부산대학교 도서관

Schiller, J.; Towne, M.C.; Epstein, R.; Suslovitch, V.; Thornton, J.K.

In: Journal of Genetic Counseling. (Journal of Genetic Counseling, April 2024, 33(2):301-313)

Aartsma-Rus, A.; Garanto, A.; Roon-Mom, W. Van; McConnell, E.M.; Suslovitch, V.; Yan, W.X.; Watts, J.K.; Yu, T.W.

Nucleic Acid Therapeutics; 17; 25; 2159-3337; 1; 33; ~Nucleic Acid Therapeutics~17~25~~~2159-3337~1~33~~

Kim, J.; Woo, S.; de Gusmao, C.M.; Friedman, D.A.; El Achkar, C.M.; Zhao, B.; Chin, D.H.; DiDonato, R.L.; Nguyen, M.A.; Nakayama, T.; Hu, C.A.; Soucy, A.; Riccardi, O.; Dash, Z.; Faour, K.N.W.; Bush, L.W.; Suslovitch, V.; Lentucci, C.; Lee, E.A.; Yu, T.W.; Patterson, A.; Berde, C.B.; Kuniholm, A.; Thornton, J.K.; Margus, B.; Cornelissen, L.; Donado, C.; Park, P.J.; Philippakis, A.A.

In: Nature. (Nature, 27 July 2023, 619(7971):828-836)

Harris, H.K.; Nakayama, T.; Lai, J.; Zhao, B.; Argyrou, N.; Gubbels, C.S.; Soucy, A.; Genetti, C.A.; Suslovitch, V.; Rodan, L.H.; Tiller, G.E.; Lesca, G.; Gripp, K.W.; Asadollahi, R.; Hamosh, A.; Applegate, C.D.; Turnpenny, P.D.; Simon, M.E.; Volker-Touw, C.M.; Gassen, K. van; Binsbergen, E.V.; Pfundt, R.P.; Gardeitchik, T.; Vries, B.B. de; Immken, L.L.; Buchanan, C.; Willing, M.; Toler, T.L.; Fassi, E.; Baker, L.; Vansenne, F.; Wang, X; Ambrus, J.L., Jr.; Fannemel, M.; Posey, J.E.; Agolini, E.; Novelli, A.; Rauch, A.; Boonsawat, P.; Fagerberg, C.R.; Larsen, M.J.; Kibaek, M.; Labalme, A.; Poisson, A.; Payne, K.K.; Walsh, L.E.; Aldinger, K.A.; Balciuniene, J.; Skraban, C.; Gray, C.; Murrell, J.; Bupp, C.P.; Pascolini, G.; Grammatico, P.; Broly, M.; Küry, S.; Nizon, M.; Rasool, I.G.; Zahoor, M.Y.; Kraus, C.; Reis, A.; Iqbal, M.; Uguen, K.; Audebert-Bellanger, S.; Ferec, C.; Redon, S.; Baker, J.; Wu, Y.; Zampino, G.; Syrbe, S.; Brosse, I.; Jamra, R.A.; Dobyns, W.B.; Cohen, L.L.; Blomhoff, A.; Mignot, C.; Keren, B.; Courtin, T.; Agrawal, P.B.; Beggs, A.H.; Yu, T.W.

Genetics in Medicine; 1028; 1040; 1098-3600; 6; 23; ~Genetics in Medicine~1028~1040~~~1098-3600~6~23~~

Aartsma-Rus A; Dutch Center for RNA Therapeutics, the Netherlands.; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; N = 1 Collaborative.; Garanto A; Dutch Center for RNA Therapeutics, the Netherlands.; Department of Pediatrics and Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.; van Roon-Mom W; Dutch Center for RNA Therapeutics, the Netherlands.; Department of Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; McConnell EM; N = 1 Collaborative.; Suslovitch V; N = 1 Collaborative.; Department of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Yan WX; N = 1 Collaborative.; Watts JK; RNA Therapeutics Institute, UMass Chan Medical School, Worcester, Massachusetts, USA.; Yu TW; N = 1 Collaborative.; Department of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Division of Genetics and Genomics, Boston, Massachusetts, USA.

Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101562758 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2159-3345 (Electronic) Linking ISSN: 21593337 NLM ISO Abbreviation: Nucleic Acid Ther Subsets: MEDLINE

Harris HK; Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Baylor College of Medicine and Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, TX, USA.; Nakayama T; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Lai J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Neuroscience, Harvard University, Boston, MA, USA.; Zhao B; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Argyrou N; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Gubbels CS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Soucy A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Genetti CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Suslovitch V; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Rodan LH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA.; Lesca G; Department of Medical Genetics, Lyon University Hospital, Bron, France.; Gripp KW; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA.; Asadollahi R; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Applegate CD; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Turnpenny PD; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Simon MEH; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Volker-Touw CML; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Gassen KLIV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Binsbergen EV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Pfundt R; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Gardeitchik T; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Vries BBA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Immken LL; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA.; Buchanan C; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA.; Willing M; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Toler TL; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Fassi E; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Baker L; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA.; Vansenne F; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Wang X; Ciphergene, Beijing, China.; Ambrus JL Jr; Division of Allergy, Immunology, and Rheumatology, SUNY at Buffalo School of Medicine, Buffalo, NY, USA.; Fannemel M; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Agolini E; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Boonsawat P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland.; Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Kibaek M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Labalme A; Department of Medical Genetics, Lyon University Hospital, Bron, France.; Poisson A; Department of Medical Genetics, Lyon University Hospital, Bron, France.; Payne KK; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA.; Walsh LE; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA.; Department of Medical and Molecular Genetics, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA.; Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Skraban C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Gray C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Murrell J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Bupp CP; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Pascolini G; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy.; Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy.; Broly M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France.; Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France.; Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France.; Rasool IG; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany.; Zahoor MY; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.; Kraus C; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany.; Reis A; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany.; Iqbal M; Department of Biochemistry and Biotechnology, The Islamia University of Bahawalpur, Punjab, Pakistan.; Uguen K; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Audebert-Bellanger S; Department of Medical Genetics, Brest University Hospital, Brest, France.; Ferec C; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Redon S; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Baker J; Department of Genomic Medicine, Children's Minnesota, Minneapolis, MN, USA.; Wu Y; Shanxi Children's Hospital, Taiyuan, China.; Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Universita Cattolica del Sacro Cuore, Rome, Italy.; Syrbe S; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Brosse I; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Dobyns WB; Departments of Pediatrics and Genetics, University of Minnesota, Minneapolis, MN, USA.; Cohen LL; Division of Medical Genetics, Weill Cornell Medical College, New York, NY, USA.; Blomhoff A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Mignot C; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Keren B; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Courtin T; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Beggs AH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Program in Neuroscience, Harvard University, Boston, MA, USA. timothy.yu@childrens.harvard.edu.

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