المؤلفون: Picard M; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Scott-Boyer MP; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Bodein A; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Leclercq M; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Prunier J; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Périn O; Digital Transformation and Innovation Department, L'Oréal Advanced Research, Aulnay-sous-bois, France., Droit A; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada.

المصدر: Computational and structural biotechnology journal [Comput Struct Biotechnol J] 2024 Jun 15; Vol. 24, pp. 464-475. Date of Electronic Publication: 2024 Jun 15 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology Country of Publication: Netherlands NLM ID: 101585369 Publication Model: eCollection Cited Medium: Print ISSN: 2001-0370 (Print) Linking ISSN: 20010370 NLM ISO Abbreviation: Comput Struct Biotechnol J Subsets: PubMed not MEDLINE

المؤلفون: Quitté L; Centre de Recherche du CHU de Québec, Université Laval, Québec, QC G1V 0A6, Canada., Leclercq M; Centre de Recherche du CHU de Québec, Université Laval, Québec, QC G1V 0A6, Canada., Prunier J; Centre de Recherche du CHU de Québec, Université Laval, Québec, QC G1V 0A6, Canada., Scott-Boyer MP; Centre de Recherche du CHU de Québec, Université Laval, Québec, QC G1V 0A6, Canada., Moroy G; Université Paris Cité, CNRS, INSERM, Unité de Biologie Fonctionnelle et Adaptative, F-75013 Paris, France., Droit A; Centre de Recherche du CHU de Québec, Université Laval, Québec, QC G1V 0A6, Canada.; Département de Médecine Moléculaire, Université Laval, Québec, QC G1V 0A6, Canada.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 13; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Machine Learning* , SARS-CoV-2*/metabolism , SARS-CoV-2*/genetics , Angiotensin-Converting Enzyme 2*/metabolism , Angiotensin-Converting Enzyme 2*/chemistry , Spike Glycoprotein, Coronavirus*/metabolism , Spike Glycoprotein, Coronavirus*/chemistry , Spike Glycoprotein, Coronavirus*/genetics , Protein Binding* , Molecular Dynamics Simulation* , COVID-19*/virology , COVID-19*/metabolism, Humans ; Binding Sites ; Mutation ; Protein Interaction Domains and Motifs

SCR Organism: SARS-CoV-2 variants

المؤلفون: Bergum OET; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology (NTNU), Trondheim, Norway., Singleton AH; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology (NTNU), Trondheim, Norway., Røst LM; Department of Biotechnology and Food Science, Norwegian University of Science and Technology (NTNU), Trondheim, Norway., Bodein A; Department of Molecular Medicine, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Scott-Boyer MP; Department of Molecular Medicine, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Rye MB; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.; Clinic of Surgery, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway.; Clinic of Laboratory Medicine, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway.; BioCore - Bioinformatics Core Facility, Norwegian University of Science and Technology (NTNU), Trondheim, Norway., Droit A; Department of Molecular Medicine, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Bruheim P; Department of Biotechnology and Food Science, Norwegian University of Science and Technology (NTNU), Trondheim, Norway., Otterlei M; Department of Clinical and Molecular Medicine, Norwegian University of Science and Technology (NTNU), Trondheim, Norway.; Clinic of Laboratory Medicine, St. Olavs Hospital, Trondheim University Hospital, Trondheim, Norway.

المصدر: Frontiers in microbiology [Front Microbiol] 2024 Mar 26; Vol. 15, pp. 1373344. Date of Electronic Publication: 2024 Mar 26 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101548977 Publication Model: eCollection Cited Medium: Print ISSN: 1664-302X (Print) Linking ISSN: 1664302X NLM ISO Abbreviation: Front Microbiol Subsets: PubMed not MEDLINE

