부산대학교 도서관

Vander Pol SL; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada.; MacKenzie JJ; Department of Pediatrics, Department of Medicine, Kingston General Hospital, Kingston, Ontario, Canada.; Harrison KJ; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada.; Reifel CW; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada.; Smith RML; Department of Radiology, Queen's University, Kingston, Ontario, Canada.; Medical Imaging, Kingston General Hospital, Kingston, Ontario, Canada.; Bale L; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada.; Pang SC; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada.; Taylor SAM; Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada.

Publisher: Blackwell Publishing Country of Publication: England NLM ID: 0137162 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7580 (Electronic) Linking ISSN: 00218782 NLM ISO Abbreviation: J Anat Subsets: MEDLINE

Chow AJ; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Saad A; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Al-Baldawi Z; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Iverson R; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Skidmore B; Ottawa, Ontario, Canada.; Jordan I; Squamish, British Columbia, Canada.; Pallone N; Sparwood, British Columbia, Canada.; Smith M; Canadian Organization for Rare Disorders, Ottawa, Ontario, Canada.; Chakraborty P; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Brehaut J; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Cohen E; Department of Pediatrics, University of Toronto/Hospital for Sick Children, Toronto, Ontario, Canada.; Dyack S; Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.; Gillis J; Moffit Cancer Care Center, Tampa, Florida, USA.; Goobie S; Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.; Greenberg CR; Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.; Hayeems R; Child Health Evaluative Sciences, University of Toronto/Hospital for Sick Children, Toronto, Ontario, Canada.; Hutton B; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Inbar-Feigenberg M; Division of Clinical & Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.; Jain-Ghai S; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Khangura S; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; MacKenzie JJ; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.; Department of Medicine, Queen's University, Kingston, Ontario, Canada.; Mitchell JJ; Montreal Children's Hospital, Montreal, Quebec, Canada.; Moazin Z; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Nicholls SG; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Pender A; McMaster Children's Hospital, Hamilton, Ontario, Canada.; Prasad C; Department of Pediatrics, Western University, London, Ontario, Canada.; Schulze A; Department of Biochemistry and Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.; Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.; Siriwardena K; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Sparkes RN; Alberta Children's Hospital, Calgary, Alberta, Canada.; Speechley KN; Departments of Pediatrics and Epidemiology and Biostatistics, Western University, London, Ontario, Canada.; Stockler S; BC Children's Hospital, Vancouver, British Columbia, Canada.; Taljaard M; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Teitelbaum M; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Trakadis Y; Montreal Children's Hospital, Montreal, Quebec, Canada.; Van Karnebeek C; Departments of Pediatrics and Human Genetics, Emma Center for Personalized Medicine, Amsterdam UMC, Amsterdam, The Netherlands.; Walia JS; Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.; Wilson K; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Bruyère Research Institute, Ottawa, Ontario, Canada.; Potter BK; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.

Publisher: Wiley Country of Publication: England NLM ID: 9815926 Publication Model: Print Cited Medium: Internet ISSN: 1369-7625 (Electronic) Linking ISSN: 13696513 NLM ISO Abbreviation: Health Expect Subsets: MEDLINE

Zepeda-Mendoza, Cinthya J; Ibn-Salem, Jonas; Kammin, Tammy; Harris, David J; Rita, Debra; Gripp, Karen W; MacKenzie, Jennifer J; Gropman, Andrea; Graham, Brett; Shaheen, Ranad; Alkuraya, Fowzan S; Brasington, Campbell K; Spence, Edward J; Masser-Frye, Diane; Bird, Lynne M; Spiegel, Erica; Sparkes, Rebecca L; Ordulu, Zehra; Talkowski, Michael E; Andrade-Navarro, Miguel A; Robinson, Peter N; Morton, Cynthia C

Zepeda-Mendoza, C J, Ibn-Salem, J, Kammin, T, Harris, D J, Rita, D, Gripp, K W, MacKenzie, J J, Gropman, A L, Graham, B H, Shaheen, R, Alkuraya, F S, Brasington, C K, Spence, E J, Masser-Frye, D, Bird, L M, Spiegel, E, Sparkes, R L, Ordulu, Z, Talkowski, M E, Andrade-Navarro, M A, Robinson, P N & Morton, C C 2017, 'Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2017.06.011
American Journal of Human Genetics, vol 101, iss 2

