부산대학교 도서관

Hough SH; Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK.; The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK.; Jhujh SS; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Awwad SW; Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK.; The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK.; Lewis OE; Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK.; Lam S; Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK.; The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK.; Thomas JC; The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK.; Mosler T; Institute of Molecular Biology (IMB), Chromatin Biology & Proteomics, Mainz, Germany.; Bader A; Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK.; The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK.; Bartik L; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA.; Kansas City School of Medicine, University of Missouri, Kansas City, MO, USA.; McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, BT9 7AB, UK.; Amudhavalli S; Kansas City School of Medicine, University of Missouri, Kansas City, MO, USA.; Department of Pathology & Genetics, Children's Mercy Hospital, Kansas City, MO, USA.; Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Université Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Damseh N; Department of Pediatrics, Makassed Hospital and Al-Quds University, East Jerusalem, Palestine.; Clement E; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Cacheiro P; William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Majumdar A; Department of Paediatric Neurology, Bristol Children's Hospital, Bristol, UK.; Smedley D; William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Fluss J; Pediatric Neurology Unit, University Children's Hospital Geneva, Geneva, Switzerland.; Giannini R; Division of Medical Genetics, Diagnostics Department, Geneva University Hospitals, Geneva, Switzerland.; Thiffault I; Department of Pathology & Genetics, Children's Mercy Hospital, Kansas City, MO, USA.; Genomic Medicine Center, Children's Mercy Hospital and Research Institute, Kansas City, MO, USA.; Faculty of Medicine, University of Missouri-Kansas City, Kansas City, MO, USA.; Zagnoli Vieira G; The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK.; Belotserkovskaya R; Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK.; The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK.; Smerdon SJ; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.; Beli P; Institute of Molecular Biology (IMB), Chromatin Biology & Proteomics, Mainz, Germany.; Institute of Developmental Biology and Neurobiology (IDN), Johannes Gutenberg-Universität, Mainz, Germany.; Galanty Y; Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK. yaron.galanty@cruk.cam.ac.uk.; The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK. yaron.galanty@cruk.cam.ac.uk.; Carnie CJ; Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK. christopherjames.carnie@med.uni-heidelberg.de.; The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK. christopherjames.carnie@med.uni-heidelberg.de.; Molecular Medicine Partnership Unit (MMPU), Heidelberg University and European Molecular Biology Laboratory (EMBL), Heidelberg, Germany. christopherjames.carnie@med.uni-heidelberg.de.; Department of Pediatric Oncology, Hematology and Immunology, Heidelberg University Hospital, Heidelberg, Germany. christopherjames.carnie@med.uni-heidelberg.de.; Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany. christopherjames.carnie@med.uni-heidelberg.de.; Stewart GS; Institute of Cancer and Genomic Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK. g.s.stewart@bham.ac.uk.; Jackson SP; Cancer Research UK Cambridge Institute, Li Ka Shing Building, Robinson Way, Cambridge, CB2 0RE, UK. steve.jackson@cruk.cam.ac.uk.; The Gurdon Institute and Department of Biochemistry, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QN, UK. steve.jackson@cruk.cam.ac.uk.

Publisher: EMBO Press Country of Publication: Germany NLM ID: 101487380 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1757-4684 (Electronic) Linking ISSN: 17574676 NLM ISO Abbreviation: EMBO Mol Med Subsets: MEDLINE

Kalm, T.; Schob, C.; Völler, H.; Gardeitchik, T.; Gilissen, C.; Pfundt, R.P.; Klöckner, C.; Platzer, K.; Klabunde-Cherwon, A.; Ries, M.; Syrbe, S.; Beccaria, Francesca; Madia, F.; Scala, M.; Zara, F.; Hofstede, F.; Simon, M.E.; van Jaarsveld, R.H.; Oegema, R.; van Gassen, K.L.I.; Holwerda, S.J.B.; Barakat, T.S.; Bouman, A.; van Slegtenhorst, M.; Álvarez, S.; Fernández-Jaén, A.; Porta, J.; Accogli, A.; Mancardi, M.M.; Striano, P.; Iacomino, M.; Chae, J.H.; Jang, SeSong; Kim, S.Y.; Chitayat, D.; Mercimek-Andrews, S.; Depienne, C.; Kampmeier, A.; Kuechler, A.; Surowy, H.; Bertini, E.S.; Radio, F.C.; Mancini, C.; Pizzi, S.; Tartaglia, M.; Gauthier, L.; Genevieve, D.; Tharreau, M.; Azoulay, N.; Zaks-Hoffer, G.; Gilad, N.K.; Orenstein, N.; Bernard, G.; Thiffault, I.; Denecke, J.; Herget, T.; Kortüm, F.; Kubisch, C.; Bähring, R.; Kindler, S.

Am J Hum Genet
American Journal of Human Genetics, 111, 6, pp. 1206-1221

Wojcik MH; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Clark RD; Division of Clinical Genetics, Loma Linda University Children's Hospital and Loma Linda University School of Medicine, Loma Linda, CA, USA.; Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT, USA; Division of Biological Sciences, University of Montana, Missoula, MT, USA; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA.; Genetti CA; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Madden JA; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Simpson D; Randall Children's Hospital, Portland, OR, USA.; Golkar L; Department of Dermatology, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Zalusky MPG; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Miller AL; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Rodriguez A; Division of Clinical Genetics, Loma Linda University Children's Hospital and Loma Linda University School of Medicine, Loma Linda, CA, USA.; Goffena J; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Dash CA; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Damaraju N; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Gibson SB; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Storz SHR; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Anderson ZB; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA.; Gustafson JA; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Molecular and Cellular Biology Program, University of Washington, Seattle, WA, USA.; Thiffault I; Children's Mercy Hospital, Kansas City, MO, USA.; Farrow EG; Children's Mercy Hospital, Kansas City, MO, USA.; Pastinen T; Children's Mercy Hospital, Kansas City, MO, USA.; Lin J; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Huang JT; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Beggs AH; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Agrawal PB; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Miller DT; Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Miller DE; Division of Genetic Medicine, Department of Pediatrics, University of Washington and Seattle Children's Hospital, Seattle, WA, USA; Department of Genome Sciences, University of Washington, Seattle, WA, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA, USA; Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA, USA. Electronic address: dm1@uw.edu.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

McCormick E. M.; Keller K.; Taylor J. P.; Coffey A. J.; Shen L.; Krotoski D.; Harding B.; Alves C. A. P. F.; Ardissone A.; Bai R.; de Barcelos I. P.; Bertini E.; Bluske K.; Christodoulou J.; Clause A. R.; Copeland W. C.; Diaz G. A.; Diodato D.; Dulik M. C.; Enns G.; Feigenbaum A.; Fratter C.; Ghezzi D.; Goldstein A.; Gropman A.; Haas R.; Karaa A.; Koenig M. K.; Monteleone B.; Parikh S.; Duenas B. P.; Rajkumar R.; Saada A.; Saneto R. P.; Sergeant K.; Shoffner J.; Smith C.; Stanley C.; Thiffault I.; Thorburn D.; Walker M.; Wallace D.; Wong L. -J.; Gai X.; Falk M. J.; Zolkipli-Cunningham Z.; Rahman S.

Annals of Neurology. 94:696-712

Liu, Z. G.; Xin, B. Z.; Smith, I. N.; Sency, V.; Szekely, J.; Alkelai, A.; Shuldiner, A.; Efthymiou, S.; Rajabi, F.; Coury, S.; Brownstein, C. A.; Rudnik-Schoeneborn, S.; Bruel, A. L.; Thevenon, J.; Zeidler, S.; Jayakar, P.; Schmidt, A.; Cremer, K.; Engels, H.; Peters, S. O.; Zaki, M. S.; Duan, R. Z.; Zhu, Changlian, 1964; Xu, Y. R.; Gao, C.; Sepulveda-Morales, T.; Maroofian, R.; Alkhawaja, I. A.; Khawaja, M.; Alhalasah, H.; Houlden, H.; Madden, J. A.; Turchetti, V.; Marafi, D.; Agrawal, P. B.; Schatz, U.; Rotenberg, A.; Rotenberg, J.; Mancini, G. M. S.; Bakhtiari, S.; Kruer, M.; Thiffault, I.; Hirsch, S.; Hempel, M.; Stuehn, L. G.; Haack, T. B.; Posey, J. E.; Lupski, J. R.; Lee, H. Y. P.; Sarn, N. B.; Eng, C.; Gonzaga-Jauregui, C.; Zhang, B.; Wang, H.

