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Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

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Title: Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Authors: Jensen M; 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., Smolen C; 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., Tyryshkina A; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Pizzo L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Banerjee D; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Oetjens M; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Shimelis H; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Taylor CM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Pounraja VK; 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., Song H; Department of Statistics, Pennsylvania State University, University Park, PA 16802, USA., Rohan L; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., Huber E; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA., El Khattabi L; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France., van de Laar I; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Tadros R; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Bezzina C; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Kammeraad J; Department of Clinical Genetics, Erasmus MC, Univ. Medical Center Rotterdam, Rotterdam, The Netherlands., Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia, Perugia, Italy., Caberg JH; Centre Hospitalier Universitaire de Liège. Domaine Universitaire du Sart Tilman, Liège, Belgium., Fraser H; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Banka S; 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., Van Dijck A; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Schwartz C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Voorhoeve E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Callier P; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France., Mosca-Boidron AL; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France., Marle N; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France., Lefebvre M; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France., Pope K; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia., Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia., Boys A; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia., Lockhart PJ; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Ashfaq M; Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center, Houston, TX 77030, USA., McCready E; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Nowacyzk M; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Castiglia L; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Galesi O; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Avola E; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Mattina T; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Fichera M; 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., Bruccheri MG; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy., Mandarà GML; Medical Genetics, ASP Ragusa, Ragusa, Italy., Mari F; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Privitera F; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Longo I; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Curró A; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Renieri A; Laboratory of Clinical Molecular Genetics and Cytogenetics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Keren B; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75019 Paris, France., Charles P; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, 75019 Paris, France., Cuinat S; CHU Nantes, Medical Genetics Department, Nantes, France., Nizon M; CHU Nantes, Medical Genetics Department, Nantes, France., Pichon O; CHU Nantes, Medical Genetics Department, Nantes, France., Bénéteau C; CHU Nantes, Medical Genetics Department, Nantes, France., Stoeva R; CHU Nantes, Medical Genetics Department, Nantes, France., Martin-Coignard D; Service de Cytogenetique, CHU de Le Mans, Le Mans, France., Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France., Le Caignec C; CHU Toulouse, Department of Medical Genetics, Toulouse, France.; Toulouse Neuro Imaging, Center, Inserm, UPS, Université de Toulouse, Toulouse, France., Mercier S; Department of Genetics, Bretonneau University Hospital, Tours, France., Vincent M; Department of Genetics, Bretonneau University Hospital, Tours, France., Martin C; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA., Mannik K; Institute of Genomics, University of Tartu, Estonia.; Health2030 Genome Center, Fondation Campus Biotech, Geneva, Switzerland., Reymond A; Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Switzerland., Faivre L; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France.; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France., Sistermans E; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Kooy RF; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium., Amor DJ; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Romano C; 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., Andrieux J; Institut de Genetique Medicale, Hopital Jeanne de Flandre, CHRU de Lille, Lille, France., Girirajan S; 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.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 28. Date of Electronic Publication: 2024 Aug 28.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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PubType: Academic Journal
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  Data: Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
