Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Autor: Hogervorst, F.B.L., van Leeuwen, F.E., Adank, M.A., Schmidt, M.K., Stommel-Jenner, D.J., de Groot, R., Vieveen, E., Collée, J.M., Geurts-Giele, W., Heemskerk-Gerritsen, B.A.M., Hooning, M.J., Boere, I.A., van Asperen, C.J., Devilee, P., van der Luijt, R.B., Wevers, M.R., Mensenkamp, A.R., de Hullu, J.A., Ausems, M.G.E.M., Koudijs, M.J., Koole, W., van Engelen, K., Gille, J.J.P., Gómez García, E.B., Blok, M.J., Berger, L.P.V., van der Hout, A.H., de Bock, G.H., Yigit, R., Siesling, S., Verloop, J., Voorham, Q.J.M., Schreurs, Maartje A.C., Schmidt, Marjanka K., Hollestelle, Antoinette, Schaapveld, Michael, van Asperen, Christi J., Ausems, Margreet G.E.M., van de Beek, Irma, Broekema, Marjoleine F., Margriet Collée, J., van der Hout, Annemieke H., van Kaam, Kim J.A.F., Komdeur, Fenne L., Mensenkamp, Arjen R., Adank, Muriel A., Hooning, Maartje J.

Publikováno v: In Genetics in Medicine September 2024 26(9)

Late-onset tumors in rhabdoid tumor predisposition syndrome type-1 (RTPS1) and implications for surveillance.

Autor: Nakano Y; Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics, University of Toronto, Toronto, ON, Canada., Acker M; Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada., Druker H; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., van Engelen K; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON, Canada., Meyn MS; Center for Human Genomics and Precision Medicine, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA., Wasserman JD; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Division of Endocrinology, The Hospital for Sick Children, Toronto, ON, Canada., Venier RE; Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Department of Genetic Counselling, University of Toronto, Toronto, ON, Canada., Goudie C; Department of Pediatrics, McGill University Health Centre, Montreal, QC, Canada., Stosic A; Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada., Huang A; Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics, University of Toronto, Toronto, ON, Canada., Greer MC; Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, Department of Medical Imaging, University of Toronto, Toronto, ON, Canada., Malkin D; Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Pediatrics, University of Toronto, Toronto, ON, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada., Villani A; Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, ON, Canada. anita.villani@sickkids.ca.; Department of Pediatrics, University of Toronto, Toronto, ON, Canada. anita.villani@sickkids.ca., Gallinger B; Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Genetic Counselling, University of Toronto, Toronto, ON, Canada.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Aug 08. Date of Electronic Publication: 2024 Aug 08.

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An Analysis of Medication Adherence in a Large Outpatient Population During the COVID-19 Pandemic Using a Novel Value-Based Pharmacy System.

Autor: Hefti E; Department of Pharmaceutical Sciences, Harrisburg University of Science and Technology, Harrisburg, Pennsylvania, USA.; RxLive, Inc., St. Petersburg, Florida, USA., Xie Y; Premier Strategy Consulting LLC, St. Louis, Missouri, USA., Engelen K; RxLive, Inc., St. Petersburg, Florida, USA.

Publikováno v: Telemedicine journal and e-health : the official journal of the American Telemedicine Association [Telemed J E Health] 2024 Feb; Vol. 30 (2), pp. 556-562. Date of Electronic Publication: 2023 Aug 07.

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis.

