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

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders

剪接因子基因SF3B1的新生变异与神经发育障碍相关。

Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie-Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H; Glass, Ian A; Ward, Scott; Campeau, Philippe M; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G; Lupski, James R; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia

短读长全基因组测序可识别出大多数先前无法解释的无虹膜症患者的致病变异。

Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E; Bitoun, Pierre; Kirk, Edwin P; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; FitzPatrick, David R; Meynert, Alison

Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.

双等位基因 ANGPT2 功能丧失会导致严重的早发性非免疫性胎儿水肿

Smeland Marie F, Brouillard Pascal, Prescott Trine, Boon Laurence M, Hvingel Bodil, Nordbakken Cecilie V, Nystad Mona, Holla Øystein L, Vikkula Miikka

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating

与全面发育迟缓相关的KCND2变异体对Kv4.2通道门控的损害程度不同。

Zhang, Yongqiang; Tachtsidis, Georgios; Schob, Claudia; Koko, Mahmoud; Hedrich, Ulrike B S; Lerche, Holger; Lemke, Johannes R; van Haeringen, Arie; Ruivenkamp, Claudia; Prescott, Trine; Tveten, Kristian; Gerstner, Thorsten; Pruniski, Brianna; DiTroia, Stephanie; VanNoy, Grace E; Rehm, Heidi L; McLaughlin, Heather; Bolz, Hanno J; Zechner, Ulrich; Bryant, Emily; McDonough, Tiffani; Kindler, Stefan; Bähring, Robert

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

由双等位基因POLR1C致病变异引起的POLR3相关脑白质营养不良的临床谱

Gauquelin, Laurence; Cayami, Ferdy K; Sztriha, László; Yoon, Grace; Tran, Luan T; Guerrero, Kether; Hocke, François; van Spaendonk, Rosalina M L; Fung, Eva L; D'Arrigo, Stefano; Vasco, Gessica; Thiffault, Isabelle; Niyazov, Dmitriy M; Person, Richard; Lewis, Kara Stuart; Wassmer, Evangeline; Prescott, Trine; Fallon, Penny; McEntagart, Meriel; Rankin, Julia; Webster, Richard; Philippi, Heike; van de Warrenburg, Bart; Timmann, Dagmar; Dixit, Abhijit; Searle, Claire; Thakur, Nivedita; Kruer, Michael C; Sharma, Suvasini; Vanderver, Adeline; Tonduti, Davide; van der Knaap, Marjo S; Bertini, Enrico; Goizet, Cyril; Fribourg, Sébastien; Wolf, Nicole I; Bernard, Geneviève

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

原发性免疫缺陷病:基因组学方法揭示异质性孟德尔遗传病

Stray-Pedersen, Asbjørg; Sorte, Hanne Sørmo; Samarakoon, Pubudu; Gambin, Tomasz; Chinn, Ivan K; Coban Akdemir, Zeynep H; Erichsen, Hans Christian; Forbes, Lisa R; Gu, Shen; Yuan, Bo; Jhangiani, Shalini N; Muzny, Donna M; Rødningen, Olaug Kristin; Sheng, Ying; Nicholas, Sarah K; Noroski, Lenora M; Seeborg, Filiz O; Davis, Carla M; Canter, Debra L; Mace, Emily M; Vece, Timothy J; Allen, Carl E; Abhyankar, Harshal A; Boone, Philip M; Beck, Christine R; Wiszniewski, Wojciech; Fevang, Børre; Aukrust, Pål; Tjønnfjord, Geir E; Gedde-Dahl, Tobias; Hjorth-Hansen, Henrik; Dybedal, Ingunn; Nordøy, Ingvild; Jørgensen, Silje F; Abrahamsen, Tore G; Øverland, Torstein; Bechensteen, Anne Grete; Skogen, Vegard; Osnes, Liv T N; Kulseth, Mari Ann; Prescott, Trine E; Rustad, Cecilie F; Heimdal, Ketil R; Belmont, John W; Rider, Nicholas L; Chinen, Javier; Cao, Tram N; Smith, Eric A; Caldirola, Maria Soledad; Bezrodnik, Liliana; Lugo Reyes, Saul Oswaldo; Espinosa Rosales, Francisco J; Guerrero-Cursaru, Nina Denisse; Pedroza, Luis Alberto; Poli, Cecilia M; Franco, Jose L; Trujillo Vargas, Claudia M; Aldave Becerra, Juan Carlos; Wright, Nicola; Issekutz, Thomas B; Issekutz, Andrew C; Abbott, Jordan; Caldwell, Jason W; Bayer, Diana K; Chan, Alice Y; Aiuti, Alessandro; Cancrini, Caterina; Holmberg, Eva; West, Christina; Burstedt, Magnus; Karaca, Ender; Yesil, Gözde; Artac, Hasibe; Bayram, Yavuz; Atik, Mehmed Musa; Eldomery, Mohammad K; Ehlayel, Mohammad S; Jolles, Stephen; Flatø, Berit; Bertuch, Alison A; Hanson, I Celine; Zhang, Victor W; Wong, Lee-Jun; Hu, Jianhong; Walkiewicz, Magdalena; Yang, Yaping; Eng, Christine M; Boerwinkle, Eric; Gibbs, Richard A; Shearer, William T; Lyle, Robert; Orange, Jordan S; Lupski, James R

