부산대학교 도서관

Yang, Xin; Leslie, Goska; Doroszuk, Alicja; Schneider, Sandra; Allen, Jamie; Decker, Brennan; Dunning, Alison M.; Redman, James; Scarth, James; Plaskocinska, Inga; Luccarini, Craig; Shah, Mitul; Pooley, Karen; Dorling, Leila; Leei, Andrew; Adank, Muriel A.; Adlard, Julian; Aittomäki, Kristiina; Andrulis, Irene L.; Ang, Peter; Barwell, Julian; Bernstein, Jonine L.; Bobolis, Kristie; Borg, Åke; Blomqvist, Carl; Claes, Kathleen B.M.; Concannon, Patrick; Cuggia, Adeline; Culver, Julie O.; Damiola, Francesca; De Pauw, Antoine; Diez, Orland; Dolinsky, Jill S.; Domchek, Susan M.; Engel, Christoph; Evans, D. Gareth; Fostira, Florentia; Garber, Judy; Golmard, Lisa; Goode, Ellen L.; Gruber, Stephen B.; Hahnen, Eric; Hake, Christopher; Heikkinen, Tuomas; Hurley, Judith E.; Janavicius, Ramunas; Kleibl, Zdenek; Kleiblova, Petra; Konstantopoulou, Irene; Kvist, Anders; Laduca, Holly; Lee, Ann S.G.; Lesueur, Fabienne; Maher, Eamonn R.; Mannermaa, Arto; Manoukian, Siranoush; McFarland, Rachel; McKinnon, Wendy; Meindl, Alfons; Metcalfe, Kelly; Taib, Nur Aishah Mohd; Moilanen, Jukka; Nathanson, Katherine L.; Neuhausen, Susan; Ng, Pei Sze; Nguyen-Dumont, Tu; Nielsen, Sarah M.; Obermair, Florian; Offit, Kenneth; Olopade, Olufunmilayo I.; Ottini, Laura; Penkert, Judith; Pylkäs, Katri; Goldgar, David; Ramus, Susan J.; Rudaitis, Vilius; Side, Lucy; Silva-Smith, Rachel; Silvestri, Valentina; Skytte, Anne Bine; Slavin, Thomas; Soukupova, Jana; Tondini, Carlo; Trainer, Alison H.; Unzeitig, Gary; Usha, Lydia; Van Overeem Hansen, Thomas; Whitworth, James; Wood, Marie; Yip, Cheng Har; Yoon, Sook Yee; Yussuf, Amal; Zogopoulos, George; Radice, Paolo; Hopper, John L.; Chenevix-Trench, Georgia; Pharoah, Paul; George, Sophia H.L.; Balmaña, Judith; Houdayer, Claude; James, Paul; El-Haffaf, Zaki; Ehrencrona, Hans; Janatova, Marketa; Peterlongo, Paolo; Nevanlinna, Heli; Schmutzler, Rita; Teo, Soo Hwang; Robson, Mark; Pal, Tuya; Couch, Fergus; Weitzel, Jeffrey N.; Elliott, Aaron; Southey, Melissa; Winqvist, Robert; Easton, Douglas F.; Foulkes, William D.; Antoniou, Antonis C.; Tischkowitz, Marc

Journal of Clinical Oncology. 38(7):674-685

Zanti, Maria; O'Mahony, Denise G.; Parsons, Michael T.; Li, Hongyan; Dennis, Joe; Aittomakkiki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Aronson, Kristan J.; Augustinsson, Annelie; Becher, Heiko; Bojesen, Stig E.; Bolla, Manjeet K.; Brenner, Hermann; Brown, Melissa A.; Buys, Saundra S.; Canzian, Federico; Caputo, Sandrine M.; Castelao, Jose E.; Chang-Claude, Jenny; Czene, Kamila; Daly, Mary B.; De Nicolo, Arcangela; Devilee, Peter; Dork, Thilo; Dunning, Alison M.; Dwek, Miriam; Eccles, Diana M.; Engel, Christoph; Evans, D. Gareth; Fasching, Peter A.; Gago-Dominguez, Manuela; Garcia-Closas, Montserrat; Garcia-Saenz, Jose A.; Gentry-Maharaj, Aleksandra; Geurts-Giele, Willemina R. R.; Giles, Graham G.; Glendon, Gord; Goldberg, Mark S.; Garcia, Encarna B. Gomez; Guendert, Melanie; Guenel, Pascal; Hahnen, Eric; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Harkness, Elaine F.; Hogervorst, Frans B. L.; Hollestelle, Antoinette; Hoppe, Reiner; Hopper, John L.; Houdayer, Claude; Houlston, Richard S.; Howell, Anthony; Investigators, Abctb; Jakimovska, Milena; Jakubowska, Anna; Jernstrom, Helena; John, Esther M.; Kaaks, Rudolf; Kitahara, Cari M.; Koutros, Stella; Kraft, Peter; Kristensen, Vessela N.; Lacey, James, V; Lambrechts, Diether; Leone, Melanie; Lindblom, Annika; Lush, Michael; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martinez, Maria Elena; Menon, Usha; Milne, Roger L.; Monteiro, Alvaro N.; Murphy, Rachel A.; Neuhausen, Susan L.; Nevanlinna, Heli; Newman, William G.; Offit, Kenneth; Park, Sue K.; James, Paul; Peterlongo, Paolo; Peto, Julian; Plaseska-Karanfilska, Dijana; Punie, Kevin; Radice, Paolo; Rashid, Muhammad U.; Rennert, Gad; Romero, Atocha; Rosenberg, Efraim H.; Saloustros, Emmanouil; Sandler, Dale P.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Shu, Xiao-Ou; Simard, Jacques; Southey, Melissa C.; Stone, Jennifer; Stoppa-Lyonnet, Dominique; Tamimi, Rulla M.; Tapper, William J.; Taylor, Jack A.; Teo, Soo Hwang; Teras, Lauren R.; Terry, Mary Beth; Thomassen, Mads; Troester, Melissa A.; Vachon, Celine M.; Vega, Ana; Vreeswijk, Maaike P. G.; Wang, Qin; Wappenschmidt, Barbara; Weinberg, Clarice R.; Wolk, Alicja; Zheng, Wei; Feng, Bingjian; Couch, Fergus J.; Spurdle, Amanda B.; Easton, Douglas F.; Goldgar, David E.; Michailidou, Kyriaki

Human Mutation. 2023

Parsons, M.T.; Hoya, M. de la; Richardson, M.E.; Tudini, E.; Anderson, M.; Berkofsky-Fessler, W.; Caputo, S.M.; Chan, R.C.; Cline, M.S.; Feng, B.J.; Fortuno, C.; Gomez-Garcia, E.; Hadler, J.; Hiraki, S.; Holdren, M.; Houdayer, C.; Hruska, K.; James, P.; Karam, R.; San Leong, H.; Martins, A.; Mensenkamp, A.R.; Monteiro, A.N.; Nathan, V.; O'Connor, R.; Pedersen, I.S.; Pesaran, T.; Radice, P.; Schmidt, G.; Southey, M.; Tavtigian, S.; Thompson, B.A.; Toland, A.E.; Turnbull, C.; Vogel, M.J.; Weyandt, J.; Wiggins, G.A.R.; Zec, L.; Couch, F.J.; Walker, L.C.; Vreeswijk, M.P.G.; Goldgar, D.E.; Spurdle, A.B.

Parsons, M T, de la Hoya, M, Richardson, M E, Tudini, E, Anderson, M, Berkofsky-Fessler, W, Caputo, S M, Chan, R C, Cline, M S, Feng, B-J, Fortuno, C, Gomez-Garcia, E, Hadler, J, Hiraki, S, Holdren, M, Houdayer, C, Hruska, K, James, P, Karam, R, Leong, H S, Martins, A, Mensenkamp, A R, Monteiro, A N, Nathan, V, O'Connor, R, Pedersen, I S, Pesaran, T, Radice, P, Schmidt, G, Southey, M, Tavtigian, S, Thompson, B A, Toland, A E, Turnbull, C, Vogel, M J, Weyandt, J, Wiggins, G A R, Zec, L, Couch, F J, Walker, L C, Vreeswijk, M P G, Goldgar, D E & Spurdle, A B 2024, 'Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel', American Journal of Human Genetics, vol. 111, no. 9, pp. 2044-2058. https://doi.org/10.1016/j.ajhg.2024.07.013
American Journal of Human Genetics, 111, 9, pp. 2044-2058
American Journal of Human Genetics, vol 111, iss 9

Linda A J Hendricks; Nicoline Hoogerbrugge; Arjen R Mensenkamp; Joan Brunet; Roser Lleuger-Pujol; Hildegunn Høberg-Vetti; Marianne Tveit Haavind; Giovanni Innella; Daniela Turchetti; Stefan Aretz; Isabel Spier; Marc Tischkowitz; Arne Jahn; Thera P Links; Maran J W Olderode-Berends; Ana Blatnik; Edward M Leter; D Gareth Evans; Emma R Woodward; Verena Steinke-Lange; Violetta C Anastasiadou; Chrystelle Colas; Marie-Charlotte Villy; Patrick R Benusiglio; Anna Gerasimenko; Valeria Barili; Maud Branchaud; Claude Houdayer; Bianca Tesi; M Omer Yazicioglu; Rachel S van der Post; Janneke H M Schuurs-Hoeijmakers; Liselotte P van Hest; Muriel A Adank; Floor Duijkers; Maartje Nielsen; Katja C J Verbeek; Yvette van Ierland; Jacques C Giltay; Janet R Vos

Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
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PTEN Study Group 2023, 'Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome', Journal of the National Cancer Institute, vol. 115, no. 1, pp. 93-103. https://doi.org/10.1093/jnci/djac188
Journal of the National Cancer Institute, 115, 1, pp. 93-103

Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. sebastien.kury@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. sebastien.kury@chu-nantes.fr.; Stanton JE; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland.; van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Bosc-Rosati A; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Bray L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Oloudé M; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France.; Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Scott-Boyer MP; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Most V; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.; Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China.; Papendorf JJ; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; de Konink C; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.; Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Studencka-Turski M; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Hajdukowicz AM; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Thiel FG; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Wolfgramm S; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.; Florenceau L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Marsac S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Verrès Y; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Dangoumau A; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Poirier L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA.; Tuttle A; GeneDx, LLC, Gaithersburg, MD, USA.; Forster C; Loyola University Chicago, Chicago, IL, USA.; Striesow J; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany.; Golnik R; Department of Computer Science and Interdisciplinary Center for Bioinformatics, Bioinformatics Group, Universität Leipzig, Leipzig, Germany.; Ortiz D; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.; Jenkins L; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA.; Ziegler A; Department of Medical Genetics, University Hospital of Toulouse, Toulouse, France.; Houdayer C; Service de Génétique médicale, CHU Angers, Angers, France.; Bonneau D; Service de Génétique médicale, CHU Angers, Angers, France.; Mitovasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France.; Torti E; GeneDx, LLC, Gaithersburg, MD, USA.; Begtrup A; GeneDx, LLC, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA.; Mullegama SV; GeneDx, LLC, Gaithersburg, MD, USA.; Volker-Touw CMLN; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; van Gassen KLI; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; de Pagter MS; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.; Steindl K; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich, Switzerland.; Ivanovski I; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; McDonald K; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.; Boothe E; University of Mississippi Medical Center, Jackson, MS, USA.; Dauber A; Division of Endocrinology, Children's National Hospital and Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.; Baker J; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.; Fabie NAV; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.; Bernier RA; Department of Psychiatry & Behavioral Sciences, Center on Human Development and Disability, University of Washington, Seattle, WA, USA.; Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Srivastava S; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Dies KA; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Swanson LC; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Costin C; Department of Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH, USA.; Abdulrazak A; Division of Genetics, Department of Pediatrics, West Virginia University School of Medicine, One Medical Center Drive, Morgantown, WV, USA.; Jobling RK; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, NY, USA.; Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Niyazov D; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Chun-Hui Tsai A; Department of Pediatrics, College of Medicine, University of Illinois, Chicago, IL, USA.; Kovak K; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, OHSU, Portland, OR, USA.; Beck DB; Division of Rheumatology, Department of Medicine, New York University Grossman School of Medicine, New York, NY, USA.; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.; Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Adams DR; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Wolfe L; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Ganetzky RD; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.; Muraresku CC; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Babikyan D; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, Yerevan, Armenia.; Laboratory of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.; Sedláček Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Hančárová M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.; Timberlake AT; Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY, USA.; Saif HA; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Department of Pediatrics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Nestler B; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; King K; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Hajianpour MJ; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Medical College, Albany, NY, USA.; Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.; Prendergast D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.; Li C; McMaster University Medical Center, Hamilton, ON, Canada.; Geneviève D; Université Montpellier, Inserm U 1183, Centre de référence maladies rares anomalies du développement, Service de génétique médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.; Vitobello A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Sorlin A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon, Dijon, France.; Philippe C; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Harel T; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Toker O; Department of Pediatrics, Allergy and Clinical Immunology Unit, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.; Sabir A; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Lim D; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.; Hamilton MJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Bryson LJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; Cleary E; South East Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.; UK Dementia Research Institute at University of Edinburgh, University of Edinburgh, Edinburgh, UK.; Weber S; Service de Génétique Médicale, Hôpital Armand-Trousseau, APHP, Sorbonne Université, Paris, France.; Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.; Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Gómez-Andrés D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Ververi A; Department of Genetics for Rare Diseases, 'Papageorgiou' General Hospital, Thessaloniki, Greece.; Pavlidou E; Department of Speech and Language Therapy, University Hospital of Ioannina, Ioannina, Greece.; Lambropoulos A; Genetic Unit, 1st Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, 'Papageorgiou' General Hospital, Thessaloniki, Greece.; Garganis K; Epilepsy Unit, St Luke's Hospital, Thessaloniki, Greece.; Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.; Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Multi-site medical biology laboratory SeqOIA-FMG2025, Paris, France.; Langas SJ; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; McRae AM; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Lessard MK; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; D'Agostino MD; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; De Bie I; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.; Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, University Hospital Magdeburg, Magdeburg, Germany.; Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Sznajer Y; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Wiame E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.; Thompson ML; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.; Schroeder MC; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Gooch C; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St Louis, St. Louis, MO, USA.; Smith RA; 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Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Meiler J; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.; Department of Chemistry, Department of Pharmacology, Center for Structural Biology, Institute of Chemical Biology, Center for Applied Artificial Intelligence in Protein Dynamics, Vanderbilt University, Nashville, TN, USA.; Ripoll C; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Bigou S; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.; Laumonnier F; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.; Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Leipzig, Germany.; Charité Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, Berlin, Germany.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.; McWalter K; GeneDx, LLC, Gaithersburg, MD, USA.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.; Roux-Dalvai F; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Elgersma Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Marcoux J; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Bousquet MP; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.; Droit A; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Département de médecine moléculaire, Faculté de médecine, Université Laval, 2325 rue de l'Université, Québec, QC, Canada.; Poschmann J; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France.; Grabrucker AM; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland.; Health Research Institute (HRI), University of Limerick, Limerick, Ireland.; Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. stephane.bezieau@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. stephane.bezieau@chu-nantes.fr.; Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. frederic.ebstein@univ-nantes.fr.; Krüger E; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany. elke.krueger@uni-greifswald.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

Peyronnel, C. ; Kessler, J. ; Bobillier-Chaumont Devaux, S. ; Houdayer, C. ; Tournier, M. ; Chouk, M. ; Wendling, D. ; Martin, H. ; Totoson, P. ; Demougeot, C.

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Chometton, S.; Charrière, K.; Bayer, L.; Houdayer, C.; Franchi, G.; Poncet, F.; Fellmann, D.; Risold, P. Y.

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Frontiers in Genetics. 10

Antoniou, Antonis C.; Wang, Xianshu; Fredericksen, Zachary S.; McGuffog, Lesley; Tarrell, Robert; Sinilnikova, Olga M.; Healey, Sue; Morrison, Jonathan; Kartsonaki, Christiana; Lesnick, Timothy; Ghoussaini, Maya; Barrowdale, Daniel; Peock, Susan; Cook, Margaret; Oliver, Clare; Frost, Debra; Eccles, Diana; Evans, D. Gareth; Eeles, Ros; Izatt, Louise; Chu, Carol; Douglas, Fiona; Paterson, Joan; Stoppa-Lyonnet, Dominique; Houdayer, Claude; Mazoyer, Sylvie; Giraud, Sophie; Lasset, Christine; Remenieras, Audrey; Caron, Olivier; Hardouin, Agnes; Berthet, Pascaline; Hogervorst, Frans B. L.; Rookus, Matti A.; Jager, Agnes; van den Ouweland, Ans; Hoogerbrugge, Nicoline; van der Luijt, Rob B.; Meijers-Heijboer, Hanne; Garcia, Encarna B. Gomez; Devilee, Peter; Vreeswijk, Maaike P. G.; Lubinski, Jan; Jakubowska, Anna; Gronwald, Jacek; Huzarski, Tomasz; Byrski, Tomasz; Gorski, Bohdan; Cybulski, Cezary; Spurdle, Amanda B.; Holland, Helene; Goldgar, David E.; John, Esther M.; Hopper, John L.; Southey, Melissa; Buys, Saundra S.; Daly, Mary B.; Terry, Mary-Beth; Schmutzler, Rita K.; Wappenschmidt, Barbara; Engel, Christoph; Meindl, Alfons; Preisler-Adams, Sabine; Arnold, Norbert; Niederacher, Dieter; Sutter, Christian; Domchek, Susan M.; Nathanson, Katherine L.; Rebbeck, Timothy; Blum, Joanne L.; Piedmonte, Marion; Rodriguez, Gustavo C.; Wakeley, Katie; Boggess, John F.; Basil, Jack; Blank, Stephanie V.; Friedman, Eitan; Kaufman, Bella; Laitman, Yael; Milgrom, Roni; Andrulis, Irene L.; Glendon, Gord; Ozcelik, Hilmi; Kirchhoff, Tomas; Vijai, Joseph; Gaudet, Mia M.; Altshuler, David; Guiducci, Candace; Loman, Niklas; Harbst, Katja; Rantala, Johanna; Ehrencrona, Hans; Gerdes, Anne-Marie; Thomassen, Mads; Sunde, Lone; Peterlongo, Paolo; Manoukian, Siranoush; Bonanni, Bernardo; Viel, Alessandra; Radice, Paolo; Caldes, Trinidad; de la Hoya, Miguel; Singer, Christian F.; Fink-Retter, Anneliese; Greene, Mark H.; Mai, Phuong L.; Loud, Jennifer T.; Guidugli, Lucia; Lindor, Noralane M.; Hansen, Thomas V. O.; Nielsen, Finn C.; Blanco, Ignacio; Lazaro, Conxi; Garber, Judy; Ramus, Susan J.; Gayther, Simon A.; Phelan, Catherine; Narod, Stephen; Szabo, Csilla I.; Benitez, Javier; Osorio, Ana; Nevanlinna, Heli; Heikkinen, Tuomas; Caligo, Maria A.; Beattie, Mary S.; Hamann, Ute; Godwin, Andrew K.; Montagna, Marco; Casella, Cinzia; Neuhausen, Susan L.; Karlan, Beth Y.; Tung, Nadine; Toland, Amanda E.; Weitzel, Jeffrey; Olopade, Olofunmilayo; Simard, Jacques; Soucy, Penny; Rubinstein, Wendy S.; Arason, Adalgeir; Rennert, Gad; Martin, Nicholas G.; Montgomery, Grant W.; Chang-Claude, Jenny; Flesch-Janys, Dieter; Brauch, Hiltrud; Severi, Gianluca; Baglietto, Laura; Cox, Angela; Cross, Simon S.; Miron, Penelope; Gerty, Sue M.; Tapper, William; Yannoukakos, Drakoulis; Fountzilas, George; Fasching, Peter A.; Beckmann, Matthias W.; Silva, Isabel dos Santos; Peto, Julian; Lambrechts, Diether; Paridaens, Robert; Ruediger, Thomas; Foersti, Asta; Winqvist, Robert; Pylkaes, Katri; Diasio, Robert B.; Lee, Adam M.; Eckel-Passow, Jeanette; Vachon, Celine; Blows, Fiona; Driver, Kristy; Dunning, Alison; Pharoah, Paul P. D.; Offit, Kenneth; Pankratz, V. Shane; Hakonarson, Hakon; Chenevix-Trench, Georgia; Easton, Douglas F.; Couch, Fergus J.

Nature Genetics. 42(10):885-892

Levacher C; Univ Rouen Normandie, Inserm U1245, Normandie Univ, F-76000 Rouen, France.; Delfosse J; Univ Rouen Normandie, Inserm U1245, Normandie Univ, F-76000 Rouen, France.; Charbonnier C; Univ Rouen Normandie, Inserm U1245, Normandie Univ, CHU Rouen, Department of Biostatistics, F-76000 Rouen, France.; Charbonnier F; Univ Rouen Normandie, Inserm U1245, Normandie Univ, F-76000 Rouen, France.; Viennot M; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Centre Henri Becquerel, F-76000 Rouen, France.; Kasper E; Univ Rouen Normandie, Inserm U1245, Normandie Univ, CHU Rouen, Department of Genetics, F-76000 Rouen, France.; Mauillon J; Univ Rouen Normandie, Normandie Univ, CHU Rouen, Department of Genetics, F-76000 Rouen, France.; Parodi N; Univ Rouen Normandie, Normandie Univ, CHU Rouen, Department of Genetics, F-76000 Rouen, France.; Baert-Desurmont S; Univ Rouen Normandie, Inserm U1245, Normandie Univ, CHU Rouen, Department of Genetics, F-76000 Rouen, France.; Ruminy P; Univ Rouen Normandie, Inserm U1245, Normandie Univ, Centre Henri Becquerel, F-76000 Rouen, France.; Houdayer C; Univ Rouen Normandie, Inserm U1245, Normandie Univ, CHU Rouen, Department of Genetics, F-76000 Rouen, France.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101526829 Publication Model: Electronic Cited Medium: Print ISSN: 2072-6694 (Print) Linking ISSN: 20726694 NLM ISO Abbreviation: Cancers (Basel) Subsets: PubMed not MEDLINE

Le Gall J; Department of Genetics, Institut Curie, Paris, France; PSL Research University, Paris, France. Electronic address: jessica.legall@curie.fr.; Dehainault C; Department of Genetics, Institut Curie, Paris, France; PSL Research University, Paris, France.; Petitalot A; Department of Genetics, Institut Curie, Paris, France; PSL Research University, Paris, France.; Amouyal E; Department of Genetics, Institut Curie, Paris, France.; Petitou J; Department of Genetics, Institut Curie, Paris, France.; Caputo SM; Department of Genetics, Institut Curie, Paris, France; PSL Research University, Paris, France.; Radvanyi F; PSL Research University, Paris, France; Molecular Oncology Team, CNRS, UMR144, Institut Curie, Paris, France.; Matet A; Department of Ocular Oncology, Institut Curie, Paris, France; Faculté de Médecine, Université Paris Cité, Paris, France.; Cassoux N; Department of Ocular Oncology, Institut Curie, Paris, France; Faculté de Médecine, Université Paris Cité, Paris, France.; Lumbroso-Le Rouic L; Department of Ocular Oncology, Institut Curie, Paris, France.; Aerts I; SIREDO Oncology Center (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Onology), Institut Curie, Paris, France.; Doz F; Molecular Oncology Team, CNRS, UMR144, Institut Curie, Paris, France; Faculté de Médecine, Université Paris Cité, Paris, France; SIREDO Oncology Center (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Onology), Institut Curie, Paris, France.; Gauthier-Villars M; Department of Genetics, Institut Curie, Paris, France; PSL Research University, Paris, France.; Stoppa-Lyonnet D; Department of Genetics, Institut Curie, Paris, France; Faculté de Médecine, Université Paris Cité, Paris, France; INSERM U830, Institut Curie, Paris, France.; Houdayer C; Département de Génétique, CHU Rouen, FHU G4 génomique, Normandie Univ, Inserm U1245, Univ Rouen Normandie, Rouen, France.; Golmard L; Department of Genetics, Institut Curie, Paris, France; PSL Research University, Paris, France.; Lallemand F; Department of Genetics, Institut Curie, Paris, France; PSL Research University, Paris, France.

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

Frebourg, T.; Bajalica Lagercrantz, S.; Oliveira, C.; Magenheim, R.; Evans, D. G.; Hoogerbrugge, N.; Ligtenberg, M.; Kets, M.; Oostenbrink, R.; Sijmons, R.; Evans, G.; Woodward, E.; Tischkowitz, M.; Maher, E.; Ferner, R. E.; Aretz, S.; Spier, I.; Steinke-Lange, V.; Holinski-Feder, E.; Schröck, E.; Houdayer, C.; Colas, C.; Wolkenstein, P.; Bours, Vincent; Legius, E.; Poppe, B.; Claes, K.; de Putter, R.; Guillermo, I. B.; Capella, G.; Vidal, J. B.; Lázaro, C.; Balmaña, J.; Hernandez, H. S.; Teixeira, M.; Bajalica-Lagercrantz, S.; Tham, E.; Lubinski, J.; Ertmanska, K.; Melegh, B.; Krajc, M.; Blatnik, A.; Peltonen, S.; Hietala, M.; The European Reference Network GENTURIS

Eur J Hum Genet
European Journal of Human Genetics, 28, 10, pp. 1379-86
EUROPEAN JOURNAL OF HUMAN GENETICS

Colson C; Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.; Tessarech M; Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.; CHU Angers, Service de Génétique Médicale, Angers, France.; Boucher-Brischoux E; CHU Besançon, Centre de Génétique Humaine, Besançon, France.; Boute-Benejean O; Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.; Vincent-Delorme C; Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.; Vanlerberghe C; Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.; Boussion S; Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.; Cunff JL; Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.; Duban-Bedu B; Hôpital Saint Vincent de Paul, GHICL, Centre de Génétique Chromosomique, Lille, France.; Faivre L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; CRMR Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Thauvin C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; CRMR Anomalies du Développement et Syndromes Malformatifs, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Philippe C; CHU Dijon Bourgogne, Service de Génomique Médicale, Laboratoire de Biologie Médicale, Dijon, France.; Bruel AL; CHU Dijon Bourgogne, Service de Génomique Médicale, Laboratoire de Biologie Médicale, Dijon, France.; Tran Mau-Them F; CHU Dijon Bourgogne, Service de Génomique Médicale, Laboratoire de Biologie Médicale, Dijon, France.; Houdayer C; CHU Angers, Service de Génétique Médicale, Angers, France.; Lesca G; Hospices Civils de Lyon, Service de Génétique, Université Claude Bernard Lyon 1, Lyon, France.; Putoux A; Hospices Civils de Lyon, Service de Génétique, Université Claude Bernard Lyon 1, Lyon, France.; Lévy J; Département de Génétique, Hôpital Universitaire Robert-Debré, Paris, France.; Patat O; Département de Génétique médicale, CHU Toulouse, Toulouse, France.; Rio M; Service de génétique, Hôpital Necker, Paris, France.; Ghoumid J; Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.; Smol T; Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Lord J; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Oquendo CJ; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Wai HA; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Douglas AGL; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Bunyan DJ; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK.; Wang Y; Center for Molecular Medicine, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, 201102, China.; Hu Z; University of California, Berkeley, Berkeley, CA, 94720, USA.; Zeng Z; Department of Biochemistry and Microbiology, Rutgers University, New Brunswick, NJ, 08873, USA.; Danis D; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT, 06032, USA.; Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Williams A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Chang Y; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Bagnall RD; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, Australia.; Mount SM; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA.; Matthiasardottir B; Graduate Program in Biological Sciences and Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, USA.; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, USA.; Lin C; DNAnexus, Mountain View, CA, 94040, USA.; Hansen TVO; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Leman R; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France.; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNICAEN, FHU G4 génomique, Rouen, France.; Martins A; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNIROUEN, FHU G4 génomique, Rouen, France.; Houdayer C; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNIROUEN, FHU G4 génomique, Rouen, France.; Department of Genetics, Univ Rouen Normandie, INSERM U1245, FHU-G4 Génomique and CHU Rouen, 76000, Rouen, France.; Krieger S; Laboratoire de Biologie et Génétique du Cancer, Centre François Baclesse, Caen, France.; Inserm U1245, Cancer Brain and Genomics, Normandie Université, UNICAEN, FHU G4 génomique, Rouen, France.; Bakolitsa C; University of California, Berkeley, Berkeley, CA, 94720, USA.; Peng Y; Khoury College of Computer Sciences, Northeastern University, Boston, MA, 02115, USA.; Kamandula A; Khoury College of Computer Sciences, Northeastern University, Boston, MA, 02115, USA.; Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, 02115, USA.; Baralle D; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. d.baralle@soton.ac.uk.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. d.baralle@soton.ac.uk.

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

Zanti, M.; O'Mahony, D.G.; Parsons, M.T.; Li, H.Y.; Dennis, J.; Aittomäkkiki, K.; Andrulis, I.L.; Anton-Culver, H.; Aronson, K.J.; Augustinsson, A.; Becher, H.; Bojesen, S.E.; Bolla, M.K.; Brenner, H.; Brown, M.A.; Buys, S.S.; Canzian, F.; Caputo, S.M.; Castelao, J.E.; Chang-Claude, J.; Czene, K.; Daly, M.B.; Nicolo, A. de; Devilee, P.; Dörk, T.; Dunning, A.M.; Dwek, M.; Eccles, D.M.; Engel, C.; Evans, D.G.; Fasching, P.A.; Gago-Dominguez, M.; García-Closas, M.; García-Sáenz, J.A.; Gentry-Maharaj, A.; Geurts-Giele, W.R.R.; Giles, G.G.; Glendon, G.; Goldberg, M.S.; Garcia, E.B.G.; Güendert, M.; Guénel, P.; Hahnen, E.; Haiman, C.A.; Hall, P.; Hamann, U.; Harkness, E.F.; Hogervorst, F.B.L.; Hollestelle, A.; Hoppe, R.; Hopper, J.L.; Houdayer, C.; Houlston, R.S.; Howell, A.; Investigators, A.; Jakimovska, M.; Jakubowska, A.; Jernström, H.; John, E.M.; Kaaks, R.; Kitahara, C.M.; Koutros, S.; Kraft, P.; Kristensen, V.N.; Lacey, J.; Lambrechts, D.; Léoné, M.; Lindblom, A.; Lush, M.; Mannermaa, A.; Manoochehri, M.; Manoukian, S.; Margolin, S.; Martinez, M.E.; Menon, U.; Milne, R.L.; Monteiro, A.N.; Murphy, R.A.; Neuhausen, S.L.; Nevanlinna, H.; Newman, W.G.; Offit, K.; Park, S.K.; James, P.; Peterlongo, P.; Peto, J.; Plaseska-Karanfilska, D.; Punie, K.; Radice, P.; Rashid, M.U.; Rennert, G.; Romero, A.; Rosenberg, E.H.; Saloustros, E.; Sandler, D.P.; Schmidt, M.K.; Schmutzler, R.K.; Shu, X.O.; Simard, J.; Southey, M.C.; Stone, J.; Stoppa-Lyonnet, D.; Tamimi, R.M.; Tapper, W.J.; Taylor, J.A.; Teo, S.H.; Teras, L.R.; Terry, M.B.; Thomassen, M.; Troester, M.A.; Vachon, C.M.; Vega, A.; Vreeswijk, M.P.G.; Wang, Q.; Wappenschmidt, B.; Weinberg, C.R.; Wolk, A.; Zheng, W.; Feng, B.J.; Couch, F.J.; Spurdle, A.B.; Easton, D.F.; Goldgar, D.E.; Michailidou, K.; GC-HBOC Study Collaborators

Houdayer, A.; Lebel, C.; Leroy, C.; Linhart, V.; Mares, J.J.; Pospisil, S.; Sopko, B.

2001 IEEE Nuclear Science Symposium Conference Record (Cat. No.01CH37310) Nuclear science symposium Nuclear Science Symposium Conference Record, 2001 IEEE. 1:584-589 vol.1 2001

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Houdayer C; Service de Génétique Médicale, CHU d'Angers, Angers, France. clara.houdayer@chu-angers.fr.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France. clara.houdayer@chu-angers.fr.; Rooney K; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; van der Laan L; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Bris C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Alders M; Department of Human Genetics, Amsterdam Reproduction & Development Research Institute, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.; Bahr A; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.; Barcia G; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Battault C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Begemann A; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.; Bonneau D; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Bonnevalle A; Normandy University, UNIROUEN, INSERM U1245 and University Hospital of Rouen, Department of Genetics and Reference Centre for Developmental Disorders, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Boughalem A; Laboratoire Cerba, Saint-Ouen-l'Aumone, France.; Bourges A; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Bournez M; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Bruel AL; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Carallis F; Laboratoire Multisites SeqOIA, Paris, France.; Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.; Cormier-Daire V; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Delanne J; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Demaret T; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium.; Denommé-Pichon AS; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Désir J; Centre de Génétique Humaine, Institut de Pathologie et Génétique, Gosselies, Belgium.; Dubourg C; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France.; Fradin M; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France.; Geneviève D; Montpellier University, Inserm, U1183, Montpellier, France.; Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Université de Bourgogne, Dijon, France.; Goel H; Hunter Genetics, Waratah, NSW, Australia.; Goldenberg A; Normandy University, UNIROUEN, INSERM U1245 and University Hospital of Rouen, Department of Genetics and Reference Centre for Developmental Disorders, F 76000, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.; Gripp KW; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA.; Guichet A; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Guimier A; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Jacquinet A; Department of Genetics, Sart Tilman University Hospital, Liège, Belgium.; Keren B; UF de Génétique Clinique et Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, ERN ITHACA, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France.; Legoff L; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Levy MA; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; McConkey H; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Mendelsohn BA; Department of Medical Genetics, Kaiser Oakland Medical Center, Oakland, CA, USA.; Mignot C; APHP Sorbonne Université, Département de Génétique, Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France.; Milon V; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Nizon M; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.; Oneda B; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.; Pasquier L; Service de Génétique Médicale, Centre Labellisé Anomalies du Développement de l'Ouest, CHU de Rennes, Rennes, France.; Patat O; Department of Genetics, University Hospital of Toulouse, Toulouse, France.; Philippe C; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Procaccio V; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Procopio R; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA.; Prouteau C; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Rambaud T; Laboratoire Multisites SeqOIA, Paris, France.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.; Relator R; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Rondeau S; Université Paris Cité, Service de Médecine Génomique des Maladies Rares, INSERM UMR 1163, Institut Imagine, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.; Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Schleit J; Blueprint Genetics, Quest Diagnostics Company, 2505 3rd Ave, Suite 204, Seattle, WA, 98121, USA.; Sorlin A; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Steindl K; Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Switzerland.; Tedder M; Greenwood Genetic Center, Greenwood, IN, USA.; Tessarech M; Service de Génétique Médicale, CHU d'Angers, Angers, France.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France.; Mau-Them FT; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Trost D; Laboratoire Cerba, Saint-Ouen-l'Aumone, France.; Van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Vincent M; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.; Whalen S; UF de Génétique Clinique et Centre de Référence Maladies Rares des Anomalies du Développement et Syndromes Malformatifs, ERN ITHACA, APHP.Sorbonne Université, Hôpital Armand Trousseau, Paris, France.; Thauvin-Robinet C; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, F-44000, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000, Nantes, France.; Sadikovic B; Verspeeten Clinical Genome Centre, London Health Science Centre, London, ON, Canada.; Department of Pathology and Laboratory Medicine, Western University, London, ON, Canada.; Vitobello A; Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, 21000, Dijon, France.; Center of Genetics and Reference Centre for Intellectual Disabilities, Dijon Bourgogne University Hospital, Dijon, France.; Colin E; Service de Génétique Médicale, CHU d'Angers, Angers, France. escolin@chu-angers.fr.; Univ Angers, [CHU Angers], INSERM, CNRS, MITOVASC, SFR ICAT, F-49000, Angers, France. escolin@chu-angers.fr.

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