부산대학교 도서관

Jiao, Yue ; Truong, Thérèse ; Eon-Marchais, Séverine ; Mebirouk, Noura ; Caputo, Sandrine M. ; Dondon, Marie-Gabrielle ; Karimi, Mojgan ; Le Gal, Dorothée ; Beauvallet, Juana ; Le Floch, Édith ; Dandine-Roulland, Claire ; Bacq-Daian, Delphine ; Olaso, Robert ; Albuisson, Juliette ; Audebert-Bellanger, Séverine ; Berthet, Pascaline ; Bonadona, Valérie ; Buecher, Bruno ; Caron, Olivier ; Cavaillé, Mathias ; Chiesa, Jean ; Colas, Chrystelle ; Collonge-Rame, Marie-Agnès ; Coupier, Isabelle ; Delnatte, Capucine ; De Pauw, Antoine ; Dreyfus, Hélène ; Fert-Ferrer, Sandra ; Gauthier-Villars, Marion ; Gesta, Paul ; Giraud, Sophie ; Gladieff, Laurence ; Golmard, Lisa ; Lasset, Christine ; Lejeune-Dumoulin, Sophie ; Léoné, Mélanie ; Limacher, Jean-Marc ; Lortholary, Alain ; Luporsi, Élisabeth ; Mari, Véronique ; Maugard, Christine M. ; Mortemousque, Isabelle ; Mouret-Fourme, Emmanuelle ; Nambot, Sophie ; Noguès, Catherine ; Popovici, Cornel ; Prieur, Fabienne ; Pujol, Pascal ; Sevenet, Nicolas ; Sobol, Hagay ; Toulas, Christine ; Uhrhammer, Nancy ; Vaur, Dominique ; Venat, Laurence ; Boland-Augé, Anne ; Guénel, Pascal ; Deleuze, Jean-François ; Stoppa-Lyonnet, Dominique ; Andrieu, Nadine ; Lesueur, Fabienne

In European Journal of Cancer January 2023 179:76-86

Küry, Sébastien ; Zhang, Jinwei ; Besnard, Thomas ; Caro-Llopis, Alfonso ; Zeng, Xue ; Robert, Stephanie M. ; Josiah, Sunday S. ; Kiziltug, Emre ; Denommé-Pichon, Anne-Sophie ; Cogné, Benjamin ; Kundishora, Adam J. ; Hao, Le T. ; Li, Hong ; Stevenson, Roger E. ; Louie, Raymond J. ; Deb, Wallid ; Torti, Erin ; Vignard, Virginie ; McWalter, Kirsty ; Raymond, F. Lucy ; Rajabi, Farrah ; Ranza, Emmanuelle ; Grozeva, Detelina ; Coury, Stephanie A. ; Blanc, Xavier ; Brischoux-Boucher, Elise ; Keren, Boris ; Õunap, Katrin ; Reinson, Karit ; Ilves, Pilvi ; Wentzensen, Ingrid M. ; Barr, Eileen E. ; Guihard, Solveig Heide ; Charles, Perrine ; Seaby, Eleanor G. ; Monaghan, Kristin G. ; Rio, Marlène ; van Bever, Yolande ; van Slegtenhorst, Marjon ; Chung, Wendy K. ; Wilson, Ashley ; Quinquis, Delphine ; Bréhéret, Flora ; Retterer, Kyle ; Lindenbaum, Pierre ; Scalais, Emmanuel ; Rhodes, Lindsay ; Stouffs, Katrien ; Pereira, Elaine M. ; Berger, Sara M. ; Milla, Sarah S. ; Jaykumar, Ankita B. ; Cobb, Melanie H. ; Panchagnula, Shreyas ; Duy, Phan Q. ; Vincent, Marie ; Mercier, Sandra ; Gilbert-Dussardier, Brigitte ; Le Guillou, Xavier ; Audebert-Bellanger, Séverine ; Odent, Sylvie ; Schmitt, Sébastien ; Boisseau, Pierre ; Bonneau, Dominique ; Toutain, Annick ; Colin, Estelle ; Pasquier, Laurent ; Redon, Richard ; Bouman, Arjan ; Rosenfeld, Jill. A. ; Friez, Michael J. ; Pérez-Peña, Helena ; Akhtar Rizvi, Syed Raza ; Haider, Shozeb ; Antonarakis, Stylianos E. ; Schwartz, Charles E. ; Martínez, Francisco ; Bézieau, Stéphane ; Kahle, Kristopher T. ; Isidor, Bertrand

In Genetics in Medicine September 2022 24(9):1941-1951

Pacot L; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Blok M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Vidaud D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Fertitta L; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France.; Laurendeau I; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Coustier A; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Maillard T; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Barbance C; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Hadjadj D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Ye M; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Lallemand D; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Ferkal S; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France.; Funalot B; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.; Lunati-Rozie A; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.; Hebrard B; Department of Genetics, AP-HP (Assistance Publique-Hôpitaux de Paris), Henri Mondor University Hospital, Créteil, France.; Bhouri R; Department of Ophthalmology, Centre Hospitalier Intercommunal de Créteil (CHIC), Créteil, France.; Spruijt L; Department of Clinical Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.; Bessis D; Department of Dermatology and Reference Center for Rare Skin Diseases MAGEC-Sud Montpellier, Filière Maladies Rares Dermatologiques (FIMARAD), Saint-Eloi Hospital, and University of Montpellier, Montpellier, France.; Geneviève D; Inserm U1183, Department of Clinical Genetics, Reference center for rare disease developmental anomaly and malformative syndrome, CHU Montpellier, and Montpellier University, Montpellier, France.; Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.; GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Broen MPG; Department of Neurology, GROW School for Oncology and Reproduction, Maastricht University Medical Centre, Maastricht, The Netherlands.; Sigaudy S; Department of Medical Genetics, Children's Hospital La Timone, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Odent S; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.; Damaj L; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.; Quélin C; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.; Pasquier L; Service de génétique clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France.; Layet V; Consultations de Génétique, Groupe Hospitalier du Havre, Le Havre, France.; Gilbert-Dussardier B; Service de Génétique, CHU de Poitiers, Poitiers, France.; Nicolas G; Department of Genetics and reference center for developmental abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Guerrot AM; Department of Genetics and reference center for developmental abnormalities, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France.; Leheup B; Service de Génétique Médicale, Hôpitaux de Brabois, CHRU de Nancy, Vandoeuvre-lès-Nancy, France.; Bursztejn AC; Department of Dermatology, CHRU Nancy, Vandoeuvre-lès-Nancy, France.; Petit F; Clinique de Génétique, Centre de Référence Anomalies du Développement, Univ. Lille, CHU Lille, Lille, France.; Boute-Bénéjean O; Clinique de Génétique, Centre de Référence Anomalies du Développement, Univ. Lille, CHU Lille, Lille, France.; Capri Y; UF de Génétique Clinique, CHU Robert Debré, Paris, France.; Guimier A; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.; Lyonnet S; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.; Baujat G; Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.; Bourrat E; Department of Dermatology, MAGEC-Nord Hôpital Saint Louis, Assistance Publique des Hôpitaux de Paris (AP-HP), Paris, France.; Isidor B; Medical Genetics Department, CHU de Nantes, Hôtel Dieu Hospital, Nantes, France.; Nizon M; Medical Genetics Department, CHU de Nantes, Hôtel Dieu Hospital, Nantes, France.; Barbarot S; Department of Dermatology, CHU Nantes, INRAE, UMR 1280, PhAN, Nantes University, Nantes, France.; Toutain A; Department of Genetics, Bretonneau University Hospital, Tours, France.; UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Blesson S; Department of Genetics, Bretonneau University Hospital, Tours, France.; Van-Gils J; Département de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, Bordeaux, France.; Morice-Picard F; Pediatric Dermatology Unit, National Center for Rare Skin Disorders, University Hospital of Bordeaux, Bordeaux, France.; Audebert-Bellanger S; Service de Pédiatrie et de Génétique Médicale, CHRU Morvan, Brest, France.; Mazereeuw-Hautier J; Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France.; Ziegler A; Department of Genetics, University Hospital of Toulouse, Toulouse, France.; Alembik Y; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Piard J; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; UMR1231 GAD, Inserm, Université de Bourgogne, Dijon, France.; Brischoux-Boucher E; Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.; Guerrini-Rousseau L; Department of Children and Adolescents Oncology, Gustave Roussy, Université Paris-Saclay, Villejuif, France.; Morera J; Department of Endocrinology and Diabetology, CHU Côte de Nacre, Caen, France.; Paquis-Flucklinger V; Inserm U1081, CNRS UMR7284, IRCAN, Université Côte d'Azur, CHU de Nice, Nice, France.; Delobel B; Service de génétique médicale, GH de l'Institut Catholique de Lille, Lille, France.; Alessandri JL; service de pédiatrie, CHU Féleix Guyon, Saint-Denis, France.; Parfait B; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France.; Fédération de Génétique et Médecine Génomique, DMU BioPhyGen, Hôpital Cochin, AP-HP.Centre-Université Paris Cité, Paris, France.; Wolkenstein P; Department of Dermatology, Hôpital Henri Mondor, Assistance Publique-Hôpital Paris (AP-HP), Créteil, France.; INSERM U955, Université Paris Est Créteil (UPEC), Créteil, France.; Pasmant E; Institut Cochin, Inserm U1016, CNRS UMR8104, Université Paris Cité, CARPEM, Paris, France eric.pasmant@inserm.fr.; Genetics Department, Institut Curie, Paris, France.

Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

Harris, Holly K; Nakayama, Tojo; Lai, Jenny; Zhao, Boxun; Argyrou, Nikoleta; Gubbels, Cynthia S; Soucy, Aubrie; Genetti, Casie A; Suslovitch, Victoria; Rodan, Lance H; Tiller, George E; Lesca, Gaetan; Gripp, Karen W; Asadollahi, Reza; Hamosh, Ada; Applegate, Carolyn D; Turnpenny, Peter D; Simon, Marleen E H; Volker-Touw, Catharina M L; Gassen, Koen L I van; Binsbergen, Ellen van; Pfundt, Rolph; Gardeitchik, Thatjana; Vries, Bert B A de; Immken, LaDonna L; Buchanan, Catherine; Willing, Marcia; Toler, Tomi L; Fassi, Emily; Baker, Laura; Vansenne, Fleur; Wang, Xiadong; Ambrus, Julian L; Fannemel, Madeleine; Posey, Jennifer E; Agolini, Emanuele; Novelli, Antonio; Rauch, Anita; Boonsawat, Paranchai; Fagerberg, Christina R; Larsen, Martin J; Kibaek, Maria; Labalme, Audrey; Poisson, Alice; Payne, Katelyn K; Walsh, Laurence E; Aldinger, Kimberly A; Balciuniene, Jorune; Skraban, Cara; Gray, Christopher; Murrell, Jill; Bupp, Caleb P; Pascolini, Giulia; Grammatico, Paola; Broly, Martin; Küry, Sébastien; Nizon, Mathilde; Rasool, Iqra Ghulam; Zahoor, Muhammad Yasir; Kraus, Cornelia; Reis, André; Iqbal, Muhammad; Uguen, Kevin; Audebert-Bellanger, Severine; Ferec, Claude; Redon, Sylvia; Baker, Janice; Wu, Yunhong; Zampino, Giuseppe; Syrbe, Steffan; Brosse, Ines; Jamra, Rami Abou; Dobyns, William B; Cohen, Lilian L; Blomhoff, Anne; Mignot, Cyril; Keren, Boris; Courtin, Thomas; Agrawal, Pankaj B; Beggs, Alan H; Yu, Timothy W

Genetics in Medicine, 23, 6, pp. 1028-1040
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Jeanne, Médéric; Demory, Hélène; Moutal, Aubin; Vuillaume, Marie-Laure; Blesson, Sophie; Thépault, Rose-Anne; Marouillat, Sylviane; Halewa, Judith; Maas, Saskia M; Motazacker, M Mahdi; Mancini, Grazia M S; van Slegtenhorst, Marjon A; Andreou, Avgi; Cox, Helene; Vogt, Julie; Laufman, Jason; Kostandyan, Natella; Babikyan, Davit; Hancarova, Miroslava; Bendova, Sarka; Sedlacek, Zdenek; Aldinger, Kimberly A; Sherr, Elliott H; Argilli, Emanuela; England, Eleina M; Audebert-Bellanger, Séverine; Bonneau, Dominique; Colin, Estelle; Denommé-Pichon, Anne-Sophie; Gilbert-Dussardier, Brigitte; Isidor, Bertrand; Küry, Sebastien; Odent, Sylvie; Redon, Richard; Khanna, Rajesh; Dobyns, William B; Bézieau, Stéphane; Honnorat, Jérôme; Lohkamp, Bernhard; Toutain, Annick; Laumonnier, Frédéric

American Journal of Human Genetics, vol 108, iss 5

Evin M. Padhi; Tristan J. Hayeck; Zhang Cheng; Sumantra Chatterjee; Brandon J. Mannion; Marta Byrska-Bishop; Marjolaine Willems; Lucile Pinson; Sylvia Redon; Caroline Benech; Kevin Uguen; Séverine Audebert-Bellanger; Cédric Le Marechal; Claude Férec; Stephanie Efthymiou; Fatima Rahman; Shazia Maqbool; Reza Maroofian; Henry Houlden; Rajeeva Musunuri; Giuseppe Narzisi; Avinash Abhyankar; Riana D. Hunter; Jennifer Akiyama; Lauren E. Fries; Jeffrey K. Ng; Elvisa Mehinovic; Nick Stong; Andrew S. Allen; Diane E. Dickel; Raphael A. Bernier; David U. Gorkin; Len A. Pennacchio; Michael C. Zody; Tychele N. Turner

Human Genomics, Vol 15, Iss 1, Pp 1-15 (2021)

Massier M; Department of Genetics, Reims University Hospital, Reims, France.; Doco-Fenzy M; Department of Genetics, Reims University Hospital, Reims, France.; Department of Genetics, Nantes University Hospital, Nantes, France.; Egloff M; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, INSERM, LNEC, Department of Genetics, Poitiers University Hospital, Poitiers, France.; Le Guillou X; Department of Genetics, Poitiers University Hospital, Poitiers, France.; University of Poitiers, CNRS, LMA, Department of Genetics, Poitiers University Hospital, Poitiers, France.; Le Guyader G; Department of Genetics, Poitiers University Hospital, Poitiers, France.; Redon S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Benech C; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Le Millier K; Department of Genetics, Brest University Hospital, Brest, France.; Uguen K; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; University of Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Ropars J; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; Sacaze E; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; Audebert-Bellanger S; Department of Genetics, Brest University Hospital, Brest, France.; Intellectual Disability Reference Center, Department of Pediatrics, Brest University Hospital, Brest, France.; Apetrei A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Molin A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Gruchy N; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Vincent-Devulder A; University of Normandy, UNICAEN, RU7450 BioTARGen, Caen University Hospital, Department of Genetics, Reference Center for Developmental Disorders and Malformative Syndromes, Anddi-Rares Network, Caen, France.; Spodenkiewicz M; Department of Genetics, Le Reunion University Hospital, St-Pierre, France.; Jacquin C; Department of Genetics, Reims University Hospital, Reims, France.; Loron G; Department of Neonatal Medicine and Pediatric Intensive Care, University of Reims Champagne-Ardenne, CReSTIC, Reims University Hospital, Reims, France.; Thibaud M; Department of Pediatrics, American Memorial Hospital, Reims, France.; Delplancq G; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France.; Brisset S; Constitutional Genetics Unit, Versailles Hospital, Le Chesnay, France.; Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Malan V; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Romana S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Marlin S; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Amiel J; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France.; Marquet V; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France.; Dauriat B; Department of Cytogenetics, Clinical Genetics and Reproductive Biology, Limoges University Hospital, Limoges, France.; Moradkhani K; Department of Genetics, Nantes University Hospital, Nantes, France.; Mercier S; Department of Genetics, Nantes University Hospital, Nantes, France.; Isidor B; Department of Genetics, Nantes University Hospital, Nantes, France.; Arpin S; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Pujalte M; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Jedraszak G; Constitutional Genetic Laboratory, University Hospital of Amiens & UR4666 HEMATIM, University of Picardie Jules Verne, Amiens, France.; Pebrel-Richard C; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Salaun G; Cytogenetic Medical Department; UIC Cytogenetics of Rare Diseases and Reproduction (GRUIC ADERGEN), Rare Diseases Reference Center (CRMR): Developmental Anomalies and Malformative Syndromes in the Auvergne Region, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Laffargue F; Department of Medical Genetics, UIC ADDIR (GRIUC ADERGEN), Constitutive Reference Center CLAD South-East: Developmental anomalies and malformative syndromes, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Boudjarane J; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Missirian C; Medical Genetics Department, Timone Enfants University Hospital, Assistance Publique des Hôpitaux de Marseille, Marseille, France.; Chelloug N; Department of Medical Genetics, Toulouse University Hospital, Toulouse, France.; Toutain A; Department of Genetics, Tours University Hospital, UMR 1253, iBrain, University of Tours, Inserm, Tours, France.; Chiesa J; Department of Genetics, Nimes, University Hospital, Nimes University Hospital, Nimes, France.; Keren B; Department of Genetics, APHP Sorbonne University, Paris, France.; Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France.; Gouy E; Department of Genetics, Hospices Civils de Lyon, Lyon, France.; Jaillard S; Department of Cytogenetics and Cell Biology, Rennes university hospital, Rennes, France.; Landais E; Department of Genetics, Reims University Hospital, Reims, France.; Poirsier C; Department of Genetics, Reims University Hospital, Reims, France.

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

G, Gourier; S, Audebert-Bellanger; P, Vourc'h; S, Fraitag; K, L'Hérondelle; A, Labouche; L, Misery; C, Abasq-Thomas

Annales de Dermatologie et de Vénéréologie. 145:486-491

Uguen K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Pensec M; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Benech C; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Schutz S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Zanlonghi X; Centre de compétence maladie rare, Service d'Ophtalmologie, CHU Rennes, Rennes, France.; Nadjar Y; Département de Neurologie, Centre de Référence des Maladies Lysosomales, Hôpital Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France.; Le Maréchal C; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Férec C; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Audebert-Bellanger S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.

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

Herbst C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Axer-Schaefer S; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany.; Audebert-Bellanger S; Department of Genetics, CHU Brest, 29000, Brest, France.; Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.; Cogne B; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France.; Feldman HB; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Horn AHC; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Erlangen National High Performance Computing Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.; Kelly MA; HudsonAlpha Clinical Services Lab, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA.; Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital University of Arizona College of Medicine, Phoenix, USA.; Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Laquerriere A; Department of Anatomy, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France.; Li M; Invitae Corp, San Francisco, CA, USA.; Mark PR; Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA.; Morawski M; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany.; Nizon M; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France.; Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA.; Polster T; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany.; Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France.; SeSong J; Genomic Medicine Institute, Seoul National University, Seoul, Republic of Korea.; Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Stieler JT; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany.; Thifffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA.; van Eyk CL; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.; Marcorelles P; Department of Anatomy, CHU Brest, 29000, Brest, France.; Vezain-Mouchard M; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. henry.oppermann@medizin.uni-leipzig.de.

