Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy.

Autor: Finezilber Y; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK., Massey C; Therapy and Rehabilitation, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Trust, London, UK.; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK., Radley JA; London North West Healthcare Regional Genetics Service, Northwick Park Hospital, London, UK., Murphy E; Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, University College London NHS Foundation Trust, London, UK Elaine.murphy8@nhs.net.

Publikováno v: Practical neurology [Pract Neurol] 2024 Sep 13; Vol. 24 (5), pp. 413-416. Date of Electronic Publication: 2024 Sep 13.

ImprintSeq, a novel tool to interrogate DNA methylation at human imprinted regions and diagnose multilocus imprinting disturbance.

Autor: Ochoa E; Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Lee S; Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Lan-Leung B; Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Dias RP; Department of Endocrinology and Diabetes, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom; Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Ong KK; MRC Epidemiology Unit, Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom; Department of Paediatrics, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Radley JA; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom; London North West Regional Genetics Service, St. Mark's and Northwick Park hospitals, Harrow, Middlesex, United Kingdom., Pérez de Nanclares G; Biocruces Bizkaia Health Research Institute, Hospital Universitario Cruces, CIBERDEM, CIBERER, Endo-ERN, University of the Basque Country (UPV-EHU), Bizkaia, Spain., Martinez R; Biocruces Bizkaia Health Research Institute, Hospital Universitario Cruces, CIBERDEM, CIBERER, Endo-ERN, University of the Basque Country (UPV-EHU), Bizkaia, Spain., Clark G; Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom; Stratified Medicine Core Laboratory NGS Hub, Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom., Martin E; Stratified Medicine Core Laboratory NGS Hub, Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom., Castaño L; Biocruces Bizkaia Health Research Institute, Hospital Universitario Cruces, CIBERDEM, CIBERER, Endo-ERN, University of the Basque Country (UPV-EHU), Bizkaia, Spain., Bottolo L; Department of Medical Genetics, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom; The Alan Turing Institute, London, United Kingdom; MRC Biostatistics Unit, School of Clinical Medicine, University of Cambridge, Cambridge, United Kingdom., Maher ER; Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom. Electronic address: erm1000@medschl.cam.ac.uk.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Feb; Vol. 24 (2), pp. 463-474. Date of Electronic Publication: 2021 Dec 03.

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.

Is 15q11.2 microdeletion associated with periventricular nodular heterotopia?

Autor: Radley JA; Department of Clinical Genetics, University Hospitals of Leicester NHS Trust, Leicester, UK., Vasudevan PC

Publikováno v: Clinical dysmorphology [Clin Dysmorphol] 2015 Oct; Vol. 24 (4), pp. 156-8.

Recent biological applications of fluorescence analysis.

Autor: RADLEY JA

Publikováno v: Manufacturing chemist and aerosol news [Manuf Chem Aerosol News] 1948 May; Vol. 19 (5), pp. 193-6.