Autor: Stefanski A; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA., Pérez-Palma E; Universidad del Desarrollo, Centro de Genética y Genómica, Facultad de Medicina Clínica Alemana, Santiago de Chile 7610658, Chile., Brünger T; Cologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, University Hospital of Cologne, Cologne 50931, Germany., Montanucci L; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA., Gati C; Department of Biological Sciences, Bridge Institute, USC Michelson Center for Convergent Bioscience, University of Southern California, Los Angeles, CA 90089, USA., Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany., Johannesen KM; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Genetics, University Hospital of Copenhagen, Rigshispitalet, Copenhagen 2100, Denmark., Goodspeed K; Children's Health, Medical Center, Dallas, TX 75235, USA.; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA., Macnee M; Cologne Center for Genomics (CCG), Medical Faculty of the University of Cologne, University Hospital of Cologne, Cologne 50931, Germany., Deng AT; Clinical Genetics, Guys and St Thomas NHS Trust, London SE19RT, UK., Aledo-Serrano Á; Epilepsy Program, Neurology Department, Hospital Ruber Internacional, Madrid 28034, Spain., Borovikov A; Research and Counseling Department, Research Centre for Medical Genetics, Moscow 115478, Russia., Kava M; Department of Neurology and Metabolic Medicine, Perth Children's Hospital, Perth 6009, Australia.; School of Paediatrics and Child Health, UWA Medical School, University of Western Australia, Perth 6009, Australia., Bouman AM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam 3015GD, The Netherlands., Hajianpour MJ; Department of Pediatrics, Division of Medical Genetics and Genomics, Albany Medical College, Albany Med Health System, Albany, NY 12208, USA., Pal DK; Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, King's College, London SE58AF, UK.; Department of Basic and Clinical Neurosciences, King's College Hospital, London SE59RS, UK., Engelen M; Department of Pediatric Neurology, Amsterdam Public Health, Amsterdam University Medical Center, Amsterdam 1081HV, The Netherlands., Hagebeuk EEO; Department of Pediatric Neurology, Stichting Epilepsie Instellingen Nederland (SEIN), Heemstede and Zwolle 2103SW, The Netherlands., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, St.Louis Children's Hospital, Washington University School of Medicine, St. Louis, MO 63110, USA., Heidlebaugh AR; Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17837, USA., Oetjens K; Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17837, USA., Hoffman TL; Department of Regional Genetics, Anaheim, Southern California Kaiser Permanente Medical Group, CA 92806, USA., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa 16147, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa 16132, Italy., Freed AS; Department of Clinical Science, Kaiser Permanente Bernard J. Tyson School of Medicine, Pasadena, CA 91101, USA., Futtrup L; Department of Paediatrics, Regional Hospital of Central Jutland, Viborg 8800, Denmark., Balslev T; Department of Paediatrics, Regional Hospital of Central Jutland, Viborg 8800, Denmark.; Centre for Educational Development, Aarhus University, Aarhus 8200, Denmark., Abulí A; Department of Clinical and Molecular Genetics and Medicine Genetics Group, VHIR, University Hospital Vall d'Hebron, Barcelona 08035, Spain., Danvoye L; Department of Neurology, Université catholique de Louvain, Cliniques universitaires Saint-Luc, Brussels 1200, Belgium., Lederer D; Centre for Human Genetics, Institute for Pathology and Genetics, Gosselies 6041, Belgium., Balci T; Department of Pediatrics, Division of Medical Genetics, Western University, London, ON N6A3K7, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, ON N6A5A5, Canada., Nouri MN; Department of Paediatrics, Division of Pediatric Neurology, London Health Sciences Centre, London, ON N6A5W9, Canada., Butler E; GeneDx, Gaithersburg, MD 20877, USA., Drewes S; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA., van Engelen K; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, ON N6A5W9, Canada., Howell KB; Department of Neurology, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Pediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia., Khoury J; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA., May P; Luxembourg Centre for Systems Biomedicine, University of Luxembourg, Esch-sur-Alzette 4362, Luxembourg., Trinidad M; Translational Genomics, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA., Froelich S; Translational Genomics, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig 04103, Germany., Tiller J; SLC6A1 Connect, Frisco, TX 75034, USA., Freed AN; SLC6A1 Connect, Frisco, TX 75034, USA., Kang JQ; Department of Neurology, Vanderbilt University Medical Center, Nashville, TN 37240, USA.; Neuroscience Graduate Program, Vanderbilt University, Nashville, TN 37235, USA.; Department of Neurology, Vanderbilt Brain Institute, Nashville, TN 37235, USA.; Department of Pharmacology, Vanderbilt University, Nashville, TN 37232, USA.; Vanderbilt Kennedy Center of Human Development, Nashville, TN 37203, USA., Wuster A; Translational Genomics, BioMarin Pharmaceutical Inc., Novato, CA 94949, USA., Møller RS; Department of Epilepsy Genetics and Personalized Medicine, The Danish Epilepsy Centre, Dianalund 4293, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense 5000, Denmark., Lal D; Genomic Medicine Institute and Epilepsy Center, Cleveland Clinic, Cleveland, OH 44195, USA.; Stanley Center of Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.; Department of Neurology, University of Texas Health Sciences Center at Houston, Houston, TX 77030, USA.

Publikováno v: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5198-5208.