Human Molecular Genetics. 32(20):2981-2995

Helman, G.; Mendes, M. I.; Nicita, F.; Darbelli, L.; Sherbini, O.; Moore, T.; Derksen, A.; Amy, Pizzino; Carrozzo, R.; Torraco, A.; Catteruccia, M.; Aiello, C.; Goffrini, P.; Figuccia, S.; Smith, D. E. C.; Hadzsiev, K.; Hahn, A.; Biskup, S.; Brösse, I.; Kotzaeridou, U.; Gauck, D.; Grebe, T. A.; Elmslie, F.; Stals, K.; Gupta, R.; Bertini, E.; Thiffault, I.; Taft, R. J.; Schiffmann, R.; Brandl, U.; Haack, T. B.; Salomons, G. S.; Simons, C.; Bernard, G.; van der Knaap, M. S.; Vanderver, A.; Husain, R. A.

Helman, G, Mendes, M I, Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I, Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault, I, Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, 'Expanded phenotype of AARS1-related white matter disease', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359. https://doi.org/10.1038/s41436-021-01286-8

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Global Change Biology. 26(1):119-188

Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.; Farrow E; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.; Barrett C; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Scott M; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Ross A; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Means JC; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Cheung WA; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Johnson AF; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Koseva B; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; McLennan R; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Grundberg E; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Bi C; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Schwendinger-Schreck C; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Yoo B; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Johnston JJ; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.; Del Viso F; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.; Paolillo V; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.; Herriges J; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.; Zhang L; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.; Gibson M; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.; Cohen ASA; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.; Alaimo J; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.; Saunders CJ; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri.; Pastinen T; Genomic Medicine Center, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589544 Publication Model: Print Cited Medium: Internet ISSN: 2168-6211 (Electronic) Linking ISSN: 21686203 NLM ISO Abbreviation: JAMA Pediatr Subsets: MEDLINE; In Process

Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Price EM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Buske OJ; PhenoTips, Toronto, Canada.; Frew M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Klamann C; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Le HGBH; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Xu J; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; So D; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Jain A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Lu K; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Mo K; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Wyllie H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Wall E; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Driver HG; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Cheung WA; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; Cohen ASA; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Farrow EG; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Consortium CRC; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Turinsky AL; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri, USA.; Children's Mercy Research Institute, Kansas City, Missouri, USA.; Brudno M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; PhenoTips, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; UHN DATA Team, University Health Network, Toronto, Canada.; Department of Computer Science, University of Toronto, Toronto, Canada.; Vector Institute, Toronto, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Chen, Xiao; Harting, John; Farrow, E.; Thiffault, I.; Kasperaviciute, Dalia; Hoischen, A.; Gilissen, C.; Pastinen, T.; Eberle, Michael A.

Am J Hum Genet
American Journal of Human Genetics, 110, 2, pp. 240-250

K. Chapman; N. Thiffault; D. Gouge; H.D. Deighton; I. Allen; F.W. Bell; C.B. Edge; R.L. Fleming; D. Flood; M.K. Hoepting; G.J. Kayahara; C. McDonell; D.M. Morris; J. Tallman; L.A. Venier

The Forestry Chronicle, Vol 100, Iss 1, Pp 128-138 (2024)

Fasham, J.; Lin, S.; Ghosh, P.; Radio, F. C.; Farrow, E. G.; Thiffault, I.; Kussman, J.; Zhou, D.; Hemming, R.; Zahka, K.; Chioza, B. A.; Rawlins, L. E.; Wenger, O. K.; Gunning, A. C.; Pizzi, S.; Onesimo, R.; Zampino, G.; Barker, E.; Osawa, N.; Rodriguez, M. C.; Neuhann, T. M.; Zackai, E. H.; Keena, B.; Capasso, J.; Levin, A. V.; Bhoj, E.; Li, D.; Hakonarson, H.; Wentzensen, I. M.; Jackson, A.; Chandler, K. E.; Coban-Akdemir, Z. H.; Posey, J. E.; Banka, S.; Lupski, J. R.; Sheppard, S. E.; Tartaglia, M.; Triggs-Raine, B.; Crosby, A. H.; Baple, E. L.

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Genetics in Medicine

Chen X; PacBio, Menlo Park, CA, USA. xchen@pacificbiosciences.com.; Baker D; PacBio, Menlo Park, CA, USA.; Dolzhenko E; PacBio, Menlo Park, CA, USA.; Devaney JM; GeneDx, Gaithersburg, MD, USA.; Noya J; GeneDx, Gaithersburg, MD, USA.; Berlyoung AS; GeneDx, Gaithersburg, MD, USA.; Brandon R; GeneDx, Gaithersburg, MD, USA.; Hruska KS; GeneDx, Gaithersburg, MD, USA.; Lochovsky L; GeneDx, Gaithersburg, MD, USA.; Kruszka P; GeneDx, Gaithersburg, MD, USA.; Newman S; GeneDx, Gaithersburg, MD, USA.; Farrow E; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA.; Thiffault I; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, MO, USA.; Pastinen T; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, MO, USA.; UMKC School of Medicine, University of Missouri Kansas City, Kansas City, MO, USA.; Kasperaviciute D; Genomics England Ltd., London, UK.; Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Vissers L; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Center for Infectious Diseases (RCI), Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Expertise Center for Immunodeficiency and Autoinflammation and Radboud Center for Infectious Disease (RCI), Radboud University Medical Center, Nijmegen, The Netherlands.; Berger S; Center for Genetics Medicine Research, Children's National Hospital, Washington, DC, USA.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.; Délot E; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.; Eberle MA; PacBio, Menlo Park, CA, USA. meberle@pacificbiosciences.com.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Mokhtari A; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.; Charbonneau J; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.; Miranda V; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.; Jizi K; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.; Delrue MA; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.; Egerszegi P; Division of Plastic Surgery, Department of Surgery, CHU Sainte-Justine, Quebec, Canada.; Thiffault I; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Campeau PM; Division of Medical Genetics, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

van Voorst RJ; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, The Netherlands.; Schoenmakers DH; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, The Netherlands.; Department of Endocrinology and Metabolism, Platform 'Medicine for Society', Amsterdam University Medical Center, University of Amsterdam, The Netherlands.; Bonkowsky JL; Department of Pediatrics, Division of Pediatric Neurology, University of Utah School of Medicine, Salt Lake City.; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT.; Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, PA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Krägeloh-Mann I; Department of Developmental and Child Neurology, Social Pediatrics, University Children's Hospital Tübingen, Germany.; Bernard G; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada.; Department Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; Child Health and Human Development Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.; Bertini E; Research Unit of Neuromuscular and Neurodegenerative Diseases, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy.; Fatemi A; Kennedy Krieger Institute, Johns Hopkins University, Baltimore, MD.; Sgobbi PV; PSEG Centro de Pesquisa Clínica, São Paulo, Brazil.; Department of Neurology and Neurosurgery, Division of Neuromuscular Diseases, Universidade Federal de São Paulo, Brazil.; Wolf NI; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, The Netherlands.; Groeschel S; Department of Developmental and Child Neurology, Social Pediatrics, University Children's Hospital Tübingen, Germany.; Tonduti D; COALA (Center for Diagnosis and Treatment of Leukodystrophies), Unit of Pediatric Neurology, V. Buzzi Children's Hospital, Milan, Italy.; Department of Biomedical and Clinical Sciences, University of Milan, Milan, Italy.; Sevin C; Reference Center for Leukodystrophies, Pediatric Neurology Department, Hôpital Bicêtre, Le Kremlin Bicêtre, France.; Orthmann-Murphy JL; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Schöls L; Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Germany.; German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Salsano E; Unit of Rare Neurological Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Brais B; Department of Neurology and Neurosurgery, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada.; Jaffe N; Division of General Pediatrics, Children's Hospital of Philadelphia, PA.; Department of General Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia.; Ter Horst KW; Department of Endocrinology and Metabolism, Amsterdam University Medical Center, The Netherlands.; Hannema SE; Department of Pediatric Endocrinology, Amsterdam UMC location Vrije Universiteit, The Netherlands.; Amsterdam Gastroenterology Endocrinology Metabolism, The Netherlands.; Amsterdam Reproduction and Development, The Netherlands.; Hayes KG; Primary Children's Hospital, Intermountain Healthcare, Salt Lake City, UT.; Department of Obstetrics & Gynecology, Division of Pediatric Gynecology, University of Utah, Salt Lake City.; Meyburg J; Department of Pediatrics and Adolescent Medicine, RKH Klinikum Ludwigsburg, Germany.; van Heerde M; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Department of Pediatric Intensive Care, Amsterdam University Medical Center, The Netherlands.; Sbrocchi AM; Division of Pediatric Endocrinology, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.; van Spaendonk R; Department of Human Genetics, Amsterdam University Medical Center, The Netherlands.; Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO.; Department of Pediatrics, School of Medicine, University of Missouri, Kansas City.; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO.; Hofsteenge GH; Department of Nutrition and Dietetics, Internal Medicine, Amsterdam University Medical Center, The Netherlands.; Sudmeier-Broek C; Department of Nutrition and Dietetics, Internal Medicine, Amsterdam University Medical Center, The Netherlands.; Timmer C; Department of Endocrinology and Metabolism, Amsterdam University Medical Center, The Netherlands.; Department of Nutrition and Dietetics, Internal Medicine, Amsterdam University Medical Center, The Netherlands.; Skwirut D; United Leukodystrophy Foundation, DeKalb, IL.; VWM Families Foundation, Greenwhich, CT.; Buck A; VWM Families Foundation, Greenwhich, CT.; Hollberg B; VWM Families Foundation, Greenwhich, CT.; Chapleau R; United Leukodystrophy Foundation, DeKalb, IL.; Dekker H; Vereniging Volwassenen, Kinderen en Stofwisselingsziekten, Zwolle, The Netherlands.; Campbell SG; Biomolecular Sciences Research Centre, School of Biosciences and Chemistry, Faculty of Health, Wellbeing and Life Sciences, Sheffield Hallam University, Sheffield, United Kingdom.; Abbink TEM; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, The Netherlands.; Leferink PS; IXA Neuroscience, Amsterdam Neuroscience, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; van der Knaap MS; Department of Child Neurology, Emma's Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit, The Netherlands.; Amsterdam Leukodystrophy Center, Amsterdam Neuroscience, Cellular & Molecular Mechanisms, The Netherlands.; Department of Integrative Neurophysiology, Center for Neurogenomics and Cognitive Research, Vrije Universiteit, Amsterdam, The Netherlands.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

den Hoed, J.; de Boer, E.; Voisin, N.; Dingemans, A.J.M.; Guex, N.; van de Wiel, L.J.M.; Nellaker, C.; Amudhavalli, S.M.; Banka, S.; Bena, F.S.; Ben-Zeev, B.; Bonagura, V.R.; Bruel, A.L.; Brunet, T.; Brunner, H.G.; Chew, H.B.; Chrast, J.; Cimbalistienė, L.; Coon, H.; Délot, E.C.; Démurger, F.; Denommé-Pichon, A.S.; Depienne, C.; Donnai, D.; Dyment, D.A.; Elpeleg, O.; Faivre, L.; Gilissen, C.F.; Granger, L.; Haber, B.; Hachiya, Y.; Abedi, Y.H.; Hanebeck, J.; Hehir-Kwa, J.Y.; Horist, B.; Itai, T.; Jackson, A.; Jewell, R.; Jones, K.L.; Joss, S.; Kashii, H.; Kato, M.; Kattentidt-Mouravieva, A.A.; Kok, F.; Kotzaeridou, U.; Krishnamurthy, V.; Kučinskas, V.; Kuechler, A.; Lavillaureix, A.; Liu, P; Manwaring, L.; Matsumoto, N.; Mazel, B.; McWalter, K.; Meiner, V.; Mikati, M.A.; Miyatake, S.; Mizuguchi, T.; Moey, L.H.; Mohammed, S; Mor-Shaked, H.; Mountford, H.; Newbury-Ecob, R.; Odent, S.; Orec, L.; Osmond, M.; Palculict, T.B.; Parker, M.; Petersen, A.K.; Pfundt, R.P.; Preikšaitienė, E.; Radtke, K.; Ranza, E.; Rosenfeld, J.A.; Santiago-Sim, T.; Schwager, C.; Sinnema, M.; Snijders Blok, L.; Spillmann, R.C.; Stegmann, A.P.A.; Thiffault, I.; Tran, L.; Vaknin-Dembinsky, A.; Vedovato-Dos-Santos, J.H.; Schrier Vergano, S.A.; Vilain, E.; Vitobello, A.; Wagner, M.; Waheeb, A.; Willing, M.; Zuccarelli, B.; Kini, U.; Newbury, D.F.; Kleefstra, T.; Reymond, A.; Fisher, S.E.; Vissers, L.E.L.M.

American Journal of Human Genetics, 108, 2, pp. 346-356
The American Journal of Human Genetics
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A J M, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S M, Banka, S, Bena, F S, Ben-Zeev, B, Bonagura, V R, Wellcome Trust Sanger Institute, Bruel, A L, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, Délot, E C, Démurger, F, Denommé-Pichon, A S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Snijders Blok, L, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M, Zuccarelli, B, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2021, ' Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction ', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356 . https://doi.org/10.1016/j.ajhg.2021.01.007
Am. J. Hum. Genet. 108, 346-356 (2021)
DDD Study 2021, 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356. https://doi.org/10.1016/j.ajhg.2021.01.007
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, study, T DDD, Délot, E C, Démurger, F, Denommé-Pichon, A-S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Blok, L S, Spillmann, R C, Stegmann, A P A, Thiffault, I, Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M C, Zuccarelli, B D, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2020 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction' bioRxiv, pp. 1-24. https://doi.org/10.1101/2020.10.23.352278
American Journal of Human Genetics, vol 108, iss 2

Madelyn A. Gillentine; Tianyun Wang; Kendra Hoekzema; Jill Rosenfeld; Pengfei Liu; Hui Guo; Chang N. Kim; Bert B. A. De Vries; Lisenka E. L. M. Vissers; Magnus Nordenskjold; Malin Kvarnung; Anna Lindstrand; Ann Nordgren; Jozef Gecz; Maria Iascone; Anna Cereda; Agnese Scatigno; Silvia Maitz; Ginevra Zanni; Enrico Bertini; Christiane Zweier; Sarah Schuhmann; Antje Wiesener; Micah Pepper; Heena Panjwani; Erin Torti; Farida Abid; Irina Anselm; Siddharth Srivastava; Paldeep Atwal; Carlos A. Bacino; Gifty Bhat; Katherine Cobian; Lynne M. Bird; Jennifer Friedman; Meredith S. Wright; Bert Callewaert; Florence Petit; Sophie Mathieu; Alexandra Afenjar; Celenie K. Christensen; Kerry M. White; Orly Elpeleg; Itai Berger; Edward J. Espineli; Christina Fagerberg; Charlotte Brasch-Andersen; Lars Kjærsgaard Hansen; Timothy Feyma; Susan Hughes; Isabelle Thiffault; Bonnie Sullivan; Shuang Yan; Kory Keller; Boris Keren; Cyril Mignot; Frank Kooy; Marije Meuwissen; Alice Basinger; Mary Kukolich; Meredith Philips; Lucia Ortega; Margaret Drummond-Borg; Mathilde Lauridsen; Kristina Sorensen; Anna Lehman; CAUSES Study; Elena Lopez-Rangel; Paul Levy; Davor Lessel; Timothy Lotze; Suneeta Madan-Khetarpal; Jessica Sebastian; Jodie Vento; Divya Vats; L. Manace Benman; Shane Mckee; Ghayda M. Mirzaa; Candace Muss; John Pappas; Hilde Peeters; Corrado Romano; Maurizio Elia; Ornella Galesi; Marleen E. H. Simon; Koen L. I. van Gassen; Kara Simpson; Robert Stratton; Sabeen Syed; Julien Thevenon; Irene Valenzuela Palafoll; Antonio Vitobello; Marie Bournez; Laurence Faivre; Kun Xia; SPARK Consortium; Rachel K. Earl; Tomasz Nowakowski; Raphael A. Bernier; Evan E. Eichler

Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)

Furia F; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Theunis M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.; Bartos MN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.; Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Human Functional Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome, Italy.; Cejudo L; CHU de Poitiers, Service de Génétique, Poitiers, France.; Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Dean SJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA.; Egense A; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia.; Guenzel AJ; GeneDx Inc., Gaithersburg, Maryland, USA.; Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany.; Legius E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain.; Niclass T; CHU de Poitiers, Service de Génétique, Poitiers, France.; Planes M; Service de Génétique Clinique, CHRU de Brest, Brest, France.; Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France.; Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain.; Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany.; Shen JJ; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, New York, USA.; Thiffault I; Department of Pathology, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium.; Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA.; Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark.; Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Spector BL; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, bspector2@wisc.edu.; Yoo B; Center for Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.; Miller N; Bionano Genomics, Inc, San Diego, California.; Gaddis M; Department of Emergency Medicine, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.; Thiffault I; Center for Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri.; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri.; Willig L; Center for Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.; Division of Nephrology, Children's Mercy Hospital, Kansas City, Missouri.

Publisher: University of Wisconsin School of Medicine and Public Health Country of Publication: United States NLM ID: 9716054 Publication Model: Print Cited Medium: Internet ISSN: 2379-3961 (Electronic) Linking ISSN: 10981861 NLM ISO Abbreviation: WMJ Subsets: MEDLINE

Shahsavani M; Karolinska Institutet.; Wincent J; Karolinska Institutet.; Reiter R; Johannes Kepler University of Linz.; Soltysova A; Comenius University Bratislava.; Schuy J; Karolinska Institutet.; Helgadottir HT; Karolinska Institutet.; Eisfeldt J; Karolinska University Hospital.; Ek M; Karolinska Institutet.; Ficek A; Comenius University Bratislava.; Druschke L; Karolinska Institutet.; Kusikova K; Comenius University and National Institute of Childreńs Diseases.; Hsieh TC; University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.; Krichhoff A; University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.; Krawitz P; University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.; Li JM; University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn.; Webersinke G; Ordensklinikum Linz Barmherzige Schwestern.; Gorokhova S; La Timone Children Hospital, AP-HM.; Missirian C; La Timone Children Hospital, AP-HM.; Riccardi F; Aix-Marseille University.; Pavinato L; Bellinzona Institutes of Science (BIOS+).; Brusco A; Rita Levi-Montalcini, University of Torino.; Mandrile G; San Luigi University Hospital, University of Torino.; Trajkova S; Rita Levi-Montalcini, University of Torino.; Pintus F; University of Turin.; Gagachovska B; University Clinic of Psychiatry, Faculty of Medicine, Ss. Cyril and Methodius University.; Waisfisz Q; Amsterdam UMC, Vrije Universiteit Amsterdam.; van Hagen A; Amsterdam UMC, Vrije Universiteit Amsterdam.; Bedoukian E; Children's Hospital of Philadelphia.; Izumi K; Children's Hospital of Philadelphia.; Granger L; University Medical Center Utrecht.; Petersen A; University Medical Center Utrecht.; Oegema R; University Medical Center Utrecht.; Huibers M; University Medical Center Utrecht.; Demurger F; Centre hospitalier Bretagne Atlantique.; Brischoux-Boucher E; Université Marie et Louis Pasteur.; Julia S; CHU Purpan.; Banneau G; CHU Purpan.; Zavala MJ; Universidad del Desarrollo.; Lagos C; Universidad del Desarrollo.; Repetto GM; Universidad del Desarrollo.; Jouret G; Laboratoire National de Santé.; Kentros C; Columbia University.; Ganapathi M; Columbia University Irving Medical Center.; Chung WK; Harvard Medical School.; May H; Columbia University Irving Medical Center.; Hiatt SM; Huntsville, AL.; Kelley WV; Huntsville, AL.; Förster A; Hannover Medical School.; Olfe L; Hannover Medical School.; Shillington A; University of Cincinnati College of Medicine.; Dauriat B; Hôpital Mère-Enfant.; Mercier S; Centre Hospitalier Universitaire de Nantes.; Cogné B; Centre Hospitalier Universitaire de Nantes.; Engel C; Université Bourgogne Franche-Comté.; Dahlen E; Centre Hospitalier Universitaire de Besançon.; Rosenberger G; University Medical Center Hamburg-Eppendorf.; Sauvigny T; University Medical Center Hamburg-Eppendorf.; Abdallah HH; Hôpital Necker-Enfants Malades.; Courtin T; Hôpital Necker-Enfants Malades.; Stray-Pedersen A; Oslo University Hospital.; Bernat JA; University of Iowa Health Care.; Paolillo VK; Children's Mercy Hospital.; Viso FD; Children's Mercy Hospital.; Alaimo JT; Children's Mercy Hospital.; Thiffault I; Children's Mercy Hospital.; Farrow EG; Children's Mercy Hospital.; Cohen ASA; Children's Mercy Hospital.; Weis S; Johannes Kepler University of Linz.; Duba HC; Johannes Kepler University of Linz.; Nordgren A; Karolinska Institutet.; Falk A; Karolinska Institutet.; Weis D; Johannes Kepler University of Linz.; Lindstrand A; Karolinska Institutet.

Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE