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Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review Bessis, Didier; Vidaud, Dominique; Meyer, Pierre; Pacot, Laurence; Villeon, de La G.; Bonnard, Adeline Alice; Capri, Yline; Coubes, Christine; Herman, Fanchon; Lacombe, Didier; Molinari, Nicolas; Poujade, Laura; Roubertie, Agathe; Van Gils, Julien; Verloes, Alain; Genevieve, David; Cave, Helene; Willems, Marjolaine Share Save
Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations Dollfus, Helene; Lilien, Marc R.; Maffei, Pietro; Verloes, Alain; Muller, Jean; Bacci, Giacomo M.; Cetiner, Metin; van den Akker, Erica L. T.; Pechhacker, Monika Grudzinska; Testa, Francesco; Lacombe, Didier; Stokman, Marijn F.; Simonelli, Francesca; Gouronc, Aurelie; Gavard, Amelie; van Haelst, Mieke M.; Koenig, Jens; Rossignol, Sylvie; Bergmann, Carsten; Zacchia, Miriam; Leroy, Bart P.; Mosbah, Helena; Van Eerde, Albertien M.; Mekahli, Djalila; Servais, Aude; Poitou, Christine; Valverde, Diana Share Save
A multidisciplinary and structured investigation of three suspected clusters of transverse upper limb reduction defects in France Boudet-Berquier, Julie; Demattei, Christophe; Guldner, Laurence; Gallay, Anne; Manouvrier, Sylvie; Botton, Jeremie; Philippat, Claire; Delva, Fleur; Bloch, Juliette; Semaille, Caroline; Odent, Sylvie; Perthus, Isabelle; Randrianaivo, Hanitra; Babajko, Sylvie; Barjat, Tiphaine; Beneteau, Claire; Brennetot, Naima; Garne, Ester; Haddad, Georges; Hocine, Mounia; Lacroix, Isabelle; Leuraud, Klervi; Mench, Michel; Morris, Joan; Patrier, Sophie; Sartelet, Arnaud; Verloes, Alain; Bonaldi, Christophe; Le Barbier, Melina; Gagniere, Bertrand; Pepin, Philippe; Ollivier, Ronan; Bitoun, Monique; King, Lisa; Guajardo-Villar, Andrea; Gomes, Eugenia; Desenclos, Jean-Claude; Regnault, Nolwenn; Benachi, Alexandra Share Save
Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients Bessis, Didier; Bursztejn, Anne-Claire; Morice-Picard, Fanny; Capri, Yline; Barbarot, Sebastien; Aubert, Helene; Bodet, Damien; Bourrat, Emmanuelle; Chiaverini, Christine; Poujade, Laura; Willems, Marjolaine; Rouanet, Jacques; Dompmartin-Blanchere, Anne; Genevieve, David; Gerard, Marion; Ginglinger, Emmanuelle; Hadj-Rabia, Smail; Martin, Ludovic; Mazereeuw-Hautier, Juliette; Bibas, Nathalie; Molinari, Nicolas; Herman, Fanchon; Phan, Alice; Rod, Julien; Roger, Hugues; Sigaudy, Sabine; Ziegler, Alban; Vial, Yoann; Verloes, Alain; Cave, Helene; Lacombe, Didier Share Save
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study (Feb, 10.1038/s41431-024-01560-8, 2024) Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joel; Fagerberg, Christina; Andersen, Charlotte Brasch; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gerard, Benedicte; Fradin, Melanie; Vitobello, Antonio; Tenconi, Romano; Denomme-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A.; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C.; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M.; Ruaud, Lyse Share Save
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals Sabbagh, Quentin; Haghshenas, Sadegheh; Piard, Juliette; Trouve, Chloe; Amiel, Jeanne; Attie-Bitach, Tania; Balci, Tugce; Barat-Houari, Mouna; Belonis, Alyce; Boute, Odile; Brightman, Diana S.; Bruel, Ange-Line; Caraffi, Stefano Giuseppe; Chatron, Nicolas; Collet, Corinne; Dufour, William; Edery, Patrick; Fong, Chin-To; Fusco, Carlo; Gatinois, Vincent; Gouy, Evan; Guerrot, Anne-Marie; Heide, Solveig; Joshi, Aakash; Karp, Natalya; Keren, Boris; Lesieur-Sebellin, Marion; Levy, Jonathan; Levy, Michael A.; Lozano, Claire; Lyonnet, Stanislas; Margot, Henri; Marzin, Pauline; Mcconkey, Haley; Michaud, Vincent; Nicolas, Gael; Nizard, Mevyn; Paulet, Alix; Peluso, Francesca; Pernin, Vincent; Perrin, Laurence; Philippe, Christophe; Prasad, Chitra; Prasad, Madhavi; Relator, Raissa; Rio, Marlene; Rondeau, Sophie; Ruault, Valentin; Ruiz-Pallares, Nathalie; Sanchez, Elodie; Shears, Debbie; Siu, Victoria Mok; Sorlin, Arthur; Tedder, Matthew; Tharreau, Mylene; Mau-Them, Frederic Tran; Laan, Liselot van der; Van Gils, Julien; Verloes, Alain; Whalen, Sandra; Willems, Marjolaine; Yauy, Kevin; Zuntini, Roberta; Kerkhof, Jennifer; Sadikovic, Bekim; Genevieve, David Share Save
Expanding the phenotype of GTF2E2-associated trichothiodystrophy Sperelakis-Beedham, Brian; Ruaud, Lyse; Vial, Yoann; Rachid, Myriam; Ageorges, Faustine; Goujon, Louise; Verloes, Alain; Tabet, Anne-Claude; Bourrat, Emmanuelle; Levy, Jonathan Share Save
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder (vol 13, 7002, 2022) de Thonel, Aurelie; Ahlskog, Johanna K.; Daupin, Kevin; Dubreuil, Veronique; Berthelet, Jeremy; Chaput, Carole; Pires, Geoffrey; Leonetti, Camille; Abane, Ryma; Barris, Lluis Cordon; Leray, Isabelle; Aalto, Anna L.; Naceri, Sarah; Cordonnier, Marine; Benasolo, Carene; Sanial, Matthieu; Duchateau, Agathe; Vihervaara, Anniina; Puustinen, Mikael C.; Miozzo, Federico; Fergelot, Patricia; Lebigot, Elise; Verloes, Alain; Gressens, Pierre; Lacombe, Didier; Gobbo, Jessica; Garrido, Carmen; Westerheide, Sandy D.; David, Laurent; Petitjean, Michel; Taboureau, Olivier; Rodrigues-Lima, Fernando; Passemard, Sandrine; Saberan-Djoneidi, Delara; Nguyen, Laurent; Lancaster, Madeline; Sistonen, Lea; Mezger, Valerie Share Save
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Denomme-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marcais, Nolwenn; Kleefstra, Tjitske; Lopez-Martin, Estrella; Macek, Milan, Jr.; Mencarelli, Maria Antonietta; Moutton, Sebastien; Pfundt, Rolph; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Safraou, Hana; Schwarz, Martin; Tartaglia, Marco; Thauvin-Robinet, Christel; Thevenon, Julien; Mau-Them, Frederic Tran; Trimouille, Aurelien; Votypka, Pavel; Vries, Bert B. A. de; Willemsen, Marjolein H.; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Vitobello, Antonio; Vissers, Lisenka E. L. M.; Faivre, Laurence Share Save
Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome Unda, Brianna K.; Chalil, Leon; Yoon, Sehyoun; Kilpatrick, Savannah; Irwin, Courtney; Xing, Sansi; Murtaza, Nadeem; Cheng, Anran; Brown, Chad; Afonso, Alexandria; McCready, Elizabeth; Ronen, Gabriel M.; Howe, Jennifer; Caye-Eude, Aurelie; Verloes, Alain; Doble, Brad W.; Faivre, Laurence; Vitobello, Antonio; Scherer, Stephen W.; Lu, Yu; Penzes, Peter; Singh, Karun K. Share Save
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort Garret, Philippine; Chevarin, Martin; Vitobello, Antonio; Verdez, Simon; Fournier, Cyril; Verloes, Alain; Tisserant, Emilie; Vabres, Pierre; Prevel, Orlane; Philippe, Christophe; Denomme-Pichon, Anne-Sophie; Bruel, Ange-Line; Mau-Them, Frederic Tran; Safraou, Hana; Boughalem, Aicha; Costa, Jean-Marc; Trost, Detlef; Thauvin-Robinet, Christel; Faivre, Laurence; Duffourd, Yannis Share Save
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder de Thonel, Aurelie; Ahlskog, Johanna K.; Daupin, Kevin; Dubreuil, Veronique; Berthelet, Jeremy; Chaput, Carole; Pires, Geoffrey; Leonetti, Camille; Abane, Ryma; Barris, Lluis Cordon; Leray, Isabelle; Aalto, Anna L.; Naceri, Sarah; Cordonnier, Marine; Benasolo, Carene; Sanial, Matthieu; Duchateau, Agathe; Vihervaara, Anniina; Puustinen, Mikael C.; Miozzo, Federico; Fergelot, Patricia; Lebigot, Elise; Verloes, Alain; Gressens, Pierre; Lacombe, Didier; Gobbo, Jessica; Garrido, Carmen; Westerheide, Sandy D.; David, Laurent; Petitjean, Michel; Taboureau, Olivier; Rodrigues-Lima, Fernando; Passemard, Sandrine; Saberan-Djoneidi, Delara; Nguyen, Laurent; Lancaster, Madeline; Sistonen, Lea; Mezger, Valerie Share Save
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families Benkirane, Mehdi; Marelli, Cecilia; Guissart, Claire; Roubertie, Agathe; Ollagnon, Elizabeth; Choumert, Ariane; Fluchere, Frederique; Magne, Fabienne Ory; Halleb, Yosra; Renaud, Mathilde; Larrieu, Lise; Baux, David; Patat, Olivier; Bousquet, Idriss; Ravel, Jean-Marie; Cuntz-Shadfar, Danielle; Sarret, Catherine; Ayrignac, Xavier; Rolland, Anne; Morales, Raoul; Pointaux, Morgane; Lieutard-Haag, Cathy; Laurens, Brice; Tillikete, Caroline; Bernard, Emilien; Mallaret, Martial; Carra-Dalliere, Clarisse; Tranchant, Christine; Meyer, Pierre; Damaj, Lena; Pasquier, Laurent; Acquaviva, Cecile; Chaussenot, Annabelle; Isidor, Bertrand; Nguyen, Karine; Camu, William; Eusebio, Alexandre; Carriere, Nicolas; Riquet, Audrey; Thouvenot, Eric; Gonzales, Victoria; Carme, Emilie; Attarian, Shahram; Odent, Sylvie; Castrioto, Anna; Ewenczyk, Claire; Charles, Perrine; Kremer, Laurent; Sissaoui, Samira; Bahi-buisson, Nadia; Kaphan, Elsa; Degardin, Adrian; Doray, Berenice; Julia, Sophie; Remerand, Ganaelle; Fraix, Valerie; Haidar, Lydia Abou; Lazaro, Leila; Laugel, Vincent; Villega, Frederic; Charlin, Cyril; Frismand, Solene; Moreira, Marinha Costa; Witjas, Tatiana; Francannet, Christine; Walther-Louvier, Ulrike; Fradin, Melanie; Chabrol, Brigitte; Fluss, Joel; Bieth, Eric; Castelnovo, Giovanni; Vergnet, Sylvain; Meunier, Isabelle; Verloes, Alain; Brischoux-Boucher, Elise; Coubes, Christine; Genevieve, David; Lebouc, Nicolas; Azulay, Jean Phillipe; Anheim, Mathieu; Goizet, Cyril; Rivier, Francois; Labauge, Pierre; Calvas, Patrick; Koenig, Michel Share Save
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Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases (Jun, 10.1038/s41431-021-00859-0, 2021) Zurek, Birte; Ellwanger, Kornelia; Vissers, Lisenka E. L. M.; Schule, Rebecca; Synofzik, Matthis; Topf, Ana; de Voer, Richarda M.; Laurie, Steven; Matalonga, Leslie; Gilissen, Christian; Ossowski, Stephan; 't Hoen, Peter A. C.; Vitobello, Antonio; Schulze-Hentrich, Julia M.; Riess, Olaf; Brunner, Han G.; Brookes, Anthony J.; Rath, Ana; Bonne, Gisele; Gumus, Gulcin; Verloes, Alain; Hoogerbrugge, Nicoline; Evangelista, Teresinha; Harmuth, Tina; Swertz, Morris; Spalding, Dylan; Hoischen, Alexander; Beltran, Sergi; Graessner, Holm Share Save
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