부산대학교 도서관

Hernan, Rebecca; Cho, Megan T.; Wilson, Ashley L.; Ahimaz, Priyanka; Au, Catherine; Berger, Sara M.; Guzman, Edwin; Primiano, Michelle; Shaw, Jessica E.; Ross, Meredith; Tabanfar, Leyla; Chilton, Ilana; Griffin, Emily; Ratner, Chana; Anyane-Yeboa, Kwame; Iglesias, Alejandro; Pisani, Laura; Roohi, Jasmin; Duong, Jimmy; Martinez, Josue; Appelbaum, Paul; Klitzman, Robert; Ottman, Ruth; Chung, Wendy K.; Wynn, Julia

In Patient Education and Counseling January 2020 103(1):127-135

Jaarsveld, R.H. van; Reilly, J.; Cornips, M.C.; Hadders, M.A.; Agolini, E.; Ahimaz, P.; Anyane-Yeboa, K.; Bellanger, S.A.; Binsbergen, E. van; Boogaard, M.J. van den; Brischoux-Boucher, E.; Caylor, R.C.; Ciolfi, A.; Essen, T.A. van; Fontana, P.; Hopman, S.; Iascone, M.; Javier, M.M.; Kamsteeg, E.J.; Kerkhof, J.; Kido, J.; Kim, H.G.; Kleefstra, T.; Lonardo, F.; Lai, A.; Lev, D.; Levy, M.A.; Lewis, M.E.S.; Lichty, A.; Mannens, M.M.; Matsumoto, N.; Maya, I.; McConkey, H.; Megarbane, A.; Michaud, V.; Miele, E.; Niceta, M.; Novelli, A.; Onesimo, R.; Pfundt, R.P.; Popp, B.; Prijoles, E.; Relator, R.; Redon, S.; Rots, D.; Rouault, K.; Saida, K.; Schieving, J.H.; Tartaglia, M.; Tenconi, R.; Uguen, K.; Verbeek, N.; Walsh, C.A.; Yosovich, K.; Yuskaitis, C.J.; Zampino, G.; Sadikovic, B.; Alders, M.; Oegema, R.

Genetics in Medicine; 49; 62; 1098-3600; 1; 25; ~Genetics in Medicine~49~62~~~1098-3600~1~25~~

Bosch, E.; Popp, B.; Güse, E.; Skinner, C.; Sluijs, P.J. van der; Maystadt, I.; Pinto, Ameet J.; Renieri, A.; Bruno, L.P.; Granata, S.; Marcelis, C.L.; Baysal, Ö.; Hartwich, D.; Holthöfer, L.; Isidor, B.; Cogne, B.; Wieczorek, D.; Capra, V.; Scala, M.; Marco, P. De; Ognibene, M.; Jamra, R.A.; Platzer, K.; Carter, L.B.; Kuismin, O.; Haeringen, A. van; Maroofian, R.; Valenzuela, I.; Cuscó, I.; Martinez-Agosto, J.A.; Rabani, A.M.; Mefford, H.C.; Pereira, E.M.; Close, C.; Anyane-Yeboa, K.; Wagner, M.; Hannibal, M.C.; Zacher, P.; Thiffault, I.; Beunders, G.; Umair, M.; Bhola, P.T.; McGinnis, E.; Millichap, J.; Kamp, J.M. van de; Prijoles, E.J.; Dobson, A.; Shillington, A.; Graham, B.H.; Garcia, E.J.; Galindo, M.K.; Ropers, F.G.; Nibbeling, E.A.; Hubbard, G.; Karimov, C.; Goj, G.; Bend, R.; Rath, J.; Morrow, M.M.; Millan, F.; Salpietro, V.; Torella, A.; Nigro, V.; Kurki, M.; Stevenson, R.E.; Santen, G.W.E.; Zweier, M.; Campeau, P.M.; Severino, M.; Reis, A.; Accogli, A.; Vasileiou, G.

