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우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
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공정이용 지침
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위반 시 제재
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Hernández, Carlos F; Villaman, Camilo; Tejos, Cristian; Repetto, Gabriela M; Leu, Costin; Lal, Dennis; Mata, Ignacio F; Klein, Andrés D; Pérez-Palma, Eduardo
Brain Communications; 2025, Vol. 7 Issue 5, p1-12, 12p
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Campeau, Philippe M ; Kasperaviciute, Dalia ; Lu, James T ; Burrage, Lindsay C ; Kim, Choel ; Hori, Mutsuki ; Powell, Berkley R ; Stewart, Fiona ; Félix, Têmis Maria ; van den Ende, Jenneke ; Wisniewska, Marzena ; Kayserili, Hülya ; Rump, Patrick ; Nampoothiri, Sheela ; Aftimos, Salim ; Mey, Antje ; Nair, Lal D V ; Begleiter, Michael L ; De Bie, Isabelle ; Meenakshi, Girish ; Murray, Mitzi L ; Repetto, Gabriela M ; Golabi, Mahin ; Blair, Edward ; Male, Alison ; Giuliano, Fabienne ; Kariminejad, Ariana ; Newman, William G ; Bhaskar, Sanjeev S ; Dickerson, Jonathan E ; Kerr, Bronwyn ; Banka, Siddharth ; Giltay, Jacques C ; Wieczorek, Dagmar ; Tostevin, Anna ; Wiszniewska, Joanna ; Cheung, Sau Wai ; Hennekam, Raoul C ; Gibbs, Richard A ; Lee, Brendan H ; Sisodiya, Sanjay M
In Lancet Neurology January 2014 13(1):44-58
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Alpaslan, Murat; Fastré, Elodie; Mestre, Sandrine; Haeringen, Arie van; Repetto, Gabriela M; Keymolen, Kathelijn; Boon, Laurence M; Belva, Florence; Giacalone, Guido; Revencu, Nicole; Sznajer, Yves; Riches, Katie; Keeley, Vaughan; Mansour, Sahar; Gordon, Kristiana; Martin-Almedina, Silvia; Dobbins, Sara; Ostergaard, Pia; Quere, Isabelle; Brouillard, Pascal
Human Molecular Genetics; 7/15/2024, Vol. 33 Issue 14, p1250-1261, 12p
Academic Journal
Gallione, Carol J ; Repetto, Gabriela M ; Legius, Eric ; Rustgi, Anil K ; Schelley, Susan L ; Tejpar, Sabine ; Mitchell, Grant ; Drouin, Éric ; Westermann, Cornelius JJ ; Marchuk, Douglas A
In The Lancet 13 March 2004 363(9412):852-859
Academic Journal
Maroni MJ; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Barton M; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lynch K; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Deshwar AR; Program in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Campbell PD; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Millard J; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee R; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Cohen A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Ahmad R; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Paranjapye A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago 7830490, Chile.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes 7610671, Chile.; McKenna C; Northern Ireland Regional Genetics Service, Belfast BT9 7AB, Northern Ireland.; Shillington AL; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Phornphutkul C; Division of Human Genetics, Rhode Island Hospital, Providence, RI 0290, USA.; Hove HB; Member of ERNBond, Rare Diseases Unit, Department of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen 2100, Denmark.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Richmond CM; Genetic Health Queensland, Royal Brisbane & Women's Hospital, Herston, Queensland 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland 4215, Australia.; Lauzon J; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary AB T2N 1N4, Canada.; Ibrahim AIE; Brody School of Medicine, East Carolina University, Greenville, NC 27834, USA.; Nava C; Institut du Cerveau-Paris Brain Institute-ICM, Sorbonne Université, Inserm, CNRS, Hôpital Pitié Salpêtrière, 75013 Paris, France.; Département de Génétique, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Pitié-Salpêtrière, 75651 Paris, France.; Héron D; Département de Génétique, Assistance Publique-Hôpitaux de Paris (APHP) Sorbonne Université, Hôpital Pitié-Salpêtrière, 75651 Paris, France.; van Aalst MMA; Department of Clinical Genetics, Erasmus MC University Medical Center, GD Rotterdam 3015, The Netherlands.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia 1431, Bulgaria.; Aleksandrova I; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University Sofia, Sofia 1431, Bulgaria.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia 1612, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia 1431, Bulgaria.; Watkins DL; Department of Genetics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Kozenko MA; Department of Genetics, McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Ortez C; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Estevez-Arias B; Neuromuscular Unit, Hospital Sant Joan de Deu, Barcelona 08950, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, Barcelona 08950, Spain.; Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Cassinari K; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Rouen 76000, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, Paris 75019, France.; Laboratoire de biologie médicale multisites SeqOIA-FMG2025, Paris 75014, France.; Innes AM; University of Calgary Department of Medical Genetics, Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Yang XR; University of Calgary Department of Medical Genetics, Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.; Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, Munich 80539, Germany.; Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ 85287, USA.; Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ 85721, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Mester JL; GeneDx, Gaithersburg, MD 20877, USA.; Granato M; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Armache KJ; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON M5G 0A4, Canada.; Korb E; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Ruiz M; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610615, Chile.; Böhme D; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610615, Chile.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610615, Chile.; Rebolledo-Jaramillo B; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago 7610615, Chile.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Academic Journal