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

ITPR1基因中特定类型的新生突变会导致吉莱斯皮综合征,并有证据表明其具有显性负效应。

McEntagart, Meriel; Williamson, Kathleen A; Rainger, Jacqueline K; Wheeler, Ann; Seawright, Anne; De Baere, Elfride; Verdin, Hannah; Bergendahl, L Therese; Quigley, Alan; Rainger, Joe; Dixit, Abhijit; Sarkar, Ajoy; López Laso, Eduardo; Sanchez-Carpintero, Rocio; Barrio, Jesus; Bitoun, Pierre; Prescott, Trine; Riise, Ruth; McKee, Shane; Cook, Jackie; McKie, Lisa; Ceulemans, Berten; Meire, Françoise; Temple, I Karen; Prieur, Fabienne; Williams, Jonathan; Clouston, Penny; Németh, Andrea H; Banka, Siddharth; Bengani, Hemant; Handley, Mark; Freyer, Elisabeth; Ross, Allyson; van Heyningen, Veronica; Marsh, Joseph A; Elmslie, Frances; FitzPatrick, David R

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

UNC80 的双等位基因突变会导致持续性肌张力低下、脑病、生长迟缓和严重智力障碍

Stray-Pedersen Asbjørg, Cobben Jan-Maarten, Prescott Trine E, Lee Sora, Cang Chunlei, Aranda Kimberly, Ahmed Sohnee, Alders Marielle, Gerstner Thorsten, Aslaksen Kathinka, Tétreault Martine, Qin Wen, Hartley Taila, Jhangiani Shalini N, Muzny Donna M, Tarailo-Graovac Maja, van Karnebeek Clara D M, Lupski James R, Ren Dejian, Yoon Grace

Syndromic X-linked intellectual disability segregating with a missense variant in RLIM

与RLIM基因错义变异相关的X连锁综合征型智力障碍

Tønne, Elin; Holdhus, Rita; Stansberg, Christine; Stray-Pedersen, Asbjørg; Petersen, Kjell; Brunner, Han G; Gilissen, Christian; Hoischen, Alexander; Prescott, Trine; Steen, Vidar M; Fiskerstrand, Torunn

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations

MAB21L2基因的单等位基因和双等位基因突变会导致一系列严重的眼部畸形。

Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Jürgen; Horn, Denise; Meynert, Alison; Floyd, James A B; Prescott, Trine; Anderson, Carl A; Rainger, Jacqueline K; Karaca, Ender; Gonzaga-Jauregui, Claudia; Jhangiani, Shalini; Muzny, Donna M; Seawright, Anne; Soares, Dinesh C; Kharbanda, Mira; Murday, Victoria; Finch, Andrew; Gibbs, Richard A; van Heyningen, Veronica; Taylor, Martin S; Yakut, Tahsin; Knappskog, Per M; Hurles, Matthew E; Ponting, Chris P; Lupski, James R; Houge, Gunnar; FitzPatrick, David R