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  Data: <searchLink fieldCode="AU" term="%22Jensen+M%22">Jensen M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Smolen+C%22">Smolen C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Tyryshkina+A%22">Tyryshkina A</searchLink>; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.<br /><searchLink fieldCode="AU" term="%22Pizzo+L%22">Pizzo L</searchLink>; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.<br /><searchLink fieldCode="AU" term="%22Banerjee+D%22">Banerjee D</searchLink>; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.<br /><searchLink fieldCode="AU" term="%22Oetjens+M%22">Oetjens M</searchLink>; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA.<br /><searchLink fieldCode="AU" term="%22Shimelis+H%22">Shimelis H</searchLink>; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA.<br /><searchLink fieldCode="AU" term="%22Taylor+CM%22">Taylor CM</searchLink>; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA.<br /><searchLink fieldCode="AU" term="%22Pounraja+VK%22">Pounraja VK</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Song+H%22">Song H</searchLink>; Department of Statistics, Pennsylvania State University, University Park, PA 16802, USA.<br /><searchLink fieldCode="AU" term="%22Rohan+L%22">Rohan L</searchLink>; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.<br /><searchLink fieldCode="AU" term="%22Huber+E%22">Huber E</searchLink>; Department of Biochemistry and Molecular Biology, Pennsylvania State University, University Park, PA 16802, USA.<br /><searchLink fieldCode="AU" term="%22El+Khattabi+L%22">El Khattabi L</searchLink>; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.<br /><searchLink fieldCode="AU" term="%22van+de+Laar+I%22">van de Laar I</searchLink>; Department of Clinical Genetics, Erasmus MC, Univ. 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Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA 17837, USA.<br /><searchLink fieldCode="AU" term="%22Mannik+K%22">Mannik K</searchLink>; Institute of Genomics, University of Tartu, Estonia.; Health2030 Genome Center, Fondation Campus Biotech, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Reymond+A%22">Reymond A</searchLink>; Center for Integrative Genomics, Faculty of Biology and Medicine, University of Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; Center for Rare Diseases and Reference Developmental Anomalies and Malformation Syndromes, CHU Dijon, Dijon, France.; Laboratoire de Genetique Chromosomique et Moleculaire, CHU Dijon, France.<br /><searchLink fieldCode="AU" term="%22Sistermans+E%22">Sistermans E</searchLink>; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Kooy+RF%22">Kooy RF</searchLink>; Department of Medical Genetics, University and University Hospital Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Amor+DJ%22">Amor DJ</searchLink>; 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            NameFull: Lefebvre M
      – PersonEntity:
          Name:
            NameFull: Pope K
      – PersonEntity:
          Name:
            NameFull: Snell P
      – PersonEntity:
          Name:
            NameFull: Boys A
      – PersonEntity:
          Name:
            NameFull: Lockhart PJ
      – PersonEntity:
          Name:
            NameFull: Ashfaq M
      – PersonEntity:
          Name:
            NameFull: McCready E
      – PersonEntity:
          Name:
            NameFull: Nowacyzk M
      – PersonEntity:
          Name:
            NameFull: Castiglia L
      – PersonEntity:
          Name:
            NameFull: Galesi O
      – PersonEntity:
          Name:
            NameFull: Avola E
      – PersonEntity:
          Name:
            NameFull: Mattina T
      – PersonEntity:
          Name:
            NameFull: Fichera M
      – PersonEntity:
          Name:
            NameFull: Bruccheri MG
      – PersonEntity:
          Name:
            NameFull: Mandarà GML
      – PersonEntity:
          Name:
            NameFull: Mari F
      – PersonEntity:
          Name:
            NameFull: Privitera F
      – PersonEntity:
          Name:
            NameFull: Longo I
      – PersonEntity:
          Name:
            NameFull: Curró A
      – PersonEntity:
          Name:
            NameFull: Renieri A
      – PersonEntity:
          Name:
            NameFull: Keren B
      – PersonEntity:
          Name:
            NameFull: Charles P
      – PersonEntity:
          Name:
            NameFull: Cuinat S
      – PersonEntity:
          Name:
            NameFull: Nizon M
      – PersonEntity:
          Name:
            NameFull: Pichon O
      – PersonEntity:
          Name:
            NameFull: Bénéteau C
      – PersonEntity:
          Name:
            NameFull: Stoeva R
      – PersonEntity:
          Name:
            NameFull: Martin-Coignard D
      – PersonEntity:
          Name:
            NameFull: Blesson S
      – PersonEntity:
          Name:
            NameFull: Le Caignec C
      – PersonEntity:
          Name:
            NameFull: Mercier S
      – PersonEntity:
          Name:
            NameFull: Vincent M
      – PersonEntity:
          Name:
            NameFull: Martin C
      – PersonEntity:
          Name:
            NameFull: Mannik K
      – PersonEntity:
          Name:
            NameFull: Reymond A
      – PersonEntity:
          Name:
            NameFull: Faivre L
      – PersonEntity:
          Name:
            NameFull: Sistermans E
      – PersonEntity:
          Name:
            NameFull: Kooy RF
      – PersonEntity:
          Name:
            NameFull: Amor DJ
      – PersonEntity:
          Name:
            NameFull: Romano C
      – PersonEntity:
          Name:
            NameFull: Andrieux J
      – PersonEntity:
          Name:
            NameFull: Girirajan S
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 28
              M: 08
              Text: 2024 Aug 28
              Type: published
              Y: 2024
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
ResultId 1