Genetic modifiers and ascertainment drive variable expressivity of complex disorders.

Autor: 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.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Aug 28. Date of Electronic Publication: 2024 Aug 28.

Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotypeHow to cite this article: Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K. 2007. Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype. Am J Med Genet Part A 143A:2712–2715.

Autor: Van de Laar, Ingrid, Dooijes, Dennis, Hoefsloot, Lies, Simon, Marleen, Hoogeboom, Jeanette, Devriendt, Koenraad

Publikováno v: American Journal of Medical Genetics. Part A; November 2007, Vol. 143 Issue: 22 p2712-2715, 4p

Enzalutamide Reduces Oxycodone Exposure in Men with Prostate Cancer.

Autor: Detert Oude Weme, S. E. H., Hulskotte, L. M. G., Vervenne, W. L., Imholz, A. L. T., Cremers, R. G. H. M., Taxis, K., Reyners, A. K. L., van Berlo-van de Laar, I. R. F., Jansman, F. G. A., Benoist, G. E.

Publikováno v: Clinical Pharmacokinetics; Jul2023, Vol. 62 Issue 7, p989-996, 8p

Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort

Autor: van den Bersselaar, L., Rompen, E., Kurul, S., Kempers, M., Houweling, A., Overwater, E., Hilhorst, Y., Barge-Schaapveld, D., Krapels, I., Dulfer, E., Wessels, M., Loeys, B., Bekkers, J., Bruggenwirth, H., Maugeri, A., Roos-Hesselink, J., Verhagen, J., van de laar, I.

Publikováno v: European Journal of Human Genetics, 28(SUPPL 1), 258-258. Nature Publishing Group
van den Bersselaar, L, Rompen, E, Kurul, S, Kempers, M, Houweling, A, Overwater, E, Hilhorst, Y, Barge-Schaapveld, D, Krapels, I, Dulfer, E, Wessels, M, Loeys, B, Bekkers, J, Bruggenwirth, H, Maugeri, A, Roos-Hesselink, J, Verhagen, J & van de laar, I 2020, ' Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort ', European Journal of Human Genetics, vol. 28, no. SUPPL 1, pp. 258-258 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d105b02b416fdeda5e4668a25e504c9f
https://research.vumc.nl/en/publications/83e6594f-ad84-43e3-9c4b-a6d20ac4a2ff

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