부산대학교 도서관

Büsch K; KJM Büsch Consulting GmbH, Industriestrasse 24, 6300, Zug, Switzerland.; Memmott HL; Pharming Healthcare, Inc., 10 Independence Blvd, Warren, NJ, 07059, USA.; McLaughlin HM; Pharming Healthcare, Inc., 10 Independence Blvd, Warren, NJ, 07059, USA.; Upton JEM; Division of Immunology and Allergy, Department of Paediatrics, The Hospital For Sick Children, 175 Elizabeth St, Room 13-14-027, Toronto, ON, M5G 2G3, Canada.; Department of Paediatrics, Temerty School of Medicine, University of Toronto, 1 King's College Circle, Toronto, ON, M5S 1A8, Canada.; Harrington A; Pharming Healthcare, Inc., 10 Independence Blvd, Warren, NJ, 07059, USA. A.Harrington@pharming.com.

Publisher: Health Communications Inc Country of Publication: United States NLM ID: 8611864 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1865-8652 (Electronic) Linking ISSN: 0741238X NLM ISO Abbreviation: Adv Ther Subsets: MEDLINE

MacCarrick G; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Aradhya S; Invitae Corporation, San Francisco, California, USA.; Bailey M; BioMarin Pharmaceutical Inc, Novato, California, USA.; Chu D; BioMarin Pharmaceutical Inc, Novato, California, USA.; Hunt A; BioMarin Pharmaceutical Inc, Novato, California, USA.; Izzo E; BioMarin Pharmaceutical Inc, Novato, California, USA.; Krakow D; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, USA.; Mackenzie W; Department of Orthopaedic Surgery, Nemours Children's Hospital, Wilmington, Delaware, USA.; Poll S; Invitae Corporation, San Francisco, California, USA.; Raggio C; Department of Orthopedic Surgery, Hospital for Special Surgery, New York, New York, USA.; Shediac R; BioMarin Pharmaceutical Inc, Novato, California, USA.; White KK; Department of Pediatric Orthopedic Surgery, Children's Hospital Colorado, Aurora, Colorado, USA.; McLaughlin HM; Invitae Corporation, San Francisco, California, USA.; Seratti G; BioMarin Pharmaceutical Inc, Novato, California, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Rotse, Biliana O Veleva; Giuliano, Joseph G; McPherson, Katherine L; Willcock, Andrew T; McLaughlin, Heather M

Journal of Cardiac Failure. 29(4):696-696

Otto, Edgar A.; Hurd, Toby W; Airik, Rannar; Chaki, Moumita; Zhou, Weibin; Stoetzel, Corinne; Patil, Suresh B; Levy, Shawn; Ghosh, Amiya K; Murga-Zamalloa, Carlos A; van Reeuwijk, Jeroen; Letteboer, Stef J F; Sang, Liyun; Giles, Rachel H; Liu, Qin; Coene, Karlien L M; Estrada-Cuzcano, Alejandro; Collin, Rob W J; McLaughlin, Heather M; Held, Susanne

Nature Genetics. Oct2010, Vol. 42 Issue 10, p840-850. 11p. 2 Color Photographs, 1 Diagram, 1 Chart, 3 Graphs.

Rheault MN; Masonic Children's Hospital, University of Minnesota, Minneapolis, MN, USA. rheau002@umn.edu.; McLaughlin HM; Invitae® Corporation, San Francisco, CA, USA.; Mitchell A; Invitae® Corporation, San Francisco, CA, USA.; Blake LE; Invitae® Corporation, San Francisco, CA, USA.; Devarajan P; Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.; Warady BA; Children's Mercy Kansas City, University of Missouri-Kansas City, Kansas City, MO, USA.; Gibson KL; University of NC at Chapel Hill, Chapel Hill, NC, USA.; Lieberman KV; Joseph M. Sanzari Children's Hospital, Hackensack Meridian School of Medicine, Hackensack, NJ, USA.

Publisher: Springer International Country of Publication: Germany NLM ID: 8708728 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-198X (Electronic) Linking ISSN: 0931041X NLM ISO Abbreviation: Pediatr Nephrol Subsets: MEDLINE

Gilbert KM; Department of Population Medicine, Harvard Pilgrim Health Care Institute, Boston, Mass. Electronic address: karenmgilbert@gmail.com.; McLaughlin HM; Pharming Healthcare, Inc, Department of Medical Affairs, Warren, NJ.; Farmer JR; Clinical Immunodeficiency Program of Beth Israel Lahey Health, Division of Allergy and Immunology, Lahey Hospital and Medical Center, Burlington, Mass.; Ong MS; Department of Population Medicine, Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, Mass.

Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101597220 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2213-2201 (Electronic) NLM ISO Abbreviation: J Allergy Clin Immunol Pract Subsets: MEDLINE

Burns W; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Bird LM; San Diego - Department of Pediatrics, University of California, San Diego, California, USA.; Division of Genetics/Dysmorphology, Rady Children's Hospital San Diego, San Diego, California, USA.; Heron D; Département de Génétique, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France.; Keren B; Département de Génétique, Pitié-Salpêtrière Hospital, APHP.Sorbonne Université, Paris, France.; Ramachandra D; Division of Genetics, Advocate Hope Children's Hospital, Oak Lawn, Illinois, USA.; Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.; Del Viso F; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Amudhavalli S; Department of Pediatics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Engleman K; Department of Pediatics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Parenti I; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Kaiser FJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany.; Wierzba J; Department of Pediatric and Internal Medicine Nursing, Medical University of Gdańsk, Poland.; Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Liptay S; Department of Pediatrics, Kinderklinik München Schwabing, School of Medicine, Technical University of Munich, Munich, Germany.; Zadeh N; Genetics Center, Orange, California, USA.; Division of Medical Genetics, CHOC Children's Hospital, Orange, California, USA.; Porrmann J; Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstr. 74, Institute for Clinical Genetics, Dresden, Germany.; Fischer A; Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstr. 74, Institute for Clinical Genetics, Dresden, Germany.; Gößwein S; Faculty of Medicine Carl Gustav Carus, TU Dresden, Fetscherstr. 74, Institute for Clinical Genetics, Dresden, Germany.; McLaughlin HM; Invitae Corporation, San Francisco, California, USA.; Telegrafi A; GeneDx, Gaithersburg, Maryland, USA.; Langley KG; GeneDx, Gaithersburg, Maryland, USA.; Steet R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Leshchiner, Ignaty; Krier, Joel; Bates, David W; Carere, Alexis D; Cirino, Allison; Connor, Lauren; Christensen, Kurt D; Duggan, Jake; Green, Robert C; Ho, Carolyn Y; Krier, Joel B; Lane, William J; Lautenbach, Denise M; Lehmann, Lisa; Liu, Christina; MacRae, Calum A; Miller, Rachel; Morton, Cynthia C; Seidman, Christine E; Sunyaev, Shamil; Vassy, Jason L; Aronson, Sandy; Ceyhan-Birsoy, Ozge; Gowrisankar, Siva; Lebo, Matthew S; Leschiner, Ignat; Machini, Kalotina; McLaughlin, Heather M; Metterville, Danielle R; Rehm, Heidi L; Blumenthal-Barby, Jennifer; Feuerman, Lindsay Zausmer; McGuire, Amy L; Panchang, Sarita; Robinson, Jill Oliver; Slashinski, Melody J; Alexander, Stewart C; Davis, Kelly; Ubel, Peter A; Kraft, Peter; Roberts, J Scott; Garber, Judy E; Hambuch, Tina; Murray, Michael F; Kohane, Isaac S; Kong, Sek Won; Lee, In-Hee

Leshchiner, I, Krier, J, Bates, D W, Carere, A D, Cirino, A, Connor, L, Christensen, K D, Duggan, J, Green, R C, Ho, C Y, Krier, J B, Lane, W J, Lautenbach, D M, Lehmann, L, Liu, C, MacRae, C A, Miller, R, Morton, C C, Seidman, C E, Sunyaev, S, Vassy, J L, Aronson, S, Ceyhan-Birsoy, O, Gowrisankar, S, Lebo, M S, Leschiner, I, Machini, K, McLaughlin, H M, Metterville, D R, Rehm, H L, Blumenthal-Barby, J, Feuerman, L Z, McGuire, A L, Panchang, S, Robinson, J O, Slashinski, M J, Alexander, S C, Davis, K, Ubel, P A, Kraft, P, Roberts, J S, Garber, J E, Hambuch, T, Murray, M F, Kohane, I S, Kong, S W & Lee, I-H 2015, 'Summarizing polygenic risks for complex diseases in a clinical whole-genome report.', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 17, no. 7. https://doi.org/10.1038/gim.2014.143

Brownstein, Catherine A; Beggs, Alan H; Homer, Nils; Merriman, Barry; Yu, Timothy W; Flannery, Katherine C; DeChene, Elizabeth T; Towne, Meghan C; Savage, Sarah K; Price, Emily N; Holm, Ingrid A; Luquette, Lovelace J; Lyon, Elaine; Majzoub, Joseph; Neupert, Peter; McCallie Jr, David; Szolovits, Peter; Willard, Huntington F; Mendelsohn, Nancy J; Temme, Renee; Finkel, Richard S; Yum, Sabrina W; Medne, Livija; Sunyaev, Shamil R; Adzhubey, Ivan; Cassa, Christopher A; de Bakker, Paul IW; Duzkale, Hatice; DworzyÅski, Piotr; Fairbrother, William; Francioli, Laurent; Funke, Birgit H; Giovanni, Monica A; Handsaker, Robert E; Lage, Kasper; Lebo, Matthew S; Lek, Monkol; Leshchiner, Ignaty; MacArthur, Daniel G; McLaughlin, Heather M; Murray, Michael F; Pers, Tune H; Polak, Paz P; Raychaudhuri, Soumya; Rehm, Heidi L; Soemedi, Rachel; Stitziel, Nathan O; Vestecka, Sara; Supper, Jochen; Gugenmus, Claudia; Klocke, Bernward; Hahn, Alexander; Schubach, Max; Menzel, Mortiz; Biskup, Saskia; Freisinger, Peter; Deng, Mario; Braun, Martin; Perner, Sven; Smith, Richard JH; Andorf, Janeen L; Huang, Jian; Ryckman, Kelli; Sheffield, Val C; Stone, Edwin M; Bair, Thomas; Black-Ziegelbein, E Ann; Braun, Terry A; Darbro, Benjamin; DeLuca, Adam P; Kolbe, Diana L; Scheetz, Todd E; Shearer, Aiden E; Sompallae, Rama; Wang, Kai; Bassuk, Alexander G; Edens, Erik; Mathews, Katherine; Moore, Steven A; Shchelochkov, Oleg A; Trapane, Pamela; Bossler, Aaron; Campbell, Colleen A; Heusel, Jonathan W; Kwitek, Anne; Maga, Tara; Panzer, Karin; Wassink, Thomas; Van Daele, Douglas; Azaiez, Hela; Booth, Kevin; Meyer, Nic; Segal, Michael M; Williams, Marc S; Tromp, Gerard; White, Peter; Corsmeier, Donald; Fitzgerald-Butt, Sara; Herman, Gail; Lamb-Thrush, Devon; McBride, Kim L; Newsom, David; Pierson, Christopher R; Rakowsky, Alexander T; Maver, AleÅ¡; LovreciÄ, Luca; PalandaciÄ, Anja; Peterlin, Borut; Torkamani, Ali; Wedell, Anna; Huss, Mikael; Alexeyenko, Andrey; Lindvall, Jessica M; Magnusson, Måns; Nilsson, Daniel; Stranneheim, Henrik; Taylan, Fulya; Gilissen, Christian; Hoischen, Alexander; van Bon, Bregje; Yntema, Helger; Nelen, Marcel; Zhang, Weidong; Sager, Jason; Zhang, Lu; Blair, Kathryn; Kural, Deniz; Cariaso, Michael; Lennon, Greg G; Javed, Asif; Agrawal, Saloni; Ng, Pauline C; Sandhu, Komal S; Krishna, Shuba; Veeramachaneni, Vamsi; Isakov, Ofer; Halperin, Eran; Friedman, Eitan; Shomron, Noam; Glusman, Gustavo; Roach, Jared C; Caballero, Juan; Cox, Hannah C; Mauldin, Denise; Ament, Seth A; Rowen, Lee; Richards, Daniel R; Lucas, F Anthony San; Gonzalez-Garay, Manuel L; Caskey, C Thomas; Bai, Yu; Huang, Ying; Fang, Fang; Zhang, Yan; Wang, Zhengyuan; Barrera, Jorge; Garcia-Lobo, Juan M; González-Lamuéo, Domingo; Llorca, Javier; Rodriguez, Maria C; Varela, Ignacio; Reese, Martin G; De La Vega, Francisco M; Kiruluta, Edward; Cargill, Michele; Hart, Reece K; Sorenson, Jon M; Lyon, Gholson J; Stevenson, David A; Bray, Bruce E; Moore, Barry M; Eilbeck, Karen; Yandell, Mark; Zhao, Hongyu; Hou, Lin; Chen, Xiaowei; Yan, Xiting; Chen, Mengjie; Li, Cong; Yang, Can; Gunel, Murat; Li, Peining; Kong, Yong; Alexander, Austin C; Albertyn, Zayed I; Boycott, Kym M; Bulman, Dennis E; Gordon, Paul MK; Innes, A Micheil; Knoppers, Bartha M; Majewski, Jacek; Marshall, Christian R; Parboosingh, Jillian S; Sawyer, Sarah L; Samuels, Mark E; Schwartzentruber, Jeremy; Kohane, Isaac S; Margulies, David M

Genome Biology (Online Edition). March 25, 2014, Vol. 15

Vassy, Jason L; Lautenbach, Denise M; McLaughlin, Heather M; Kong, Sek Won; Christensen, Kurt D; Krier, Joel; Kohane, Isaac S; Feuerman, Lindsay Z; Blumenthal-Barby, Jennifer; Roberts, J Scott; Lehmann, Lisa Soleymani; Ho, Carolyn Y; Ubel, Peter A; MacRae, Calum A; Seidman, Christine E; Murray, Michael F; McGuire, Amy L; Rehm, Heidi L; Green, Robert C

Trials. March 20, 2014, Vol. 15

Klöckner, Chiara; Sticht, Heinrich; Zacher, Pia; Popp, Bernt; Babcock, Holly E; Bakker, Dewi P; Barwick, Katy; Bonfert, Michaela V; Bönnemann, Carsten G; Brilstra, Eva H; Chung, Wendy K; Clarke, Angus J; Devine, Patrick; Donkervoort, Sandra; Fraser, Jamie L; Friedman, Jennifer; Gates, Alyssa; Ghoumid, Jamal; Hobson, Emma; Horvath, Gabriella; Keller-Ramey, Jennifer; Keren, Boris; Kurian, Manju A; Lee, Virgina; Leppig, Kathleen A; Lundgren, Johan; McDonald, Marie T; McLaughlin, Heather M; McTague, Amy; Mefford, Heather C; Mignot, Cyril; Mikati, Mohamad A; Nava, Caroline; Raymond, F Lucy; Sampson, Julian R; Sanchis-Juan, Alba; Shashi, Vandana; Shieh, Joseph T C; Shinawi, Marwan; Slavotinek, Anne; Stödberg, Tommy; Stong, Nicholas; Sullivan, Jennifer A; Taylor, Ashley C; Toler, Tomi L; van den Boogaard, Marie-José; van der Crabben, Saskia N; van Gassen, Koen L I; van Jaarsveld, Richard H; Van Ziffle, Jessica; Wadley, Alexandrea F; Wagner, Matias; Wigby, Kristen; Wortmann, Saskia B; Zarate, Yuri A; Møller, Rikke S; Lemke, Johannes R; Platzer, Konrad

