부산대학교 도서관

Pena IA; The Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA. ipena@cheo.on.ca.; Department of Brain and Cognitive Sciences, MIT, Cambridge, MA, USA. ipena@cheo.on.ca.; Children's Hospital of Eastern Ontario (CHEO) Research Institute, Ottawa, ON, Canada. ipena@cheo.on.ca.; Shi JS; The Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA.; Department of Biology, MIT, Cambridge, MA, USA.; Chang SM; Department of Biology, MIT, Cambridge, MA, USA.; David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA.; Harvard-MIT MD/PhD Program, Boston, MA, USA.; Yang J; Department of Biology, MIT, Cambridge, MA, USA.; Block S; Department of Biology, MIT, Cambridge, MA, USA.; David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA.; Adelmann CH; Department of Biology, MIT, Cambridge, MA, USA.; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.; Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.; Department of Dermatology, Cutaneous Biology Research Center, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Keys HR; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.; Ge P; The Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA.; Department of Brain and Cognitive Sciences, MIT, Cambridge, MA, USA.; Harvard-MIT MD/PhD Program, Boston, MA, USA.; Bathla S; Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA.; Witham IH; The Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA.; Department of Biological Engineering, MIT, Cambridge, MA, USA.; Sienski G; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.; Nairn AC; Department of Psychiatry, Yale School of Medicine, New Haven, CT, USA.; Sabatini DM; Institute of Organic Chemistry and Biochemistry, IOCB, Prague, Czechia.; Lewis CA; Whitehead Institute for Biomedical Research, Cambridge, MA, USA.; UMass Chan Medical School, Program in Molecular Medicine, Worcester, MA, USA.; Kory N; Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Dana-Farber Cancer Institute, Boston, MA, USA.; Vander Heiden MG; Department of Biology, MIT, Cambridge, MA, USA.; David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA.; Dana-Farber Cancer Institute, Boston, MA, USA.; Heiman M; The Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA. mheiman@mit.edu.; Department of Brain and Cognitive Sciences, MIT, Cambridge, MA, USA. mheiman@mit.edu.

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

Block S; David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA.; Department of Biology, MIT, Cambridge, MA, USA.; Department of Molecular Metabolism, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Chi F; David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA.; Rosen PC; Department of Biology, MIT, Cambridge, MA, USA.; Pineda SS; Department of Electrical Engineering and Computer Science, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.; Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.; Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA.; Darnell AM; David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA.; Department of Biology, MIT, Cambridge, MA, USA.; Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, NC, USA.; Abbott KL; David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA.; Department of Biology, MIT, Cambridge, MA, USA.; Pena IA; Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA.; Department of Brain and Cognitive Sciences, MIT, Cambridge, MA, USA.; Heiman M; Picower Institute for Learning and Memory, MIT, Cambridge, MA, USA.; Department of Brain and Cognitive Sciences, MIT, Cambridge, MA, USA.; Yilmaz ÖH; David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA.; Department of Biology, MIT, Cambridge, MA, USA.; Department of Pathology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Department of Pathology, Beth Israel Deaconess Hospital and Harvard Medical School, Boston, MA, USA.; Kory N; Department of Molecular Metabolism, Harvard T.H. Chan School of Public Health, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA.; Dana-Farber Cancer Institute, Boston, MA, USA.; Vander Heiden MG; David H. Koch Institute for Integrative Cancer Research, MIT, Cambridge, MA, USA.; Department of Biology, MIT, Cambridge, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA.; Dana-Farber Cancer Institute, Boston, MA, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Jia, Jian-Jun; Lahr, Roni M; Solgaard, Michael T; Moraes, Bruno J; Pointet, Roberta; Yang, An-Dao; Celucci, Giovanna; Graber, Tyson E; Hoang, Huy-Dung; Niklaus, Marius R; Pena, Izabella A; Hollensen, Anne K; Smith, Ewan M; Chaker-Margot, Malik; Anton, Leonie; Dajadian, Christopher; Livingstone, Mark; Hearnden, Jaclyn; Wang, Xu-Dong; Yu, Yonghao

Nucleic Acids Research; 4/6/2021, Vol. 49 Issue 6, p3461-3489, 29p

van Karnebeek CDM; Amsterdam UMC location University of Amsterdam, Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam, The Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada; United for Metabolic Diseases, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.; Tarailo-Graovac M; Departments of Medical Genetics and Biochemistry & Molecular Biology, Alberta Children's Hospital Research Institute (ACHRI), Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Leen R; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Meinsma R; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; Correard S; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Jansen-Meijer J; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; Prykhozhij SV; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Pena IA; The Picower Institute for Learning and Memory, Massachusetts Institute of Technology-MIT, Boston, MA.; Ban K; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Schock S; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Saxena V; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Pras-Raves ML; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Drögemöller BI; Rady Faculty of Health Sciences, Department of Biochemistry and Medical Genetics, Children's Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg, Manitoba, Canada.; Grootemaat AE; Amsterdam UMC Location University of Amsterdam, Department of Medical Biology, Amsterdam, The Netherlands.; van der Wel NN; Amsterdam UMC Location University of Amsterdam, Department of Medical Biology, Amsterdam, The Netherlands.; Dobritzsch D; Uppsala University, Department of Chemistry, Biomedical Center, Uppsala, Sweden.; Roseboom W; Swammerdam Institute for Life Sciences, University of Amsterdam, Laboratory for Mass Spectrometry of Biomolecules, Amsterdam, The Netherlands.; Schomakers BV; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Jaspers YRJ; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; Zoetekouw L; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; Roelofsen J; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; van der Lee R; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Ross CJ; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Kochan J; Jagiellonian University, Faculty of Biochemistry, Biophysics and Biotechnology, Department of Cell Biochemistry, Kraków, Poland.; McIntyre RL; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; van Klinken JB; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands; Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; van Weeghel M; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Kramer G; Swammerdam Institute for Life Sciences, University of Amsterdam, Laboratory for Mass Spectrometry of Biomolecules, Amsterdam, The Netherlands.; Weschke B; Department of Neuropediatrics, Charité University Medicine Berlin, Berlin, Germany.; Labrune P; APHP-Université Paris-Saclay, Hôpital Antoine Béclère, Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pédiatrie, Clamart, and Paris-Saclay University, and INSERM U 1195, Clamart, France.; Willemsen MA; Department of Pediatric Neurology and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Riva D; Neurogenetic Syndromes and Autism Spectrum Disorders Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy.; Garavaglia B; Medical Genetics and Neurogenetics Unit, Fondazione IRCCS Istituto Neurologico 'Carlo Besta,' Milan, Italy.; Moeschler JB; Geisel School of Medicine, Dartmouth College and Departments of Pediatrics, Children's Hospital at Dartmouth, Lebanon, NH.; Filiano JJ; Geisel School of Medicine, Dartmouth College and Departments of Pediatrics, Children's Hospital at Dartmouth, Lebanon, NH.; Ekker M; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Berman JN; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Dyment D; Faculty of Medicine, CHEO Research Institute, University of Ottawa, Ottawa, ON, Canada.; Vaz FM; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.; Wasserman WW; Departments of Medical Genetics and Pediatrics, Centre for Molecular Medicine and Therapeutics, Faculty of Pharmaceutical Science, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, BC, Canada.; Houtkooper RH; Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.; van Kuilenburg ABP; Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands; Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands. Electronic address: a.b.vankuilenburg@amsterdamumc.nl.

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

Johnstone DL; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Al-Shekaili HH; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Tarailo-Graovac M; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Institute of Physiology and Biochemistry, Faculty of Biology, The University of Belgrade, Belgrade, Serbia.; Departments of Biochemistry, Molecular Biology, and Medical Genetics, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, Canada.; Wolf NI; Department of Child Neurology, Amsterdam University Medical Centres, Amsterdam Neuroscience, Amsterdam, The Netherlands.; Ivy AS; Division of Child Neurology, Department of Neurology and Neurological Sciences, Stanford University School of Medicine, CA, USA.; Demarest S; Departments of Pediatrics and Neurology, University of Colorado School of Medicine, Children's Hospital Colorado, CO, USA.; Roussel Y; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Ciapaite J; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands.; van Roermund CWT; Department of Pediatrics and Clinical Chemistry, Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Kosuta C; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Ban K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Ito Y; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; McBride S; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Al-Thihli K; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.; Abdelrahim RA; Department of Child Health, Sultan Qaboos University Hospital, Muscat, Oman.; Koul R; Paediatric Neurology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.; Al Futaisi A; Paediatric Neurology Unit, Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.; Haaxma CA; Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute of Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.; Olson H; Department of Neurology, Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital, Boston, MA, USA.; Sigurdardottir LY; Department of Neurology, University of Central Florida, Nemours Children's Hospital, Orlando, FL, USA.; Arnold GL; Department of Pediatrics, University of Pittsburgh Medical Center, Pittsburg, PA, USA.; Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Boon M; Department of Neurology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Heiner-Fokkema MR; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Noble S; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Bosma M; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands.; Jans J; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands.; United for Metabolic Diseases, The Netherlands.; Koolen DA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Kamsteeg EJ; Genome Diagnostics Nijmegen, Nijmegen, The Netherlands.; Drögemöller B; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.; Ross CJ; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Faculty of Pharmaceutical Sciences, University of British Columbia, Vancouver, BC, Canada.; Majewski J; McGill University and Genome Quebec Innovation Centre, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Cho MT; GeneDx Inc., Gaithersburg, MD, USA.; Begtrup A; GeneDx Inc., Gaithersburg, MD, USA.; Wasserman WW; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Bui T; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Brimble E; Department of Neurology and Neurological Sciences, Stanford Medicine, Stanford, CA, USA.; Violante S; Department of Genetics and Genomic Sciences and Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Houten SM; Department of Genetics and Genomic Sciences and Icahn Institute for Genomics and Multiscale Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Wevers RA; United for Metabolic Diseases, The Netherlands.; Translational Metabolic Laboratory, Department Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.; van Faassen M; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Kema IP; Department of Laboratory Medicine, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.; Lepage N; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Lines MA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Division of Metabolics and Newborn Screening, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Wanders RJA; Department of Pediatrics and Clinical Chemistry, Laboratory Division, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; United for Metabolic Diseases, The Netherlands.; Verhoeven-Duif N; Department of Genetics, Center for Molecular Medicine, University Medical Center, Utrecht, The Netherlands.; United for Metabolic Diseases, The Netherlands.; Ekker M; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Friedman JM; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; Pena IA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada.; Department of Biology, University of Ottawa, Ottawa, ON, Canada.; van Karnebeek CDM; British Columbia Children's Hospital Research Institute, Vancouver, BC, Canada.; United for Metabolic Diseases, The Netherlands.; Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, The Netherlands.; Centre for Molecular Medicine and Therapeutics, Department of Pediatrics, University of British Columbia, Vancouver, Canada.

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

Pena IA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada ipena2@uottawa.ca.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada.; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada.; Roussel Y; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada.; Daniel K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Mongeon K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada.; Johnstone D; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada.; Weinschutz Mendes H; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada.; Bosma M; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands.; Saxena V; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada.; Lepage N; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Chakraborty P; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada.; van Karnebeek CDM; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands.; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver V5Z 4H4, British Columbia, Canada.; Verhoeven-Duif N; Department of Genetics, Center for Molecular Medicine, University Medical Center (UMC), 3584 EA Utrecht, The Netherlands.; Bui TV; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada ipena2@uottawa.ca.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada.; Ekker M; Department of Biology, University of Ottawa, Ontario K1N 6N5, Canada.; MacKenzie A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario K1H 8L1, Canada.; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario K1H 8L1, Canada.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

Kory N; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute, Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.; Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Department of Biology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, 415 Main Street, Cambridge MA 02142, USA.; Uit de Bos J; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; van der Rijt S; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Jankovic N; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Güra M; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Arp N; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Pena IA; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Prakash G; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Chan SH; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Kunchok T; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Lewis CA; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA.; Sabatini DM; Whitehead Institute for Biomedical Research, 455 Main Street, Cambridge, MA 02142, USA. sabatini@wi.mit.edu.; Howard Hughes Medical Institute, Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA.; Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Department of Biology, 77 Massachusetts Avenue, Cambridge, MA 02139, USA.; Broad Institute of Harvard and Massachusetts Institute of Technology, 415 Main Street, Cambridge MA 02142, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE; PubMed not MEDLINE

Boycott KM; CHEO Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada. Electronic address: kboycott@cheo.on.ca.; Campeau PM; Centre de Recherche du CHU Ste-Justine, Department of Pediatrics, Université de Montréal, Montréal, QC H3T 1C5, Canada.; Howley HE; CHEO Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Pavlidis P; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T 1Z4, Canada; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Rogic S; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T 1Z4, Canada; Department of Psychiatry, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Oriel C; Maternal Infant Child and Youth Research Network (MICYRN), Vancouver, BC V5Z 4H4, Canada.; Berman JN; CHEO Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Hamilton RM; Labatt Family Heart Centre and Translational Medicine, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; Hicks GG; Regenerative Medicine Program, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3E 3P5, Canada; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB R3E 3P5, Canada.; Lipshitz HD; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A8, Canada.; Masson JY; Oncology Division, CHU de Québec-Université Laval, Laval University Cancer Research Center, Quebec City, QC, G1R 3S3, Canada.; Shoubridge EA; Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada.; Junker A; Department of Pediatrics, British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Leroux MR; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, BC V5A 1S6, Canada.; McMaster CR; Department of Pharmacology, Dalhousie University, Halifax, NS B3H 4R2, Canada.; Michaud JL; Centre de Recherche du CHU Ste-Justine, Department of Pediatrics, Université de Montréal, Montréal, QC H3T 1C5, Canada.; Turvey SE; Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada.; Dyment D; CHEO Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Innes AM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Alberta Children's Hospital, Calgary, AB T2N 4N1, Canada.; van Karnebeek CD; Department of Human Genetics, Montreal Neurological Institute, McGill University, Montreal, QC H3A 2B4, Canada; Department of Pediatrics, Amsterdam University Medical Centres, Amsterdam, the Netherlands; Department of Clinical Genetics, Amsterdam University Medical Centres, Amsterdam, the Netherlands.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Cohn RD; Genetics and Genome Biology Program, SickKids Research Institute, Department of Paediatrics and Molecular Genetics, University of Toronto, Toronto, ON M5G 0A4, Canada.; MacDonald IM; Department of Ophthalmology and Visual Sciences, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2R7, Canada.; Rachubinski RA; Genetics and Genome Biology Program, SickKids Research Institute, Department of Paediatrics and Molecular Genetics, University of Toronto, Toronto, ON M5G 0A4, Canada.; Frosk P; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, MB R3A 1S1, Canada.; Vandersteen A; Department of Pediatrics, Maritime Medical Genetics Service, Dalhousie University, IWK Health Centre, Halifax, NS B3K 6R8, Canada.; Wozniak RW; Department of Cell Biology, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2H7, Canada.; Pena IA; CHEO Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Wen XY; Zebrafish Centre for Advanced Drug Discovery, Keenan Research Centre for Biomedical Science, St Michael's Hospital, Unity Health Toronto, Department of Medicine, University of Toronto, Toronto, ON M5B 1T8.; Lacaze-Masmonteil T; Maternal Infant Child and Youth Research Network (MICYRN), Vancouver, BC V5Z 4H4, Canada; Department of Pediatrics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada.; Rankin C; Department of Psychology, University of British Columbia, Vancouver, BC V6T 1Z4, Canada.; Hieter P; Michael Smith Laboratories, University of British Columbia, Vancouver, BC V6T 1Z4, Canada. Electronic address: hieter@msl.ubc.ca.

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

Gillespie MK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; McMillan HJ; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Pena IA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Meyer-Schuman R; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Antonellis A; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.; Department of Neurology, University of Michigan, Ann Arbor, Michigan, USA.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Riché R; Research Center of the University of Montreal Hospital Center (CRCHUM), Department of Neurosciences, Université de Montréal, Montreal, Quebec, Canada.; Liao M; Research Center of the University of Montreal Hospital Center (CRCHUM), Department of Neurosciences, Université de Montréal, Montreal, Quebec, Canada.; Pena IA; Children's Hospital of Eastern Ontario Research Institute and Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario, Canada.; Leung KY; Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Lepage N; Children's Hospital of Eastern Ontario Research Institute and Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ontario, Canada.; Greene NDE; Developmental Biology and Cancer Programme, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.; Sarafoglou K; Division of Pediatric Endocrinology, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.; Schimmenti LA; Department of Otorhinolaryngology.; Department of Pediatrics, and.; Department of Clinical Genomics, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.; Drapeau P; Research Center of the University of Montreal Hospital Center (CRCHUM), Department of Neurosciences, Université de Montréal, Montreal, Quebec, Canada.; DanioDesign Inc., Montréal, Quebec, Canada.; Samarut É; Research Center of the University of Montreal Hospital Center (CRCHUM), Department of Neurosciences, Université de Montréal, Montreal, Quebec, Canada.; DanioDesign Inc., Montréal, Quebec, Canada.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Pena IA; Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas (UNICAMP), 13083-875 Campinas, SP Brazil.; Marques LA; Thomson Mass Spectrometry Laboratory, Universidade Estadual de Campinas (UNICAMP), Campinas, SP 13083-861 Brazil.; Laranjeira AB; Centro Infantil Boldrini, Universidade Estadual de Campinas (UNICAMP), Campinas, SP 13083-210 Brazil.; Yunes JA; Centro Infantil Boldrini, Universidade Estadual de Campinas (UNICAMP), Campinas, SP 13083-210 Brazil ; Departamento de Genética Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, SP 13083-887 Brazil.; Eberlin MN; Thomson Mass Spectrometry Laboratory, Universidade Estadual de Campinas (UNICAMP), Campinas, SP 13083-861 Brazil.; Arruda P; Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas (UNICAMP), 13083-875 Campinas, SP Brazil ; Departamento de Genética e Evolução, Instituto de Biologia, Universidade Estadual de Campinas (UNICAMP), Campinas, SP 13083-970 Brazil.

Publisher: SpringerPlus Country of Publication: Switzerland NLM ID: 101597967 Publication Model: eCollection Cited Medium: Print ISSN: 2193-1801 (Print) Linking ISSN: 21931801 NLM ISO Abbreviation: Springerplus Subsets: PubMed not MEDLINE

Barreto P; Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas (UNICAMP), 13083-875 Campinas, SP, Brazil.; Okura V; Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas (UNICAMP), 13083-875 Campinas, SP, Brazil.; Pena IA; Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas (UNICAMP), 13083-875 Campinas, SP, Brazil.; Maia R; Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas (UNICAMP), 13083-875 Campinas, SP, Brazil.; Maia IG; Departamento de Genética, Instituto de Biociências, UNESP, 18618-970 Botucatu, SP, Brazil.; Arruda P; Centro de Biologia Molecular e Engenharia Genética, Universidade Estadual de Campinas (UNICAMP), 13083-875 Campinas, SP, Brazil Departamento de Genética e Evolução, Instituto de Biologia, Universidade Estadual de Campinas (UNICAMP), 13083-875 Campinas, SP, Brazil parruda@unicamp.br.

Publisher: Oxford University Press Country of Publication: England NLM ID: 9882906 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2431 (Electronic) Linking ISSN: 00220957 NLM ISO Abbreviation: J Exp Bot Subsets: MEDLINE