A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.

Autor: van Prooije TH; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Pennings M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Dorresteijn L; Department of Neurology, Medisch Spectrum Twente, Enschede, the Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Odekerken VJJ; Department of Neurology, Amsterdam UMC, Amsterdam, the Netherlands., Oosterloo M; Department of Neurology, School for Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, the Netherlands., Pedersen A; Department of Laboratory Medicine, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Genetics and Genomics, Sahlgrenska University Hospital, Gothenburg, Sweden., Verschuuren-Bemelmans CC; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Vrancken A; Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., van de Warrenburg BPC; Department of Neurology, Donders Institute for Brain, Cognition, and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Sep; Vol. 39 (9), pp. 1636-1640. Date of Electronic Publication: 2024 Jul 07.

Laryngeal Cleft as Presentation of a 4q13. 1q21. 23 Deletion

Autor: Wieringa, J.E., Jiskoot-Ermers, M.E., Marcelis, C.L., Leeuw, N. de, Winter, J., Gardeitchik, T.

Publikováno v: Annals of Clinical Case Reports, 7

Contains fulltext : 287955.pdf (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::84f4d51cb9629be6da5aa48ec51db163
http://hdl.handle.net/2066/287955

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.

Autor: Pennings M; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Meijer RPP; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Gerrits M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Janssen J; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Pfundt R; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., de Leeuw N; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Gilissen C; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Gardeitchik T; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Schouten M; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., Voermans N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical Center, Nijmegen, the Netherlands., van de Warrenburg B; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical Center, Nijmegen, the Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands. Erik-jan.kamsteeg@radboudumc.nl.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Jun; Vol. 31 (6), pp. 654-662. Date of Electronic Publication: 2023 Feb 13.

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome

Autor: Menke, L.A., Gardeitchik, T., Hammond, P., Heimdal, K.R., Houge, G., Hufnagel, S.B., Ji, J.L., Johansson, S., Kant, S.G., Kinning, E., Leon, E.L., Newbury-Ecob, R., Paolacci, S., Pfundt, R., Ragge, N.K., Rinne, T., Ruivenkamp, C., Saitta, S.C., Sun, Y., Tartaglia, M., Terhal, P.A., Essen, A.J. van, Vigeland, M.D., Xiao, B., Hennekam, R.C., DDD Study

Publikováno v: American Journal of Medical Genetics. Part A, 176(4), 862. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 176, 4, pp. 862-876
American journal of medical genetics. Part A, 176(4), 862-876. Wiley-Liss Inc.
American Journal of Medical Genetics. Part A, 176, 862-876
American Journal of Medical Genetics Part A, 176(4), 862-876
American Journal of Medical Genetics. Part A, 176(4), 862-876. Wiley

Contains fulltext : 190439.pdf (Publisher’s version ) (Closed access) In 2016, we described that missense variants in parts of exons 30 and 31 of CREBBP can cause a phenotype that differs from Rubinstein-Taybi syndrome (RSTS). Here we report on ano

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0c8d35ef1dabe1fdc14ddadc51df7e95
https://dspace.library.uu.nl/handle/1874/364695

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

Autor: Rots D; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Chater-Diehl E; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Dingemans AJM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Goodman SJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Siu MT; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Cytrynbaum C; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada., Choufani S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Hoang N; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Walker S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Awamleh Z; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Charkow J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Meyn S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada., Pfundt R; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Rinne T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Gardeitchik T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., de Vries BBA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Deden AC; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Leenders E; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Kwint M; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., Stevens SJC; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., Vermeulen JR; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., van Harssel JVT; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., Bosch DGM; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., van Gassen KLI; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., van Binsbergen E; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands., de Geus CM; University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands., Brackel H; Catharina Hospital, 5623 EJ Eindhoven, the Netherlands., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany., Slavotinek A; Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143, USA., Strober J; Division of Child Neurology, Department of Neurology & Pediatrics, UCSF, San Francisco, CA 94143, USA., Crunk A; GeneDx, Gaithersburg, MD 20877, USA., Folk L; GeneDx, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Yang H; GeneDx, Gaithersburg, MD 20877, USA., Zou F; GeneDx, Gaithersburg, MD 20877, USA., Millan F; GeneDx, Gaithersburg, MD 20877, USA., Person R; GeneDx, Gaithersburg, MD 20877, USA., Xie Y; GeneDx, Gaithersburg, MD 20877, USA., Liu S; GeneDx, Gaithersburg, MD 20877, USA., Ousager LB; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark., Larsen M; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark., Schultz-Rogers L; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55902, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA., Berry IR; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds LS1 3EX, UK., Campbell J; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds LS7 4SA, UK., Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016 USA., Pruniski B; Phoenix Children's Hospital, Phoenix, AZ 85016 USA., Neumeyer AM; Massachusetts General Hospital for Children, Harvard Medical School, Boston, MA 02114, USA., Radley JA; Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham B15 2TG, UK; Clinical Genetics, London North West University Healthcare Foundation Trust, London HA1 3UJ, UK., Phornphutkul C; Warren Alpert Medical School of Brown University, Providence, RI 02903, USA., Schmidt B; University of Virginia School of Medicine, Charlottesville, VA 22903, USA., Wilson WG; University of Virginia School of Medicine, Charlottesville, VA 22903, USA., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia., Reinson K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, 50406 Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 50090 Tartu, Estonia., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands., Cuperus R; Department of Paediatrics, Juliana Children's Hospital HAGA, 2545 AA the Hague, the Netherlands., Santos-Simarro F; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain., Palomares-Bralo M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain., Pacio-Míguez M; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, 28029 Madrid, Spain., Ritter A; Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA., Bhoj E; Division of Human Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA., Tønne E; Department of Medical Genetics, Oslo University Hospital, 0450 Oslo, Norway., Tveten K; Department of Medical genetics, Telemark Hospital Trust, 3710 Skien, Norway., Cappuccio G; Department of Translational Medicine, University of Naples 'Federico II,' 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 20129 Pozzuoli, Italy., Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II,' 80138 Naples, Italy; Telethon Institute of Genetics and Medicine, 20129 Pozzuoli, Italy., Rowe L; University of Colorado School of Medicine, Aurora, CO 13001, USA., Bunn J; University of Colorado School of Medicine, Aurora, CO 13001, USA., Saenz M; University of Colorado School of Medicine, Aurora, CO 13001, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Mertens M; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Caluseriu O; Department of Medical Genetics in the Faculty of Medicine & Dentistry, University of Alberta, Edmonton, AB T6G 2R3, Canada., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada., Cohn RD; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada., Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2R3, Canada., Alkhunaizi E; Genetics Program, North York General Hospital, Toronto, ON M2K 1E1, Canada., Chitayat D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, ON M5G 1X5, Canada., Scherer SW; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada., Brunner HG; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands., Vissers LELM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Kleefstra T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands., Koolen DA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands. Electronic address: david.koolen@radboudumc.nl., Weksberg R; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1V7, Canada; Institute of Medical Science, School of Graduate Studies, University of Toronto, Toronto, ON M5S 2Z9, Canada. Electronic address: rweksb@sickkids.ca.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1053-1068. Date of Electronic Publication: 2021 Apr 27.