부산대학교 도서관

Cheerie D; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Lauffer MC; Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Newton L; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Amburgey K; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Division of Neurology, Hospital for Sick Children, Toronto, ON, Canada.; Beijer D; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Haque B; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Kalish BT; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA.; Meserve MM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Oh RY; Department of Paediatrics, University of Toronto, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Pan AY; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Reuter MS; Department of Paediatrics, University of Toronto, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Szego MJ; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada; Department of Family and Community Medicine, University of Toronto, ON, Canada.; Szuto A; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Aartsma-Rus A; Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Axford MM; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Deshwar AR; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Department of Paediatrics, University of Toronto, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; Program in Developmental and Stem Cell Biology, SickKids Research Institute, Toronto, ON, Canada.; Dowling JJ; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Division of Neurology, Hospital for Sick Children, Toronto, ON, Canada; Department of Paediatrics, University of Toronto, Toronto, ON, Canada.; Marshall CR; Department of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Ivakine Z; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Department of Physiology, University of Toronto, Toronto, ON, Canada.; Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.; Costain G; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada; Department of Paediatrics, University of Toronto, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada; The Centre for Applied Genomics, SickKids Research Institute, Toronto, ON, Canada. Electronic address: gregory.costain@sickkids.ca.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Oh, Rachel Y. ; AlMail, Ali ; Cheerie, David ; Guirguis, George ; Hou, Huayun ; Yuki, Kyoko E. ; Haque, Bushra ; Thiruvahindrapuram, Bhooma ; Marshall, Christian R. ; Mendoza-Londono, Roberto ; Shlien, Adam ; Kyriakopoulou, Lianna G. ; Walker, Susan ; Dowling, James J. ; Wilson, Michael D. ; Costain, Gregory

In Human Genetics and Genomics Advances 18 July 2024 5(3)

