Zobrazeno 1 - 10
of 74
pro vyhledávání: '"Shieh JT"'
Publikováno v:
Circulation; 7/28/2009, Vol. 120 Issue 4, p269-271, 3p
Publikováno v:
Journal of Pediatric Gastroenterology & Nutrition; 2009 Jul, Vol. 49 Issue 1, p130-132, 3p
Akademický článek
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Autor:
Donatella, Peca, Renata, Boldrini, Jan, Johannson, Joseph T, Shieh, Arianna, Citti, Stefania, Petrini, Teresa, Salerno, Salvatore, Cazzato, Raffaele, Testa, Francesco, Messina, Alfredo, Onofri, Giovanna, Cenacchi, Per, Westermark, Nicola, Ullmann, Nicola, Ullman, Paola, Cogo, Renato, Cutrera, Olivier, Danhaive
Publikováno v:
Peca, D; Boldrini, R; Johannson, J; Shieh, JT; Citti, A; Petrini, S; et al.(2015). Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. European Journal of Human Genetics, 23(8), 1033-1041. doi: 10.1038/ejhg.2015.45. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/0v18j477
Peca, D; Boldrini, R; Johannson, J; Shieh, JT; Citti, A; Petrini, S; et al.(2015). Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. European Journal of Human Genetics. doi: 10.1038/ejhg.2015.45. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/6sd5b5pm
European Journal of Human Genetics, vol 23, iss 8
Peca, D; Boldrini, R; Johannson, J; Shieh, JT; Citti, A; Petrini, S; et al.(2015). Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations. European Journal of Human Genetics. doi: 10.1038/ejhg.2015.45. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/6sd5b5pm
European Journal of Human Genetics, vol 23, iss 8
© 2015 Macmillan Publishers Limited Genetic defects of surfactant metabolism are associated with a broad range of clinical manifestations, from neonatal respiratory distress syndrome to adult interstitial lung disease. Early therapies may improve sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4586f84062bddeee9bb70dfd72837235
http://www.escholarship.org/uc/item/0v18j477
http://www.escholarship.org/uc/item/0v18j477
Autor:
Borroto MC; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Michaud C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Hudon C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Agrawal PB; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Applegate CD; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Bjornsson HT; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.; Department of Genetics and Molecular Medicine, Landspitali University Hospital, 101 Reykjavik, Iceland., Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Chen MJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Curry C; Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA., Devinsky O; Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA., Dudding-Byth T; Hunter Genetics, Newcastle, NSW 2298, Australia., Fagan K; UCSF Benioff Children's Hospital, San Francisco, CA 93940, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA., Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Wojcik MH; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Kruszka P; GeneDx LLC, Gaithersburg, MD 20877, USA., Li H; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Litwin J; Department of Neurology, University of California, San Francisco Benioff Children's Hospital, San Francisco, CA 94158, USA., Marcadier J; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Blackburn PR; Department of Pathology, St. Jude Children's Hospital, Memphis, TN 38105, USA., Reijnders MRF; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Reutter H; Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany., Schanze I; Institute of Human Genetics, 39120 Magdeburg, Germany., Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco Benioff Childen's Hospital, San Francisco, CA 94143, USA., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38103, USA., Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA., van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Publikováno v:
Genes [Genes (Basel)] 2024 Aug 06; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 06.
Autor:
Leng K; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Cadwell CR; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Devine WP; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Tihan T; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Qi Z; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Singhal NS; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Glenn OA; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Kamiya S; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Wiita AP; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Berger AC; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Shieh JT; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Titus EW; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Paredes MF; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco., Upadhyay V; From the Medical Scientist Training Program (K.L., E.W.T.); Department of Pathology (C.R.C., W.P.D., T.T., S.K.); Department of Neurological Surgery (C.R.C.); Weill Institute for Neuroscience (C.R.C., M.F.P.); Department of Laboratory Medicine (Z.Q., A.P.W., E.W.T.); Division of Epilepsy (N.S.S., M.F.P.), Department of Neurology; Department of Radiology and Biomedical Imaging (O.A.G.); Department of Bioengineering and Therapeutic Sciences (A.P.W.), University of California, San Francisco; Chan Zuckerberg Biohub (A.P.W.), San Francisco; Department of Medicine (A.C.B., V.U.), University of California San Francisco; Denali Therapeutics (A.C.B.), South San Francisco; Medical Genetics (J.T.S.), Department of Pediatrics, University of California, San Francisco.
Publikováno v:
Neurology. Genetics [Neurol Genet] 2024 Apr 03; Vol. 10 (2), pp. e200142. Date of Electronic Publication: 2024 Apr 03 (Print Publication: 2024).
