Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.

Autor: Jones AG; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Aquilino M; Neuroscience Center, HiLIFE - Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Tinker RJ; Vanderbilt University Medical Center, Nashville, TN, USA., Duncan L; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA., Jenkins Z; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Carvill GL; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., DeWard SJ; GeneDx, Gaithersburg, MD, USA., Grange DK; Washington University, St. Louis, Missouri, USA., Hajianpour MJ; Albany Medical College, Albany, NY, USA., Halliday BJ; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Holder-Espinasse M; Department of Clinical Genetics, Guys Hospital, London, UK., Horvath J; Münster University Hospital, Münster, Germany., Maitz S; Medical Genetics Service, Oncology Department of Southern Switzerland, Ente Ospedaliero Cantonale, Lugano, Switzerland., Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Morleo M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy., Paul V; Münster University Hospital, Münster, Germany., Spencer C; Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; Department of Medicine, Division of Human Genetics, Groote Schuur Hospital, Cape Town, South Africa., Esterhuizen AI; Division of Human Genetics, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; Neuroscience Institute, University of Cape Town, Cape Town, South Africa; National Health Laboratory Service, Groote Schuur Hospital, Cape Town, South Africa., Polster T; Department of Epileptology (Krankenhaus Mara, Bethel Epilepsy Center) Medical School OWL, Bielefeld University, Bielefeld, Germany., Spano A; Maggiore Della Carità Hospital, Novara, Italy., Gómez-Lozano I; Neuroscience Center, HiLIFE - Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Kumar A; Centre for Protein Research, University of Otago, Dunedin, New Zealand., Poke G; Genetics Health Service New Zealand, Wellington Hospital, Wellington, New Zealand., Phillips JA 3rd; Vanderbilt University Medical Center, Nashville, TN, USA., Underhill HR; University of Utah, Salt Lake City, UT, USA., Gimenez G; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Namba T; Neuroscience Center, HiLIFE - Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand. Electronic address: stephen.robertson@otago.ac.nz.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Apr 04; Vol. 111 (4), pp. 729-741.

CRB2 mutations produce a phenotype resembling congenital nephrosis, Finnish type, with cerebral ventriculomegaly and raised alpha-fetoprotein.

Autor: Slavotinek A; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143-2711, USA; Institute for Human Genetics, University of California, San Francisco, 513 Parnassus Avenue, San Francisco, CA 94143-0794, USA. Electronic address: slavotia@ucsf.edu., Kaylor J; Molecular Genetics Pathology Laboratory, Arkansas Children's Hospital, 1 Children's Way, Slot 820, Little Rock, AR 72202, USA., Pierce H; GeneDx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA., Cahr M; Division of Medical Genetics, Icahn School of Medicine at Mount Sinai & Mount Sinai Medical Center, 1 Gustave Levy Place, New York, NY 10029, USA., DeWard SJ; GeneDx, Inc., 207 Perry Parkway, Gaithersburg, MD 20877, USA., Schneidman-Duhovny D; Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA 94158, USA; Department of Pharmaceutical Chemistry, University of California, San Francisco, San Francisco, CA 94158, USA., Alsadah A; Department of Pediatrics, Division of Genetics, University of California, San Francisco, San Francisco, CA 94143-2711, USA., Salem F; Department of Pathology, Icahn School of Medicine at Mount Sinai & Mount Sinai Medical Center, 1 Gustave Levy Place, New York, NY 10029, USA., Schmajuk G; Division of Rheumatology, Department of Medicine, UCSF and the San Francisco VA Hospital, 4150 Clement St, Mailstop 111R, San Francisco, CA 94121, USA., Mehta L; Division of Medical Genetics, Icahn School of Medicine at Mount Sinai & Mount Sinai Medical Center, 1 Gustave Levy Place, New York, NY 10029, USA.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2015 Jan 08; Vol. 96 (1), pp. 162-9. Date of Electronic Publication: 2014 Dec 31.

Practical aspects of recruitment and retention in clinical trials of rare genetic diseases: the phenylketonuria (PKU) experience.

Autor: DeWard SJ; Children's Hospital of Pittsburgh of UPMC, University of Pittsburgh, 4401 Penn Ave., Pittsburgh, PA, 15224, USA, stephanie.deward@chp.edu., Wilson A, Bausell H, Volz AS, Mooney K

Publikováno v: Journal of genetic counseling [J Genet Couns] 2014 Feb; Vol. 23 (1), pp. 20-8. Date of Electronic Publication: 2013 Sep 08.

Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.

Autor: Hu J; Pittsburgh Cytogenetics Laboratory, Magee-Womens Hospital of UPMC and Department of Obstetrics, Gynecology & Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA., Madan-Khetarpal S, Serrano Russi AH, Kochmar S, Deward SJ, Sathanoori M, Surti U

Publikováno v: Genetics research international [Genet Res Int] 2011; Vol. 2011, pp. 185271. Date of Electronic Publication: 2011 Jul 17.