Haque B; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Cheerie D; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Pan A; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Curtis M; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Nalpathamkalam T; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Nguyen J; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Salhab C; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Thiruvahindrapuram B; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Zhang J; Human Biology Program, University of Toronto, Toronto, Ontario, Canada.; Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Morrow MM; GeneDx, Gaithersburg, Maryland, United States of America.; Price EM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Walker S; Genomics England, London, United Kingdom.; Malkin D; Division of Haematology/Oncology, The Hospital for Sick Children, Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.; Roth FP; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; Donnelly Centre for Cellular and Biomolecular Research (CCBR), University of Toronto, Toronto, Ontario, Canada.; Lunenfeld-Tanenbaum Research Institute (LTRI), Sinai Health System, Toronto, Ontario, Canada.; Center for Cancer Systems Biology (CCSB), Dana-Farber Cancer Institute, Boston, Massachusetts, United States of America.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada.; Costain G; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, and Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Cheerie D; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada. Electronic address: david.cheerie@sickkids.ca.; Meserve MM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Beijer D; Division of Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.; Kaiwar C; Clinical Molecular Geneticist, Department of Pathology and Laboratory Medicine, Precision Diagnostics Laboratory, Children's Hospital Colorado, Aurora, CO 80045, USA.; Newton L; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Taylor Tavares AL; Genomics England, London E14 5AB, UK; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire CB2 0QQ, UK.; Verran AS; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Sherrill E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Leonard S; N=1 Collaborative, 7 Carole Place, Somerville, MA 02143, USA.; Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Pediatrics, University of Oxford, Oxford OX3 7TY, UK; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA; New York Genome Center, New York, NY 10013, USA.; Blake E; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA.; Elkhateeb N; Genomics England, London E14 5AB, UK; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, Cambridgeshire CB2 0QQ, UK.; Gandhi A; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Liang NSY; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Genetic Counselling, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Morgan JT; Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZA, the Netherlands.; Verwillow A; Center for Genomic Medicine, Massachusetts General Hospital, 55 Fruit Street, Boston, MA 02114, USA.; Verheijen J; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT 84112, USA; ARUP Laboratories, Salt Lake City, UT 84108, USA.; Giles A; Ambry Genetics, 1 Enterprise, Aliso Viejo, CA 92656, USA.; Williams S; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA.; Croft L; Centre for Genomics and Personalised Health, School of Biomedical Sciences, Faculty of Health, Queensland University of Technology, Brisbane, QLD 4001, Australia.; Dafsari HS; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany; Max-Planck-Institute for Biology of Ageing and Cologne Excellence Cluster for Ageing-associated Diseases, 50931 Cologne, Germany; Randall Division of Cell and Molecular Biophysics, Muscle Signaling Section, King's College London, London WC2R 2LS, UK.; Davidson AE; University College London Institute of Ophthalmology, London EC1V 9EL, UK; UK Platform for Nucleic Acid Therapies (UpNAT), London, UK.; Friedman J; Departments of Neurosciences and Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Division of Neurology, Rady Children's Hospital, Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Gregor A; Department of Human Genetics, Inselspital University Hospital Bern, University of Bern, 3010 Bern, Switzerland; Department for Biomedical Research, University of Bern, 3010 Bern, Switzerland.; Haque B; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Lechner R; Department of Clinical Genetics, Erasmus MC, Rotterdam 3015 CN, the Netherlands; Center of Expertise for Neurodevelopmental Disorders (ENCORE), Erasmus MC, Rotterdam 3015 CN, the Netherlands.; Montgomery KA; UK Platform for Nucleic Acid Therapies (UpNAT), London, UK; Great Ormond Institute of Child Health and Queen Square Institute of Neurology, University College London, London WC1N 1EH, UK.; Ryten M; UK Platform for Nucleic Acid Therapies (UpNAT), London, UK; Dementia Research Institute, University of Cambridge, Cambridge CB2 0AH, UK.; Schober E; Department of Pediatrics and Center for Rare Diseases, Faculty of Medicine and University Hospital Cologne, University of Cologne, 50937 Cologne, Germany; Max-Planck-Institute for Biology of Ageing and Cologne Excellence Cluster for Ageing-associated Diseases, 50931 Cologne, Germany.; Siegel G; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Sullivan PJ; Children's Cancer Institute, Lowy Cancer Research Centre, UNSW Sydney, Sydney, NSW 2033, Australia.; Whittle EF; UK Platform for Nucleic Acid Therapies (UpNAT), London, UK; Genetics and Genomic Medicine Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Zardetto B; Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZA, the Netherlands.; Yu TW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.; Synofzik M; Division of Translational Genomics of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, 72076 Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), 72076 Tübingen, Germany.; Aartsma-Rus A; Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZA, the Netherlands.; Costain G; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.; Lauffer MC; Dutch Center for RNA Therapeutics, Department of Human Genetics, Leiden University Medical Center, Leiden 2333 ZA, the Netherlands. Electronic address: m.c.lauffer@lumc.nl.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Haque B; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Cheerie D; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Birkadze S; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Xu AL; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Nalpathamkalam T; The Centre for Applied Genomics (TCAG), SickKids Research Institute, Toronto, ON, Canada.; Thiruvahindrapuram B; The Centre for Applied Genomics (TCAG), SickKids Research Institute, Toronto, ON, Canada.; Walker S; The Centre for Applied Genomics (TCAG), SickKids Research Institute, Toronto, ON, Canada.; Costain G; Program in Genetics & Genome Biology, SickKids Research Institute, Toronto, ON, Canada. gregory.costain@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. gregory.costain@sickkids.ca.; Division of Clinical & Metabolic Genetics, The Hospital for Sick Children (SickKids), and Department of Paediatrics, University of Toronto, Toronto, ON, Canada. gregory.costain@sickkids.ca.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Kurucová R; Author Affiliations: Nurse Educator (Dr Kurucová), Researcher (Dr Kohanová), and Professor (Dr Žiaková), Department of Nursing, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Slovak Republic.; Kohanová D; Žiaková K

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 1263116 Publication Model: Print Cited Medium: Internet ISSN: 1539-0721 (Electronic) Linking ISSN: 00020443 NLM ISO Abbreviation: J Nurs Adm Subsets: MEDLINE

Oh, Rachel Youjin; Almail, Ali; Cheerie, David; Guirguis, George; Hou, Huayun; Yuki, Kyoko; Haque, Bushra; Thiruvahindrapuram, Bhooma; Walker, Susan; Kyriakopoulou, Lianna; Marshall, Christian; Wilson, Michael; Dowling, James; Costain, Gregory

EUROPEAN JOURNAL OF HUMAN GENETICS; JAN 2024, 32 p595-p595, 1p. Supplement: 1