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From Fusion to Function: Clinical Insights and Therapeutic Strategies in Syngnathia Ombashi, Saranda; Wagemans, Jop C. G.; Van Roey, Victor R.; Amiel, Jeanne; Galliani, Eva; Khonsari, Roman H.; Vallejo, Victor Zafra; Krimmel, Michael; Dowgierd, Krzysztof; Wolvius, Eppo B. Share Save
Evaluation of a New Inclusive Next-Generation Synthetic Face Tool for Dysmorphology Benichou, Ludovic; Breton, Luan; Garcelon, Nicolas; Benichou, Benjamin; Lienhard, Olivier; Amiel, Jeanne; Bongibault, Thomas; Hidalgo, Ana-julia Bravo; Cormier-Daire, Valerie; Lyonnet, Stanislas; Picard, Arnaud; Rio, Marlene; Zaiter, Ahmed; Khonsari, Roman H.; Hennocq, Quentin Share Save
Rare features in Feingold syndrome type 1 Ferroul, Fanny; Snanoudj, Sarah; Leterme, Gaelle; Mezouaghi, Kheira; Kieffer-Traversier, Marie; Celse, Tristan; Dospeux, Jessica; Huby, Thomas; Marzin, Pauline; Morel, Godelieve; Payet, Frederique; Remy, Mathilde; Sennsfelder, Laetitia; Spondenkiewicz, Marta; Roy-Doray, Berenice; Amiel, Jeanne; Pingault, Veronique; Alessandri, Jean-Luc Share Save
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Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics Mak, Christopher C. Y.; Klinkhammer, Hannah; Choufani, Sanaa; Reko, Nikola; Christman, Angela K.; Pisan, Elise; Chui, Martin M. C.; Lee, Mianne; Leduc, Fiona; Dempsey, Jennifer C.; Sanchez-Lara, Pedro A.; Bombei, Hannah M.; Bernat, John A.; Faivre, Laurence; Mau-Them, Frederic Tran; Palafoll, Irene Valenzuela; Canham, Natalie; Sarkar, Ajoy; Zarate, Yuri A.; Callewaert, Bert; Bukowska-Olech, Ewelina; Jamsheer, Aleksander; Zankl, Andreas; Willems, Marjolaine; Duncan, Laura; Isidor, Bertrand; Cogne, Benjamin; Boute, Odile; Vanlerberghe, Clemence; Goldenberg, Alice; Stolerman, Elliot; Low, Karen J.; Gilard, Vianney; Amiel, Jeanne; Lin, Angela E.; Gordon, Christopher T.; Doherty, Dan; Krawitz, Peter M.; Weksberg, Rosanna; Hsieh, Tzung-Chien; Chung, Brian H. Y. Share Save
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations Guillouet, Charlotte; Agostini, Valeria; Baujat, Genevieve; Cocciadiferro, Dario; Pippucci, Tommaso; Lesieur-Sebellin, Marion; Georget, Mathieu; Schatz, Ulrich; Fauth, Christine; Louie, Raymond J.; Rogers, Curtis; Davis, Jessica M.; Konstantopoulou, Vassiliki; Mayr, Johannes A.; Bouman, Arjan; Wilke, Martina; VanNoy, Grace E.; England, Eleina M.; Park, Kristen L.; Brown, Kathleen; Saenz, Margarita; Novelli, Antonio; Digilio, Maria Cristina; Mastromoro, Gioia; Rongioletti, Mauro Ciro Antonio; Piacentini, Gerardo; Kaiyrzhanov, Rauan; Guliyeva, Sughra; Hasanova, Lala; Shears, Deborah; Bhatnagar, Ishita; Stals, Karen; Klaas, Oliver; Horvath, Judit; Bouvagnet, Patrice; Witmer, P. Dane; MacCarrick, Gretchen; Cisarova, Katarina; Good, Jean-Marc; Gorokhova, Svetlana; Boute, Odile; Smol, Thomas; Bruel, Ange-Line; Patat, Olivier; Broadbent, Julia R.; Tan, Tiong Y.; Tan, Natalie B.; Lyonnet, Stanislas; Busa, Tiffany; Graziano, Claudio; Amiel, Jeanne; Gordon, Christopher T. Share Save
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study Cavadias, Iphigenie; Viaud, Magali; Falampin, Marie; Cheikhelard, Alaa; Gueniche, Karinne; Ouallouche, Chloe; Samara-Boustani, Dinane; Bonnet, Damien; Bahi-Buisson, Nadia; Quartier-dit-Maire, Pierre; Hadj-Rabia, Smail; Heidet, Laurence; Allali, Slimane; de Lonlay, Pascale; Amiel, Jeanne; Nabbout, Rima; Moshous, Despina; Cormier-Daire, Valerie; Picard, Arnaud; Desguerre, Isabelle; Sermet-Gaudelus, Isabelle; Pinto, Graziella; Bremond-Gignac, Dominique; Ruemmele, Frank; Girard, Muriel; Abadie, Veronique; James, Syril; Harroche, Annie; Polak, Michel; Da Costa, Sabrina Share Save
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND Qebibo, Leila; Davakan, Amael; Nesson-Dauphin, Mathilde; Boulali, Najlae; Siquier-Pernet, Karine; Afenjar, Alexandra; Amiel, Jeanne; Bartholdi, Deborah; Barth, Magalie; Blondiaux, Eleonore; Cristian, Ingrid; Frazier, Zoe; Goldenberg, Alice; Good, Jean-Marc; Salussolia, Catherine Lourdes; Sahin, Mustafa; McCullagh, Helen; McDonald, Kimberly; McRae, Anne; Morrison, Jennifer; Pinner, Jason; Shinawi, Marwan; Toutain, Annick; Vyhnalkova, Emilie; Wheeler, Patricia G.; Wilnai, Yael; Hausman-Kedem, Moran; Coolen, Marion; Cantagrel, Vincent; Burglen, Lydie; Lory, Philippe Share Save
CIROZ is dispensable in ancestral vertebrates but essential for left in humans Szenker-Ravi, Emmanuelle; Ott, Tim; Yusof, Amirah; Chopra, Maya; Khatoo, Muznah; Pak, Beatrice; Goh, Wei Xuan; Beckers, Anja; Brady, Angela F.; Ewans, Lisa J.; Djaziri, Nabila; Almontashiri, Naif A. M.; Alghamdi, Malak Ali; Alharby, Essa; Dasouki, Majed; Romo, Lindsay; Tan, Wen-Hann; Maddirevula, Sateesh; Alkuraya, Fowzan S.; Giordano, Jessica L.; Alkelai, Anna; Wapner, Ronald J.; Stals, Karen; Alfadhel, Majid; Alswaid, Abdulrahman Faiz; Bogusch, Susanne; Schafer-Kosulya, Anna; Vogel, Sebastian; Vick, Philipp; Schweickert, Axel; Wakeling, Matthew; Bellaing, Anne Moreau de; Alshamsi, Aisha M.; Sanlaville, Damien; Mbarek, Hamdi; Saad, Chadi; Ellard, Sian; Eisenhaber, Frank; Tripolszki, Kornelia; Beetz, Christian; Bauer, Peter; Gossler, Achim; Eisenhaber, Birgit; Blum, Martin; Bouvagnet, Patrice; Bertoli-Avella, Aida; Amiel, Jeanne; Gordon, Christopher T.; Reversade, Bruno Share Save
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations Jeanne, Mederic; Ronce, Nathalie; Remize, Solene; Arpin, Stephanie; Baujat, Genevieve; Breton, Sylvain; Petit, Florence; Vanlerberghe, Clemence; Coeslier-Dieux, Anne; Manouvrier-Hanu, Sylvie; Vincent-Delorme, Catherine; Khau Van Kien, Philippe; Van-Gils, Julien; Quelin, Chloe; Pasquier, Laurent; Odent, Sylvie; Demurger, Florence; Laffargue, Fanny; Francannet, Christine; Martin-Coignard, Dominique; Afenjar, Alexandra; Whalen, Sandra; Verloes, Alain; Capri, Yline; Delahaye, Andree; Plaisancie, Julie; Labrune, Philippe; Destree, Anne; Maystadt, Isabelle; Ciorna Monferrato, Viorca; Isidor, Bertrand; Vincent, Marie; Jean Marcais, Nolwen; Nambot, Sophie; Schaefer, Elise; El Chehadeh, Salima; Lespinasse, James; Collignon, Patrick; Busa, Tiffany; Philip, Nicole; Willems, Marjolaine; Planes, Marc; Vanakker, Olivier M.; Lambert, Laetitia; Leheup, Bruno; Mathieu-Dramard, Michele; Morin, Gilles; Dieterich, Klaus; Ginglinger, Emmanuelle; Bayat, Allan; Balasubramanian, Meena; Dauriat, Benjamin; Haye, Damien; Amiel, Jeanne; Rio, Marlene; Cormier-Daire, Valerie; Toutain, Annick Share Save
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment Zanetti, Andrea; Dujardin, Gwendal; Fares-Taie, Lucas; Amiel, Jeanne; Roger, Jerome E.; Audo, Isabelle; Robert, Matthieu P.; David, Pierre; Jung, Vincent; Goudin, Nicolas; Guerrera, Ida Chiara; Moriceau, Stephanie; Amana, Danielle; Assia Batzir, Nurit; Bachar-Zipori, Anat; Salmon, Lina Basel; Boddaert, Nathalie; Briault, Sylvain; Bruel, Ange-Line; Costet-Fighiera, Christine; Santos, Luisa Coutinho; Gitiaux, Cyril; Kaminska, Karolina; Kuentz, Paul; Orenstein, Naama; Philip-Sarles, Nicole; Plutino, Morgane; Quinodoz, Mathieu; Santos, Cristina; Sigaudy, Sabine; Soeiro e Sa, Mariana; Sofrin, Efrat; Sousa, Ana Berta; Sousa-Luis, Rui; Thauvin-Robinet, Christel; van Dijk, Erwin L.; Zaafrane-Khachnaoui, Khaoula; Zur, Dinah; Kaplan, Josseline; Rivolta, Carlo; Rozet, Jean-Michel; Perrault, Isabelle Share Save
Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum Pingault, Veronique; Neiva-Vaz, Cecilia; de Oliveira, Judite; Martinez-Gil, Nuria; Lasa-Aranzasti, Amaia; Campos, Berta; Lakeman, Inge M. M.; Nibbeling, Esther A. R.; Stoeva, Radka; Jayakar, Parul; Dabir, Tabib; Elloumi, Houda Zghal; Strong, Alanna; Hanein, Sylvain; Picard, Arnaud; Ochsenbein, Francoise; Blanc, Pierre; Amiel, Jeanne Share Save
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations Haghshenas, Sadegheh; Karimi, Karim; Stevenson, Roger E.; Levy, Michael A.; Relator, Raissa; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Lauzon-Young, Carolyn; Balci, Tugce B.; White-Brown, Alexandre M.; Carter, Melissa T.; Richer, Julie; Armour, Christine M.; Sawyer, Sarah L.; Bhola, Priya T.; Tedder, Matthew L.; Skinner, Cindy D.; van Rooij, Iris A. L. M.; van de Putte, Romy; de Blaauw, Ivo; Koeck, Rebekka M.; Hoischen, Alexander; Brunner, Han; Esteki, Masoud Zamani; Pelet, Anna; Lyonnet, Stanislas; Amiel, Jeanne; Boycott, Kym M.; Sadikovic, Bekim Share Save
Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome Hannes, Laurens; Atzori, Marta; Goldenberg, Alice; Argente, Jesus; Attie-Bitach, Tania; Amiel, Jeanne; Attanasio, Catia; Braslavsky, Debora G.; Bruel, Ange-Line; Castanet, Mireille; Dubourg, Christele; Jacobs, An; Lyonnet, Stanislas; Martinez-Mayer, Julian; Millan, Maria Ines Perez; Pezzella, Nunziana; Pelgrims, Elise; Aerden, Mio; Bauters, Marijke; Rochtus, Anne; Scaglia, Paula; Swillen, Ann; Sifrim, Alejandro; Tammaro, Roberta; Mau-Them, Frederic Tran; Odent, Sylvie; Thauvin-Robinet, Christel; Franco, Brunella; Breckpot, Jeroen Share Save
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome Pisan, Elise; De Luca, Chiara; Brancati, Francesco; Russo, Rossana Sanchez; Li, Dong; Bhoj, Elizabeth; Wenger, Tara; Marwaha, Ashish; Johnson, Nicole; Beneteau, Claire; Brischoux -Boucher, Elise; Houge, Gunnar; Paulsen, Julie; Hammer, Trine Bjorg; Ek, Jakob; Schweitzer, Daniela; Russell, Bianca E.; Dutra-Clarke, Marina; Nelson, Stanley; Douine, Emilie D.; Corona, Rosario I.; Dudding, Tracy; Thomson, Hannah; Low, Karen; Belnap, Newell; Iascone, Maria; Priolo, Manuela; Carli, Diana; Mussa, Alessandro; Bijlsma, Emilia K.; Kopp, Nathan; Jais, Jean-Philippe; Amiel, Jeanne; Gordona, Christopher T. Share Save
TREX tetramer disruption alters RNA processing necessary for corticogenesis in THOC6 Intellectual Disability Syndrome Werren, Elizabeth A.; Laforce, Geneva R.; Srivastava, Anshika; Perillo, Delia R.; Li, Shaokun; Johnson, Katherine; Baris, Safa; Berger, Brandon; Regan, Samantha L.; Pfennig, Christian D.; de Munnik, Sonja; Pfundt, Rolph; Hebbar, Malavika; Jimenez-Heredia, Raul; Karakoc-Aydiner, Elif; Ozen, Ahmet; Dmytrus, Jasmin; Krolo, Ana; Corning, Ken; Prijoles, E. J.; Louie, Raymond J.; Lebel, Robert Roger; Le, Thuy-Linh; Amiel, Jeanne; Gordon, Christopher T.; Boztug, Kaan; Girisha, Katta M.; Shukla, Anju; Bielas, Stephanie L.; Schaffer, Ashleigh E. Share Save
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome Hennocq, Quentin; Willems, Marjolaine; Amiel, Jeanne; Arpin, Stephanie; Attie-Bitach, Tania; Bongibault, Thomas; Bouygues, Thomas; Cormier-Daire, Valerie; Corre, Pierre; Dieterich, Klaus; Douillet, Maxime; Feydy, Jean; Galliani, Eva; Giuliano, Fabienne; Lyonnet, Stanislas; Picard, Arnaud; Porntaveetus, Thantrira; Rio, Marlene; Rouxel, Flavien; Shotelersuk, Vorasuk; Toutain, Annick; Yauy, Kevin; Genevieve, David; Khonsari, Roman H.; Garcelon, Nicolas Share Save
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon Share Save
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