Genetics in Medicine, 25, 11, pp. 100950

Bosch E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Popp B; Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Güse E; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Skinner C; Greenwood Genetic Center, Greenwood, SC.; van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Maystadt I; Center for Human Genetics, Institute of Pathology and Genetics, Gosselies, Belgium.; Pinto AM; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.; Renieri A; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy.; Bruno LP; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.; Granata S; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy; Medical Genetics Unit, University of Siena, Siena, Italy.; Marcelis C; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands.; Baysal Ö; Human Genetics department, Radboud university medical center, Nijmegen, The Netherlands.; Hartwich D; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany.; Holthöfer L; Institute of Human Genetics - University Medical Center of the Johannes Gutenberg University Mainz, Germany.; Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Cogne B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.; Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; De Marco P; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Ognibene M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital, Atrium Health, Charlotte, NC.; Kuismin O; Department of Clinical Genetics, Research Unit of Clinical Medicine, Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.; van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom.; Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Cuscó I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Barcelona, Spain; Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Martinez-Agosto JA; Departments of Human Genetics, Pediatrics, and Psychiatry, UCLA David Geffen School of Medicine, Los Angeles, CA.; Rabani AM; Department of Pediatrics & Institute for Precision Health, UCLA David Geffen School of Medicine, Los Angeles, CA.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN.; Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.; Close C; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.; Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY.; Wagner M; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI.; Hannibal MC; Division of Pediatric Genetics, Metabolism, and Genomic Medicine, Department of Pediatrics, University of Michigan Health System, University of Michigan, Ann Arbor, MI.; Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany.; Thiffault I; Department of Pediatrics and Pathology, Genomic Medicine Center, Children's Mercy Kansas City and Children's Mercy Research Institute, Kansas City, MO.; Beunders G; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands.; Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.; Bhola PT; Department of Genetics, Children's Hospital of Eastern Ontario (CHEO), Ottawa, Canada.; McGinnis E; Division of Neurology, Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.; Millichap J; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; van de Kamp JM; Department of Human Genetics, Amsterdam UMC, location VU Medical Center, Amsterdam, The Netherlands.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC.; Dobson A; Greenwood Genetic Center, Greenwood, SC.; Shillington A; Department of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.; Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.; Garcia EJ; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.; Galindo MK; Department of Pediatrics, University of Arizona, Tucson, AZ.; Ropers FG; Willem-Alexander Children's Hospital, Department of Pediatrics, Leiden University Medical Center, The Netherlands.; Nibbeling EAR; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Hubbard G; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA.; Karimov C; Department of Medical Genetics, Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA.; Goj G; Vestische Kinder- und Jugendklinik, Datteln, Germany.; Bend R; PreventionGenetics, Part of Exact Sciences, Marshfield, WI.; Rath J; PreventionGenetics, Part of Exact Sciences, Marshfield, WI.; Morrow MM; GeneDx, Gaithersburg, MD.; Millan F; GeneDx, Gaithersburg, MD.; Salpietro V; Department of Neuromuscular Disorders, Queen Square Institute of Neurology, University College London, London, United Kingdom; Department of Biotechnological and Applied Clinical Sciences, University of L'Aquila, L'Aquila, Italy.; Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Kurki M; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Zweier M; Institute of Medical Genetics, University of Zürich, Schlieren-Zurich, Switzerland.; Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, QC, Canada.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany.; Accogli A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Centre; Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, QC, Canada.; Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany. Electronic address: georgia.vasileiou@uk-erlangen.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

Kaur M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Blair J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Devkota B; Illumina Inc, San Diego, California, USA.; Fortunato S; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Clark D; Natera, Inc., Austin, Texas, USA.; Lawrence A; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Kim J; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Do W; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Semeo B; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Katz O; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Mehta D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Yamamoto N; Division of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan.; Schindler E; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Al Rawi Z; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Wallace N; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Wilde JJ; Emugen Therapeutics, Woburn, Massachusetts, USA.; McCallum J; Department of Cancer Biology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Liu J; Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.; Xu D; Hematologics Inc, Seattle, Washington, USA.; Jackson M; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Rentas S; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.; Tayoun AA; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Zhe Z; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.; Allen B; Fullerton Genetics Center, Mission Health, Asheville, North Carolina, USA.; Angula MA; Department of Pediatrics, NYU Langone Hospital-Long Island, Mineola, New York, USA.; Anyane-Yeboa K; Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Argente J; Hospital Infantil Universitario Niño Jesús & Universidad Autónoma de Madrid, Madrid, Spain.; CIBER Fisiopatología de la obesidad y nutrición (CIBEROBN) and IMDEA Food Institute, Madrid, Spain.; Arn PH; Department of Pediatrics, Nemours Children's Specialty Care, Jacksonville, Florida, USA.; Armstrong L; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada.; Basel-Salmon L; Rabin Medical Center-Beilinson Hospital, Raphael Recanati Genetics Institute, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Felsenstein Medical Research Center, Petach Tikva, Israel.; Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Pediatrics and Telethon Kids Institute, University of Western Australia, Perth, Western Australia, Australia.; Rare Care Centre, Perth Children's Hospital, Perth, Western Australia, Australia.; Bird LM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics & Dysmophology, Rady Children's Hospital San Diego, San Diego, California, USA.; Bruegger D; Department of Otolaryngology-Head and Neck Surgery, University of Kansas School of Medicine, Kansas City, Kansas, USA.; Ch'ng GS; Department of Genetics, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for SickKids, University of Toronto, Toronto, Ontario, Canada.; Clark R; Department of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California, USA.; Cox GF; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Dave U; R & D MILS International India, Mumbai, India.; DeBaere E; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Field M; Genetics of Learning Disability Service, Hunter Genetics, Waratah, New South Wales, Australia.; Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, California, USA.; Gripp KW; Nemours Children's Health, Wilmington, Delaware, USA.; Greenstein R; University of Connecticut Health Center, Farmington, Connecticut, USA.; Gupta N; Division of Genetics, Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India.; Heidenreich R; Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA.; Hoffman J; Department of Pediatrics, Boston University School of Medicine, Boston, Massachusetts, USA.; Hopkin RJ; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and Department of Pediatrics University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.; Jones KL; Division of Dysmorphology & Teratology, Department of Pediatrics, University of California San Diego School of Medicine, San Diego, California, USA.; Jones MC; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics & Dysmophology, Rady Children's Hospital San Diego, San Diego, California, USA.; Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.; Kogan J; Division of Genetics, Advocate Children's Hospital, Park Ridge, Illinois, USA.; Lace B; Children's Clinical University Hospital, Riga, Latvia.; Leroy J; Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.; Lynch SA; Department of Clinical Genetics, Children's Health Ireland, Dublin, Ireland.; McDonald M; Duke University Medical Center, Durham, North Carolina, USA.; Meagher K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Mendelsohn N; Complex Health Solutions, United Healthcare, Minneapolis, Minnesota, USA.; Micule I; Children's Clinical University Hospital, Riga, Latvia.; Moeschler J; Department of Pediatrics, Geisel School of Medicine, Dartmouth College, Hanover, New Hampshire, USA.; Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India.; Ohashi K; Department of Medical Genetics, BC Women's Hospital, Vancouver, British Columbia, Canada.; Powell CM; Division of Genetics and Metabolism, Department of Pediatrics, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA.; Ramanathan S; Department of Pediatrics, Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California, USA.; Raskin S; Genetika-Centro de aconselhamento e laboratório de genética, Curitiba, Brazil.; Roeder E; Department of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, San Antonio, Texas, USA.; Rio M; Department of Genetics, Hôpital Necker-Enfants Malades, Paris, France.; Rope AF; Genome Medical, South San Francisco, California, USA.; Sangha K; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Scheuerle AE; Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.; Schneider A; Department of Pediatrics and Oculogenetics, Wills Eye Hospital, Philadelphia, Pennsylvania, USA.; Shalev S; Rappaport Faculty of Medicine, Technion, The Genetics Institute, Emek Medical Center, Afula, Haifa, Israel.; Siu V; London Health Sciences Centre, London, Ontario, Canada.; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.; Smith R; Division of Genetics, Department of Pediatrics, Maine Medical Center, Portland, Maine, USA.; Stevens C; Department of Pediatrics, University of Tennessee College of Medicine, T.C. Thompson Children's Hospital, Chattanooga, Tennessee, USA.; Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Toimie J; Clinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Glasgow, UK.; Toriello H; Department of Pediatrics and Human Development, Michigan State University, East Lansing, Michigan, USA.; Turner A; Centre for Clinical Genetics, Sydney Children's Hospital, Randwick, New South Wales, Australia.; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.; Wheeler PG; Division of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Australia.; Young T; Department of Ophthalmology and Visual Sciences, University of Wisconsin-Madison, Madison, Wisconsin, USA.; Research to Prevent Blindness Inc, New York, New York, USA.; Loomes KM; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Pipan M; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Behavioral Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Harrington AT; Center for Rehabilitation, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Zackai E; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Rajagopalan R; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Conlin L; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Deardorff MA; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Department of Pediatrics, Children's Hospital Los Angeles, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; McEldrew D; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Pie J; Laboratorio de Genética Clínica y Genómica Funcional, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain.; Ramos F; Unidad de Genética Clínica, Servicio de Pediatría, Hospital Clínico Universitario 'Lozano Blesa', Zaragoza, Spain.; Departamento de Pediatría, Facultad de Medicina, Universidad de Zaragoza, Zaragoza, Spain.; Musio A; Istituto di Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, Pisa.; Kline AD; Greater Baltimore Medical Centre, Harvey Institute of Human Genetics, Baltimore, Maryland, USA.; Izumi K; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Raible SE; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Krantz ID; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, 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

Alves, C. A. P. F.; Sherbini, O.; D'Arco, F.; Steel, D.; Kurian, M. A.; Radio, F. C.; Ferrero, G. B.; Carli, D.; Tartaglia, M.; Balci, T. B.; Powell-Hamilton, N. N.; Vergano, S. A. Schrier; Reutter, H.; Hoefele, J.; Gunthner, R.; Roeder, E. R.; Littlejohn, R. O.; Lessel, D.; Luttgen, S.; Kentros, C.; Anyane-Yeboa, K.; Catarino, C. B.; Mercimek-Andrews, S.; Denecke, J.; Lyons, M. J.; Klopstock, T.; Bhoj, E. J.; Bryant, L.; Vanderver, A.

AMERICAN JOURNAL OF NEURORADIOLOGY; JUN 30 2022, 6p.

Kumble, S; Levy, AM; Punetha, J; Gao, H; Ah Mew, N; Anyane-Yeboa, K; Benke, PJ; Berger, SM; Bjerglund, L; Campos-Xavier, B; Ciliberto, M; Cohen, JS; Comi, AM; Curry, C; Damaj, L; Denomme-Pichon, A-S; Emrick, L; Faivre, L; Fasano, MB; Fievet, A; Finkel, RS; Garcia-Minaur, S; Gerard, A; Gomez-Puertas, P; Guillen Sacoto, MJ; Hoffman, TL; Howard, L; Iglesias, AD; Izumi, K; Larson, A; Leiber, A; Lozano, R; Marcos-Alcalde, I; Mintz, CS; Mullegama, SV; Moller, RS; Odent, S; Oppermann, H; Ostergaard, E; Pacio-Miguez, M; Palomares-Bralo, M; Parikh, S; Paulson, AM; Platzer, K; Posey, JE; Potocki, L; Revah-Politi, A; Rio, M; Ritter, AL; Robinson, S; Rosenfeld, JA; Santos-Simarro, F; Sousa, SB; Weber, M; Xie, Y; Chung, WK; Brown, NJ; Tumer, Z

McGee SR; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA.; Rajamanickam S; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA.; Adhikari S; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA.; Falayi OC; Wilson TA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.; Shayota BJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.; Department of Pediatrics, Division of Genetics, University of Utah, Salt Lake City, UT.; Cooley Coleman JA; Greenwood Genetic Center, Greenwood, SC, USA.; Skinner C; Greenwood Genetic Center, Greenwood, SC, USA.; Caylor RC; Greenwood Genetic Center, Greenwood, SC, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA.; Quaio CRAC; Instituto da Criança (Children's Hospital), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina (FMUSP), Universidade de São Paulo, São Paulo, SP, Brazil.; Laboratório Clínico, Hospital Israelita Albert Einstein, São Paulo, SP, Brazil.; Wilke BC; Unicamp, Campinas, SP, Brazil.; Bain JM; Department of Neurology, Division of Child Neurology, Columbia University Irving Medical Center, New York, USA.; Anyane-Yeboa K; Department of Pediatrics, Division of Clinical Genetics, Columbia University Irving Medical Center, New York, USA.; Brown K; Departments of Pediatrics and Genetics, Albert Einstein College of Medicine, Bronx, NY USA.; Greally JM; Departments of Pediatrics and Genetics, Albert Einstein College of Medicine, Bronx, NY USA.; Departments of Genetics, Albert Einstein College of Medicine, Bronx, NY USA.; Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, PO box 9600, 2300 RC, Leiden, The Netherlands.; Ruivenkamp CAL; Department of Clinical Genetics, Leiden University Medical Centre, PO box 9600, 2300 RC, Leiden, The Netherlands.; Politi K; ALYN Hospital, Jerusalem, Israel.; Arbogast LA; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA.; Collard MW; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA.; Huggenvik JI; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA.; Elsea SH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, USA.; Jensik PJ; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL USA.

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Cornips MC; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Hadders MA; Oncode Institute and Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy.; Ahimaz P; Division of Clinical Genetics, Department of Pediatrics, Columbia University, New York, NY.; Anyane-Yeboa K; Division of Clinical Genetics, Department of Pediatrics, Columbia University, New York, NY.; Bellanger SA; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; van den Boogaard MJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France.; Caylor RC; Greenwood Genetic Center, Greenwood, SC.; Ciolfi A; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; van Essen TAJ; Department of Medical Genetics, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.; Fontana P; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.; Hopman S; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Iascone M; Laboratorio di Genetica Medica - ASST Papa Giovanni XXIII, Bergamo, Italy.; Javier MM; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Kido J; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.; Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.; Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Lonardo F; Medical Genetics Unit, A.O.R.N. San Pio, Benevento, Italy.; Lai A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program and Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Lev D; The Rina Mor Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Lewis MES; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, British Columbia, Canada.; Lichty A; Greenwood Genetic Center, Greenwood, SC.; Mannens MMAM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Maya I; The Raphael Recanati Genetic Institute, Rabin Medical Center, Beilinson Hospital, Petach-Tikva, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; McConkey H; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon; Institut Jérôme Lejeune, Paris, France.; Michaud V; Department of Medical Genetics, CHU Bordeaux, Bordeaux, France.; Miele E; Department of Pediatric Hematology and Oncology and Cellular and Gene Therapy, Bambino Gesù Children's Hospital, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS), Rome, Italy.; Niceta M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, 00165 Rome, Italy.; Onesimo R; Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany; Center of Functional Genomics, Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Prijoles E; Greenwood Genetic Center, Greenwood, SC.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Redon S; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Rouault K; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Schieving J; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.; Tartaglia M; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Tenconi R; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padova, Italy.; Uguen K; Service de Génétique Médicale et de Biologie de la Reproduction, Centre Hospitalier Regional Universitaire Brest, Brest, France.; Verbeek N; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Walsh CA; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA.; Yosovich K; Molecular Genetic Laboratory, Edith Wolfson Medical Center, Holon, Israel.; Yuskaitis CJ; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Zampino G; Center for Rare Diseases and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Faculty of Medicine and Surgery, Catholic University of Sacred Heart, Rome, Italy.; Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada. Electronic address: sadikovic@lhsc.on.ca.; Alders M; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands. Electronic address: m.alders@amsterdamumc.nl.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address: r.oegema@umcutrecht.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

Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.; Manchester Centre for Genomic Medicine, University of Manchester, St Mary's Hospital, Manchester Academic Health Science Centre, Manchester M13 9WL, UK.; Bennington A; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.; Baker MJ; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Cell Signalling Group, Cancer Research UK Manchester Institute, The University of Manchester, Alderley Park, Macclesfield SK10 4TG, UK.; Rijckmans E; Department of Pediatrics, UZ Brussel, Brussels, Belgium.; Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.; Clemente GD; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.; School of Biochemistry, University of Bristol, Bristol BS8 1TD, UK.; Ansor NM; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.; Advanced Medical and Dental Institute, Universiti Sains Malaysia, 13200 Kepala Batas, Penang, Malaysia.; Sito H; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.; Prasad P; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.; Anyane-Yeboa K; Division of Clinical Genetics, Columbia University Medical Center, New York 10032, USA.; Badalato L; Department of Pediatrics, School of Medicine, Kingston General Hospital, Queen's University, Kingston, ON, Canada.; Dimitrov B; Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.; Fitzpatrick D; MRC Human Genetics Unit, IGMM, University of Edinburgh, Edinburgh, UK.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Jansen AC; Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Brussels, Belgium.; Kelly MA; HudsonAlpha Clinical Services Lab, Huntsville, AL, USA.; Krantz I; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Rieubland C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Ross M; Division of Clinical Genetics, Columbia University Medical Center, New York 10032, USA.; Rudy NL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Sanz J; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Stouffs K; Neurogenetics Research Group, Vrije Universiteit Brussel, Brussels, Belgium.; Centre for Medical Genetics, UZ Brussel, Brussels, Belgium.; Xu ZL; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Malliri A; Cell Signalling Group, Cancer Research UK Manchester Institute, The University of Manchester, Alderley Park, Macclesfield SK10 4TG, UK.; Kazanietz MG; Department of Systems Pharmacology and Translational Therapeutics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Millard TH; Division of Developmental Biology and Medicine, Faculty of Biology, Medicine and Health, University of Manchester M13 9PL, UK.

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