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

Kermasson, Laëtitia ; Churikov, Dmitri ; Awad, Aya ; Smoom, Riham ; Lainey, Elodie ; Touzot, Fabien ; Audebert-Bellanger, Séverine ; Haro, Sophie ; Roger, Lauréline ; Costa, Emilia ; Mouf, Maload ; Bottero, Adriana ; Oleastro, Matias ; Abdo, Chrystelle ; de Villartay, Jean-Pierre ; Géli, Vincent ; Tzfati, Yehuda ; Callebaut, Isabelle ; Danielian, Silvia ; Soares, Gabriela ; Kannengiesser, Caroline ; Revy, Patrick

In Blood 21 April 2022 139(16):2427-2440

Ribeiro-Guerra M; Inserm, U1331, 75248 Paris cedex 05, France.; Institut Curie, 75248 Paris cedex 05, France.; Mines ParisTech, 75272 Paris cedex 06, France.; PSL Research University, 75006 Paris, France.; Department of Public Health, Faculty of Medicine, Federal University of Juiz de Fora (UFJF), Juiz de Fora 36036-900, MG, Brazil.; Dondon MG; Inserm, U1331, 75248 Paris cedex 05, France.; Institut Curie, 75248 Paris cedex 05, France.; Mines ParisTech, 75272 Paris cedex 06, France.; PSL Research University, 75006 Paris, France.; Eon-Marchais S; Inserm, U1331, 75248 Paris cedex 05, France.; Institut Curie, 75248 Paris cedex 05, France.; Mines ParisTech, 75272 Paris cedex 06, France.; PSL Research University, 75006 Paris, France.; Le Gal D; Inserm, U1331, 75248 Paris cedex 05, France.; Institut Curie, 75248 Paris cedex 05, France.; Mines ParisTech, 75272 Paris cedex 06, France.; PSL Research University, 75006 Paris, France.; Beauvallet J; Inserm, U1331, 75248 Paris cedex 05, France.; Institut Curie, 75248 Paris cedex 05, France.; Mines ParisTech, 75272 Paris cedex 06, France.; PSL Research University, 75006 Paris, France.; Mebirouk N; Inserm, U1331, 75248 Paris cedex 05, France.; Institut Curie, 75248 Paris cedex 05, France.; Mines ParisTech, 75272 Paris cedex 06, France.; PSL Research University, 75006 Paris, France.; Belotti M; Institut Curie, Service de Génétique, 75248 Paris cedex 05, France.; Cavaciuti E; Inserm, U1331, 75248 Paris cedex 05, France.; Institut Curie, 75248 Paris cedex 05, France.; Mines ParisTech, 75272 Paris cedex 06, France.; PSL Research University, 75006 Paris, France.; Adenis-Lavignasse C; Polyclinique de la Louvière (Groupe Ramsay), 59800 Lille, France.; Audebert-Bellanger S; Département de Génétique Médicale et Biologie de la Reproduction, Hôpital Morvan, CHU Brest, 29200 Brest, France.; Berthet P; Unité de Pathologie Gynécologique, Centre François Baclesse, 14000 Caen, France.; Bonadona V; CNRS, Laboratoire de Biométrie et Biologie Evolutive UMR 5558, Université Lyon 1, 69622 Villeurbanne, France.; Centre Léon Bérard, Unité de Prévention et Epidémiologie Génétique, 69008 Lyon, France.; Buecher B; Institut Curie, Service de Génétique, 75248 Paris cedex 05, France.; Caron O; Gustave Roussy, Département de Médecine Oncologique, 94800 Villejuif, France.; Cavaille M; Centre Jean Perrin, Département d'Oncogénétique, Inserm, UMR 1240, Université Clermont Auvergne, 63001 Clermont Ferrand, France.; Chiesa J; Service d'Oncologie Médicale, CHRU Hôpital Caremeau, 30900 Nîmes, France.; Colas C; Institut Curie, Service de Génétique, 75248 Paris cedex 05, France.; Institut Curie, Hôpital René Huguenin, 92210 Saint-Cloud, France.; Coupier I; Service de Génétique Médicale et Oncogénétique, Hôpital Arnaud de Villeneuve, CHU Montpellier, 34090 Montpellier, France.; Inserm, U896, CRCM Val d'Aurelle, 34090 Montpellier, France.; Delnatte C; Unité d'Oncogénétique, Institut de Cancérologie de l'Ouest, 44800 Saint-Herblain, France.; Dreyfus H; Clinique Sainte Catherine, 84000 Avignon, France.; Département de Génétique, Hôpital Couple-Enfant, CHU de Grenoble, 38700 Grenoble, France.; Fajac A; 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Cancer Genetics Unit, Inserm U1312, Institut Bergonié, University of Bordeaux, 33000 Bordeaux, France.; Lortholary A; Service d'Oncologie Médicale, Centre Catherine de Sienne, 44200 Nantes, France.; Luporsi E; Service de Génétique, UF4128, CHR Metz-Thionville, Hôpital de Mercy, 57530 Ars-Laquenexy, France.; Maugard CM; UF1422, Génétique Oncologique Moléculaire, Département d'Oncobiologie, LBBM, Hôpitaux Universitaires de Strasbourg, 67200 Strasbourg, France.; UF6948, Génétique Oncologique Clinique, Evaluation Familiale et Suivi, Hôpitaux Universitaires de Strasbourg, 67200 Strasbourg, France.; Mortemousque I; Service de Génétique, Hôpital Bretonneau, 75018 Paris, France.; Nambot S; Institut GIMI, Oncogénétique, CHU de Dijon, Hôpital d'Enfants, 21000 Dijon, France.; Centre de Lutte Contre le Cancer Georges François Leclerc, 21000 Dijon, France.; Noguès C; Département d'Anticipation et de Suivi des Cancers, Oncogénétique Clinique, Institut Paoli-Calmettes, 13009 Marseille, France.; Inserm, IRD, SESSTIM, Aix Marseille University, 13009 Marseille, France.; Pujol P; Service de Génétique Médicale et Oncogénétique, Hôpital Arnaud de Villeneuve, CHU Montpellier, 34090 Montpellier, France.; Inserm, U896, CRCM Val d'Aurelle, 34090 Montpellier, France.; Venat-Bouvet L; Service d'Oncologie Médicale, Hôpital Universitaire Dupuytren, 87000 Limoges, France.; Soubrier F; UMR_S 1166, Faculté de Médecine, SU Site Pitié-Salpêtrière, 75013 Paris, France.; Tinat J; Service de Génétique Médicale, CHU De Bordeaux, Groupe Hospitalier Pellegrin, 33000 Bordeaux, France.; Tardivon A; Service de Radiologie, Institut Curie, 75005 Paris, France.; Lesueur F; Inserm, U1331, 75248 Paris cedex 05, France.; Institut Curie, 75248 Paris cedex 05, France.; Mines ParisTech, 75272 Paris cedex 06, France.; PSL Research University, 75006 Paris, France.; Stoppa-Lyonnet D; Institut Curie, Service de Génétique, 75248 Paris cedex 05, France.; Inserm, U830, 75005 Paris, France.; Université Paris-Cité, 75006 Paris, France.; Andrieu N; Inserm, U1331, 75248 Paris cedex 05, France.; Institut Curie, 75248 Paris cedex 05, France.; Mines ParisTech, 75272 Paris cedex 06, France.; PSL Research University, 75006 Paris, 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

Renuy, J.; Misery, L.; Abasq-Thomas, C.; Audebert-Bellanger, S.; Collet, C.

In: JEADV Clinical Practice. (JEADV Clinical Practice, June 2025, 4(2):630-632)

Holly K. Harris; Tojo Nakayama; Jenny Lai; Boxun Zhao; Nikoleta Argyrou; Cynthia S. Gubbels; Aubrie Soucy; Casie A. Genetti; Lance H. Rodan; George E. Tiller; Gaetan Lesca; Karen W. Gripp; Reza Asadollahi; Ada Hamosh; Carolyn D. Applegate; Peter D. Turnpenny; Marleen E.H. Simon; Catharina (Nienke) M.L. Volker-Touw; Koen L.I. van Gassen; Ellen van Binsbergen; Rolph Pfundt; Thatjana Gardeitchik; Bert B.A. de Vries; Ladonna L. Imken; Catherine Buchanan; Marcia Willing; Tomi L. Toler; Emily Fassi; Laura Baker; Fleur Vansenne; Xiadong Wang; Julian L. Ambrus; Madeleine Fannemel; Jennifer E. Posey; Emanuele Agolini; Antonio Novelli; Anita Rauch; Paranchai Boonsawat; Christina R. Fagerberg; Martin J. Larsen; Maria Kibaek; Audrey Labalme; Alice Poisson; Katelyn K. Payne; Laurence E. Walsh; Kimberly Aldinger; Jorune Balciuniene; Cara Skraban; Christopher Gray; Jill Murrell; Caleb P. Bupp; Giulia Pascolini; Paola Grammatico; Martin Broly; Sébastien Küry; Mathilde Nizon; Iqra Ghulam Rasool; Muhammad Yasir Zahoor; Cornelia Kraus; André Reis; Muhammad Iqbal; Kevin Uguen; Severine Audebert-Bellanger; Claude Ferec; Sylvia Redon; Janice Baker; Yunhong Wu; Guiseppe Zampino; Steffan Syrbe; Ines Brosse; Rami Abou Jamra; William B. Dobyns; Lilian L. Cohen; Pankaj B. Agrawal; Alan Beggs; Timothy W. Yu

Uguen, K.; Ka, C.; Planes, M.; Audebert-Bellanger, S.; Redon, S.; Benech, C.; Kury, S.; Peudenier, S.; Autret, S.; Gourlaouen, I.; Bonneau, D.; Odent, S.; Bezieau, S.; Gilbert-Dussardier, B.; Boland, A.; Deleuze, J.; Le Marechal, C.; Le Gac, G.; Ferec, C.

