A novel genomic rearrangement on chr19q13.42 leads to PRPF31-associated retinitis pigmentosa.

Autor: Lu Q; School of Clinical Laboratory Science, Guizhou Medical University, Guiyang, People's Republic of China.; Clinical Research Center, The Affiliated Hospital of Guizhou Medical University, Guiyang, People's Republic of China., Yang J; School of Clinical Laboratory Science, Guizhou Medical University, Guiyang, People's Republic of China.; Clinical Research Center, The Affiliated Hospital of Guizhou Medical University, Guiyang, People's Republic of China., Xiong Y; School of Clinical Laboratory Science, Guizhou Medical University, Guiyang, People's Republic of China.; Clinical Research Center, The Affiliated Hospital of Guizhou Medical University, Guiyang, People's Republic of China., Zhu X; Department of Ophthalmology, Guizhou Provincial People's Hospital, Guiyang, People's Republic of China., Zhang M; Endocrine Metabolism Department, the Affiliated Hospital of Guizhou Medical University, Guiyang, People's Republic of China., Zhou D; Key Laboratory of Endemic and Ethnic Diseases, Ministry of Education & Key Laboratory of Medical Molecular Biology of Guizhou Province, Guizhou Medical University, Guiyang, People's Republic of China.

Publikováno v: Clinical & experimental ophthalmology [Clin Exp Ophthalmol] 2024 Jul; Vol. 52 (5), pp. 595-598. Date of Electronic Publication: 2024 Feb 27.

Fluoxetine Successfully Treats Intracranial Enterovirus E18 Infection in a Patient with CD79a Deficiency Arising from Segmental Uniparental Disomy of Chromosome 19.

Autor: Yu L; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Zhang Y; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Li W; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.; Molecular Medicine Diagnostic and Testing Center, Chongqing Medical University, Chongqing, China., Mao J; Department of Pharmacy, Children's Hospital of Chongqing Medical University, Chongqing, China., Li Y; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Wang H; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Neurodevelopment and Cognitive Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Department of Radiology, Children's Hospital of Chongqing Medical University, Chongqing, China., Li C; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Yang L; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., He W; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Jia Y; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Tang W; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.; Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, No. 136, Zhongshan 2nd Road, Yuzhong District, Chongqing, 400014, China., Zhou L; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China., Zhang Z; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.; Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, No. 136, Zhongshan 2nd Road, Yuzhong District, Chongqing, 400014, China., Jia Y; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Department of Pharmacy, Children's Hospital of Chongqing Medical University, Chongqing, China., Tang X; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China.; Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, No. 136, Zhongshan 2nd Road, Yuzhong District, Chongqing, 400014, China., Zhao X; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China. zhaoxd530@aliyun.com.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China. zhaoxd530@aliyun.com.; Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, No. 136, Zhongshan 2nd Road, Yuzhong District, Chongqing, 400014, China. zhaoxd530@aliyun.com., An Y; National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Children's Hospital of Chongqing Medical University, Chongqing, China. anyf82@aliyun.com.; Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Children's Hospital of Chongqing Medical University, Chongqing, China. anyf82@aliyun.com.; Department of Rheumatology & Immunology, Children's Hospital of Chongqing Medical University, No. 136, Zhongshan 2nd Road, Yuzhong District, Chongqing, 400014, China. anyf82@aliyun.com.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2024 May 28; Vol. 44 (6), pp. 137. Date of Electronic Publication: 2024 May 28.

A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer.