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
Academic Journal
Merkevicius K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Institute of Biosciences, Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania.; Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Ganetzky R; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Computational Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Feichtinger RG; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Jiang H; Department of Pediatrics, Weifang Maternal and Children Health Hospital, 261000 Weifang, China.; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Ebihara T; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, 113-842, Japan.; Department of Metabolism, Chiba Children's Hospital, Chiba City, 266-0007, Japan.; Ferrera G; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Ardissone A; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Rokicki D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Wesol-Kucharska D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Schröder S; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Department of Medicine, Clinic III, Hematology, Oncology, Palliative Medicine, University of Rostock, 18051 Rostock, Germany.; Pomeranian Medical University, 70-204 Szczecin, Poland.; Bertoli-Avella A; CENTOGENE GmbH, 18055 Rostock, Germany.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Freisinger P; Klinikum am Steinenberg, Children's Hospital Reutlingen, 72764 Reutlingen, Germany.; Janssen MCH; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Wagner M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alhaddad B; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Lifera Omics, 11452 Riyadh, Saudi Arabia.; AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Baghdasaryan A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Barca D; Pediatric Neurology Department, Carol Davila University of Medicine and Pharmacy, Alexandru Obregia Clinical Hospital, 050474 Bucharest, Romania.; Barić I; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Bellusci M; Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, 28041 Madrid, Spain.; Bevot A; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, 72016 Tübingen, Germany.; Boltshauser E; Department of Neuropediatrics, University Children's Hospital Zurich, 8008 Zurich, Switzerland.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Bouchereau J; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Bruno C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Burnyte B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Calhoun A; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, 52242 Iowa, USA.; Casas K; Sanford Health, Medical Genetics, Fargo, 58103 North Dakota, USA.; Coker M; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; De Lonlay P; Reference Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Institut Imagine, INEM, AP-HP, University Paris Descartes, 75015 Paris, France.; Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Falk MJ; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Ferreira AC; Reference Center of Inherited Metabolic Disease, Unidade Local de Saúde de São José, Lisbon Clinical Academic Center, 1169-045 Lisboa, Portugal.; Ferreira CR; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Ficicioglu C; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.; Fatma Gokçay G; Division of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, 34390 Istanbul, Turkey.; Häberle J; Division of Metabolism & Children's Research Center, University Children's Hospital, 8032 Zürich, Switzerland.; Heath O; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Hellenschmidt A; Department for Pediatrics, Klinikum Karlsruhe, 76133 Karlsruhe, Germany.; Hoefele J; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, 81675 Munich, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, 80336 Munich, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic.; Huemer M; Department of Paediatrics, LKH Bregenz, 6900 Bregenz, Austria.; Division of Metabolism, University Children's Hospital, 8008 Zürich, Switzerland.; Janeiro P; Reference Center for Metabolic Diseases, Pediatric Department, Hospital de Santa Maria, ULSSM, 1169-045 Lisboa, Portugal.; Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal.; Karaa A; Department of Paediatrics, Division of Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Seher Kasapkara Ç; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, 06800 Ankara, Türkiye.; Kern I; Department of Pediatrics, Geneva University Hospital, 1205 Geneva, Switzerland.; Klepper J; Department of Neuropediatrics, Children's Hospital Aschaffenburg-Alzenau, 63739 Aschaffenburg, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; Koch J; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Krumina Z; Department of Biology and Microbiology, Riga Stradiņš University, Riga, LV-1007, Latvia.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Lebigot E; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, 94270 Le Kremlin Bicêtre, France.; Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Maier EM; Section of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, University of Munich, 80337 Munich, Germany.; Martinelli D; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Mendelsohn B; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1085 Budapest, Hungary.; Mundy H; Department of Inherited Metabolic Disease, Evelina London Children's Hospital, London SE1 7EH, UK.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, 1200 Brussels, Belgium.; Oliveira A; Medicine Department, Santa Maria University Hospital, 1649-028 Lisbon, Portugal.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Panicucci C; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Parikh S; Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio 44195, USA.; Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Pichard S; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Ramadža DP; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Repetto GM; Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, 7550000 Santiago, Chile.; Rivera I; iMed.ULisboa - Instituto de Investigação do Medicamento, Faculdade de Farmácia, Universidade de Lisboa, 1649-003 Lisbon, Portugal.; Rodenburg RJ; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Rossi A; Department of Translational Medicine, Section of Paediatrics, University of Naples 'Federico II', 80131 Naples, Italy.; Schiff M; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Seidemann K; Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Carl-Neuberg-Street 1, 30625, Hannover, Germany.; Smith WE; MaineHealth Maine Medical Center Portland, Barbara Bush Children's Hospital, Division of Genetics, Portland, ME 04102, USA.; Soares S; Neuropediatrics Unit, of the Pediatrics Department, of the Pedro Hispano Hospital, ULSM, 4464 Matosinhos, Portugal.; Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Steinbrucker K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, 01-211 Warsaw, Poland.; Tal G; Metabolic Clinic and Pediatric Department B, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Tsiakas K; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kalkan Ucar S; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; van Konijnenburg EH; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.; Woidy M; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Yaplito-Lee J; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Yildiz Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey.; Zenker M; Institute of Human Genetics, University Hospital, 39120 Magdeburg, Germany.; Zsidegh P; Pediatric Centre, Bókay Street Department, Semmelweis University, 1083 Budapest, Hungary.; Westphal D; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Sperl W; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Brown GK; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, OX3 7LE, UK.; Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Munich, 80337 Munich, Germany.; Mayr JA; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Wortmann SB; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE
Academic Journal
Mauro, Jorge; Diaz, Mario; Córdova, Teresa; Villanueva, Katiuska; Cáceres, Tania; Bassi, Alejandro; Fritsch, Rosemarie; Repetto, Gabriela M; Ocampo-Garcés, Adrián
Academic Journal
Ossandon H; Departamento de Coordinación de Garantías y Prestaciones de Salud, División de Planificación Sanitaria, Ministerio de Salud de Chile, Enrique McIver 421, Santiago, Chile.; Armijo N; Centro de Investigación Clínica, Unidad de Evaluación de Tecnologías en Salud (ETESA UC), Pontificia Universidad Católica de Chile, Santiago, Chile.; Centro Para la Prevención y Control del cáncer, Santiago, Chile.; Vargas C; Centre for Health Economics Research and Evaluation (CHERE), University of Technology Sydney, Sydney, Australia.; Repetto GM; Rare Diseases Program, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Espinoza MA; Centro de Investigación Clínica, Unidad de Evaluación de Tecnologías en Salud (ETESA UC), Pontificia Universidad Católica de Chile, Santiago, Chile. manuel.espinoza@uc.cl.; Centro Para la Prevención y Control del cáncer, Santiago, Chile. manuel.espinoza@uc.cl.; Departamento de Salud Pública, Pontificia Universidad Católica de Chile, Santiago, Chile. manuel.espinoza@uc.cl.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Brito F; Rare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Lagos C; Rare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Cubillos J; Fundación por Ellas y Ellos Síndrome de Rett, Santiago, Chile.; Orellana J; Rare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Gajardo M; Escuela de Ingeniería, Facultad de Ciencias Físicas y Matemáticas, Universidad de Chile, Santiago, Chile.; Böhme D; Rare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Biosoluciones-UDD, Santiago, Chile.; Encina G; Biosoluciones-UDD, Santiago, Chile.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE
Academic Journal
Ge R; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, British Columbia, Canada.; Ching CRK; Imaging Genetics Center, University of Southern California, Los Angeles, California, USA.; Bassett AS; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; The Dalglish Family 22q Clinic, Department of Psychiatry and Division of Cardiology, Department of Medicine, and Toronto General Hospital Research Institute, University Health Network, Toronto, Ontario, Canada.; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Kushan L; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.; Antshel KM; Department of Psychology, Syracuse University, Syracuse, New York, USA.; van Amelsvoort T; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, Netherlands.; Bakker G; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, Netherlands.; Butcher NJ; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.; Campbell LE; School of Psychology, University of Newcastle, Callaghan, Australia.; Chow EWC; Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Craig M; Sackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.; National Autism Unit, Bethlem Royal Hospital, Beckenham, UK.; Crossley NA; Department of Psychiatry, Pontificia Universidad Catolica de Chile, Santiago, Chile.; Cunningham A; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.; Daly E; Sackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.; Doherty JL; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.; Cardiff University Brain Research Imaging Centre, School of Psychology, Cardiff University, Cardiff, UK.; Durdle CA; Department of Pediatrics, UC Davis MIND Institute, Davis, California, USA.; Department of Psychological and Brain Sciences, UC Santa Barbara, Santa Barbara, California, USA.; Emanuel BS; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Fiksinski A; Department of Psychology and Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands.; Department of Psychiatry and Neuropsychology, Division of Mental Health, MHeNS, Maastricht University, Maastricht, Netherlands.; Forsyth JK; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.; Department of Psychology, University of Washington, Seattle, Washington, USA.; Fremont W; Department of Psychiatry and Behavioral Sciences State University of New York, Upstate Medical University Syracuse, New York, USA.; Goodrich-Hunsaker NJ; Department of Pediatrics, UC Davis MIND Institute, Davis, California, USA.; Department of Neurology, University of Utah, Salt Lake City, Utah, USA.; Gudbrandsen M; Sackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.; Centre for Research in Psychological Wellbeing (CREW), School of Psychology, University of Roehampton, London, UK.; Gur RE; Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Jalbrzikowski M; Department of Psychiatry, Harvard Medical School, Boston, Massachusetts, USA.; Department of Psychiatry and Behavioral Sciences, Boston Children's Hospital, Boston, Massachusetts, USA.; Kates WR; Department of Psychiatry and Behavioral Sciences State University of New York, Upstate Medical University Syracuse, New York, USA.; Lin A; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.; Graduate Interdepartmental Program in Neuroscience, UCLA School of Medicine, Los Angeles, California, USA.; Linden DEJ; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.; McCabe KL; School of Psychology, University of Newcastle, Callaghan, Australia.; Department of Pediatrics, UC Davis MIND Institute, Davis, California, USA.; McDonald-McGinn D; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; 22q and You Center, Clinical Genetics Center, and Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Human Biology and Medical Genetics, Sapienza University, Rome, Italy.; Moss H; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.; Murphy DG; Sackler Institute for Translational Neurodevelopment and Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology and Neuroscience, London, UK.; Behavioural Genetics Clinic, Adult Autism Service, Behavioural and Developmental Psychiatry Clinical Academic Group, South London and Maudsley Foundation NHS Trust, London, UK.; Murphy KC; Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin, Ireland.; Owen MJ; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.; Villalon-Reina JE; Imaging Genetics Center, University of Southern California, Los Angeles, California, USA.; Repetto GM; Centro de Genetica y Genomica, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Roalf DR; Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Ruparel K; Department of Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Schmitt JE; Department of Radiology and Psychiatry, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Schuite-Koops S; Department of Psychiatry, University Medical Center Groningen, Rijksuniversiteit Groningen, Groningen, Netherlands.; Angkustsiri K; Department of Pediatrics, UC Davis MIND Institute, Davis, California, USA.; Sun D; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.; Vajdi A; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.; Kaiser Permanente Bernard J. Tyson School of Medicine Pasadena, California, USA.; van den Bree M; MRC Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, UK.; Vorstman J; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; Program in Genetics and Genome Biology, Research Institute, and Department of Psychiatry, The Hospital for Sick Children, Toronto, Ontario, Canada.; Thompson PM; Departments of Neurology, Psychiatry, Radiology, Engineering, Pediatrics and Ophthalmology, University of Southern California, Los Angeles, California, USA.; Vila-Rodriguez F; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.; Djavad Mowafaghian Centre for Brain Health, University of British Columbia, Vancouver, British Columbia, Canada.; School of Biomedical Engineering University of British Columbia Vancouver, British Columbia, Canada.; Bearden CE; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, California, USA.
Publisher: Wiley Country of Publication: United States NLM ID: 9419065 Publication Model: Print Cited Medium: Internet ISSN: 1097-0193 (Electronic) Linking ISSN: 10659471 NLM ISO Abbreviation: Hum Brain Mapp Subsets: MEDLINE
Academic Journal
von Scheibler ENMM; Koraal, Maastricht, The Netherlands.; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands.; Swillen A; Centre for Human Genetics, University Hospital of Leuven, Leuven, Belgium.; Department of Human Genetics, KU Leuven, Leuven, Belgium.; Repetto GM; Centre for Genetics and Genomics, Facultad de Medicina Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Reyes NGD; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.; Lang AE; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.; Marras C; Edmond J. Safra Program in Parkinson's Disease and the Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.; Kuijf ML; Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands.; Rouhl RPW; Department of Neurology, Maastricht University Medical Centre, Maastricht, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Centre, Heeze, Maastricht, The Netherlands.; van Eeghen AM; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.; Emma Children's Hospital, University of Amsterdam, Amsterdam, The Netherlands.; Juri C; Department of Neurology, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.; Vogels A; Centre for Human Genetics, University Hospital of Leuven, Leuven, Belgium.; van Amelsvoort TAMJ; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands.; Bassett AS; Toronto General Hospital Research Institute, Department of Mental Health, and Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada.; The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada.; Boot E; Department of Psychiatry and Neuropsychology, Maastricht University, Maastricht, The Netherlands.; Advisium, 's Heeren Loo Zorggroep, Amersfoort, The Netherlands.; The Dalglish Family 22q Clinic, University Health Network, Toronto, Ontario, Canada.
Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder.