Couloigner L; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France.; Planes M; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France.; Ka C; Service de Génétique Médicale, CHU de Brest, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Audebert-Bellanger S; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France.; Redon S; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Benech C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Rouault K; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Küry S; Service de Génétique Médicale, Nantes Université, CHU Nantes, Nantes, France.; INSERM, l'institut du thorax, Nantes Université, CHU Nantes, CNRS, Nantes, France.; Peudenier S; Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France.; Autret S; Service de Génétique Médicale, CHU de Brest, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Gourlaouen I; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Bonneau D; Département de biochimie et génétique, CHU d'Angers, Angers, France.; Odent S; Service de Génétique Clinique, CHU de Rennes, UMR6290 CNRS, Université Rennes, Rennes, France.; Bézieau S; Service de Génétique Médicale, Nantes Université, CHU Nantes, Nantes, France.; INSERM, l'institut du thorax, Nantes Université, CHU Nantes, CNRS, Nantes, France.; Gilbert-Dussardier B; Service de Génétique, CHU de Poitiers, Poitiers, France.; Toutain A; Service de Génétique, CHU de Tours, UMR1253 iBrain INSERM, Université de Tours, Tours, France.; Boland A; Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, CEA, Evry, France.; Deleuze JF; Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, CEA, Evry, France.; Le Marechal C; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Le Gac G; Service de Génétique Médicale, CHU de Brest, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Ferec C; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Uguen K; Service de Génétique Médicale, CHU de Brest, Brest, France.; Centre de Référence Déficiences Intellectuelles, Service de Pédiatrie, CHU de Brest, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, 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

Pellant, M. ; Misery, L. ; Audebert-Bellanger, S. ; Abasq-Thomas, C.

In Annales de Dermatologie et de Vénéréologie - FMC December 2025 5(8) Supplement:A282-A283

Cordovado A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Schaettin M; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland.; Jeanne M; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France.; Panasenkava V; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Denommé-Pichon AS; Functional Unit in Innovative Genomic Diagnosis of Rare Diseases, FHU-TRANSLAD, Dijon-Bourgogne University Hospital, Dijon 21079, France.; UMR1231 GAD, INSERM - Bourgogne-Franche Comté University, Dijon 21000, France.; Keren B; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France.; Mignot C; Genetics Department, Pitié-Salpêtrière Hospital, AP-HP. Sorbonne University, Paris 75651, France.; Doco-Fenzy M; University Hospital Reims, AMH2, Genetics Division, SFR CAP santé EA3801, Reims 51100, France.; Rodan L; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA.; Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ 85012, USA.; Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA.; Mitchell WG; Neurology Division, Keck School of Medicine, University of Southern California, Children's Hospital Los Angeles, CA 90027, USA.; Ozmore JR; Dartmouth Hitchcock Medical Center, Lebanon, NH 03766, USA.; Juliette K; Neurology Department, Gillette Children's Specialty Healthcare, St Paul, MN 55101, USA.; Torti E; GeneDx, Gaithersburg, MD 20877, USA.; Normand EA; GeneDx, Gaithersburg, MD 20877, USA.; Granger L; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA.; Petersen AK; Genetics Division, Department of Pediatric Development and Rehabilitation, Randall Children's Hospital, Portland, OR 97227, USA.; Au MG; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA.; Matheny JP; Department of Genetics and Metabolism, University of Kentucky, Lexington, KY 40536, USA.; Phornphutkul C; Division of Human Genetics, Department of Pediatrics, Warren Alpert Medical School of Brown University, Hasbro Children's Hospital, Providence, RI 02903, USA.; Chambers MK; Division of Genetics, Rhode Island Hospital, Hasbro Children's Hospital, Providence, RI 02903, USA.; Fernández-Ramos JA; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain.; López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba 14004, Spain.; Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Departments of Child Health, Neurology, and Cellular & Molecular Medicine, and Program in Genetics, University of Arizona College of Medicine-Phoenix, Phoenix, AZ 85004, USA.; Zollino M; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples 80078, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples 80138, Italy.; Marangi G; Università Cattolica Sacro Cuore, Dipartimento Scienze della Vita e Sanità Pubblica, Sezione di Medicina Genomica, Roma 00168, Italy.; Fondazione Policlinico A. Gemelli IRCCS, U. O. C. Genetica Medica, Roma 00168, Italy.; Mei D; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy.; Pisano T; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy.; Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, Member of ERN Epicare, University of Florence, Florence 50139, Italy.; Louie RJ; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Childers A; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Everman DB; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Isidor B; Medical Genetics Service, Clinical Genetics Unit, University Hospital of Nantes, Hôtel Dieu, Nantes 44093, France.; Audebert-Bellanger S; Clinical Genetics Service, University Hospital of Brest, Morvan Hospital, Brest 29609, France.; Odent S; Clinical Genetics Service, University Hospital, Genetic and Development Institute of Rennes IGDR, UMR 6290 University of Rennes, ITHACA ERN, Rennes 35203, France.; Bonneau D; Department of Medical Genetics, University Hospital of Angers and Mitovasc INSERM 1083, CNRS 6015, Angers 49000, France.; Gilbert-Dussardier B; Medical Genetics, University Hospital, La Milétrie, BP 577, Poitiers 86021, France.; Redon R; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France.; Bézieau S; INSERM, CNRS, UNIV Nantes, Thorax Institute, Nantes 44007, France.; Medical Genetics Service, University Hospital of Nantes, Nantes 44093, France.; Laumonnier F; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Stoeckli ET; Department of Molecular Life Sciences, Neuroscience Center Zurich, University of Zurich, Zurich 8057, Switzerland.; Toutain A; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France.; Vuillaume ML; UMR 1253, iBrain, University of Tours, INSERM, Tours 37032, France.; Genetics Department, University Hospital of Tours, Tours 37044, France.

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

Diallo M; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Courdier C; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.; Mercier E; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Sequeira A; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Defay-Stinat A; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Plaisant C; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.; Mesdaghi S; Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool L69 7ZB, UK.; Computational Biology Facility, MerseyBio, University of Liverpool, Crown Street, Liverpool L69 7ZB, UK.; Rigden D; Institute of Systems, Molecular and Integrative Biology, University of Liverpool, Liverpool L69 7ZB, UK.; Javerzat S; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Lasseaux E; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.; Bourgeade L; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.; Audebert-Bellanger S; Service de Génétique Médicale, Centre Hospitalier Universitaire de Brest, 29200 Brest, France.; Dollfus H; Service de Génétique Médicale, Centre Hospitalier Universitaire de Strasbourg, 67091 Strasbourg, France.; Hadj-Rabia S; Service de Dermatologie, Hôpital Necker-Enfants Malades, 75015 Paris, France.; Morice-Picard F; Service de Dermatologie, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.; Philibert M; Hôpital Fondation Rothschild, 75019 Paris, France.; Sidibé MK; Infirmerie Hôpital Militaire, Bamako BP 236, Mali.; Smirnov V; Service d'Exploration Fonctionnelle de la Vision et de Neuro-Ophtalmologie, Centre Hospitalier Universitaire de Lille, 59037 Lille, France.; Sylla O; Infirmerie Hôpital Militaire, Bamako BP 236, Mali.; Michaud V; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.; Arveiler B; Laboratoire Maladies Rares, Génétique et Métabolisme, Bordeaux University, INSERM U1211, 33076 Bordeaux, France.; Service de Génétique Médicale, Centre Hospitalier Universitaire de Bordeaux, 33076 Bordeaux, France.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Uguen K; Service de Génétique Médicale, CHRU de Brest, Brest, France.; University Brest, Inserm, EFS, Brest, France.; Krysiak K; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Audebert-Bellanger S; Service de Génétique Médicale, CHRU de Brest, Brest, France.; Redon S; Service de Génétique Médicale, CHRU de Brest, Brest, France.; University Brest, Inserm, EFS, Brest, France.; Benech C; University Brest, Inserm, EFS, Brest, France.; Viora-Dupont E; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France.; Tran Mau-Them F; Unité Fonctionnelle 6254 d'Innovation en Diagnostic Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.; Rondeau S; Fédération de Génétique Médicale, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.; Elsharkawi I; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Granadillo JL; Department of Pediatrics, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Neidich J; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.; Soares CA; Serviço de Genética Médica, Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.; Unit for Multidisciplinary Research in Biomedicine, Instituto de Ciências Biomédicas Abel Salazar/Universidade do Porto, Porto, Portugal.; Tkachenko N; Serviço de Genética Médica, Centro de Genética Médica Jacinto Magalhães, Centro Hospitalar Universitário do Porto, Porto, Portugal.; M Amudhavalli S; Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Engleman K; Department of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, Evry, France.; Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine, Evry, France.; Bezieau S; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, Nantes, France.; Odent S; Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de Causes Rares, Centre de Référence Anomalies du Développement, Centre Labellisé pour les Anomalies du Développement (CLAD) Ouest, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; Institut de Génétique et Développement de Rennes, UMR 6290, Université de Rennes, Rennes, France.; Toutain A; Service de Génétique, Centre Hospitalier Universitaire de Tours, Université de Tours, Tours, France.; Bonneau D; Centre Hospitalier Universitaire de Angers, Département de Biochimie et Génétique, Mitochondrial and Cardiovascular Pathophysiology (MITOVASC), Unité mixte de Recherche, Centre National de la Recherche Scientifique 6015, Angers, France.; Gilbert-Dussardier B; Centre Hospitalier Universitaire de Poitiers, Service de Génétique, Université Poitiers, Poitiers, France.; Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, Dijon, France.; Inserm - Université de Bourgogne UMR1231 GAD, FHU-TRANSLAD, Dijon, France.; Rio M; Fédération de Génétique Médicale, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.; Le Marechal C; Service de Génétique Médicale, CHRU de Brest, Brest, France.; University Brest, Inserm, EFS, Brest, France.; Ferec C; Service de Génétique Médicale, CHRU de Brest, Brest, France.; University Brest, Inserm, EFS, Brest, France.; Repnikova E; Department of Pathology, Children's Mercy Hospital/University of Missouri Kansas City Medical School, Kansas City, Missouri, USA.; Cao Y; Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, Missouri, USA.

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