부산대학교 도서관

Josephina A. N. Meester; Anne Hebert; Maaike Bastiaansen; Laura Rabaut; Jarl Bastianen; Nele Boeckx; Kathryn Ashcroft; Paldeep S. Atwal; Antoine Benichou; Clarisse Billon; Jan D. Blankensteijn; Paul Brennan; Stephanie A. Bucks; Ian M. Campbell; Solène Conrad; Stephanie L. Curtis; Majed Dasouki; Carolyn L. Dent; James Eden; Himanshu Goel; Verity Hartill; Arjan C. Houweling; Bertrand Isidor; Nicola Jackson; Pieter Koopman; Anita Korpioja; Minna Kraatari-Tiri; Liina Kuulavainen; Kelvin Lee; Karen J. Low; Alan C. Lu; Morgan L. McManus; Stephen P. Oakley; James Oliver; Nicole M. Organ; Eline Overwater; Nicole Revencu; Alison H. Trainer; Bhavya Trivedi; Claire L. S. Turner; Rebecca Whittington; Andreas Zankl; Dominica Zentner; Lut Van Laer; Aline Verstraeten; Bart L. Loeys

npj Genomic Medicine, Vol 9, Iss 1, Pp 1-9 (2024)

Meester, Josephina A. N.; Hebert, Anne; Bastiaansen, Maaike; Rabaut, Laura; Bastianen, Jarl; Boeckx, Nele; Ashcroft, Kathryn; Atwal, Paldeep S.; Benichou, Antoine; Billon, Clarisse; Blankensteijn, Jan D.; Brennan, Paul; Bucks, Stephanie A.; Campbell, Ian M.; Conrad, Solène; Curtis, Stephanie L.; Dasouki, Majed; Dent, Carolyn L.; Eden, James; Goel, Himanshu; Hartill, Verity; Houweling, Arjan C.; Isidor, Bertrand; Jackson, Nicola; Koopman, Pieter; Korpioja, Anita; Kraatari-Tiri, Minna; Kuulavainen, Liina; Lee, Kelvin; Low, Karen J.; Lu, Alan C.; McManus, Morgan L.; Oakley, Stephen P.; Oliver, James; Organ, Nicole M.; Overwater, Eline; Revencu, Nicole; Trainer, Alison H.; Trivedi, Bhavya; Turner, Claire L. S.; Whittington, Rebecca; Zankl, Andreas; Zentner, Dominica; Van Laer, Lut; Verstraeten, Aline; Loeys, Bart L.

npj Genomic Medicine. 9(1)

Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, University of Louvain, VASCERN VASCA European Reference Centre, Brussels, Belgium.; Eijkelenboom A; Department of Pathology, Radboud University Medical Center, VASCERN VASCA European Reference Centre, PO Box 9101, 6500, HB, Nijmegen, the Netherlands.; Bracquemart C; Normandie Univ, UNICAEN, Service de Génétique, CHU Caen Normandie, BIOTARGEN EA 7450, VASCERN VASCA European Reference Centre, Caen, 14000, France.; Alhopuro P; HUS Diagnostic Center, Laboratory of Genetics, University of Helsinki and Helsinki University Hospital, VASCERN VASCA European Reference Centre, Helsinki, Finland.; Armstrong J; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, CIBER-ER (Biomedical Network Research Center for Rare Diseases), Instituto de Salud Carlos III (ISCIII), Madrid, and Genomic Unit, Molecular and Genetic Medicine Section, Hospital Sant Joan de Déu, VASCERN VASCA European Reference Centre, Barcelona, Spain.; Baselga E; Department of Dermatology, Hospital Sant Joan de Deu, VASCERN VASCA European Reference Centre, Barcelona, Spain.; Cesario C; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital and Research Institute, IRCCS, VASCERN VASCA European Reference Centre, Rome, Italy.; Dentici ML; Medical Genetics Unit, Bambino Gesù Children's Hospital, IRCCS, VASCERN VASCA European Reference Centre, 00165, Rome, Italy.; Eyries M; Sorbonne Université, Département de Génétique, Assistance Publique-Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, VASCERN VASCA European Reference Centre, Paris, France.; Frisk S; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, VASCERN VASCA European Reference Centre, Stockholm, Sweden.; Karstensen HG; Department of Genetics, Center of Diagnostics, Copenhagen University Hospital - Rigshospitalet, VASCERN VASCA European Reference Centre, Copenhagen, Denmark.; Gene-Olaciregui N; Laboratory of Molecular Oncology, Pediatric Cancer Center Barcelona, Hospital Sant Joan de Déu, VASCERN VASCA European Reference Centre, Barcelona, Spain.; Kivirikko S; Department of Clinical Genetics, HUS Diagnostic Center, University of Helsinki and Helsinki University Hospital, VASCERN VASCA European Reference Centre, Helsinki, Finland.; Lavarino C; Laboratory of Molecular Oncology, Pediatric Cancer Center Barcelona, Hospital Sant Joan de Déu, VASCERN VASCA European Reference Centre, Barcelona, Spain.; Mero IL; Department of Medical Genetics, Oslo University Hospital, VASCERN VASCA European Reference Centre, Oslo, Norway.; Michiels R; Center for Human Genetics, Cliniques universitaires Saint-Luc, University of Louvain, VASCERN VASCA European Reference Centre, Brussels, Belgium.; Pisaneschi E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital and Research Institute, IRCCS, VASCERN VASCA European Reference Centre, Rome, Italy.; Schönewolf-Greulich B; Department of Genetics, Center of Diagnostics, Copenhagen University Hospital - Rigshospitalet, VASCERN VASCA European Reference Centre, Copenhagen, Denmark.; Wieland I; Institute of Human Genetics, University Hospital Otto-Von-Guericke-University, Magdeburg, Germany.; Zenker M; Institute of Human Genetics, University Hospital Otto-Von-Guericke-University, Magdeburg, Germany.; Vikkula M; Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, Brussels, Belgium. miikka.vikkula@uclouvain.be.; Human Molecular Genetics , de Duve Institute, University of Louvain, VASCERN VASCA European Reference Centre, Brussels, Belgium. miikka.vikkula@uclouvain.be.; WELBIO Department, WEL Research Institute, Avenue Pasteur, 6, 1300, Wavre, Belgium. miikka.vikkula@uclouvain.be.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Dawes R; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Kim HC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Walker S; Genomics England, London, UK.; Ljungdahl A; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Lord J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; Ganesh VS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Ma J; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Martin-Geary AC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Lemire G; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; D'Souza EN; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Dong S; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Ellingford JM; Genomics England, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.; Adams DR; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Allan K; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.; Baldwin EE; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Berger SI; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Chapman K; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Cunningham CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; D'Souza P; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Délot EC; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Dias KR; Neuroscience Research Australia, Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; Elias ER; Department of Pediatrics, Children's Hospital Colorado, Aurora, CO, USA.; University of Colorado School of Medicine, University of Colorado, Aurora, CO, USA.; Evans CA; Neuroscience Research Australia, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Ewans L; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Ezell K; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Fraser JL; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Grant CL; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Fevre AL; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Liebelt JE; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.; Repromed, Dulwich, SA, Australia.; Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, NSW, Australia.; Macnamara EF; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Maurer TM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Mendez HR; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Montgomery SB; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pathology, Department of Genetics, Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.; Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.; Neumann S; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Phillips J; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Pitsava G; Institute for Clinical and Translational Research, University of California, Irvine, CA, USA.; Pysar R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Rehm HL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Reuter CM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.; Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Rius R; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Roscioli T; Neuroscience Research Australia, Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Sachdev R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; UK and Chalfont Centre for Epilepsy, Bucks, UK.; Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Temple SE; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.; School of Women's and Childrens's Health, University of New South Wales, Sydney, NSW, Australia.; Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Tifft CJ; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Uebergang E; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; VanNoy GE; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.; Viskochil DH; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Wedd L; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Wheeler MT; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wojcik M; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Wolfe LA; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Wolfenson Z; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Xiao C; Department of Neurology, University of California, Irvine, CA, USA.; Zocche D; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.; Rubenstein JL; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Markenscoff-Papadimitriou E; Department of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Fica SM; Department of Biochemistry, University of Oxford, Oxford, UK.; Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; National Institute for Health Research (NIHR) Southampton Biomedical Research Centre, University Hospital Southampton National Health Service (NHS) Foundation Trust, Southampton, UK.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Howson JM; Human Genetics Centre of Excellence, Novo Nordisk Research Centre, Oxford, UK.; Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

De Bortoli M; Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium.; Ivars M; Department of Dermatology, VASCERN VASCA European Reference Center, Hospital Sant Joan de Deu, Barcelona, Spain.; Revencu N; Center for Human Genetics, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Nassogne MC; Pediatric Neurology Unit, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Lavarino C; Laboratory of Molecular Oncology, VASCERN VASCA European Reference Center, Pediatric Cancer Center Barcelona, Hospital Sant Joan de Déu, Barcelona, Spain.; Paco S; Laboratory of Molecular Oncology, VASCERN VASCA European Reference Center, Pediatric Cancer Center Barcelona, Hospital Sant Joan de Déu, Barcelona, Spain.; Lammens M; Department of Pathology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Service d'anatomopathologie, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Renders A; Rehabilitation Department, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Dumitriu D; Pediatric Radiology Unit, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Helaers R; Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium.; Boon LM; Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium.; Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Baselga E; Department of Dermatology, VASCERN VASCA European Reference Center, Hospital Sant Joan de Deu, Barcelona, Spain.; Vikkula M; Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium.; WELBIO department, WEL Research Institute, Wavre, Belgium.

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

Brouillard P; Laboratory of Human Molecular Genetics, University of Louvain, Brussels, Belgium.; Murtomäki A; Wihuri Research Institute, Biomedicum Helsinki, Helsinki, Finland.; Leppänen VM; Translational Cancer Medicine Program, University of Helsinki, Helsinki, Finland.; Hyytiäinen M; Translational Cancer Medicine Program, University of Helsinki, Helsinki, Finland.; Mestre S; Department of Vascular Medicine, CHU Montpellier, Université de Montpellier, Montpellier, France.; Potier L; Laboratory of Human Molecular Genetics, University of Louvain, Brussels, Belgium.; Boon LM; Division of Plastic Surgery, Université catholique de louvain and Clinique universitaire St-Luc, Brussels, Belgium.; Revencu N; Centre for Human Genetics, Cliniques universitaires St Luc, University of Louvain, Brussels, Belgium.; Greene AK; Department of Plastic and Oral Surgery, Boston Children's Hospital, Boston, United States of America.; Anisimov A; Wihuri Research Institute, Biomedicum Helsinki, Helsinki, Finland.; Salo MH; Research Unit of Clinical Medicine and Medical Research Center Oulu, University of Oulu, Oulu, Finland.; Hinttala R; Research Unit of Clinical Medicine and Medical Research Center Oulu, University of Oulu, Oulu, Finland.; Eklund L; Oulu Center for Cell-Matrix Research, University of Oulu, Oulu, Finland.; Quéré I; Department of Vascular Medicine, CHU Montpellier, Université de Montpellier, Montpellier, France.; Alitalo K; Wihuri Research Institute, Biomedicum Helsinki, Helsinki, Finland.; Vikkula M; Laboratory of Human Molecular Genetics, University of Louvain, Brussels, Belgium.

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

Seront E; Institut Roi Albert II, Department of Medical Oncology, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Brussels, Belgium.; Froidure A; Department of Pneumology, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Brussels, Belgium.; Revencu N; Center for Human Genetics, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Brussels, Belgium.; Dekeuleneer V; Division of Plastic Surgery, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Cliniques Universitaires St Luc, Avenue Hippocrate 10, Brussels, B-1200, Belgium.; Clapuyt P; Department of Pediatric Radiology, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Brussels, Belgium.; Dumitriu D; Department of Pediatric Radiology, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Brussels, Belgium.; Vikkula M; Human Molecular Genetics, De Duve Institute, UCLouvain, Brussels, Belgium.; WELBIO Department, WEL Research Institute, Avenue Pasteur, 6, Wavre, 1300, Belgium.; Boon LM; Division of Plastic Surgery, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Cliniques Universitaires St Luc, Avenue Hippocrate 10, Brussels, B-1200, Belgium. Laurence.boon@saintluc.uclouvain.be.; Human Molecular Genetics, De Duve Institute, UCLouvain, Brussels, Belgium. Laurence.boon@saintluc.uclouvain.be.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Alpaslan M; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium.; Fastré E; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium.; Mestre S; Department of vascular medicine, Hospital Saint-Eloi, University Hospital of Montpellier, Avenue Augustin Fliche 80, Montpellier 34090, France.; van Haeringen A; Leiden University Medical Center, Albinusdreef 2, Leiden 2333, the Netherlands.; Repetto GM; Clinica Alemana Universidad del Desarrollo, Av Plaza 680, Las Condes, Lo Barnechea, Región Metropolitana 7710167, Chile.; Keymolen K; Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, Brussels 1090, Belgium.; Boon LM; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, Avenue Hippocrate 10, Brussels 1200, Belgium.; Belva F; Department of Lymphatic Surgery, AZ Sint-Maarten Hospital, VASCERN PPL European Reference Centre, Liersesteenweg 435, Mechelen 2800, Belgium.; Giacalone G; Department of Lymphatic Surgery, AZ Sint-Maarten Hospital, VASCERN PPL European Reference Centre, Liersesteenweg 435, Mechelen 2800, Belgium.; Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc, University of Louvain, Avenue Hippocrate 10, Brussels 1200, Belgium.; Sznajer Y; Center for Human Genetics, Cliniques Universitaires Saint-Luc, University of Louvain, Avenue Hippocrate 10, Brussels 1200, Belgium.; Riches K; University Hospitals of Derby and Burton NHS Foundation Trust, Uttoxeter Rd, Derby DE22 3NE, United Kingdom.; Keeley V; University Hospitals of Derby and Burton NHS Foundation Trust, Uttoxeter Rd, Derby DE22 3NE, United Kingdom.; University of Nottingham Medical School, Nottingham, East Block, Lenton, Nottingham NG7 2UH, United Kingdom.; Mansour S; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; South West Thames Regional Centre for Genomics, St. George's Universities Hospitals NHS Foundation Trust, Blackshaw Rd, London SW17 0QT, United Kingdom.; Gordon K; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; Dermatology and Lymphovascular Medicine, St. George's Universities NHS Foundation Trust, Blackshaw Rd, London SW17 0QT, United Kingdom.; Martin-Almedina S; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; Dobbins S; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; Ostergaard P; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; Quere I; Department of vascular medicine, Hospital Saint-Eloi, University Hospital of Montpellier, Avenue Augustin Fliche 80, Montpellier 34090, France.; Brouillard P; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium.; Vikkula M; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium.; WELBIO Department, WEL Research Institute, Avenue Pasteur, 6, Wavre 1300, Belgium.

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

Lagneaux E; Division of Adult Hematology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), Brussels, Belgium.; Boon LM; Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.; Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.; Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.; Revencu N; Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.; Department of Clinical Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.; Vikkula M; Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.; Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.; Hermans C; Division of Adult Hematology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), Brussels, Belgium.; Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.

Publisher: Elsevier Country of Publication: United States NLM ID: 101703775 Publication Model: eCollection Cited Medium: Internet ISSN: 2475-0379 (Electronic) Linking ISSN: 24750379 NLM ISO Abbreviation: Res Pract Thromb Haemost Subsets: PubMed not MEDLINE

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In: American Journal of Human Genetics. (American Journal of Human Genetics, 7 March 2024, 111(3):509-528)