Academic Journal
Maroni MJ; Neuroscience Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Barton M; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lynch K; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Deshwar AR; Program in Developmental and Stem Cell Biology, Sickkids Research Institute, Toronto, ON M5G 0A4, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada.; Campbell PD; Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Millard J; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Lee R; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Cohen A; Cell and Molecular Biology Graduate Group, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Ahmad R; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Paranjapye A; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile 7830490.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute for Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Las Condes, Chile 7610671.; McKenna C; Northern Ireland Regional Genetics Service, Belfast, Belfast BT9 7AB, Northern Ireland.; Shillington AL; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Phornphutkul C; Rhode Island Hospital, Providence, RI 0290, USA.; Hove HB; Rare Diseases Unit, Dept. of Pediatrics and Adolescent Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark. Member of ERNBond.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Richmond CM; Royal Brisbane & Women's Hospital, Herston, Queensland, 4006, Australia.; School of Medicine, Griffith University, Gold Coast, Queensland, 4215, Australia.; Lauzon J; Alberta Children's Hospital, Calgary AB Canada Department of Medical Genetics, Cummings School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.; Ibrahim AIE; Brody school of medicine, Greenville, NC 27834, USA.; Nava C; Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, Hôpital Pitié Salpêtrière, Paris, France.; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; Héron D; Assistance Publique- Hôpitaux de Paris (APHP) Sorbonne Université, Département de Génétique, Hôpital Pitié-Salpêtrière, Paris, France.; van Aalst MMA; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, The Netherlands.; Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Sleptsova M; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.; Aleksandrova I; Clinic of Child Neurology, MHATNP 'St. Naum', Medical University-Sofia, Sofia, Bulgaria.; Todorova A; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria.; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.; Watkins DL; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Kozenko MA; Department of Genetics, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Natera-de Benito D; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Estevez-Arias B; Neuromuscular Unit, Hospital Sant Joan de Deu, 08950, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Institut de Recerca Sant Joan de Deu, 08950, Barcelona, Spain.; Lecoquierre F; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Cassinari K; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Guerrot AM; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, 76000, Rouen, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Latypova X; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Verloes A; Department of Genetics, APHP-Robert Debré University Hospital, 75019, Paris, France.; Laboratoire de biologie médicale multisites Seqoia - FMG2025, Paris, France.; Innes AM; University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Yang XR; University of Calgary Department of Medical Genetics; Alberta Children's Hospital Research Institute, Calgary, AB T3B 6A8, Canada.; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9WL Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, M13 9WL Manchester, UK.; Vill K; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, 80539, Munich, Germany.; Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 81675, Munich, Germany.; Kruer M; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Skidmore P; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; College of Health Solutions, Arizona State University, Tempe, AZ, 85287, USA.; Galaz-Montoya CI; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Genetics, GIDP PhD Program, Tucson, AZ, 85721, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, Cellular and Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Mester JL; GeneDx, Gaithersburg, MD, 20877, USA.; Granato M; Department of Cell and Developmental Biology, University of Pennsylvania, Philadelphia, PA 19104, USA.; Armache KJ; Department of Biochemistry and Molecular Pharmacology, New York University Grossman School of Medicine, New York, NY 10016, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1E8, Canada.; Department of Paediatrics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, M5G 0A4 Canada.; Korb E; Department of Genetics, University of Pennsylvania, Philadelphia, PA 19104, USA.; Epigenetics Institute, University of Pennsylvania, Philadelphia, PA 19104, USA.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Zhao Y; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.; Wang Y; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.; Shi L; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.; McDonald-McGinn DM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104, USA.; Crowley TB; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104, USA.; McGinn DE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104, USA.; Tran OT; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104, USA.; Miller D; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.; Lin JR; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.; Zackai E; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104, USA.; Johnston HR; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.; Chow EWC; Department of Psychiatry, University of Toronto, Ontario, M5G 0A4, Canada.; Vorstman JAS; Program in Genetics and Genome Biology, Research Institute and Autism Research Unit, The Hospital for Sick Children, Toronto, ON, M5G 0A4, Canada.; Vingerhoets C; Department of Psychiatry and Psychology, Maastricht University, Maastricht, 6200, MD, the Netherlands.; van Amelsvoort T; Department of Psychiatry and Psychology, Maastricht University, Maastricht, 6200, MD, the Netherlands.; Gothelf D; The Division of Child & Adolescent Psychiatry, Edmond and Lily Sapfra Children's Hospital, Sheba Medical Center and Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Ramat Gan, 5262000, Israel.; Swillen A; Center for Human Genetics, University Hospital Leuven, Department of Human Genetics, University of Leuven (KU Leuven), Leuven, 3000, Belgium.; Breckpot J; Center for Human Genetics, University Hospital Leuven, Department of Human Genetics, University of Leuven (KU Leuven), Leuven, 3000, Belgium.; Vermeesch JR; Center for Human Genetics, University Hospital Leuven, Department of Human Genetics, University of Leuven (KU Leuven), Leuven, 3000, Belgium.; Eliez S; Developmental Imaging and Psychopathology Laboratory, Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, 1211, Switzerland.; Schneider M; Developmental Imaging and Psychopathology Laboratory, Department of Psychiatry, Faculty of Medicine, University of Geneva, Geneva, 1211, Switzerland.; van den Bree MBM; Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Wales, CF24 4HQ, UK.; Owen MJ; Medical Research Council Centre for Neuropsychiatric Genetics and Genomics, Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Wales, CF24 4HQ, UK.; Kates WR; Department of Psychiatry and Behavioral Sciences, SUNY Upstate Medical University, Syracuse, NY, 13202, USA.; Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY, 13202, USA.; Repetto GM; Center for Genetics and Genomics, Facultad de Medicina Clinica Alemana-Universidad del Desarrollo, Santiago, 7710162, Chile.; Shashi V; Department of Pediatrics, Duke University, Durham, NC, 27710, USA.; Schoch K; Department of Pediatrics, Duke University, Durham, NC, 27710, USA.; Bearden CE; Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles, Los Angeles, CA, 90095, USA.; Digilio MC; Department of Medical Genetics, Bambino Gesù Hospital, Rome, 00165, Italy.; Unolt M; Department of Medical Genetics, Bambino Gesù Hospital, Rome, 00165, Italy.; Department of Pediatrics, Gynecology, and Obstetrics, La Sapienza University of Rome, Rome, 00185, Italy.; Putotto C; Department of Pediatrics, Gynecology, and Obstetrics, La Sapienza University of Rome, Rome, 00185, Italy.; Marino B; Department of Pediatrics, Gynecology, and Obstetrics, La Sapienza University of Rome, Rome, 00185, Italy.; Pontillo M; Department of Neuroscience, Bambino Gesù Hospital, Rome, 00165, Italy.; Armando M; Department of Neuroscience, Bambino Gesù Hospital, Rome, 00165, Italy.; Developmental Imaging and Psychopathology Lab, University of Geneva, Geneva, 1211, Switzerland.; Vicari S; Department of Life Sciences and Public Health, Catholic University and Child & Adolescent Psychiatry Unit at Bambino Gesù Hospital, Rome, 00165, Italy.; Angkustsiri K; Developmental Behavioral Pediatrics, MIND Institute, University of California, Davis, CA, 95817, USA.; Campbell L; School of Psychology, University of Newcastle, Newcastle, 2258, Australia.; Busa T; Department of Medical Genetics, Aix-Marseille University, Marseille, 13284, France.; Heine-Suñer D; Genomics of Health and Unit of Molecular Diagnosis and Clinical Genetics, Son Espases University Hospital, Balearic Islands Health Research Institute, Palma de Mallorca, 07120, Spain.; Murphy KC; Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin, 505095, Ireland.; Murphy D; Department of Forensic and Neurodevelopmental Sciences, King's College London, Institute of Psychiatry, Psychology, and Neuroscience, London, SE5 8AF, UK.; Behavioral and Developmental Psychiatry Clinical Academic Group, Behavioral Genetics Clinic, National Adult Autism and ADHD Service, South London and Maudsley Foundation National Health Service Trust, London, SE5 8AZ, UK.; García-Miñaúr S; Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, 28046, Spain.; Fernández L; Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, 28046, Spain.; Zhang ZD; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.; Goldmuntz E; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Gur RE; Department of Psychiatry, Perelman School of Medicine of the University of Pennsylvania Philadelphia, Philadelphia, PA, 19104, USA.; Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Emanuel BS; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, 19104, USA.; Zheng D; Department of Genetics, Department of Neurology, Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.; Marshall CR; Division of Genome Diagnostics, The Hospital for Sick Children and Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, M5T 1R8, Canada.; Bassett AS; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, ON, Canada.; Dalglish Family 22q Clinic, Toronto General Hospital, and Toronto General Hospital Research Institute, University Health Network, Toronto, ON, Canada.; Department of Psychiatry, University of Toronto, Toronto, Ontario, M5T 1R8, Canada.; Wang T; Department of Epidemiology & Population Health, Albert Einstein College of Medicine, Bronx, NY, 10461, USA.; Morrow BE; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, 10461, USA. bernice.morrow@einsteinmed.edu.
Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: Electronic Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE
Academic Journal
Forsyth, Jennifer K; Mennigen, Eva; Lin, Amy; Sun, Daqiang; Vajdi, Ariana; Kushan-Wells, Leila; Ching, Christopher RK; Villalon-Reina, Julio E; Thompson, Paul M; Jonas, Rachel K; Pacheco-Hansen, Laura; Bakker, Geor; van Amelsvoort, Therese; Antshel, Kevin M; Fremont, Wanda; Kates, Wendy R; Campbell, Linda E; McCabe, Kathryn L; Craig, Michael C; Daly, Eileen; Gudbrandsen, Maria; Murphy, Clodagh M; Murphy, Declan G; Murphy, Kieran C; Fiksinski, Ania; Koops, Sanne; Vorstman, Jacob; Crowley, T Blaine; Emanuel, Beverly S; Gur, Raquel E; McDonald-McGinn, Donna M; Roalf, David R; Ruparel, Kosha; Schmitt, J Eric; Zackai, Elaine H; Durdle, Courtney A; Goodrich-Hunsaker, Naomi J; Simon, Tony J; Bassett, Anne S; Butcher, Nancy J; Chow, Eva WC; Vila-Rodriguez, Fidel; Cunningham, Adam; Doherty, Joanne L; Linden, David E; Moss, Hayley; Owen, Michael J; van den Bree, Marianne; Crossley, Nicolas A; Repetto, Gabriela M; Bearden, Carrie E
Cereb Cortex
Cerebral Cortex, vol 31, iss 7
Cerebral Cortex, vol 31, iss 7
Academic Journal
White LK; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Crowley TB; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Finucane B; Geisinger Medical Center, Danville, PA 17821, USA.; McClellan EJ; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Donoghue S; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Garcia-Minaur S; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, 28046 Madrid, Spain.; Repetto GM; Clinic Aldemana, University for Development, Santiago 7690000, Chile.; Fischer M; Clinic and Policlinic for Psychiatry and Psychotherapy, University of Rostock, 18147 Rostock, Germany.; Sigma-Zentrum, 79713 Bad Säckingen, Germany.; Jacquemont S; Sainte Justine Research Center, University of Montreal, Montreal, QC H3T 1J4, Canada.; Gur RE; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Maillard AM; Lausanne University Hospital, 1011 Lausanne, Switzerland.; Donald KA; Department of Paediatrics and Child Health, Red Cross War Memorial Children's Hospital, Rondebosch, Cape Town 7700, South Africa.; Neuroscience Institute, University of Cape Town, Cape Town 7935, South Africa.; Bassett AS; The Dalglish Family 22q Clinic, University Health Network, Toronto, ON M5G 2C4, Canada.; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, and Department of Psychiatry, University of Toronto, Toronto, ON M5S 2S1, Canada.; Division of Cardiology, Department of Medicine, and Centre for Mental Health, and Toronto General Hospital Research Institute, University Health Network, Toronto, ON M5G 2N2, Canada.; Swillen A; Center for Human Genetics, University Hospital UZ Leuven, and Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium.; McDonald-McGinn DM; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Human Biology and Medical Genetics, Sapienza University, 00185 Roma, Italy.
Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Academic Journal
Poli MC; Program for Immunogenetics and Translational Immunology, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Hospital Dr. Roberto del Río, Santiago, Chile.; Rebolledo-Jaramillo B; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Lagos C; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Orellana J; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Moreno G; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Martín LM; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Unidad de Gestión Clínica del Niño, Hospital Padre Hurtado, Santiago, Chile.; Encina G; Biosoluciones UDD, Santiago, Chile.; Böhme D; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Biosoluciones UDD, Santiago, Chile.; Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.; Zavala MJ; Hospital Base de Valdivia, Valdivia, Chile.; Hasbún T; Department of Dermatology, Facultad de Medicina Universidad del Desarrollo, Clínica Alemana de Santiago, Vitacura, Chile.; Department of Dermatology, Hospital Exequiel González Cortés, Vitacura, Chile.; Fischer S; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Brito F; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Araya D; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; Lira M; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.; de la Cruz J; Program for Immunogenetics and Translational Immunology, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Astudillo C; Hospital Dr. Roberto del Río, Santiago, Chile.; Lay-Son G; Division of Pediatrics, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.; Cares C; Genetics Unit, Hospital Dr Luis Calvo Mackenna, Santiago, Chile.; Aracena M; Genetics Unit, Hospital Dr Luis Calvo Mackenna, Santiago, Chile.; Martin ES; Hospital Dr Guillermo Grant Benavente, Concepcion, Chile.; Coban-Akdemir Z; University of Texas Health Science Center at Houston, School of Public Health, Department of Epidemiology, Human Genetics and Environmental Sciences, Santiago, Chile.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Repetto GM; Rare Diseases Program, Center for Genetics and Genomics, Institute of Science and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile. grepetto@udd.cl.; Unidad de Gestión Clínica del Niño, Hospital Padre Hurtado, Santiago, Chile. grepetto@udd.cl.