Autor: Srinivasan S; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia.; Centre for Genomic and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia., Kryza T; Mater Research Institute - The University of Queensland, Translational Research Institute, Woolloongabba, Brisbane, QLD, Australia., Bock N; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Tse BWC; Preclinical Imaging Facility, Translational Research Institute, Woolloongabba, Brisbane, QLD, Australia., Sokolowski KA; Preclinical Imaging Facility, Translational Research Institute, Woolloongabba, Brisbane, QLD, Australia., Janaththani P; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia.; Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, Melbourne, VIC, Australia., Fernando A; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia.; Centre for Genomic and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia., Moya L; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Stephens C; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Dong Y; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Röhl J; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Faculty of Health Sciences and Medicine, Bond University, 14 University Drive, Robina, QLD, 4226, Australia., Alinezhad S; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Vela I; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Department of Urology, Princess Alexandra Hospital, Brisbane, Woolloongabba, Brisbane, QLD, Australia., Perry-Keene JL; Pathology Queensland, Sunshine Coast University Hospital Laboratory, Birtinya, Sunshine Coast, QLD, Australia., Buzacott K; Pathology Queensland, Sunshine Coast University Hospital Laboratory, Birtinya, Sunshine Coast, QLD, Australia., Nica R; TissueGnostics GmbH, Vienna, Austria., Gago-Dominguez M; Health Research Institute of Santiago de Compostela (IDIS), Galicia Public Foundation IDIS, SERGAS, Cancer Genetics and Epidemiology Group, Genomic Medicine Group, Santiago de Compostela, Spain., Schleutker J; Institute of Biomedicine, Kiinamyllynkatu 10, FI-20014 University of Turku, Turku, Finland.; Department of Medical Genetics, Genomics, Laboratory Division, Turku University Hospital, PO Box 52, 20521, Turku, Finland., Maier C; Humangenetik Tuebingen, Paul-Ehrlich-Str 23, D-72076, Tuebingen, Germany., Muir K; Division of Population Health, Health Services Research and Primary Care, University of Manchester, Manchester, M13 9PL, UK., Tangen CM; SWOG Statistical Center, Fred Hutchinson Cancer Research Center, Seattle, WA, USA., Gronberg H; Department of Medical Epidemiology and Biostatistics, Karolinska Institute, SE-171 77, Stockholm, Sweden., Pashayan N; Department of Applied Health Research, University College London, London, WC1E 7HB, UK.; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Laboratory, Worts Causeway, Cambridge, CB1 8RN, UK., Albanes D; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, 20892, USA., Wolk A; Institute of Environmental Medicine, Karolinska Institutet, 177 77, Stockholm, Sweden., Stanford JL; Division of Public Health Sciences, Fred Hutchinson Cancer Research Center, Seattle, WA, 98109-1024, USA.; Department of Epidemiology, School of Public Health, University of Washington, Seattle, WA, 98195, USA., Berndt SI; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, 20892, USA., Mucci LA; Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, 02115, USA., Koutros S; Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, 20892, USA., Cussenot O; CeRePP, Tenon Hospital, F-75020, Paris, France.; Sorbonne Universite, GRC n°5, AP-HP, Tenon Hospital, 4 rue de la Chine, F-75020, Paris, France., Sorensen KD; Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensen Boulevard 99, 8200, Aarhus N, Denmark.; Department of Molecular Medicine (MOMA), Aarhus University Hospital, DK-8200, Aarhus N., Denmark., Grindedal EM; Department of Medical Genetics, Oslo University Hospital, 0424, Oslo, Norway., Travis RC; Cancer Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, OX3 7LF, UK., Haiman CA; Center for Genetic Epidemiology, Department of Preventive Medicine, Keck School of Medicine, University of Southern California/Norris Comprehensive Cancer Center, Los Angeles, CA, 90015, USA., MacInnis RJ; Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Grattan Street, Parkville, VIC, 3010, Australia.; Cancer Epidemiology Division, Cancer Council Victoria, 615 St Kilda Road, Melbourne, VIC, 3004, Australia., Vega A; Fundación Pública Galega Medicina Xenómica, Santiago de Compostela, 15706, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago de Compostela, 15706, Spain.; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Santiago de Compostela, Spain., Wiklund F; Department of Medical Epidemiology and Biostatistics, Karolinska Institute, SE-171 77, Stockholm, Sweden., Neal DE; Nuffield Department of Surgical Sciences, University of Oxford, Oxford, England.; University of Cambridge, Department of Oncology, Box 279, Addenbrooke's Hospital, Hills Road, Cambridge, CB2 0QQ, UK.; Cancer Research UK, Cambridge Research Institute, Li Ka Shing Centre, Cambridge, CB2 0RE, UK., Kogevinas M; ISGlobal, Barcelona Institute for Global Health, Barcelona, Spain.; IMIM (Hospital del Mar Research Institute), Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; CIBER Epidemiología y Salud Pública (CIBERESP), 28029, Madrid, Spain., Penney KL; Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital/Harvard Medical School, Boston, MA, 02115, USA., Nordestgaard BG; Faculty of Health and Medical Sciences, University of Copenhagen, 2200, Copenhagen, Denmark.; Department of Clinical Biochemistry, Herlev and Gentofte Hospital, Copenhagen University Hospital, Herlev, 2200, Copenhagen, Denmark., Brenner H; Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), D-69120, Heidelberg, Germany.; German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), D-69120, Heidelberg, Germany.; Division of Preventive Oncology, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 460, 69120, Heidelberg, Germany., John EM; Departments of Epidemiology & Population Health and of Medicine, Division of Oncology, Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, 94304, USA., Gamulin M; School of Medicine, University of Zagreb, Salata 3, 10 000, Zagreb, Croatia., Claessens F; Molecular Endocrinology Laboratory, Department of Cellular and Molecular Medicine, KU Leuven, BE-3000, Belgium., Melander O; Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden., Dahlin A; Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden., Stattin P; Institute of Environmental Medicine, Karolinska Institutet, 177 77, Stockholm, Sweden., Hallmans G; Department of Public Health and Clinical Medicine, Nutritional Research, Umeå University, Umeå, Sweden., Häggström C; The Biobank Research Unit, Umeå University, Umeå, Sweden., Johansson R; The Biobank Research Unit, Umeå University, Umeå, Sweden., Thysell E; Department of Medical Biosciences, Pathology, Umeå University, Umeå, Sweden., Rönn AC; Translational Analysis in Molecular Medicine, Karolinska University Hospital, Huddinge, Sweden., Li W; Icahn Institute for Data Science and Genome Technology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Brown N; Department of Chemical Pathology, Pathology Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane, QLD, Australia., Dimeski G; Department of Chemical Pathology, Pathology Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane, QLD, Australia., Shepherd B; Department of Anatomical Pathology, Pathology Queensland, Princess Alexandra Hospital, Woolloongabba, Brisbane, QLD, Australia., Dadaev T; The Institute of Cancer Research, London, SM2 5NG, UK., Brook MN; The Institute of Cancer Research, London, SM2 5NG, UK., Spurdle AB; Molecular Cancer Epidemiology Laboratory, QIMR Berghofer Medical Research Institute, Herston, Brisbane, QLD, Australia., Stenman UH; Department of Clinical Chemistry and Haematology, University of Helsinki, Helsinki, Finland., Koistinen H; Department of Clinical Chemistry and Haematology, University of Helsinki, Helsinki, Finland.; HUS Diagnostic Center, Helsinki University Hospital, Helsinki, Finland., Kote-Jarai Z; The Institute of Cancer Research, London, SM2 5NG, UK.; Royal Marsden NHS Foundation Trust, London, UK., Klein RJ; Icahn Institute for Data Science and Genome Technology, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Lilja H; Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Surgery (Urology Service) and Medicine (Genitourinary Oncology), Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Department of Translational Medicine, Lund University, Malmö, Sweden., Ecker RC; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia.; TissueGnostics GmbH, Vienna, Austria., Eeles R; The Institute of Cancer Research, London, SM2 5NG, UK.; Royal Marsden NHS Foundation Trust, London, UK., Clements J; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia., Batra J; School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, Queensland (QLD), Australia. jyotsna.batra@qut.edu.au.; Translational Research Institute, Queensland University of Technology, Woolloongabba, Brisbane, QLD, Australia. jyotsna.batra@qut.edu.au.; Centre for Genomic and Personalised Health, Queensland University of Technology, Brisbane, QLD, Australia. jyotsna.batra@qut.edu.au.

Publikováno v: Nature communications [Nat Commun] 2024 Nov 06; Vol. 15 (1), pp. 9587. Date of Electronic Publication: 2024 Nov 06.

Genomic adaptation to small population size and saltwater consumption in the critically endangered Cat Ba langur.

Autor: Zhang L; Primate Genetics Laboratory, German Primate Center, Leibniz Institute for Primate Research, Göttingen, Germany. lzhang@dpz.eu.; International Max Planck Research School for Genome Science (IMPRS-GS), University of Göttingen, Göttingen, Germany. lzhang@dpz.eu.; CAS Key Laboratory of Animal Ecology and Conservation Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China. lzhang@dpz.eu., Leonard N; Cat Ba Langur Conservation Project (CBLCP), Cat Ba National Park, Cat Ba Island, Cat Hai District, Hai Phong Province, Vietnam., Passaro R; Cat Ba Langur Conservation Project (CBLCP), Cat Ba National Park, Cat Ba Island, Cat Hai District, Hai Phong Province, Vietnam., Luan MS; Cat Ba Langur Conservation Project (CBLCP), Cat Ba National Park, Cat Ba Island, Cat Hai District, Hai Phong Province, Vietnam., Van Tuyen P; Cat Ba Langur Conservation Project (CBLCP), Cat Ba National Park, Cat Ba Island, Cat Hai District, Hai Phong Province, Vietnam., Han LTN; Cat Ba Langur Conservation Project (CBLCP), Cat Ba National Park, Cat Ba Island, Cat Hai District, Hai Phong Province, Vietnam., Cam NH; Cat Ba Langur Conservation Project (CBLCP), Cat Ba National Park, Cat Ba Island, Cat Hai District, Hai Phong Province, Vietnam., Vogelnest L; Taronga Conservation Society Australia, Mosman, NSW, Australia., Lynch M; Melbourne Zoo, Zoos Victoria, Parkville, VIC, Australia., Fine AE; Wildlife Conservation Society (WCS), Health Program, New York, NY, USA., Nga NTT; Wildlife Conservation Society (WCS), Vietnam Country Program, Hanoi, Vietnam., Van Long N; Wildlife Conservation Society (WCS), Vietnam Country Program, Hanoi, Vietnam., Rawson BM; World Wildlife Fund for Nature (WWF) International, Gland, Switzerland., Behie A; School of Archaeology and Anthropology, The Australian National University, Canberra, ACT, Australia., Van Nguyen T; Primate Genetics Laboratory, German Primate Center, Leibniz Institute for Primate Research, Göttingen, Germany.; Evolutionary Adaptive Genomics, Institute of Biochemistry and Biology, Department of Science, University of Potsdam, Potsdam, Germany.; Central Institute for Natural Resources and Environmental Studies, Vietnam National University, Hanoi, Vietnam., Le MD; Central Institute for Natural Resources and Environmental Studies, Vietnam National University, Hanoi, Vietnam.; Faculty of Environmental Sciences, University of Science, Vietnam National University, Hanoi, Vietnam., Nadler T; Three Monkeys Wildlife Conservancy, Nho Quan District, Ninh Binh Province, Ninh Binh, Vietnam., Walter L; Primate Genetics Laboratory, German Primate Center, Leibniz Institute for Primate Research, Göttingen, Germany., Marques-Bonet T; Institute of Evolutionary Biology (UPF-CSIC), PRBB, Barcelona, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; CNAG-CRG, Centre for Genomic Regulation (CRG), Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Institut Català de Paleontologia Miquel Crusafont, Universitat Autònoma de Barcelona, Edifici ICTA-ICP, Cerdanyola del Vallès, Spain., Hofreiter M; Evolutionary Adaptive Genomics, Institute of Biochemistry and Biology, Department of Science, University of Potsdam, Potsdam, Germany. michael.hofreiter@uni-potsdam.de., Li M; CAS Key Laboratory of Animal Ecology and Conservation Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing, China. lim@ioz.ac.cn., Liu Z; College of Life Sciences, Capital Normal University, Beijing, China. liuzj6888@cnu.edu.cn., Roos C; Primate Genetics Laboratory, German Primate Center, Leibniz Institute for Primate Research, Göttingen, Germany. croos@dpz.eu.; Gene Bank of Primates, German Primate Center, Leibniz Institute for Primate Research, Göttingen, Germany. croos@dpz.eu.

Publikováno v: Nature communications [Nat Commun] 2024 Oct 02; Vol. 15 (1), pp. 8531. Date of Electronic Publication: 2024 Oct 02.

Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay.

Autor: Rieger M; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Universitätsklinikum Erlangen, Institute of Human Genetics, 91054 Erlangen, Germany., Moutton S; CPDPN, Pôle mère enfant, MSP Bordeaux Bagatelle, Talence, France., Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for MolecularBioMedicine, Medical University of Graz, Austria., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Hessische Straße 4A, 10115 Berlin, Germany., Leheup B; Service de génétique médicale, CHU de Nancy, Nancy, France., Bonnet C; Laboratoire de génétique médicale, CHRU Nancy, Nancy, France., Oneda B; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Reis A; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Universitätsklinikum Erlangen, Institute of Human Genetics, 91054 Erlangen, Germany., Krumbiegel M; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Universitätsklinikum Erlangen, Institute of Human Genetics, 91054 Erlangen, Germany., Hüffmeier U; Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Universitätsklinikum Erlangen, Institute of Human Genetics, 91054 Erlangen, Germany. Electronic address: ulrike.hueffmeier@uk-erlangen.de.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2023 Jan; Vol. 66 (1), pp. 104669. Date of Electronic Publication: 2022 Nov 12.