Autor:
Shieh JT; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA. Electronic address: joseph.shieh2@ucsf.edu., Tintos-Hernandez JA; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Penon-Portmann M; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA., Flores-Mendez M; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Santana A; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bulos JA; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA., Du K; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Damseh N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Mendoza-Londoño R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Berera C; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, San Francisco, CA 94143, USA., Lee JC; Division of Neuropathology, Department of Pathology, University of California San Francisco, San Francisco, CA 94143, USA., Phillips JJ; Division of Neuropathology, Department of Pathology, University of California San Francisco, San Francisco, CA 94143, USA; Department of Neurological Surgery, University of California San Francisco, San Francisco, CA 94143, USA., Alves CAPF; Division of Neuroradiology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Dmochowski IJ; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104, USA., Ortiz-González XR; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Epilepsy Neurogenetics Initiative (ENGIN), The Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: ortizgonzalez@chop.edu.
Publikováno v:
HGG advances [HGG Adv] 2023 Oct 12; Vol. 4 (4), pp. 100236. Date of Electronic Publication: 2023 Sep 03.
Autor:
Sheppard SE; Center for Applied Genomics.; Division of Human Genetics, and., March ME; Center for Applied Genomics., Seiler C; Zebrafish Core, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Matsuoka LS; Center for Applied Genomics., Kim SE; Center for Applied Genomics., Kao C; Center for Applied Genomics., Rubin AI; Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Battig MR; Center for Applied Genomics., Khalek N; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment and., Schindewolf E; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment and., O'Connor N; Center for Applied Genomics., Pinto E; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Priestley JR; Division of Human Genetics, and., Sanders VR; Division of Human Genetics, and., Niazi R; Genetic Diagnostic Laboratory, Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ganguly A; Genetic Diagnostic Laboratory, Department of Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Hou C; Center for Applied Genomics., Slater D; Center for Applied Genomics., Frieden IJ; Department of Dermatology and., Huynh T; Department of Dermatology and., Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, California, USA., Krantz ID; Division of Human Genetics, and.; Roberts Individualized Medical Genetics Center, Division of Human Genetics., Guerrero JC; Department of Pathology., Surrey LF; Department of Pathology., Biko DM; Department of Radiology., Laje P; Department of Surgery; and., Castelo-Soccio L; Dermatology Section, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Nakano TA; Center for Cancer and Blood Disorders, Children's Hospital Colorado, Aurora, Colorado, USA., Snyder K; Division of Oncology, Cancer Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Smith CL; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Li D; Center for Applied Genomics., Dori Y; Jill and Mark Fishman Center for Lymphatic Disorders, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hakonarson H; Center for Applied Genomics.
Publikováno v:
JCI insight [JCI Insight] 2023 May 08; Vol. 8 (9). Date of Electronic Publication: 2023 May 08.
Autor:
Shieh JT; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, CA, 94143.; These authors contributed equally to this work., Tintos-Hernández JA; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104.; These authors contributed equally to this work., Murali CN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030., Penon-Portmann M; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, CA, 94143., Flores-Mendez M; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104., Santana A; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104., Bulos JA; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104., Du K; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada., Damseh N; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada., Mendoza-Londoño R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, Canada., Berera C; Institute for Human Genetics and Department of Pediatrics, University of California San Francisco, CA, 94143., Lee JC; Division of Neuropathology, Department of Pathology, University of California San Francisco, CA, 94143., Phillips JJ; Division of Neuropathology, Department of Pathology, University of California San Francisco, CA, 94143.; Department of Neurological Surgery, University of California San Francisco, CA, 94143., Alves CAPF; Division of Neuroradiology, Department of Pediatrics, The Children's Hospital of Philadelphia., Dmochowski IJ; Department of Chemistry, University of Pennsylvania, Philadelphia, PA 19104., Ortiz-González XR; Division of Neurology and Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104.; Epilepsy Neurogenetics Initiative (ENGIN), The Children's Hospital of Philadelphia and Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Jan 31. Date of Electronic Publication: 2023 Jan 31.
Autor:
Penon-Portmann M; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA., Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Harel T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Loucks H; Department of Pediatrics, University of Washington, Seattle, WA, USA., Devine WP; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA., Van Ziffle J; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA., Doherty D; Department of Pediatrics, University of Washington, Seattle, WA, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Shieh JT; Institute for Human Genetics, University of California San Francisco, San Francisco, California, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2022 Aug; Vol. 188 (8), pp. 2360-2366. Date of Electronic Publication: 2022 Jun 25.