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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

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作者: Matthew,Jensen [1] ; Corrine,Smolen [1] ; Anastasia,Tyryshkina [2] ; Lucilla,Pizzo [2] ; Deepro,Banerjee [2] ; Matthew,Oetjens [3] ; Hermela,Shimelis [3] ; Cora M,Taylor [3] ; Vijay Kumar,Pounraja [1] ; Hyebin,Song [4] ; Laura,Rohan [2] ; Emily,Huber [2] ; Laila,El Khattabi [5] ; Ingrid,van de Laar [6] ; Rafik,Tadros [6] ; Connie,Bezzina [6] ; Marjon,van Slegtenhorst [6] ; Janneke,Kammeraad [6] ; Paolo,Prontera [7] ; Jean-Hubert,Caberg [8] ; Harry,Fraser [9] ; Siddhartha,Banka [10] ; Anke,Van Dijck [11] ; Charles,Schwartz [12] ; Els,Voorhoeve [13] ; Patrick,Callier [14] ; Anne-Laure,Mosca-Boidron [14] ; Nathalie,Marle [14] ; Mathilde,Lefebvre [15] ; Kate,Pope [16] ; Penny,Snell [16] ; Amber,Boys [16] ; Paul J,Lockhart [17] ; Myla,Ashfaq [18] ; Elizabeth,McCready [19] ; Margaret,Nowacyzk [19] ; Lucia,Castiglia [20] ; Ornella,Galesi [20] ; Emanuela,Avola [20] ; Teresa,Mattina [20] ; Marco,Fichera [21] ; Maria Grazia,Bruccheri [20] ; Giuseppa Maria Luana,Mandarà [22] ; Francesca,Mari [23] ; Flavia,Privitera [23] ; Ilaria,Longo [23] ; Aurora,Curró [23] ; Alessandra,Renieri [23] ; Boris,Keren [24] ; Perrine,Charles [24] ; Silvestre,Cuinat [25] ; Mathilde,Nizon [25] ; Olivier,Pichon [25] ; Claire,Bénéteau [25] ; Radka,Stoeva [25] ; Dominique,Martin-Coignard [26] ; Sophia,Blesson [27] ; Cedric,Le Caignec [28] ; Sandra,Mercier [27] ; Marie,Vincent [27] ; Christa,Martin [3] ; Katrin,Mannik [29] ; Alexandre,Reymond [30] ; Laurence,Faivre [31] ; Erik,Sistermans [13] ; R Frank,Kooy [11] ; David J,Amor [13] ; Corrado,Romano [21] ; Joris,Andrieux [32] ; Santhosh,Girirajan [33]
作者单位: Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.;Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA. [1] Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA. [2] Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA. [3] Department of Statistics, Pennsylvania State University, University Park, PA 16802, USA. [4] Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France. [5] Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands. [6] Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy. [7] Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium. [8] Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. [9] Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.;Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre, Manchester, UK. [10] Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium. [11] Greenwood Genetic Center, Greenwood, SC 29646, USA. [12] Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands. [13] Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France. [14] Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France. [15] Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia. [16] Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia.;Department of Paediatrics, University of Melbourne, Melbourne, Australia. [17] Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center, Houston, TX 77030, USA. [18] Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada. [19] Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy. [20] Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.;Section of Clinical Biochemistry and Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania School of Medicine, Catania, Italy. [21] Medical Genetics, ASP Ragusa, Ragusa, Italy. [22] Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy. [23] Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75019 Paris, France. [24] CHU Nantes, Medical Genetics Department, Nantes, France. [25] Service de Cytogenetique, CHU de Le Mans, Le Mans, France. [26] Department of Genetics, Bretonneau University Hospital, Tours, France. [27] CHU Toulouse, Department of Medical Genetics, Toulouse, France.;Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France. [28] Institute of Genomics, University of Tartu, Estonia.;Health2030 Genome Center, Fondation Campus Biotech, Geneva, Switzerland. [29] Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Switzerland. [30] Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France.;Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France. [31] Institut de Genetique Medicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France. [32] Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.;Bioinformatics and Genomics Graduate program, Pennsylvania State University, University Park, PA 16802, USA.;Department of Anthropology, Pennsylvania State University, University Park, PA 16802, USA. [33]
DOI 10.1101/2024.08.27.24312158
PMID 39252907
发布时间 2024-10-23
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