Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

Autor: Mh, Breuning, Hg, Dauwerse, Fugazza G, Jj, Saris, Spruit L, Herman Wijnen, Tommerup N, Cb, Hagen, Imaizumi K, Kuroki Y, Mj, Den Boogaard, Jm, Pater, Ec, Mariman, Bc, Hamel, Himmelbauer H, Am, Frischauf, Stallings R, Gc, Beverstock, Gj, Ommen, Rc, Hennekam

Publikováno v: Europe PubMed Central

The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::5bc7bf7698e09ddad3635d0deb6de0c8
http://europepmc.org/abstract/med/8430691

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.

Autor: Dekker J; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Schot R; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Bongaerts M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., de Valk WG; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Veghel-Plandsoen MM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Monfils K; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Douben H; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Elfferich P; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Kasteleijn E; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Unen LMA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Geeven G; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Saris JJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Ierland Y; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Verheijen FW; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van der Sterre MLT; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Sadeghi Niaraki F; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Smits DJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Huidekoper HH; Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Williams M; Department of Pediatrics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Verhoeven VJM; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Joosten M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Hoogeveen-Westerveld M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Nellist M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., Mancini GMS; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands., van Ham TJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 Rotterdam, the Netherlands. Electronic address: t.vanham@erasmusmc.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2023 Feb 02; Vol. 110 (2), pp. 251-272. Date of Electronic Publication: 2023 Jan 19.

De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Autor: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Drouot N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France., MacLennan SC; Department of Paediatric Neurology, Women's and Children's Hospital, Adelaide, South Australia, Australia., Wessels MW; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Krygier M; Department of Developmental Neurology, Medical University of Gdańsk, Gdańsk, Poland., Pavinato L; Department of Medical Sciences, University of Turin, Turin, Italy.; Center for Molecular Medicine Cologne, Institute of Human Genetics, University of Cologne, Cologne, Germany., Telegrafi A; Clinical Genomics Program, GeneDx, Gaithersburg, Maryland, USA., de Man SA; Department of Pediatrics, Amphia Hospital, Breda, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Iacomino M; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Madia F; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Scudieri P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Uva P; Clinical Bioinformatics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Giacomini T; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Nobile G; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Mancardi MM; Unit of Child Neuropsychiatry, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Balagura G; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Galloni GB; Struttura Complessa Neuropsichiatria Infantile Sud, Azienda Sanitaria Locale Città di Torino, Torino, Italy., Verrotti A; Department of Pediatrics, University of Perugia, Perugia, Italy., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan., Khan A; Faculty of Biological Science, Department of Zoology, University of Lakki Marwat, Lakki Marwat, Pakistan., Liebelt J; South Australian Clinical Genetics Service, Women's and Children's Hospital, Adelaide, South Australia, Australia., Schmidts M; Department of General Pediatrics and Adolescent Medicine, Medical Center and Faculty of Medicine, University of Freiburg, Freiburg, Germany., Langer T; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Brusco A; Department of Medical Sciences, University of Turin, Turin, Italy.; Unit of Medical Genetics, 'Città della Salute e della Scienza' University Hospital, Turin, Italy., Lipska-Ziętkiewicz BS; Clinical Genetics Unit, Department of Biology and Medical Genetics, Medical University of Gdańsk, Gdańsk, Poland.; Centre for Rare Diseases, Medical University of Gdańsk, Gdańsk, Poland., Saris JJ; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Charlet-Berguerand N; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Unit of Medical Genetics, IRCCS Giannina Gaslini Institute, Genoa, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch, France.; Centre National de la Recherche Scientifique, UMR7104, Illkirch, France.; Institut National de la Santé et de la Recherche Médicale, U964, Illkirch, France.; Université de Strasbourg, Illkirch, France.; Laboratory of Genetic Diagnostic, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Institut Universitaire de France, Paris, Île-de-France, France.

Publikováno v: Human mutation [Hum Mutat] 2022 Sep; Vol. 43 (9), pp. 1299-1313. Date of Electronic Publication: 2022 Jun 08.

Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.

Autor: Rumping L; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Wessels MW; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Postma AV; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Medical Biology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Schuppen J; Department of Radiology and Nuclear Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., Saris JJ; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, The Netherlands., van Tintelen JP; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Robertson SP; Department of Women's and Children's Health, University of Otago, Dunedin, New Zealand., Alders M; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Maas SM; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Deprez RHL; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3814-3820. Date of Electronic Publication: 2021 Jul 13.

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Autor: Fokkema IFAC; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., van der Velde KJ; Genomics Coordination Center & Department of Genetics, University Medical Center, Groningen, University of Groningen, Groningen, The Netherlands., Slofstra MK; Genomics Coordination Center & Department of Genetics, University Medical Center, Groningen, University of Groningen, Groningen, The Netherlands., Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Vogel MJ; Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Lekanne Deprez RH; Department of Clinical Genetics, Academic Medical Center, Amsterdam UMC, Amsterdam, The Netherlands., Waisfisz Q; Department of Clinical Genetics, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, The Netherlands., Abbott KM; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Sinke RJ; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Rahman R; Department of Research IT, Netherlands Cancer Institute, Amsterdam, The Netherlands., Nijman IJ; Medicine Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., de Koning B; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Thijs G; DGG-Genomics Software Solutions, Agilent Technologies, Leuven, Belgium., Wieskamp N; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Moritz RJG; Department of Pathology, Netherlands Cancer Institute, Amsterdam, The Netherlands., Charbon B; Genomics Coordination Center & Department of Genetics, University Medical Center, Groningen, University of Groningen, Groningen, The Netherlands., Saris JJ; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., den Dunnen JT; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands., Laros JFJ; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Swertz MA; Genomics Coordination Center & Department of Genetics, University Medical Center, Groningen, University of Groningen, Groningen, The Netherlands., van Gijn ME; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Medicine Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

Publikováno v: Human mutation [Hum Mutat] 2019 Dec; Vol. 40 (12), pp. 2230-2238. Date of Electronic Publication: 2019 Sep 03.