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

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

非孤立性法洛四联症(TOF+):外显子组测序效率和表型扩展

Volpi, Julia; Zhao, Xiaonan; Owen, Nichole; Evans, Tia; Holder-Espinasse, Muriel; Lahiri, Nayana; Sherlock, Eleanor; Poke, Gemma; Breckpot, Jeroen; Devriendt, Koen; Cools, Bjorn; Brusco, Alfredo; Ferrero, Giovanni Battista; Grosso, Enrico; Vasudevan, Pradeep; Loddo, Sara; Novelli, Antonio; Digilio, Maria Cristina; Engwerda, Aafke; Hitzert, Marrit; Male, Alison; Bownass, Lucy; Newbury-Ecob, Ruth; Miedzybrodzka, Zosia; Armstrong, Ruth; Lynch, Sally Ann; Houge, Gunnar; Xiong, Shiyi; Lalani, Seema R; Rosenfeld, Jill A; Luna, Pamela N; Shaw, Chad A; Scott, Daryl A

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

小核RNA基因RNU2-2的突变会导致严重的神经发育障碍,并伴有明显的癫痫症状。

Greene, Daniel; De Wispelaere, Koenraad; Lees, Jon; Codina-Solà, Marta; Jensson, Brynjar O; Hales, Emma; Katrinecz, Andrea; Nieto Molina, Esther; Pascoal, Sonia; Pfundt, Rolph; Schot, Rachel; Sevilla Porras, Marta; Sleutels, Frank; Valenzuela, Irene; Wijngaard, Robin; Arroyo Carrera, Ignacio; Atton, Giles; Casas-Alba, Didac; Donnelly, Deirdre; Duat Rodríguez, Anna; Fernández Garoz, Bárbara; Foulds, Nicola; García-Navas Núñez, Deyanira; González Alguacil, Elena; Jarvis, Joanna; Kant, Sarina G; Madrigal Bajo, Irene; Martinez-Monseny, Antonio F; McKee, Shane; Ortiz Cabrera, Nelmar Valentina; Rodríguez-Revenga Bodi, Laia; Sariego Jamardo, Andrea; Stefansson, Kari; Sulem, Patrick; Suri, Mohnish; Van Karnebeek, Clara; Vasudevan, Pradeep; Vega Pajares, Ana Isabel; Carracedo, Ángel; Engelen, Marc; Lapunzina, Pablo; Morgan, Natasha P; Morte, Beatriz; Rump, Patrick; Stirrups, Kathy; Tizzano, Eduardo F; Barakat, Tahsin Stefan; O'Donoghue, Michael; Pérez-Jurado, Luis Alberto; Freson, Kathleen; Mumford, Andrew D; Turro, Ernest

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

ITPR3 中的显性负性变异会损害 T 细胞 Ca2+ 动力学,导致联合免疫缺陷

Blanco Elena, Camps Carme, Bahal Sameer, Kerai Mohit D, Ferla Matteo P, Rochussen Adam M, Handel Adam E, Golwala Zainab M, Spiridou Goncalves Helena, Kricke Susanne, Klein Fabian, Zhang Fang, Zinghirino Federica, Evans Grace, Keane Thomas M, Lizot Sabrina, Kusters Maaike A A, Iro Mildred A, Patel Sanjay V, Morris Emma C, Burns Siobhan O, Radcliffe Ruth, Vasudevan Pradeep, Price Arthur, Gillham Olivia, Valdebenito Gabriel E, Stewart Grant S, Worth Austen, Adams Stuart P, Duchen Michael, André Isabelle, Adams David J, Santili Giorgia, Gilmour Kimberly C, Holländer Georg A, Davies E Graham, Taylor Jenny C, Griffiths Gillian M, Thrasher Adrian J, Dhalla Fatima, Kreins Alexandra Y

AB040. Subclinical myasthenia gravis after thymectomy: a 20-year retrospective cohort study

AB040. 胸腺切除术后亚临床重症肌无力:一项20年回顾性队列研究

Balasubramanian, Meena; Dingemans, Alexander J M; Albaba, Shadi; Richardson, Ruth; Yates, Thabo M; Cox, Helen; Douzgou, Sofia; Armstrong, Ruth; Sansbury, Francis H; Burke, Katherine B; Fry, Andrew E; Ragge, Nicola; Sharif, Saba; Foster, Alison; De Sandre-Giovannoli, Annachiara; Elouej, Sahar; Vasudevan, Pradeep; Mansour, Sahar; Wilson, Kate; Stewart, Helen; Heide, Solveig; Nava, Caroline; Keren, Boris; Demirdas, Serwet; Brooks, Alice S; Vincent, Marie; Isidor, Bertrand; Küry, Sebastien; Schouten, Meyke; Leenders, Erika; Chung, Wendy K; Haeringen, Arie van; Scheffner, Thomas; Debray, Francois-Guillaume; White, Susan M; Palafoll, Maria Irene Valenzuela; Pfundt, Rolph; Newbury-Ecob, Ruth; Kleefstra, Tjitske; Marcuse, Florit; Hoeijmakers, Janneke; Abdul Hamid, Myrurgia; Romeo, Jamie; Maessen, Jos; Peeters, Stephanie; Damoiseaux, Jan; Martinez, Pilar; Hochstenbag, Monique; De Baets, Marc

The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant

由罕见变异引起的糖原贮积症 IIIA 型女性妊娠的管理和临床结局

Puente-Ruiz, Nuria; Palaniappan, Saru; Woodall, Alison; Cooper, Robert; Terry, Allyson; Oldham, Andrew; Rousseau, Abigail; Campbell, Christopher; Vasudevan, Pradeep; Stepien, Karolina M

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

RNU4-2 snRNA 的新生变异会导致一种常见的神经发育综合征。

Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C; Ganesh, Vijay S; Ma, Jialan; Ellingford, Jamie M; Delage, Erwan; D'Souza, Elston N; Dong, Shan; Adams, David R; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E; Berger, Seth I; Bernstein, Jonathan A; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J; Burrage, Lindsay C; Chapman, Kimberly; Coman, David J; Compton, Alison G; Cunningham, Chloe A; D'Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C; Dias, Kerith-Rae; Elias, Ellen R; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L; Gallacher, Lyndon; Genetti, Casie A; Goriely, Anne; Grant, Christina L; Haack, Tobias; Higgs, Jenny E; Hinch, Anjali G; Hurles, Matthew E; Kuechler, Alma; Lachlan, Katherine L; Lalani, Seema R; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J; Liebelt, Jan E; Lindsay, Sarah; Lockhart, Paul J; Ma, Alan S; Macnamara, Ellen F; Mansour, Sahar; Maurer, Taylor M; Mendez, Hector R; Metcalfe, Kay; Montgomery, Stephen B; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O'Donoghue, Michael; O'Leary, Melanie; Palmer, Elizabeth E; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L; Reuter, Chloe M; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A; Sachdev, Rani; Shaw-Smith, Charles J; Simons, Cas; Sisodiya, Sanjay M; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S; Tan, Tiong Yang; Tan, Natalie B; Temple, Suzanna E L; Thorburn, David R; Tifft, Cynthia J; Uebergang, Eloise; VanNoy, Grace E; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H; Wedd, Laura; Wheeler, Matthew T; White, Susan M; Wojcik, Monica; Wolfe, Lynne A; Wolfenson, Zoe; Wright, Caroline F; Xiao, Changrui; Zocche, David; Rubenstein, John L; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G; Howson, Joanna M M; Sanders, Stephan J; O'Donnell-Luria, Anne; Whiffin, Nicola

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3

由PPFIA3基因罕见变异引起的综合征性神经发育障碍

Paul, Maimuna S; Michener, Sydney L; Pan, Hongling; Chan, Hiuling; Pfliger, Jessica M; Rosenfeld, Jill A; Lerma, Vanesa C; Tran, Alyssa; Longley, Megan A; Lewis, Richard A; Weisz-Hubshman, Monika; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Massingham, Lauren; Zech, Michael; Wagner, Matias; Engels, Hartmut; Cremer, Kirsten; Mangold, Elisabeth; Peters, Sophia; Trautmann, Jessica; Mester, Jessica L; Guillen Sacoto, Maria J; Person, Richard; McDonnell, Pamela P; Cohen, Stacey R; Lusk, Laina; Cohen, Ana S A; Le Pichon, Jean-Baptiste; Pastinen, Tomi; Zhou, Dihong; Engleman, Kendra; Racine, Caroline; Faivre, Laurence; Moutton, Sébastien; Denommé-Pichon, Anne-Sophie; Koh, Hyun Yong; Poduri, Annapurna; Bolton, Jeffrey; Knopp, Cordula; Julia Suh, Dong Sun; Maier, Andrea; Toosi, Mehran Beiraghi; Karimiani, Ehsan Ghayoor; Maroofian, Reza; Schaefer, Gerald Bradley; Ramakumaran, Vijayalakshmi; Vasudevan, Pradeep; Prasad, Chitra; Osmond, Matthew; Schuhmann, Sarah; Vasileiou, Georgia; Russ-Hall, Sophie; Scheffer, Ingrid E; Carvill, Gemma L; Mefford, Heather; Bacino, Carlos A; Lee, Brendan H; Chao, Hsiao-Tuan

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

对 EHMT1 变异体的全面分析拓宽了 Kleefstra 综合征的基因型-表型关联和分子机制。

Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

KMT2C基因的致病变异会导致一种不同于克利夫斯特拉综合征和歌舞伎综合征的神经发育障碍。

Rots, Dmitrijs; Choufani, Sanaa; Faundes, Victor; Dingemans, Alexander J M; Joss, Shelagh; Foulds, Nicola; Jones, Elizabeth A; Stewart, Sarah; Vasudevan, Pradeep; Dabir, Tabib; Park, Soo-Mi; Jewell, Rosalyn; Brown, Natasha; Pais, Lynn; Jacquemont, Sébastien; Jizi, Khadijé; Ravenswaaij-Arts, Conny M A van; Kroes, Hester Y; Stumpel, Constance T R M; Ockeloen, Charlotte W; Diets, Illja J; Nizon, Mathilde; Vincent, Marie; Cogné, Benjamin; Besnard, Thomas; Kambouris, Marios; Anderson, Emily; Zackai, Elaine H; McDougall, Carey; Donoghue, Sarah; O'Donnell-Luria, Anne; Valivullah, Zaheer; O'Leary, Melanie; Srivastava, Siddharth; Byers, Heather; Leslie, Nancy; Mazzola, Sarah; Tiller, George E; Vera, Moin; Shen, Joseph J; Boles, Richard; Jain, Vani; Brischoux-Boucher, Elise; Kinning, Esther; Simpson, Brittany N; Giltay, Jacques C; Harris, Jacqueline; Keren, Boris; Guimier, Anne; Marijon, Pierre; Vries, Bert B A de; Motter, Constance S; Mendelsohn, Bryce A; Coffino, Samantha; Gerkes, Erica H; Afenjar, Alexandra; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena; Delahaye-Duriez, Andree; Gooch, Catherine; Hendriks, Yvonne; Adams, Hieab; Thauvin-Robinet, Christel; Josephi-Taylor, Sarah; Bertoli, Marta; Parker, Michael J; Rutten, Julie W; Caluseriu, Oana; Vernon, Hilary J; Kaziyev, Jonah; Zhu, Jia; Kremen, Jessica; Frazier, Zoe; Osika, Hailey; Breault, David; Nair, Sreelata; Lewis, Suzanne M E; Ceroni, Fabiola; Viggiano, Marta; Posar, Annio; Brittain, Helen; Giovanna, Traficante; Giulia, Gori; Quteineh, Lina; Ha-Vinh Leuchter, Russia; Zonneveld-Huijssoon, Evelien; Mellado, Cecilia; Marey, Isabelle; Coudert, Alicia; Aracena Alvarez, Mariana Inés; Kennis, Milou G P; Bouman, Arianne; Roifman, Maian; Amorós Rodríguez, María Inmaculada; Ortigoza-Escobar, Juan Dario; Vernimmen, Vivian; Sinnema, Margje; Pfundt, Rolph; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Weksberg, Rosanna; Banka, Siddharth

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences

在英国开展全国性产前外显子组测序服务:一项探索医疗保健专业人员观点和经验的混合方法研究

Peter, Michelle; Mellis, Rhiannon; McInnes-Dean, Hannah; Daniel, Morgan; Walton, Holly; Fisher, Jane; Leeson-Beevers, Kerry; Allen, Stephanie; Baple, Emma L; Beleza-Meireles, Ana; Bertoli, Marta; Campbell, Jennifer; Canham, Natalie; Cilliers, Deirdre; Cobben, Jan; Eason, Jacqueline; Harrison, Victoria; Holder-Espinasse, Muriel; Male, Alison; Mansour, Sahar; McEwan, Alec; Park, Soo-Mi; Smith, Audrey; Stewart, Alison; Tapon, Dagmar; Vasudevan, Pradeep; Williams, Denise; Wu, Wing Han; Chitty, Lyn S; Hill, Melissa