부산대학교 도서관

Gehin C; Lone MA; Lee W; Capolupo L; Ho S; Adeyemi AM; Gerkes EH; Stegmann AP; López-Martín E; Bermejo-Sánchez E; Martínez-Delgado B; Zweier C; Kraus C; Popp B; Strehlow V; Gräfe D; Knerr I; Jones ER; Zamuner S; Abriata LA; Kunnathully V; Moeller BE; Vocat A; Rommelaere S; Bocquete JP; Ruchti E; Limoni G; Van Campenhoudt M; Bourgeat S; Henklein P; Gilissen C; van Bon BW; Pfundt R; Willemsen MH; Schieving JH; Leonardi E; Soli F; Murgia A; Guo H; Zhang Q; Xia K; Fagerberg CR; Beier CP; Larsen MJ; Valenzuela I; Fernández-Álvarez P; Xiong S; Śmigiel R; López-González V; Armengol L; Morleo M; Selicorni A; Torella A; Blyth M; Cooper NS; Wilson V; Oegema R; Herenger Y; Garde A; Bruel AL; Tran Mau-Them F; Maddocks AB; Bain JM; Bhat MA; Costain G; Kannu P; Marwaha A; Champaigne NL; Friez MJ; Richardson EB; Gowda VK; Srinivasan VM; Gupta Y; Lim TY; Sanna-Cherchi S; Lemaitre B; Yamaji T; Hanada K; Burke JE; Jakšić AM; McCabe BD; De Los Rios P; Hornemann T; D'Angelo G; Gennarino VA

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE; In Process

Cooley Coleman JA; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Moffitt BA; School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC, 29634, USA.; Bridges WC; School of Mathematical and Statistical Sciences, Clemson University, Clemson, SC, 29634, USA.; Jones K; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; May M; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Skinner C; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Schwartz CE; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Boccuto L; Greenwood Genetic Center, Greenwood, SC, 29646, USA. lboccut@clemson.edu.; School of Nursing, College of Behavioral, Social and Health Sciences, Clemson University, Clemson, SC, 29634, USA. lboccut@clemson.edu.

Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7365 (Electronic) Linking ISSN: 08857490 NLM ISO Abbreviation: Metab Brain Dis Subsets: MEDLINE

Merritt JK; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Fang X; Department of Pathology, Henry Ford Health System, Detroit, MI 48202, USA.; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Caylor RC; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Percy AK; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.; Neul JL; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA.; Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN 37232, USA.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Sahajpal NS; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Dean J; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Hilton B; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Fee T; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Skinner C; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Hastie A; Bionano Genomics, San Diego, California 92121, USA.; DuPont BR; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Chaubey A; Bionano Genomics, San Diego, California 92121, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA; 1974rest@gmail.com.; Equanimitas, Greenwood, South Carolina 29646, USA.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

Schwartz CE; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Toutain A; Department of Medical Genetics, Centre Hospitalier Universitaire, Tours, France.; Skinner C; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Stevenson RE; 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

Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Pranckeviciene E; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Barat-Houari M; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.; Bargiacchi S; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; Biamino E; Department of Pediatrics, University of Turin, Turin, Italy.; Palomares Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Cappuccio G; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Clarke A; Cardiff University School of Medicine, Cardiff, UK.; DuPont BR; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Elting MW; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Faivre L; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Fee T; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Ferilli M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Fletcher RS; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Cherick F; Genetic Medical Center, CHU Clermont Ferrand, France.; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France.; Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Gervasini C; Division of Medical Genetics, Department of Health Sciences, Università degli Studi di Milano, Milan, Italy.; Haghshenas S; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Hilton BA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Jenkins Z; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Kaur S; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Lewis S; BC Children's and Women's Hospital and Department of Medical Genetics, Faculty of Medicine, University of British Columbia.; Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Maitz S; Clinical Pediatric Genetics Unit, Pediatrics Clinics, MBBM Foundation, Hospital San Gerardo, Monza, Italy.; Milani D; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Morgan AT; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Pallares NR; Autoinflammatory and Rare Diseases Unit, Medical Genetic Department for Rare Diseases and Personalized Medicine, CHU Montpellier, Montpellier, France.; Piccione M; Medical Genetics Unit Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy.; Plomp AS; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Poulton C; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Robertson S; Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Rooney K; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.; Rousseau J; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.; Santen GWE; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; Santos-Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.; Schijns J; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Squeo GM; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; John MS; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Thauvin-Robinet C; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Centre de Référence Maladies Rares, Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Hôpital D'Enfants, CHU Dijon Bourgogne, Dijon, France.; Traficante G; Medical Genetics Unit, 'A. Meyer' Children Hospital of Florence, Florence, Italy.; van der Sluijs PJ; Department of Clinical Genetics, LUMC, Leiden, The Netherlands.; Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Vos N; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Walden KK; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Azmanov D; Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Perth, Australia.; Balci TB; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada.; Banka S; Division of Evolution, Infection & Genomics, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom.; Gecz J; School of Medicine, Robinson Research Institute, University of Adelaide, Adelaide, Australia.; South Australian Health and Medical Research Institute, Adelaide, Australia.; Henneman P; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Lee JA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Mannens MMAM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Roscioli T; Neuroscience Research Australia (NeuRA), Sydney, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, Australia.; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia.; Siu V; Department of Pediatrics, Division of Medical Genetics, Western University, London, Ontario, Canada.; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre and Children's Health Research Institute, London, Ontario, Canada.; Amor DJ; Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Baynam G; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Undiagnosed Diseases Program, Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, Australia.; Division of Paediatrics and Telethon Kids Institute, Faculty of Health and Medical Sciences, Perth, Australia.; Bend EG; PreventionGenetics, Marshfield, Wisconsin, USA.; Boycott K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Brunetti-Pierri N; Department of Translational Medicine, Federico II University of Naples, Naples, Italy.; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Campeau PM; CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.; Campion D; INSERM U1245, Faculté de Médecine, Rouen, France.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children s Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Dyment D; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Esber N; KAT6A Foundation, New York, New York, USA.; Fahrner JA; Departments of Genetic Medicine and Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA.; Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.; Genevieve D; Montpellier University, Reference Center for Rare Disease, Medical Genetic Department for Rare Disease and Personalize Medicine, CHU Montpellier, Montpellier, France.; Heron D; AP-HP, Département de Génétique Médicale, Groupe Hospitalier Pitié Salpétrière, Paris, France.; Husson T; Department of Genetics and Reference Center for Developmental Disorders, Normandie Université, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.; McNeill A; Department of Neuroscience, University of Sheffield, UK, and Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.; Menke LA; Department of Pediatrics, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.; Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Prontera P; Medical Genetics Unit, University of Perugia Hospital SM della Misericordia, Perugia, Italy.; Rockman-Greenberg C; Department of Pediatrics and Child Health, Rady Faculty of Health Sciences, University of Manitoba and Program in Genetics and Metabolism, Shared Health MB, Winnipeg, Manitoba, Canada.; Schwartz C; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Vincent M; Service de génétique Médicale, CHU Nantes, Nantes, France.; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France.; Vitobello A; INSERM-Université de Bourgogne UMR1231 GAD, Génétique Des Anomalies du Développement, FHU-TRANSLAD, UFR Des Sciences de Santé, Dijon, France.; Unité Fonctionnelle d'Innovation Diagnostique des Maladies Rares, FHU-TRANSLAD, France Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon Bourgogne, CHU Dijon Bourgogne, Dijon, France.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.; Alders M; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Tedder ML; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, Ontario, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, Ontario, Canada.

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

Cooley Coleman JA; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Fee T; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Bend R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; PreventionGenetics LLC, Marshfield, Wisconsin, USA.; Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Annese F; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Stallworth J; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Sanofi, Bridgewater, New Jersey, USA.; Worthington J; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Buchanan CB; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Everman DB; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Skinner S; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Jones JR; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Spellicy CJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Myriad Genetics, Salt Lake City, Utah, 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

Basel-Vanagaite, L.; Straussberg, R.; Friez, MJ; Inbar, D.; Korenreich, L.; Shohat, M.; Schwartz, CE

Clinical Genetics. May, 2006, Vol. 69 Issue 5, p414, 6 p.

Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Rastin C; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Demain L; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Dominguez-Garrido E; Rioja Health Foundation, La Rioja, Spain.; Kaat LD; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; Houge SD; Haukeland University Hospital, Centre for Medical Genetics and Molecular Medicine, Bergen, Norway.; DuPont BR; Greenwood Genetic Center, Greenwood, SC.; Fee T; Greenwood Genetic Center, Greenwood, SC.; Fletcher RS; Greenwood Genetic Center, Greenwood, SC.; Gokhale D; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Haukanes BI; Haukeland University Hospital, Centre for Medical Genetics and Molecular Medicine, Bergen, Norway.; Henneman P; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Hilton S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Hilton BA; Greenwood Genetic Center, Greenwood, SC.; Jenkinson S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Lee JA; Greenwood Genetic Center, Greenwood, SC.; Louie RJ; Greenwood Genetic Center, Greenwood, SC.; Motazacker MM; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Rzasa J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC.; Plomp A; Department of Clinical Genetics, AMC, Amsterdam, The Netherlands.; van der Laan L; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; van der Smagt J; Department of Genetics, Utrecht University Medical Center, Utrecht, The Netherlands.; Walden KK; Greenwood Genetic Center, Greenwood, SC.; Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.; Mannens M; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Skinner SA; Greenwood Genetic Center, Greenwood, SC.; Friez MJ; Greenwood Genetic Center, Greenwood, SC.; Campbell C; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, United Kingdom.; Tedder ML; Greenwood Genetic Center, Greenwood, SC.; Alders M; Amsterdam University Medical Center, University of Amsterdam, Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca.

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

Wang J; Greenwood Genetic Center, Greenwood, SC, USA.; Foroutan A; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Richardson E; Greenwood Genetic Center, Greenwood, SC, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA.; Reilly J; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Curry CJ; Genetic Medicine, University of California, San Francisco/Fresno, Fresno, CA, USA.; Tarpey PS; Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.; Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.; Maystadt I; Centre de Génétique Humaine, Institute de Pathologie et de Génétique, Gosselies, BE, Charleroi, Belgium.; Keren B; Genetic Department, La Pitie-Salpetriere Hospital, APHP.Sorbonne Universite, Paris, France.; Dixon JW; Genetic Health Services New Zealand, Christchurch Hospital, Christchurch, New Zealand.; Skinner C; Greenwood Genetic Center, Greenwood, SC, USA.; Stapleton R; Genetic Health Services New Zealand, Christchurch Hospital, Christchurch, New Zealand.; Ruaud L; Department of Genetics, APHP.Nord, Robert Debré Hospital, Paris, FR and University of Paris, UMR 1141NEURODIDEROT, INSERM, Paris, France.; Gumus E; Medical Genetics Department, Mugla Sitki Kocman University, Mugla, Turkey.; Lakeman P; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.; Alders M; Department of Clinical Genetics, Amsterdam University Medical Center, Amsterdam, Netherlands.; Tedder ML; Greenwood Genetic Center, Greenwood, SC, USA.; Schwartz CE; Greenwood Genetic Center, Greenwood, SC, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA.; Sadikovic B; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA. res@ggc.org.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

Gehin C; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Lone MA; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.; Lee W; Department of Genetics and Development and.; Department Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA.; Capolupo L; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Ho S; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Adeyemi AM; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada.; Gerkes EH; University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, Netherlands.; Stegmann AP; Department of Clinical Genetics and School for Oncology and Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands.; López-Martín E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.; Bermejo-Sánchez E; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.; Martínez-Delgado B; Institute of Rare Diseases Research (IIER), Instituto de Salud Carlos III, Madrid, Spain.; Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland.; Kraus C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Center of Functional Genomics, Berlin, Germany.; Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Gräfe D; Department of Pediatric Radiology, University Hospital Leipzig, Leipzig, Leipzig, Germany.; Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland (CHI) at Temple Street, Dublin, Ireland.; UCD School of Medicine, Dublin, Ireland.; Jones ER; Genuity Science, Cherrywood Business Park, Dublin, Ireland.; Zamuner S; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland.; Abriata LA; Laboratory for Biomolecular Modeling and Protein Purification and Structure Facility, EPFL and Swiss Institute of Bioinformatics, Lausanne Switzerland.; Kunnathully V; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.; Moeller BE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.; Vocat A; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Rommelaere S; Global Health Institute, School of Life Sciences and.; Bocquete JP; Global Health Institute, School of Life Sciences and.; Ruchti E; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.; Limoni G; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.; Van Campenhoudt M; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.; Bourgeat S; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.; Henklein P; Berlin Institute of Health, Institut für Biochemie, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.; Gilissen C; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.; van Bon BW; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Pfundt R; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.; Willemsen MH; Radboud University Medical Center, Department of Human Genetics, Nijmegen, Netherlands.; Schieving JH; Radboud University Medical Center, Department of Pediatric Neurology, Amalia Children's Hospital and Donders Institute for Brain, Cognition and Behavior, Nijmegen, Netherlands.; Leonardi E; Molecular Genetics of Neurodevelopment, Department of Woman and Child Health, University of Padova, Padova, Italy.; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.; Soli F; Medical Genetics Department, APSS Trento, Trento, Italy.; Murgia A; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, Padova, Italy.; Guo H; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Zhang Q; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Xia K; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Fagerberg CR; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Beier CP; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Larsen MJ; Department of Neurology, Odense University Hospital, and Department of Clinical Research, University of Southern Denmark, Odense, Denmark.; Valenzuela I; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Fernández-Álvarez P; Department of Clinical and Molecular Genetics, University Hospital Vall d'Hebron, Medicine Genetics Group, Valle Hebron Research Institute, Barcelona, Spain.; Xiong S; Fetal Medicine Unit and Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University School of Medicine, Shanghai, China.; Śmigiel R; Department of Family and Pediatric Nursing, Medical University, Wroclaw, Poland.; López-González V; Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, CIBERER-ISCIII, Murcia, Spain.; Armengol L; Quantitative Genomic Medicine Laboratories, S.L., CSO & CEO, Esplugues del Llobregat, Barcelona, Catalunya, Spain.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Selicorni A; Department of Pediatrics, ASST Lariana Sant' Anna Hospital, San Fermo Della Battaglia, Como, Italy.; Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Blyth M; North of Scotland Regional Genetics Service, Clinical Genetics Centre, Ashgrove House, Foresterhill, Aberdeen, United Kingdom.; Cooper NS; W Midlands Clinical Genetics Service, Birmingham Women's Hospital, Edgbaston Birmingham, United Kingdom.; Wilson V; Northern Regional Genetics Laboratory, Newcastle upon Tyne, United Kingdom.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.; Herenger Y; Genetica AG, Humangenetisches Labor und Beratungsstelle, Zürich, Switzerland.; Garde A; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Bruel AL; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Tran Mau-Them F; UMR1231 GAD, INSERM - Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Maddocks AB; Department of Radiology at Columbia University Irving Medical Center, New York, New York, USA.; Bain JM; Department of Neurology, Columbia University Irving Medical Center, New York Presbyterian Hospital, Columbia University Medical Center, New York, New York, USA.; Bhat MA; Institute of Pharmacology and Toxicology University of Zürich, Zürich, Switzerland.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.; Kannu P; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.; Marwaha A; Department of Medical Genetics, Cumming School of Medicine, The University of Calgary, Calgary, Alberta, Canada.; Champaigne NL; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA.; Friez MJ; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA.; Richardson EB; Greenwood Genetic Center and the Medical University of South Carolina, Greenwood, South Carolina, USA.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India.; Gupta Y; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA.; Lim TY; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA.; Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, New York, New York, USA.; Lemaitre B; Global Health Institute, School of Life Sciences and.; Yamaji T; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan.; Hanada K; Department of Biochemistry and Cell Biology, National Institute of Infectious Diseases, Tokyo, Japan.; Burke JE; Department of Biochemistry and Microbiology, University of Victoria, Victoria, Canada.; Department of Biochemistry and Molecular Biology, The University of British Columbia, Vancouver, British Columbia, Canada.; Jakšić AM; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.; McCabe BD; Brain Mind Institute, School of Life Sciences, EPFL, Lausanne, Switzerland.; De Los Rios P; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Physics, School of Basic Sciences, École Polytechnique Féderale de Lausanne (EPFL), Lausanne, Switzerland.; Hornemann T; Institute of Clinical Chemistry, University Hospital Zurich, University of Zurich, Zurich, Switzerland.; D'Angelo G; Institute of Bioengineering (IBI), École Polytechnique Fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Institute of Biochemistry and Cell Biology, National Research Council, Naples, Italy.; Global Health Institute, School of Life Sciences and.; Gennarino VA; Department of Genetics and Development and.; Department of Pediatrics.; Department of Neurology.; Columbia Stem Cell Initiative, and.; Initiative for Columbia Ataxia and Tremor, Columbia University Irving Medical Center, New York, New York, USA.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Skinner C; Greenwood Genetic Center, Greenwood, SC, USA.; Pauly R; Greenwood Genetic Center, Greenwood, SC, USA.; Skinner SA; Greenwood Genetic Center, Greenwood, SC, USA.; Schroer RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Simensen RJ; Greenwood Genetic Center, Greenwood, SC, USA.; Taylor HA; Greenwood Genetic Center, Greenwood, SC, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, SC, USA.; DuPont BR; Greenwood Genetic Center, Greenwood, SC, USA.; Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA. res@ggc.org.; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, 113 Gregor Mendel Circle, Greenwood, SC, 29646, USA. res@ggc.org.

Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print Cited Medium: Internet ISSN: 1573-3432 (Electronic) Linking ISSN: 01623257 NLM ISO Abbreviation: J Autism Dev Disord Subsets: MEDLINE

Louie RJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Collins DL; University of Kansas Cancer Center, Westwood, Kansas, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Skinner C; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Schwartz CE; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Stevenson RE; 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

Louie RJ; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.; Friez MJ; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.; Skinner C; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.; Baraitser M; Department of Clinical Genetics, Hospital for Sick Children, London, UK.; Clark RD; Division of Medical Genetics, Loma Linda University School of Medicine, Loma Linda, California.; Schwartz CE; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.; Stevenson RE; J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina.

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

Latham SL; Institute for Biophysical Chemistry, Hannover Medical School, 30625, Hannover, Germany. Latham.Sharissa@mh-hannover.de.; Ehmke N; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353, Berlin, Germany.; Berlin Institute of Health, 10117, Berlin, Germany.; Reinke PYA; Institute for Biophysical Chemistry, Hannover Medical School, 30625, Hannover, Germany.; Division for Structural Biochemistry, Hannover Medical School, 30625, Hannover, Germany.; Taft MH; Institute for Biophysical Chemistry, Hannover Medical School, 30625, Hannover, Germany.; Eicke D; Institute for Transfusion Medicine, Hannover Medical School, 30625, Hannover, Germany.; Reindl T; Institute for Biophysical Chemistry, Hannover Medical School, 30625, Hannover, Germany.; Stenzel W; Department of Neuropathology, Charité-Universitätsmedizin Berlin, 10117, Berlin, Germany.; Lyons MJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Lee JA; Greenwood Genetic Center, Greenwood, SC, 29646, USA.; Hecker R; Institute for Clinical Chemistry and Laboratory Medicine, Medical Faculty of TU Dresden, 01307, Dresden, Germany.; Frühwald MC; Swabian Children's Cancer Center, Children's Hospital Augsburg, 86156, Augsburg, Germany.; Becker K; Medical Genetics Center, 80335, Munich, Germany.; Neuhann TM; Medical Genetics Center, 80335, Munich, Germany.; Horn D; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, 13353, Berlin, Germany.; Schrock E; Institute for Clinical Genetics, TU Dresden, 01307, Dresden, Germany.; Niehaus I; Institute for Clinical Genetics, TU Dresden, 01307, Dresden, Germany.; Sarnow K; Institute for Clinical Genetics, TU Dresden, 01307, Dresden, Germany.; Grützmann K; Core Unit for Molecular Tumor Diagnostics, National Center for Tumor Diseases Dresden, 01307, Dresden, Germany.; Gawehn L; Institute for Clinical Genetics, TU Dresden, 01307, Dresden, Germany.; Klink B; Institute for Clinical Genetics, TU Dresden, 01307, Dresden, Germany.; Rump A; Institute for Clinical Genetics, TU Dresden, 01307, Dresden, Germany.; Chaponnier C; Department of Pathology-Immunology, Faculty of Medicine, University of Geneva, 1211, Geneva, Switzerland.; Figueiredo C; Institute for Transfusion Medicine, Hannover Medical School, 30625, Hannover, Germany.; Knöfler R; Department of Paediatric Haemostaseology, Medical Faculty of TU Dresden, 01307, Dresden, Germany.; Manstein DJ; Institute for Biophysical Chemistry, Hannover Medical School, 30625, Hannover, Germany. Manstein.Dietmar@mh-hannover.de.; Division for Structural Biochemistry, Hannover Medical School, 30625, Hannover, Germany. Manstein.Dietmar@mh-hannover.de.; Di Donato N; Institute for Clinical Genetics, TU Dresden, 01307, Dresden, Germany. Nataliya.didonato@uniklinikum-dresden.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: PubMed not MEDLINE

Latham SL; Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany. Latham.Sharissa@mh-hannover.de.; Ehmke N; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, 13353, Germany.; Berlin Institute of Health, Berlin, 10117, Germany.; Reinke PYA; Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany.; Division for Structural Biochemistry, Hannover Medical School, Hannover, 30625, Germany.; Taft MH; Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany.; Eicke D; Institute for Transfusion Medicine, Hannover Medical School, Hannover, 30625, Germany.; Reindl T; Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany.; Stenzel W; Department of Neuropathology, Charité-Universitätsmedizin Berlin, Berlin, 10117, Germany.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, SC, 29646, USA.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina, SC, 29646, USA.; Lee JA; Greenwood Genetic Center, Greenwood, South Carolina, SC, 29646, USA.; Hecker R; Institute for Clinical Chemistry and Laboratory Medicine, Medical Faculty of TU Dresden, Dresden, 01307, Germany.; Frühwald MC; Swabian Children's Cancer Center, Children's Hospital Augsburg, Augsburg, 86156, Germany.; Becker K; Medical Genetics Center, Munich, 80335, Germany.; Neuhann TM; Medical Genetics Center, Munich, 80335, Germany.; Horn D; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, 13353, Germany.; Schrock E; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.; Niehaus I; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.; Sarnow K; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.; Grützmann K; Core Unit for Molecular Tumor Diagnostics, National Center for Tumor Diseases Dresden, Dresden, 01307, Germany.; Gawehn L; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.; Klink B; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.; Rump A; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany.; Chaponnier C; Department of Pathology-Immunology, Faculty of Medicine, University of Geneva, Geneva, 1211, Switzerland.; Figueiredo C; Institute for Transfusion Medicine, Hannover Medical School, Hannover, 30625, Germany.; Knöfler R; Department of Paediatric Haemostaseology, Medical Faculty of TU Dresden, Dresden, 01307, Germany.; Manstein DJ; Institute for Biophysical Chemistry, Hannover Medical School, Hannover, 30625, Germany. Manstein.Dietmar@mh-hannover.de.; Division for Structural Biochemistry, Hannover Medical School, Hannover, 30625, Germany. Manstein.Dietmar@mh-hannover.de.; Di Donato N; Institute for Clinical Genetics, TU Dresden, Dresden, 01307, Germany. Nataliya.didonato@uniklinikum-dresden.de.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Henderson BB; Chaubey A; Roth LM; Robboy SJ; Tarasidis G; Jones JR; Sundermann JM; Chou J; Craddock AL; Stevenson L; Friez MJ; Kincaid EH; Stevenson RE

Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101142708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1424-859X (Electronic) Linking ISSN: 14248581 NLM ISO Abbreviation: Cytogenet Genome Res Subsets: MEDLINE

Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Coelho FS; Programa de Pós-Graduação em Genética Departmento de Biologia Geral, UFMG, Belo Horizonte, Minas Gerais, Brazil.; Instituto René Rachou, FIOCRUZ, Belo Horizonte, Minas Gerais, Brazil.; Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc, Tarrytown, New York.; Bernardini L; Medical Genetics Division, IRCCS 'Casa Sollievo della Sofferenza' Foundation, San Giovanni Rotondo (FG), Italy.; Mar SS; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri.; Manning MA; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California.; Department of Pathology, Stanford University School of Medicine, Palo Alto, California.; Hanson-Kahn A; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California.; Department of Genetics, Stanford University School of Medicine, Palo Alto, California.; Naidu S; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland.; Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.; Lee JA; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.; Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.; Friez MJ; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina.; Alberico T; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Torres B; Medical Genetics Division, IRCCS 'Casa Sollievo della Sofferenza' Foundation, San Giovanni Rotondo (FG), Italy.; Fang P; Clinical Genomics, WuXi NextCODE, Cambridge, Massachusetts.; Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Davis-Williams A; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Jornlin C; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Wight PA; Department of Physiology and Biophysics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Patyal P; Department of Physiology and Biophysics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas.; Taube J; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Poretti A; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Inoue K; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan.; Zhang F; State Key Laboratory of Genetic Engineering at School of Life Sciences, Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Hobson GM; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas.

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

Tejada MI; Genetics Service, Cruces University Hospital, Osakidetza Basque Health Service, Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Spanish Consortium for Research on Rare Diseases (CIBERER), Valencia, Spain.; Villate O; Genetics Service, Cruces University Hospital, Osakidetza Basque Health Service, Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Spanish Consortium for Research on Rare Diseases (CIBERER), Valencia, Spain.; Ibarluzea N; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Spanish Consortium for Research on Rare Diseases (CIBERER), Valencia, Spain.; de la Hoz AB; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Spanish Consortium for Research on Rare Diseases (CIBERER), Valencia, Spain.; Martínez-Bouzas C; Genetics Service, Cruces University Hospital, Osakidetza Basque Health Service, Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain.; Spanish Consortium for Research on Rare Diseases (CIBERER), Valencia, Spain.; Beristain E; Molecular Genetics Laboratory, Araba University Hospital, Osakidetza Basque Health Service, Vitoria-Gasteiz, Spain.; Martínez F; Servicio de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.; Friez MJ; Greenwood Genetic Center, Greenwood, SC, United States.; Sobrino B; Spanish Consortium for Research on Rare Diseases (CIBERER), Valencia, Spain.; Fundación Pública Galega de Medicina Xenómica, Grupo de Medicina Xenómica (USC), Santiago de Compostela, Spain.; Barros F; Spanish Consortium for Research on Rare Diseases (CIBERER), Valencia, Spain.; Fundación Pública Galega de Medicina Xenómica, Grupo de Medicina Xenómica (USC), Santiago de Compostela, Spain.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Velho RV; Section Cell Biology of Rare Diseases, Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Harms FL; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Danyukova T; Section Cell Biology of Rare Diseases, Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Ludwig NF; Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Post-Graduation Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Friez MJ; Greenwood Genetic Center, Greenwood, South Carolina.; Cathey SS; Greenwood Genetic Center, Greenwood, South Carolina.; Filocamo M; Laboratorio di Genetica Molecolare e Biobanche, Istituto Giannina Gaslini, Genova, Italy.; Tappino B; Laboratorio di Genetica Molecolare e Biobanche, Istituto Giannina Gaslini, Genova, Italy.; Güneş N; Department of Pediatric Genetics, Istanbul University Cerrahpasa, Medicine School, Istanbul, Turkey.; Tüysüz B; Department of Pediatric Genetics, Istanbul University Cerrahpasa, Medicine School, Istanbul, Turkey.; Tylee KL; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.; Brammeier KL; Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.; Heptinstall L; Genomic Diagnostics Laboratory, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Saint Mary's Hospital, Manchester, UK.; Oussoren E; Department of Pediatrics, Center for LyMannose phosphorylation in health and diseasesosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; van der Ploeg AT; Department of Pediatrics, Center for LyMannose phosphorylation in health and diseasesosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Petersen C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Alves S; Department of Human Genetics, INSA, National Health Institute Doutor Ricardo Jorge, Porto, Portugal.; Saavedra GD; División de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.; Schwartz IV; Department of Genetics, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Post-Graduation Program in Genetics and Molecular Biology, Federal University of Rio Grande do Sul, Porto Alegre, Brazil.; Muschol N; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Pohl S; Section Cell Biology of Rare Diseases, Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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