المؤلفون: Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bie I, Wegler M, Jamra RA, Kamphausen SB, Bothe V, Busch LM, Völker U, Hammer E, Wende K, Cogné B, Isidor B, Meiler J, Bosc-Rosati A, Marcoux J, Bousquet MP, Poschmann J, Laumonnier F, Hildebrand PW, Eichler EE, McWalter K, Krawitz PM, Droit A, Elgersma Y, Grabrucker AM, Bolduc FV, Bézieau S, Ebstein F, Krüger E

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jan 26. Date of Electronic Publication: 2024 Jan 26.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Scott-Boyer MP; Centre de Recherche du CHU de Québec-Université, Laval, Université Laval, G1V 4G2, Québec, Canada., Dufour P; Centre de Recherche du CHU de Québec-Université, Laval, Université Laval, G1V 4G2, Québec, Canada., Belleau F; Centre de Recherche du CHU de Québec-Université, Laval, Université Laval, G1V 4G2, Québec, Canada., Ongaro-Carcy R; Centre de Recherche du CHU de Québec-Université, Laval, Université Laval, G1V 4G2, Québec, Canada.; Département de Médecine Moléculaire, G1V 0A6, Québec, Canada., Plessis C; Centre de Recherche du CHU de Québec-Université, Laval, Université Laval, G1V 4G2, Québec, Canada., Périn O; L'Oréal Advance Research, Aulnay-sous-Bois, 93600, France., Droit A; Centre de Recherche du CHU de Québec-Université, Laval, Université Laval, G1V 4G2, Québec, Canada.; Département de Médecine Moléculaire, G1V 0A6, Québec, Canada.

المصدر: Briefings in bioinformatics [Brief Bioinform] 2023 Sep 22; Vol. 24 (6).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN: 1477-4054 (Electronic) Linking ISSN: 14675463 NLM ISO Abbreviation: Brief Bioinform Subsets: MEDLINE

مواضيع طبية MeSH: Software* , Datasets as Topic*, Data Visualization

المؤلفون: Chan D; Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Ly L; Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Rebolledo EMD; Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada., Martel J; Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Landry M; Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Scott-Boyer MP; Centre de Recherche du CHU de Québec-Université Laval, Québec, QC, Canada., Droit A; Centre de Recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Département de Médecine Moléculaire, Université Laval, Québec, QC, Canada., Trasler JM; Research Institute of the McGill University Health Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Departments of Pediatrics and Pharmacology & Therapeutics, McGill University, Montreal, QC, Canada.

المصدر: Andrology [Andrology] 2023 Jul; Vol. 11 (5), pp. 927-942. Date of Electronic Publication: 2023 Feb 17.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101585129 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-2927 (Electronic) Linking ISSN: 20472919 NLM ISO Abbreviation: Andrology Subsets: MEDLINE

مواضيع طبية MeSH: DNA Methylation* , Folic Acid Deficiency*/genetics , Folic Acid Deficiency*/metabolism, Pregnancy ; Male ; Female ; Mice ; Animals ; Semen/metabolism ; Epigenesis, Genetic ; Spermatozoa/metabolism ; Folic Acid/metabolism ; Dietary Supplements ; Spermatogonia/metabolism ; DNA/metabolism

المؤلفون: Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Most V; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany., Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada., Scott-Boyer MP; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada., van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Golnik R; Klinik für Pädiatrie I, Universitätsklinikum Halle (Saale), 06120 Halle (Saale), Germany., Baldridge D; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Forster C; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., de Konink C; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Teurlings SMW; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands., Ades L; Department of Clinical Genetics, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Mignot C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, 75013 Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, 75013, Paris, France., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, Netherlands., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Yang S; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Hannig V; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Brault JA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, CA 92868, USA., Bennetts B; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW, 2145, Australia., Keren B; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France., Gélineau AC; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France., Powis Z; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA., Towne M; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA., Bachman K; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Seeley A; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Beck AE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98195-6320, USA., Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID 83712, USA., Averill K; Department of Pediatrics, Division of Pediatric Neurology, UT Health Science Center at San Antonio, San Antonio, TX 78229, USA., Brunet T; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Haasters J; Klinikum der Universität München, Integriertes Sozialpädiatrisches Zentrum, 80337 Munich, Germany., Carter MT; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Forzano F; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Mohammed S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Trakadis Y; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada., Accogli A; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada., Harrison R; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, City Hospital Campus, the Gables, Gate 3, Hucknall Road, Nottingham NG5 1PB, UK., Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Baujat G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Preisel M; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Laumonnier F; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, 37032 Tours, France., Kallinich T; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.; Deutsches Rheumaforschungszentrum, an institute of the Leibniz Association, Berlin and Berlin Institute of Health, 10117 Berlin, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Völker U; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany., Hammer E; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany., Droit A; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Elgersma Y; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany.; Charité Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, 10178 Berlin, Germany., Bolduc F; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.

المصدر: Science translational medicine [Sci Transl Med] 2023 May 31; Vol. 15 (698), pp. eabo3189. Date of Electronic Publication: 2023 May 31.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Interferon Type I* , Proteasome Endopeptidase Complex*/metabolism, Animals ; Humans ; Mice ; Adenosine Triphosphatases/genetics ; Drosophila melanogaster ; Gene Expression ; Proteomics

المؤلفون: Robin V; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Bodein A; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Scott-Boyer MP; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Leclercq M; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada., Périn O; Digital Sciences Department, L'Oréal Advanced Research, Aulnay-sous-bois, France., Droit A; Molecular Medicine Department, CHU de Québec Research Center, Université Laval, Québec, QC, Canada.

المصدر: Frontiers in molecular biosciences [Front Mol Biosci] 2022 Sep 08; Vol. 9, pp. 962799. Date of Electronic Publication: 2022 Sep 08 (Print Publication: 2022).

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101653173 Publication Model: eCollection Cited Medium: Print ISSN: 2296-889X (Print) Linking ISSN: 2296889X NLM ISO Abbreviation: Front Mol Biosci Subsets: PubMed not MEDLINE

المؤلفون: Setty ST; Molecular Medicine Department, CHU de Quebec Research Center-UL, Quebec City, QC G1V 4G2, Canada., Scott-Boyer MP; Molecular Medicine Department, CHU de Quebec Research Center-UL, Quebec City, QC G1V 4G2, Canada., Cuppens T; Molecular Medicine Department, CHU de Quebec Research Center-UL, Quebec City, QC G1V 4G2, Canada., Droit A; Molecular Medicine Department, CHU de Quebec Research Center-UL, Quebec City, QC G1V 4G2, Canada.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2022 Jun 18; Vol. 23 (12). Date of Electronic Publication: 2022 Jun 18.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Exome*/genetics , Rare Diseases*/diagnosis , Rare Diseases*/genetics, High-Throughput Nucleotide Sequencing ; Humans ; Machine Learning ; Exome Sequencing/methods

المؤلفون: Chen H; Faculty of Medicine, Université Laval, Quebec, QC, Canada.; Center for Research in Reproduction, Development and Intergenerational Health, Quebec, QC, Canada., Scott-Boyer MP; Faculty of Medicine, Université Laval, Quebec, QC, Canada., Droit A; Faculty of Medicine, Université Laval, Quebec, QC, Canada., Robert C; Center for Research in Reproduction, Development and Intergenerational Health, Quebec, QC, Canada.; Faculty of Animal Sciences, Université Laval, Quebec, QC, Canada., Belleannée C; Faculty of Medicine, Université Laval, Quebec, QC, Canada.; Center for Research in Reproduction, Development and Intergenerational Health, Quebec, QC, Canada.

المصدر: Frontiers in cell and developmental biology [Front Cell Dev Biol] 2022 Mar 22; Vol. 10, pp. 834519. Date of Electronic Publication: 2022 Mar 22 (Print Publication: 2022).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited Medium: Print ISSN: 2296-634X (Print) Linking ISSN: 2296634X NLM ISO Abbreviation: Front Cell Dev Biol Subsets: PubMed not MEDLINE