castañeda Fernández V; Universidad de Cádiz, Spain., Broné M; Världskulturmuseerna, Sweden., Peña Romo V; Complutense University, Madrid, Spain., Molina González F; Department of Prehistory and Archaeology, University of Granada, Spain., Cámara Serrano JA; Department of Prehistory and Archaeology, University of Granada, Spain., Jiménez Brobeil S; Department of Legal Medicine, Toxicology and Anthropology University of Granada, Spain., Nájera Molino T; Department of Prehistory and Archaeology, University of Granada, Spain., Rodríguez Ariza MO; Branch of Prehistory, Department of Historical Heritage, University of Jaen, Spain., Galán Saulnier C; Department of Prehistory and Archaeology, Autonomous University of Madrid, Spain., González Martín A; Department of Biology, Autonomous University of Madrid, Spain., Cauwe N; Royal Museums of Art and History Brussels, Belgium., Mordant C; UMR 6298, Université de Bourgogne, France., Roscio M; UMR 8164, Université de Lille, France., Staniaszek L; Institut national de recherches archéologiques préventives (Inrap), France.; UMR 6298, Université de Bourgogne, France., Tafuri MA; Rome University La Sapienza, Italy., Yıldırım T; Department of Archaeology, Ankara University, Ankara, Turkey., Salzani L; Archaeological Superintendence of Verona, Italy., Sand Korneliussen T; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Moreno-Mayar JV; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Allentoft ME; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark.; Trace and Environmental DNA (TrEnD) Laboratory, School of Molecular and Life Sciences, Curtin University, Perth, Australia., Sikora M; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark., Nielsen R; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark.; Departments of Integrative Biology and Statistics, UC Berkeley, USA., Kristiansen K; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark.; Department of Historical Studies, University of Gothenburg, Gothenburg, Sweden., Willerslev E; Lundbeck Foundation GeoGenetics Center, Globe Institute, University of Copenhagen, Copenhagen, Denmark.; GeoGenetics Group, Department of Zoology, University of Cambridge, Cambridge, UK.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Dec 02. Date of Electronic Publication: 2024 Dec 02.

Stern-Brocot arithmetic in dynamics of a biochemical reaction model.

Autor: Folke Olsen L; PhyLife, Institute of Biochemistry and Molecular Biology, University of Southern Denmark, Campusvej 55, DK-5230 Odense M, Denmark.

Publikováno v: Chaos (Woodbury, N.Y.) [Chaos] 2024 Dec 01; Vol. 34 (12).