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Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures.

Autor: Zweier M; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Begemann A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland., McWalter K; GeneDx, Gaithersburg, MD, USA., Cho MT; GeneDx, Gaithersburg, MD, USA., Abela L; Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.; Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Behring B; Department of Pediatrics, Klinikum Nuremberg, Nuremberg, Germany., Berger A; Department of Neuropediatrics, Klinikum Weiden, Kliniken Nordoberpfalz AG, Weiden, Germany., Brown CW; Le Bonheur Children's Hospital, Memphis, TN, USA.; Division of Medical Genetics, Department of Pediatrics, University of Tennessee Health Science Center, Memphis, TN, USA., Carneiro M; Department of Neuropediatrics, Lyon University Hospital, Lyon, France., Chen J; University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Henderson A; Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 3BZ, UK., Hüffmeier U; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Lesca G; Department of Medical Genetics, Lyon University Hospital, Lyon, France.; CNRS UMR 5292, INSERM U1028, Claude Bernard Lyon 1 University, Lyon, France., Leszinski GS; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., McDermott JH; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Meltzer MR; Children's National Health System, Washington, DC, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Mostafavi R; Le Bonheur Children's Hospital, Memphis, TN, USA., Õunap K; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Plecko B; Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland.; Division of Child Neurology, University Children's Hospital Zurich, Zurich, Switzerland.; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria., Powis Z; Ambry Genetics, Aliso Viejo, CA, USA., Purcarin G; University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA., Reimand T; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Biomedicine, Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany., Schreiber JM; Children's National Health System, Washington, DC, USA., Sirsi D; Department of Pediatrics, Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA., Wierenga KJ; University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.; Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, USA., Wojcik MH; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Papuc SM; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Victor Babes National Institute of Pathology, Bucharest, Romania., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Sticht H; Institute of Biochemistry, Emil-Fischer Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.; Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland. anita.rauch@medgen.uzh.ch.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2019 May; Vol. 27 (5), pp. 747-759. Date of Electronic Publication: 2019 Jan 21.

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Autor: Sergeev YV; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. sergeevy@nei.nih.gov, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA

Publikováno v: Human molecular genetics [Hum Mol Genet] 2010 Apr 01; Vol. 19 (7), pp. 1302-13. Date of Electronic Publication: 2010 Jan 08.

A mammalian activity rhythm independent of temperature.

Autor: FOLK GE Jr, MELTZER MR, GRINDELAND RE

Publikováno v: Nature [Nature] 1958 Jun 07; Vol. 181 (4623), pp. 1598.