Genetics in medicine. 23(4):796-796

Tremblay-Laganière C; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Nguyen TTM; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Karimiani EG; Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George's Hospital, University of London, London, UK.; Next Generation Genetic Polyclinic, Mashhad, Iran.; Kirmani S; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.; Akbar F; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.; Ibrahim S; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.; Afroze B; Department of Pediatrics & Child Health, Aga Khan University, Karachi, Pakistan.; Doosti M; Next Generation Genetic Polyclinic, Mashhad, Iran.; Ashrafzadeh F; Department of Pediatric Neurology, Mashhad University of Medical Sciences, Mashhad, Iran.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Christoforou M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Sultan T; Department of Pediatric Neurology, Institute of Child Health, The Children's Hospital Lahore, Lahore, Pakistan.; Ladda RL; Department of Pediatrics, Milton S Hershey Medical Centre, Hershey, PA, USA.; McLaughlin HM; Invitae Corporation, San Francisco, CA, USA.; Truty R; Invitae Corporation, San Francisco, CA, USA.; Mahida S; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Baranano K; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Ismail FY; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Pediatrics, United Arab Emirates University, Al Ain, UAE.; Patel MS; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Lehman A; Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.; Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Nagy A; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Walker MA; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Stollery Children's Hospital, Alberta Health Services, Edmonton, AB, Canada.; Maki Y; Department of Chemistry, Graduate School of Science, Osaka University, Toyonaka, Osaka, Japan.; Project Research Center for Fundamental Sciences, Graduate School of Science, Osaka University, Toyonaka, Osaka, Japan.; Sachdev R; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.; School of Women's and Children's Health, University of New South Wales, High St, Randwick, UK.; Macintosh R; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.; Palmer EE; Sydney Children's Hospital, Centre for Clinical Genetics, Sydney Children's Hospital, High St, Randwick, UK.; School of Women's and Children's Health, University of New South Wales, High St, Randwick, UK.; Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, CA, Rotterdam, The Netherlands.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands, CA, Rotterdam, The Netherlands.; Steinfeld R; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Rüsch CT; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Stettner GM; Department of Pediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany.; Institute for Neurogenomics Helmholtz Zentrum München, Neuherberg, Germany.; Wortmann SB; University Children's Hospital, Paracelsus Medical School, Salzburg, Austria.; Amalias Children's Hospital, RadboudUMC, Nijmegen, the Netherlands.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, UK.; Brady AF; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park Hospital, Harrow, UK.; Stals KL; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Ismayilova N; Department of Paediatric Neurology, Chelsea and Westminster Hospital, London, UK.; Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, College of Medicine and Health, University of Exeter, Exeter, UK.; Bernardo D; University of California San Francisco, Clinical Neurology, San Francisco, CA, UK.; Nugent K; Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX, USA.; McLean SD; Department of Pediatrics, Baylor College of Medicine, The Children's Hospital of San Antonio, San Antonio, TX, USA.; Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.; Kinoshita T; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan.; Department of Immunoglycobiology, World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan.; Campeau PM; Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine and University of Montreal, Montreal, QC, Canada. p.campeau@umontreal.ca.; Murakami Y; Yabumoto Department of Intractable Disease Research, Research Institute for Microbial Diseases, Osaka University, Suita, Osaka, Japan. yoshiko@biken.osaka-u.ac.jp.; Department of Immunoglycobiology, World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan. yoshiko@biken.osaka-u.ac.jp.

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

Klöckner C; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Zacher P; The Saxon Epilepsy Center Kleinwachau, Radeberg, Germany.; Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Babcock HE; Rare Disease Institute, Children's National Hospital, Washington, DC, USA.; Bakker DP; Department of Child Neurology, Amsterdam University Medical Centers, Amsterdam, The Netherlands.; Barwick K; Institute of Child Health, University Collge London, London, UK.; Bonfert MV; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU - University Hospital, Ludwig-Maximilians-Universität, Munich, Germany.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Brilstra EH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY, USA.; Clarke AJ; Division of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK.; Devine P; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.; Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Fraser JL; Rare Disease Institute, Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Friedman J; Departments of Neurosciences and Pediatrics, University of California San Diego and Division of Neurology, Rady Children's Hospital, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Gates A; Department of Genetic Services, Kaiser Permanente Washington, Seattle, WA, USA.; Ghoumid J; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.; Hobson E; Yorkshire Clinical Genetics Service, Chapel Allerton Hospital, Leeds, UK.; Horvath G; Department of Pediatrics, Division of Biochemical Diseases, University of British Columbia, Vancouver, Canada.; Keller-Ramey J; GeneDx, Gaithersburg, MD, USA.; Keren B; APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France.; Kurian MA; Institute of Child Health, University Collge London, London, UK.; Lee V; Department of Neurology, University of California San Francisco, San Francisco, CA, USA.; Leppig KA; Department of Genetic Services, Kaiser Permanente Washington, Seattle, WA, USA.; Lundgren J; Institute of Clinical Sciences, Skane University Hospital, Lund, Sweden.; McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; McLaughlin HM; Invitae Corporation, San Francisco, CA, USA.; McTague A; Institute of Child Health, University Collge London, London, UK.; Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Mignot C; Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié Salpêtrière et Hôpital Trousseau, APHP, Sorbonne Université, Paris, France.; Mikati MA; Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Nava C; Sorbonne University, Paris Brain Institute, Inserm U1127, CNRS UMR 7225, AP-HP, Pitié Salpêtrière Hospital, Department of Genetics, Paris, France.; Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.; Sampson JR; Division of Cancer & Genetics, School of Medicine, Cardiff University, Wales, UK.; Sanchis-Juan A; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Cambridge, UK.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Shieh JTC; Division of Medical Genetics, University of California, San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA.; Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Slavotinek A; Division of Medical Genetics, University of California, San Francisco, San Francisco, CA, USA.; Stödberg T; Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.; Stong N; Institute for Genomic Medicine, Columbia University, New York, NY, USA.; Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.; Taylor AC; Section of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.; Toler TL; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.; van den Boogaard MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van der Crabben SN; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, 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.; Van Ziffle J; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.; Wadley AF; University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.; Wagner M; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany.; Wigby K; Department of Pediatrics, Division of Genetics, University of California, San Diego and Rady Children's Hospital-San Diego, San Diego, CA, USA.; Wortmann SB; Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands.; University Childrens Hospital, Paracelsus Medical University, Salzburg, Austria.; Zarate YA; Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, USA.; Møller RS; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre Filadelfia, Dianalund, Denmark.; Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany. konrad.platzer@medizin.uni-leipzig.de.

