Preimplantation Genetic Testing within the Public Healthcare System in Slovenia

Autor: Volk M, Writzl K, Veble A, Jaklič H, Teran N, Prosenc B, Štimpfel M, Virant Klun I, Vrtačnik Bokal E, Ban Frangež H, Peterlin B

Publikováno v: Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 5-10 (2024)

Preimplantation genetic testing (PGT) is the earliest form of prenatal diagnosis that has become an established procedure for couples at risk of passing a severe genetic disease to their offspring. At UMC Ljubljana, we conducted a retrospective regis

Externí odkaz: https://doaj.org/article/6c96e592e7ff4b3d998ebf6d0eaa66d8

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Autor: Bassani S; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Chrast J; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland., Ambrosini G; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Voisin N; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Sophia Genetics, St Sulpice, Switzerland., Schütz F; Biostatistics Platform, University of Lausanne, Lausanne, Switzerland., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy., Sirchia F; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy.; Present address: Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Present address: Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Turban L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany., DeMille D; Genomics Analysis 396, ARUP Laboratories, Salt Lake City, UT, USA., Bayrak-Toydemir P; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Nelson GR; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Wong KN; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Duncan L; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA.; Present address: Mayo Clinic, Rochester, MN, USA., Mosera M; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA., Gilissen C; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Kersseboom R; Center for Genetic Developmental Disorders Southwest, Zuidwester, Middelharnis, The Netherlands., Yttervik H; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Hansen GÅM; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway., Butler KM; Greenwood Genetic Center, Greenwood, SC, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA., Carvalho CMB; Pacific Northwest Research Institute (PNRI), Broadway, Seattle, WA, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhang C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Flores-Gallegos L; Hospital Ángeles Puebla, Puebla, Mexico., Morales-Toquero R; Hospital Ángeles Puebla, Puebla, Mexico., Petit F; CHU Lille, Clinique de Génétique, 59000, Lille, France., Yalcin B; Inserm UMR1231, University of Burgundy, 21000, Dijon, France., Tuttle A; GeneDx, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., McCormick L; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Kukolich M; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Klaas O; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Horvath J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Scala M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Operto F; Department of Medicine, Child and Adolescent Neuropsychiatry Unit, Surgery and Dentistry, University of Salerno, Salerno, Italy., Zara F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Writzl K; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Pohjola P; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Arikka H; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Calandrini C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Iseli C; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Reymond A; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland. alexandre.reymond@unil.ch.

Publikováno v: Genome medicine [Genome Med] 2024 May 30; Vol. 16 (1), pp. 72. Date of Electronic Publication: 2024 May 30.

Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients.

Autor: Vodnjov N; Clinical Institute of Genomic Medicine (CIGM), University Medical Centre (UMC) Ljubljana, Ljubljana, Slovenia.; Biotechnical Faculty, University of Ljubljana (UL), Ljubljana, Slovenia., Zupan Mežnar A; Department of Cardiology, UMC Ljubljana, Ljubljana, Slovenia., Maver A; Clinical Institute of Genomic Medicine (CIGM), University Medical Centre (UMC) Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Dolinšek A; Institute of Radiology, UMC Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute of Genomic Medicine (CIGM), University Medical Centre (UMC) Ljubljana, Ljubljana, Slovenia., Writzl K; Clinical Institute of Genomic Medicine (CIGM), University Medical Centre (UMC) Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.; Member of the European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart-ERN GUARD- Heart, UMC Ljubljana, Ljubljana, Slovenia.

Publikováno v: Clinical genetics [Clin Genet] 2024 Oct; Vol. 106 (4), pp. 500-504. Date of Electronic Publication: 2024 Jun 11.

Clinical Outcome of Hypertrophic Cardiomyopathy in Probands with the Founder Variant c.913_914del in MYBPC3: A Slovenian Cohort Study.

Autor: Vodnjov N; University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia.; Biotechnical Faculty, University of Ljubljana, Ljubljana, Slovenia., Maver A; University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Teran N; University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia., Peterlin B; University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia., Toplišek J; Department of Cardiology, University Medical Centre Ljubljana, Ljubljana, Slovenia. janez.toplisek@kclj.si., Writzl K; University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia. karinwritzl@gmail.com.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. karinwritzl@gmail.com.; European Reference Network for Rare, Low Prevalence, Or Complex Diseases of the Heart (ERN GUARD-Heart), Amsterdam, The Netherlands. karinwritzl@gmail.com.

Publikováno v: Journal of cardiovascular translational research [J Cardiovasc Transl Res] 2024 Aug 19. Date of Electronic Publication: 2024 Aug 19.

Interstitial deletion 2p11.2–p12: Further delineationHow to cite this article: Writzl K, Lovrei L, Peterlin B. 2009. Interstitial deletion 2p11.2–p12: Further delineation. Am J Med Genet Part A 149A:2324–2326.

Autor: Writzl, Karin, Lovrei, Luca, Peterlin, Borut

Publikováno v: American Journal of Medical Genetics. Part A; October 2009, Vol. 149 Issue: 10 p2324-2326, 3p