Harding B; Department of Pediatrics, McMaster University, Hamilton, Ontario, Canada.; Webber C; Queen's University, 99 University Avenue, Kingston, Ontario, K7L 3N6, Canada.; Rühland L; Queen's University, 99 University Avenue, Kingston, Ontario, K7L 3N6, Canada.; Dalgarno N; Botterell Hall, Queen's University, 18 Stuart Street, Kingston, Ontario, K7L 3N6, Canada.; Armour C; Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.; Birtwhistle R; Department of Public Health, Kingston, Ontario, Canada.; Brown G; Centre for Studies in Primary Care, Queen's University, 220 Bagot Street, P.O.#8888, Kingston, Ontario, K7L 5E9, Canada.; Carroll JC; Department of Family and Community Medicine, Granovsky Gluskin Family Medicine Centre, Mount Sinai Hospital, University of Toronto, 60 Murray St., 4th Floor, Box 25, Toronto, Ontario, M5T 3L9, Canada.; Flavin M; Department of Pediatrics, Faculty of Health Sciences, Queen's University, Kingston, Ontario, Canada.; Phillips SP; Centre for Studies in Primary Care, Queen's University, 220 Bagot Street, P.O.#8888, Kingston, Ontario, K7L 5E9, Canada.; MacKenzie JJ; Department of Pediatrics, McMaster Children's Hospital, 1280, Main St. West, 3N11-G, Hamilton, Ontario, L8S 4K1, Canada. mackej4@mcmaster.ca.; Department of Medicine, Queen's University, Kingston, Ontario, Canada. mackej4@mcmaster.ca.

Publisher: BioMed Central Country of Publication: England NLM ID: 101088679 Publication Model: Electronic Cited Medium: Internet ISSN: 1472-6920 (Electronic) Linking ISSN: 14726920 NLM ISO Abbreviation: BMC Med Educ Subsets: MEDLINE

Anger, Gregory J; Crocker, Susan; McKenzie, Kyle; Brown, Kerry K; Morton, Cynthia C; Harrison, Karen; MacKenzie, Jennifer J

Anger, G J, Crocker, S, McKenzie, K, Brown, K K, Morton, C C, Harrison, K & MacKenzie, J J 2014, 'X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4.', American journal of audiology, vol. 23, no. 1. https://doi.org/10.1044/1059-0889(2013/13-0018)

Chow AJ; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Iverson R; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Lamoureux M; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Tingley K; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Jordan I; Patient Partner, Squamish, British Columbia, Canada.; Pallone N; Patient Partner, Canadian PKU & Allied Disorders Inc, Toronto, Ontario, Canada.; Smith M; Patient Partner, Canadian Organization for Rare Disorders, Toronto, Ontario, Canada.; Al-Baldawi Z; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Chakraborty P; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Brehaut J; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Chan A; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Cohen E; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Pediatric Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.; Dyack S; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.; Gillis LJ; Department of Medicine, Johns Hopkins All Children's Hospital, St Petersburg, Florida, USA.; Goobie S; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.; Graham ID; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Greenberg CR; Rady Faculty of Health Sciences, Max Rady College of Medicine, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada.; Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.; Grimshaw JM; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Hayeems RZ; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada.; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, ON, Canada.; Jain-Ghai S; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Jolly A; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Contagion Consulting Group, Ottawa, Ontario, Canada.; Khangura S; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; MacKenzie JJ; Hamilton Health Sciences, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Major N; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Department of Pediatrics, University of Ottawa, Ottawa, Ontario, Canada.; Mitchell JJ; Division of Pediatric Endocrinology, Department of Pediatrics, Montreal Children's Hospital, Montreal, Quebec, Canada.; Nicholls SG; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Ottawa Methods Centre, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Pender A; Hamilton Health Sciences, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Potter M; Hamilton Health Sciences, McMaster Children's Hospital, Hamilton, Ontario, Canada.; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.; Prasad C; Department of Pediatrics, Western University, London, Ontario, Canada.; Prosser LA; Department of Pediatrics, Susan B. Meister Child Health Evaluation and Research Center, University of Michigan, Ann Arbor, Michigan, USA.; Schulze A; Department of Pediatrics, University of Toronto, Toronto, Ontario, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Siriwardena K; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Sparkes R; Departments of Medical Genetics and Pediatrics, Alberta Children's Hospital, Calgary, Alberta, Canada.; Speechley K; Department of Pediatrics, Western University, London, Ontario, Canada.; Stockler S; Department of Pediatrics, BC Children's Hospital, Vancouver, British Columbia, Canada.; Taljaard M; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Teitelbaum M; Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Trakadis Y; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.; van Karnebeek C; Department of Pediatrics, Radboud University Medical Center, Nijmegen, Gelderland, The Netherlands.; Department of Pediatrics, British Columbia Children's Hospital, Vancouver, British Columbia, Canada.; Walia JS; Medical Genetics, Department of Pediatrics, Kingston Health Sciences Centre, Kingston, Ontario, Canada.; Department of Pediatrics, Queen's University, Kingston, Ontario, Canada.; Wilson BJ; Faculty of Medicine Division of Community Health and Humanities, Memorial University of Newfoundland, St. John's, Newfoundland, Canada.; Wilson K; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada.; Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.; Department of Medicine, University of Ottawa, Ottawa, Ontario, Canada.; Bruyere Research Institute, Ottawa, Ontario, Canada.; Potter BK; School of Epidemiology and Public Health, University of Ottawa, Ottawa, Ontario, Canada Beth.potter@uottawa.ca.