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

Ma L; Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USA.; Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; McLaughlin HM; GeneDx, Gaithersburg, MD, USA.; Cho MT; GeneDx, Gaithersburg, MD, USA.; Krokosky A; Walter Reed National Military Medical Center, Bethesda, MD, USA.; Turner CE; Walter Reed National Military Medical Center, Bethesda, MD, USA.; Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.; Bupp CP; Spectrum Health, Grand Rapids, MI, USA.; Mayberry K; Spectrum Health, Grand Rapids, MI, USA.; Mu W; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Bodurtha J; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Weinstein V; Division of Genetics and Metabolism, Children's National Medical Center, Washington, DC, USA.; Zadeh N; Genetics Center, Orange, CA, USA.; Alcaraz W; Ambry Genetics, Aliso Viejo, CA, USA.; Powis Z; Ambry Genetics, Aliso Viejo, CA, USA.; Shao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.; Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; White JJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Gulec EY; Medical Genetics Section, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey.; Lalani SR; 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.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Retterer K; GeneDx, Gaithersburg, MD, USA.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Wentzensen IM; GeneDx, Gaithersburg, MD, USA.; Bale S; GeneDx, Gaithersburg, MD, USA.; Chung WK; Department of Pediatrics, Columbia University Medical Center, 1150 St. Nicholas Avenue, New York, NY, 10032, USA. wkc15@columbia.edu.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Kuhn A; Department of Crop Genetics, John Innes Centre, Norwich Research Park, Norwich, United Kingdom.; Ramans Harborough S; Centre for Plant Sciences, Faculty of Biological Sciences, University of Leeds, Leeds, United Kingdom.; McLaughlin HM; Department of Crop Genetics, John Innes Centre, Norwich Research Park, Norwich, United Kingdom.; Natarajan B; Department of Crop Genetics, John Innes Centre, Norwich Research Park, Norwich, United Kingdom.; Verstraeten I; Institute of Science and Technology, Klosterneuburg, Austria.; Friml J; Institute of Science and Technology, Klosterneuburg, Austria.; Kepinski S; Centre for Plant Sciences, Faculty of Biological Sciences, University of Leeds, Leeds, United Kingdom.; Østergaard L; Department of Crop Genetics, John Innes Centre, Norwich Research Park, Norwich, United Kingdom.

Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE

Vassy JL; Division of General Internal Medicine and Primary Care, Boston, Mass., USA.; McLaughlin HM; MacRae CA; Seidman CE; Lautenbach D; Krier JB; Lane WJ; Kohane IS; Murray MF; McGuire AL; Rehm HL; Green RC

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101474167 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1662-8063 (Electronic) Linking ISSN: 16624246 NLM ISO Abbreviation: Public Health Genomics Subsets: MEDLINE

McLaughlin HM; Ceyhan-Birsoy O; Christensen KD; Kohane IS; Krier J; Lane WJ; Lautenbach D; Lebo MS; Machini K; MacRae CA; Azzariti DR; Murray MF; Seidman CE; Vassy JL; Green RC; Rehm HL

Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

McLaughlin, Heather M; Kelly, Melissa A; Hawley, Pamela P; Darras, Basil; Funke, Birgit; Picker, Jonathan

BMC Med Genet

Vester A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.; Velez-Ruiz G; McLaughlin HM; Lupski JR; Talbot K; Vance JM; Züchner S; Roda RH; Fischbeck KH; Biesecker LG; Nicholson G; Beg AA; Antonellis A

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

Lipscombe LL; Department of Medicine, Women's College Hospital, Toronto, Ontario, Canada. lorraine.lipscombe@wchospital.ca; McLaughlin HM; Wu W; Feig DS

Publisher: Informa Healthcare Country of Publication: England NLM ID: 101136916 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4954 (Electronic) Linking ISSN: 14764954 NLM ISO Abbreviation: J Matern Fetal Neonatal Med Subsets: MEDLINE