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
Editorial & Opinion
Ambrosino E; Science Division, World Health Organization, Geneva, Switzerland. ambrosinoe@who.int.; Abou Tayoun AN; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University, Dubai Health, Dubai, United Arab Emirates.; Abramowicz M; Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Zilfalil BA; Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.; Boughtwood T; Australian Genomics, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Hamdi Y; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Hubbard T; ELIXIR, Wellcome Genome Campus, Hinxton, UK.; Department of Medical & Molecular Genetics, King's College London, London, UK.; Kato K; Department of Biomedical Ethics and Public Policy, graduate School of Medicine, Osaka University, Suita, Japan.; Lopes-Cendes I; Department of Translational Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Majumder PP; John C. Martin Center for Liver Research and Innovations, Kolkata, India.; Indian Statistical Institute, Kolkata, India.; Mascalzoni D; Department of Public Health and Caring Science, Uppsala University, Uppsala, Switzerland.; Institute for Biomedicine, Eurac Research, Bolzano, Italy.; Ndiaye R; Division of Human Genetics, Faculty of Medicine, Pharmacy and Odonto-Stomatology, University Cheikh Anta DIOP, Dakar, Senegal.; Ramsay M; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Repetto GM; Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Taylor S; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Reeder JC; Science Division, World Health Organization, Geneva, Switzerland.; Ross AL; Science Division, World Health Organization, Geneva, Switzerland.
Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE; In Process
Academic Journal
Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S; Heung, Tracy; Holleman, Aaron M; Johnston, H Richard; Monfeuga, Thomas; McDonald-McGinn, Donna M; Gur, Raquel E; Morrow, Bernice E; Swillen, Ann; Vorstman, Jacob A S; Bearden, Carrie E; Chow, Eva W C; van den Bree, Marianne; Emanuel, Beverly S; Vermeesch, Joris R; Warren, Stephen T; Owen, Michael J; Chopra, Pankaj; Cutler, David J; Duncan, Richard; Kotlar, Alex V; Mulle, Jennifer G; Voss, Anna J; Zwick, Michael E; Diacou, Alexander; Golden, Aaron; Guo, Tingwei; Lin, Jhih-Rong; Wang, Tao; Zhang, Zhengdong; Zhao, Yingjie; Marshall, Christian; Merico, Daniele; Jin, Andrea; Lilley, Brenna; Salmons, Harold I; Tran, Oanh; Holmans, Peter; Pardinas, Antonio; Walters, James T R; Demaerel, Wolfram; Boot, Erik; Butcher, Nancy J; Costain, Gregory A; Lowther, Chelsea; Evers, Rens; van Amelsvoort, Therese A M J; van Duin, Esther; Vingerhoets, Claudia; Breckpot, Jeroen; Devriendt, Koen; Vergaelen, Elfi; Vogels, Annick; Crowley, T Blaine; McGinn, Daniel E; Moss, Edward M; Sharkus, Robert J; Unolt, Marta; Zackai, Elaine H; Calkins, Monica E; Gallagher, Robert S; Gur, Ruben C; Tang, Sunny X; Fritsch, Rosemarie; Ornstein, Claudia; Repetto, Gabriela M; Breetvelt, Elemi; Duijff, Sasja N; Fiksinski, Ania; Moss, Hayley; Niarchou, Maria; Murphy, Kieran C; Prasad, Sarah E; Daly, Eileen M; Gudbrandsen, Maria; Murphy, Clodagh M; Murphy, Declan G; Buzzanca, Antonio; Fabio, Fabio Di; Digilio, Maria C; Pontillo, Maria; Marino, Bruno; Vicari, Stefano; Coleman, Karlene; Cubells, Joseph F; Ousley, Opal Y; Carmel, Miri; Gothelf, Doron; Mekori-Domachevsky, Ehud; Michaelovsky, Elena; Weinberger, Ronnie; Weizman, Abraham; Kushan, Leila; Jalbrzikowski, Maria; Armando, Marco; Eliez, Stéphan; Sandini, Corrado; Schneider, Maude; Béna, Frédérique Sloan; Antshel, Kevin M; Fremont, Wanda; Kates, Wendy R; Belzeaux, Raoul; Busa, Tiffany; Philip, Nicole; Campbell, Linda E; McCabe, Kathryn L; Hooper, Stephen R; Schoch, Kelly; Shashi, Vandana; Simon, Tony J; Tassone, Flora; Arango, Celso; Fraguas, David; García-Miñaúr, Sixto; Morey-Canyelles, Jaume; Rosell, Jordi; Suñer, Damià H; Raventos-Simic, Jasna; International 22q11.2DS Brain and Behavior Consortium; Epstein, Michael P; Williams, Nigel M; Bassett, Anne S
Mol Psychiatry
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Molecular Psychiatry (2020)
Molecular Psychiatry, vol 26, iss 8
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Molecular Psychiatry (2020)
Molecular Psychiatry, vol 26, iss 8
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[AR] Repetto, Gabriela M
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