Publisher: BMJ Publishing Group Ltd Country of Publication: England NLM ID: 101552874 Publication Model: Electronic Cited Medium: Internet ISSN: 2044-6055 (Electronic) Linking ISSN: 20446055 NLM ISO Abbreviation: BMJ Open Subsets: MEDLINE

Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. cousin.margot@mayo.edu.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. cousin.margot@mayo.edu.; Creighton BA; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Breau KA; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Spillmann RC; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Torti E; GeneDx, Gaithersburg, MD, USA.; Dontu S; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Tripathi S; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Ajit D; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Edwards RJ; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Afriyie S; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Bay JC; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Harper KM; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Beltran AA; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Munoz LJ; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Falcon Rodriguez L; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Stankewich MC; Department of Pathology, Yale University, New Haven, CT, USA.; Person RE; GeneDx, Gaithersburg, MD, USA.; Si Y; GeneDx, Gaithersburg, MD, USA.; Normand EA; GeneDx, Gaithersburg, MD, USA.; Blevins A; GeneDx, Gaithersburg, MD, USA.; May AS; Department of Neurology, Columbia University, New York, NY, USA.; Bier L; Institute for Genomic Medicine, Columbia University, New York, NY, USA.; Aggarwal V; Institute for Genomic Medicine, Columbia University, New York, NY, USA.; Laboratory of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Becker J; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; Aretz S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.; MacKenzie JJ; McMaster University, Hamilton, Ontario, Canada.; Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Parsons GM; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.; Mark P; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.; Helbig I; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.; McKeown SE; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Stratton R; Genetics, Driscoll Children's Hospital, Corpus Christi, TX, USA.; Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.; Cacheiro P; William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Smedley D; William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.; Firth HV; Department of Clinical Genetics, Cambridge University Hospitals, Cambridge, UK.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Weiss D; Neuropediatrics, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Fairley C; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.; Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Jayakar P; Nicklaus Children's Hospital, Miami, FL, USA.; Kurtz-Nelson E; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.; Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; van de Laar IMBH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.; McConkie-Rosell A; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; McDonald MT; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Gunderson LB; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Pichurin PN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Yoon G; Divisions of Clinical/Metabolic Genetics and Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Jech R; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.; Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Beltran AS; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Pharmacology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.; Temple B; Department of Biochemistry and Biophysics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Moy SS; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Tan QK; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.; Lorenzo DN; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. damaris_lorenzo@med.unc.edu.; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. damaris_lorenzo@med.unc.edu.; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. damaris_lorenzo@med.unc.edu.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Pang K; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Ciolfi A; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.; Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Pedace L; Oncohaematology Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Pantaleoni F; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Liu Z; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.; Jackson A; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.; Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.; McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.; Stellacci E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.; Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.; Motta M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Carrozzo R; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; Dentici ML; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.; McWalter K; GeneDx, Gaithersburg, MD 20877, USA.; Desai M; GeneDx, Gaithersburg, MD 20877, USA.; Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.; Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.; Philippe C; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.; Vitobello A; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.; Au M; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.; Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.; Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.; Baez J; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.; Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.; Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.; Roadhouse C; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; MacKenzie JJ; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.; Monteleone B; Clinical genetics, NYU Langone Long Island School of Medicine, Mineola, NY 11501, USA.; Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Jean Cuevas JK; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Cross L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Zhou D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.; Hartley T; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.; Sawyer SL; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.; Monteiro FP; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.; Secches TV; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.; Kok F; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.; Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Iascone M; Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy.; Selicorni A; Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy.; Tenconi R; Dipartimento di Pediatria, Università di Padova, 35137 Padua, Italy.; Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Pais L; Medical and Populations Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.; Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.; Ellard S; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.; Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.; Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.; Pascal J; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.; Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.; Ravid S; Pediatric Neurology Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; Weiss K; Genetics Institute, Rambam Health Care Campus, Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa 3109601, Israel.; Castle AMR; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.; Carter MT; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.; Kalsner L; Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, CT 06032, USA.; de Vries BBA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.; van Bon BW; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.; Wevers MR; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.; Pfundt R; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.; Stegmann APA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.; Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.; Kingston HM; 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Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.; Hagelstrom RT; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.; Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.; Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.; Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.; Kurtz-Nelson EC; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.; Earl RK; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.; Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.; Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, 80054 Amiens, France.; van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.; Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.; Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.; Gribnau J; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.; Boers RG; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.; Finestra TR; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.; Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital Atrium Health, Charlotte, NC 28203, USA.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.; Gasparini P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy; Department of Medicine, Surgery & Health Science, University of Trieste, 34143 Trieste, Italy.; Boycott KM; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.; Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.; Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, 77908 Dijon, France; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, 77908 Dijon, France.; Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.; Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Eichler EE; 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Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Tartaglia M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: marco.tartaglia@opbg.net.

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

Ryan E; National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Amato D; Mark Freedman and Judy Jacobs Program for Gaucher Disease, Mount Sinai Hospital Toronto Ontario Canada.; MacKenzie JJ; McMaster University Hamilton Ontario Canada.; Queen's University Kingston Ontario Canada.; Sidransky E; National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.; Lopez G; National Human Genome Research Institute, National Institutes of Health Bethesda Maryland USA.

Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: eCollection Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: PubMed not MEDLINE

Piteau, Shalea J; Rossiter, John P; Smith, R Garth; MacKenzie, Jennifer J

Pediatric Neurology (PEDIATR NEUROL), Aug2014; 51(2): 192-197. (6p)

MacKenzie, Jennifer J; Stockley, Denise; Hastings-Truelove, Amber; Nowlan Suart, Theresa; Katsoulas, Eleni; Kawaja, Michael; Reznick, Richard; Sanfilippo, Anthony

Journal of Medical Education & Curricular Development. 3/28/2019, Vol. 6, pN.PAG-N.PAG. 1p.

Tao P; The MOE Key Laboratory of Biosystems Homeostasis & Protection, Life Sciences Institute, Zhejiang University, Hangzhou, China.; Sun J; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.; Wu Z; Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.; Wang S; The MOE Key Laboratory of Biosystems Homeostasis & Protection, Life Sciences Institute, Zhejiang University, Hangzhou, China.; Wang J; The MOE Key Laboratory of Biosystems Homeostasis & Protection, Life Sciences Institute, Zhejiang University, Hangzhou, China.; Li W; Department of Cell Biology, Harvard Medical School, Boston, MA, USA.; Pan H; Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.; Bai R; GeneDx, Gaithersburg, MD, USA.; Zhang J; The MOE Key Laboratory of Biosystems Homeostasis & Protection, Life Sciences Institute, Zhejiang University, Hangzhou, China.; Wang Y; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.; Lee PY; Division of Immunology, Boston Children's Hospital, Boston, MA, USA.; Ying W; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.; Zhou Q; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.; Hou J; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.; Wang W; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.; Sun B; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.; Yang M; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.; Liu D; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China.; Fang R; The MOE Key Laboratory of Biosystems Homeostasis & Protection, Life Sciences Institute, Zhejiang University, Hangzhou, China.; Han H; The MOE Key Laboratory of Biosystems Homeostasis & Protection, Life Sciences Institute, Zhejiang University, Hangzhou, China.; Yang Z; The MOE Key Laboratory of Biosystems Homeostasis & Protection, Life Sciences Institute, Zhejiang University, Hangzhou, China.; Huang X; Interdisciplinary Research Center on Biology and Chemistry, Shanghai Institute of Organic Chemistry, Chinese Academy of Sciences, Shanghai, China.; Li H; Ningbo Women and Children's Hospital, Ningbo, China.; Deuitch N; Department of Human Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Zhang Y; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; Dissanayake D; Division of Rheumatology, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.; Haude K; GeneDx, Gaithersburg, MD, USA.; McWalter K; GeneDx, Gaithersburg, MD, USA.; Roadhouse C; Department of Pediatrics, McMaster Children's Hospital, Hamilton, Ontario, Canada.; MacKenzie JJ; Department of Pediatrics, McMaster Children's Hospital, Hamilton, Ontario, Canada.; McMaster University, Hamilton, Ontario, Canada.; Laxer RM; Division of Rheumatology, Departments of Paediatrics and Medicine, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.; Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Yu X; The MOE Key Laboratory of Biosystems Homeostasis & Protection, Life Sciences Institute, Zhejiang University, Hangzhou, China. yuxiaomin78@gmail.com.; Wang X; Department of Clinical Immunology, Children's Hospital of Fudan University, Shanghai, China. xchwang@shmu.edu.cn.; Yuan J; Department of Cell Biology, Harvard Medical School, Boston, MA, USA. junying_yuan@hms.harvard.edu.; Zhou Q; The MOE Key Laboratory of Biosystems Homeostasis & Protection, Life Sciences Institute, Zhejiang University, Hangzhou, China. zhouq2@zju.edu.cn.; Women's Hospital, Zhejiang University School of Medicine, Hangzhou, China. zhouq2@zju.edu.cn.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Simpson SM; Queen's University, Department of Ophthalmology, Kingston Health Sciences Centre, Hotel Dieu Hospital, Kingston, Ont.; MacKenzie JJ; McMaster University, Department of Pediatrics, Division of Genetics, McMaster Children's Hospital, Hamilton, Ont.; Queen's University, Department of Pediatrics, Kingston Health Sciences Centre, Kingston General Hospital, Kingston, Ont.; Strube YNJ; Queen's University, Department of Ophthalmology, Kingston Health Sciences Centre, Hotel Dieu Hospital, Kingston, Ont.. Electronic address: yining.strube@queensu.ca.

Publisher: Elsevier Country of Publication: England NLM ID: 0045312 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1715-3360 (Electronic) Linking ISSN: 00084182 NLM ISO Abbreviation: Can J Ophthalmol Subsets: MEDLINE

Harding B; Office of Health Sciences Education, Queen's University, Botterell Hall, Room 217, Kingston, Ontario, K7L 2N6, Canada.; Webber C; Queen's University, 99 University Avenue, Kingston, Ontario, K7L 3N6, Canada.; Ruhland L; Queen's University, 99 University Avenue, Kingston, Ontario, K7L 3N6, Canada.; Dalgarno N; Office of Health Sciences Education, Queen's University, Botterell Hall, Room 217, 18 Stuart Street, Kingston, Ontario, K7L 3N6, Canada.; Armour CM; Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada.; Birtwhistle R; Centre for Studies in Primary Care, Queen's University, 220 Bagot Street, P.O.#8888, Kingston, Ontario, K7L 5E9, Canada.; Brown G; Department of Family Medicine, 220 Bagot Street, Kingston, Ontario, K7L 5E9, Canada.; Carroll JC; Department of Family & Community Medicine, Mount Sinai Hospital, Granovsky Gluskin Family Medicine Centre, University of Toronto, 60 Murray St., 4th Floor, Box 25, Toronto, Ontario, M5T 3L9, Canada.; Flavin M; Kingston General Hospital, 76 Stuart Street, Kingston, Ontario, K7L 2V7, Canada.; Phillips S; Department of Family Medicine, 220 Bagot Street, Kingston, Ontario, K7L 5E9, Canada.; MacKenzie JJ; Department of Pediatrics, McMaster Children's Hospital, 1280 Main St. West, 3N11-G, Hamilton, ON, L8S 4K1, Canada. mackej4@mcmaster.ca.

Publisher: Springer Country of Publication: Germany NLM ID: 101551501 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1868-310X (Print) Linking ISSN: 1868310X NLM ISO Abbreviation: J Community Genet Subsets: PubMed not MEDLINE

Harding B; Department of Health Sciences Education, Queen's University, Kingston, ON, Canada.; Egan R; Queen's University, Kingston, ON, Canada.; Kannu P; The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada.; MacKenzie JJ; Department of Pediatrics, Queen's University, Kingston, ON, Canada. jm36@queensu.ca.

Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE

Yan K; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada.; Rousseau J; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.; Littlejohn RO; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 77030, USA.; Kiss C; Kingston General Hospital, 76 Stuart Street, Armstrong 4, Kingston, ON K7L 2V7, Canada.; Lehman A; Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Stumpel CTR; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, Maastricht 6229, the Netherlands.; Stegmann APA; Department of Clinical Genetics and School for Oncology & Developmental Biology, Maastricht University Medical Center, Maastricht 6229, the Netherlands.; Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Nguyen TTM; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.; Fu H; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.; Ajeawung NF; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.; Camurri MV; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada.; Li L; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada.; Gardham A; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK.; Panis B; Department of Pediatrics, Zuyderland Medical Center, Heerlen and Sittard 6419, the Netherlands.; Almannai M; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Sacoto MJG; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Baskin B; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300RC, the Netherlands.; Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Cho MT; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Potjer TP; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300RC, the Netherlands.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden 2300RC, the Netherlands.; Parker MJ; Sheffield Clinical Genetics Service, OPD2, Northern General Hospital, Herries Road, Sheffield S5 7AU, UK.; Canham N; North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Northwick Park Hospital, Watford Road, Harrow HA1 3UJ, UK.; McKinnon M; Department of Medical Genetics, University of British Columbia, 4500 Oak Street, Vancouver, BC V6H 3N1, Canada.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; MacKenzie JJ; Kingston General Hospital, 76 Stuart Street, Armstrong 4, Kingston, ON K7L 2V7, Canada; Division of Clinical Genetics, Department of Pediatrics, McMaster University, Hamilton, ON L8S 4K1, Canada.; Roeder ER; Department of Pediatrics, Baylor College of Medicine, San Antonio, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.; Campeau PM; CHUSJ Research Center, CHU Sainte-Justine, Montreal, QC H3T 1J4, Canada; Department of Pediatrics, Sainte-Justine Hospital and University of Montreal, QC H3T 1J4, Canada. Electronic address: p.campeau@umontreal.ca.; Yang XJ; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada. Electronic address: xiang-jiao.yang@mcgill.ca.

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

Abdullah S; School of Medicine, Queen's University, Kingston, ON, Canada.; Reginold W; Department of Medical Imaging, University of Toronto, Toronto, ON, Canada.; Kiss C; Department of Pediatrics, Kingston General Hospital, Kingston, ON, Canada.; Harrison KJ; Department of Pathology and Laboratory Medicine, IWK Health Centre, Halifax, NS, Canada; Department of Pathology, Dalhousie University, Halifax, NS, Canada.; MacKenzie JJ; School of Medicine, Queen's University, Kingston, ON, Canada; Department of Pediatrics, Kingston General Hospital, Kingston, ON, Canada.

Publisher: Wiley Country of Publication: United States NLM ID: 101581030 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2090-6803 (Print) Linking ISSN: 20906811 NLM ISO Abbreviation: Case Rep Pediatr Subsets: PubMed not MEDLINE

Várkonyi J; 3rd Department of Internal Medicine, Semmelweis University, Budapest, Hungary.; Rosenbaum H; Baumann N; MacKenzie JJ; Simon Z; Aharon-Peretz J; Walker JM; Tayebi N; Sidransky E

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825 (Print) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE