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

FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature

FBXO22 缺陷是一种多效性综合征,表现为生长受限和多系统异常,并伴有独特的表观遗传特征。

Ramakrishna, Navin B; Mohamad Sahari, Umar Bin; Johmura, Yoshikazu; Ali, Nur Ain; Alghamdi, Malak; Bauer, Peter; Khan, Suliman; Ordoñez, Natalia; Ferreira, Mariana; Pinto Basto, Jorge; Alkuraya, Fowzan S; Faqeih, Eissa Ali; Mori, Mari; Almontashiri, Naif A M; Al Shamsi, Aisha; ElGhazali, Gehad; Abu Subieh, Hala; Al Ojaimi, Mode; El-Hattab, Ayman W; Said Al-Kindi, Said Ahmed; Alhashmi, Nadia; Alhabshan, Fahad; Al Saman, Abdulaziz; Tfayli, Hala; Arabi, Mariam; Khalifeh, Simone; Taylor, Alan; Alfadhel, Majid; Jain, Ruchi; Sinha, Shruti; Shenbagam, Shruti; Ramachandran, Revathy; Altunoğlu, Umut; Jacob, Anju; Thalange, Nandu; El Bejjani, Mireille; Perrin, Arnaud; Shin, Jay W; Al-Maawali, Almundher; Al-Shidhani, Azza; Al-Futaisi, Amna; Rabea, Fatma; Chekroun, Ikram; Almarri, Mohamed A; Ohta, Tomohiko; Nakanishi, Makoto; Alsheikh-Ali, Alawi; Ali, Fahad R; Bertoli-Avella, Aida M; Reversade, Bruno; Abou Tayoun, Ahmad

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

对来自不同人群的 29,745 名发育障碍患者的常染色体隐性编码变异进行联合分析

Chundru, V Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J; Danecek, Petr; Eberhardt, Ruth Y; Gardner, Eugene J; Malawsky, Daniel S; Wigdor, Emilie M; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F; Ólafsdóttir, Hildur; Guillen Sacoto, Maria J; Ayaz, Akif; Akbeyaz, Ismail Hakki; Türkdoğan, Dilşad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; McWalter, Kirsty; Sheridan, Eamonn; Firth, Helen V; Hurles, Matthew E; Samocha, Kaitlin E; Ustach, Vincent D; Martin, Hilary C

Novel CYCLIN-O pathogenic variants in a patient presenting with bronchiectasis secondary to reduced generation of multiple motile cilia

一名患者因多纤毛运动减少而继发支气管扩张,该患者携带新型细胞周期蛋白O致病变异。

Yap, Kim Hoong; Lim, Albert Yick Hou; Thomas, Biju; Bonnard, Carine; Szenker-Ravi, Emmanuelle; Chong, Yan Ling; Roy, Sudipto; Reversade, Bruno

Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity

全基因组关联研究荟萃分析揭示了异卵双胞胎中女性生育力的遗传调控机制

Mbarek, Hamdi; Gordon, Scott D; Duffy, David L; Hubers, Nikki; Mortlock, Sally; Beck, Jeffrey J; Hottenga, Jouke-Jan; Pool, René; Dolan, Conor V; Actkins, Ky'Era V; Gerring, Zachary F; Van Dongen, Jenny; Ehli, Erik A; Iacono, William G; Mcgue, Matt; Chasman, Daniel I; Gallagher, C Scott; Schilit, Samantha L P; Morton, Cynthia C; Paré, Guillaume; Willemsen, Gonneke; Whiteman, David C; Olsen, Catherine M; Derom, Catherine; Vlietinck, Robert; Gudbjartsson, Daniel; Cannon-Albright, Lisa; Krapohl, Eva; Plomin, Robert; Magnusson, Patrik K E; Pedersen, Nancy L; Hysi, Pirro; Mangino, Massimo; Spector, Timothy D; Palviainen, Teemu; Milaneschi, Yuri; Penninnx, Brenda W; Campos, Adrian I; Ong, Ken K; Perry, John R B; Lambalk, Cornelis B; Kaprio, Jaakko; Ólafsson, Ísleifur; