日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Telethon 未确诊疾病项目:以结构化方法解决罕见的儿童期发病遗传疾病

Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Castello, Raffaele; Zanobio, Mariateresa; Piluso, Giulio; Di Letto, Pasquale; Onore, Maria Elena; Rahman, Sarah Iffat; Musacchia, Francesco; Pinelli, Michele; Vitiello, Giuseppina; De Riso, Giulia; Selicorni, Angelo; Mariani, Milena; Daolio, Cecilia; Capra, Valeria; Scala, Marcello; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Manti, Filippo; Milani, Donatella; Romano, Corrado; Greco, Donatella; Ciaccio, Claudia; D'Arrigo, Stefano; De Laurentiis, Arianna; Coppola, Antonietta; Zollino, Marcella; Pasquetti, Domizia; L'Erario, Federica Francesca; Tummolo, Albina; Santoro, Claudia; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Tirozzi, Alfonsina; Cetrangolo, Viviana; Parenti, Giancarlo; Di Bernardo, Diego; Peron, Angela; Maitz, Silvia; Accogli, Andrea; Cappuccio, Gerarda; Banfi, Sandro; Casari, Giorgio; Ballabio, Andrea; Brunetti-Pierri, Nicola; Nigro, Vincenzo

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

TMEM184B 的致病性变异会导致一种与代谢信号改变相关的神经发育综合征。

Chapman, Kimberly A; Ullah, Farid; Yahiku, Zachary A; Khan, Sheraz; Kodiparthi, Sri Varsha; Kellaris, Georgios; White, Hazel G; Powell, Andrew T; Correia, Sandrina P; Stödberg, Tommy; Sofocleous, Christalena; Marinakis, Nikolaos M; Fryssira, Helena; Tsoutsou, Eirini; Traeger-Synodinos, Jan; Accogli, Andrea; Sciruicchio, Vittorio; Salpietro, Vincenzo; Striano, Pasquale; Muss, Candace; Keren, Boris; Heron, Delphine; Berger, Seth I; Pond, Kelvin W; Sirimulla, Suman; Davis, Erica E; Bhattacharya, Martha R C

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina

A mutational hotspot in TUBB2A associated with impaired heterodimer formation and severe brain developmental disorders

TUBB2A基因中的一个突变热点与异二聚体形成受损和严重的脑发育障碍有关

Di Pasquale, Gabriele; Colella, Jacopo; Di Cataldo, Carola P; Soler, Miguel A; Fortuna, Sara; Mizrahi-Powell, Emma; Nizon, Mathilde; Cognè, Benjamin; Turchetti, Valentina; Mangano, Giuseppe D; Comisi, Francesco F; Cecchetti, Corrado; Giliberti, Alessandra; Nardello, Rosaria; Pavone, Piero; Falsaperla, Raffaele; Di Rosa, Gabriella; Evrony, Gilad D; Delvecchio, Maurizio; Severino, Mariasavina; Accogli, Andrea; Vittori, Alessandro; Salpietro, Vincenzo

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

翻译GTP酶GTPBP1和GTPBP2的双等位基因变异会导致一种独特的、相同的神经发育综合征。

Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G; Abdel-Hamid, Mohamed S; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y; Elbendary, Hasnaa M; Rafat, Karima; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K; Green, Rachel; Alkuraya, Fowzan S; Jepson, James E C; Houlden, Henry

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity

KCND1变异体与X连锁神经发育障碍的病因学关联,该障碍具有可变表达性

Kalm, Tassja; Schob, Claudia; Völler, Hanna; Gardeitchik, Thatjana; Gilissen, Christian; Pfundt, Rolph; Klöckner, Chiara; Platzer, Konrad; Klabunde-Cherwon, Annick; Ries, Markus; Syrbe, Steffen; Beccaria, Francesca; Madia, Francesca; Scala, Marcello; Zara, Federico; Hofstede, Floris; Simon, Marleen E H; van Jaarsveld, Richard H; Oegema, Renske; van Gassen, Koen L I; Holwerda, Sjoerd J B; Barakat, Tahsin Stefan; Bouman, Arjan; van Slegtenhorst, Marjon; Álvarez, Sara; Fernández-Jaén, Alberto; Porta, Javier; Accogli, Andrea; Mancardi, Margherita Maria; Striano, Pasquale; Iacomino, Michele; Chae, Jong-Hee; Jang, SeSong; Kim, Soo Y; Chitayat, David; Mercimek-Andrews, Saadet; Depienne, Christel; Kampmeier, Antje; Kuechler, Alma; Surowy, Harald; Bertini, Enrico Silvio; Radio, Francesca Clementina; Mancini, Cecilia; Pizzi, Simone; Tartaglia, Marco; Gauthier, Lucas; Genevieve, David; Tharreau, Mylène; Azoulay, Noy; Zaks-Hoffer, Gal; Gilad, Nesia K; Orenstein, Naama; Bernard, Geneviève; Thiffault, Isabelle; Denecke, Jonas; Herget, Theresia; Kortüm, Fanny; Kubisch, Christian; Bähring, Robert; Kindler, Stefan

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

FRYL基因的新生突变与发育迟缓、智力障碍和面部畸形有关。

Pan, Xueyang; Tao, Alice M; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B; Slaugh, Rachel; Drewes Williams, Sarah; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E; Newburger, Jane W; Revah-Politi, Anya; Granadillo, Jorge L; Stegmann, Alexander P A; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E H; Sweetser, David A; Glinton, Kevin E; Kirk, Susan E; Wangler, Michael F; Yamamoto, Shinya; Chung, Wendy K; Bellen, Hugo J

Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

KCNB2单等位基因变异会导致由通道失活改变引起的神经发育综合征。

Bhat, Shreyas; Rousseau, Justine; Michaud, Coralie; Lourenço, Charles Marques; Stoler, Joan M; Louie, Raymond J; Clarkson, Lola K; Lichty, Angie; Koboldt, Daniel C; Reshmi, Shalini C; Sisodiya, Sanjay M; Hoytema van Konijnenburg, Eva M M; Koop, Klaas; van Hasselt, Peter M; Démurger, Florence; Dubourg, Christèle; Sullivan, Bonnie R; Hughes, Susan S; Thiffault, Isabelle; Tremblay, Elisabeth Simard; Accogli, Andrea; Srour, Myriam; Blunck, Rikard; Campeau, Philippe M

Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities

CACHD1基因的双等位基因功能缺失变异会导致一种新型神经发育综合征,伴有面部畸形和多系统先天性异常。

Scala, Marcello; Khan, Kamal; Beneteau, Claire; Fox, Rachel G; von Hardenberg, Sandra; Khan, Ayaz; Joubert, Madeleine; Fievet, Lorraine; Musquer, Marie; Le Vaillant, Claudine; Holsclaw, Julie Korda; Lim, Derek; Berking, Ann-Cathrine; Accogli, Andrea; Giacomini, Thea; Nobili, Lino; Striano, Pasquale; Zara, Federico; Torella, Annalaura; Nigro, Vincenzo; Cogné, Benjamin; Salick, Max R; Kaykas, Ajamete; Eggan, Kevin; Capra, Valeria; Bézieau, Stéphane; Davis, Erica E; Wells, Michael F

A second hotspot for pathogenic exon-skipping variants in CDC45

CDC45基因中致病性外显子跳跃变异的第二个热点区域

Schoch, Kelly; Ruegg, Mischa S G; Fellows, Bridget J; Cao, Joseph; Uhrig, Sabine; Einsele-Scholz, Stephanie; Biskup, Saskia; Hawarden, Samuel R A; Salpietro, Vincenzo; Capra, Valeria; Brown, Chris M; Accogli, Andrea; Shashi, Vandana; Bicknell, Louise S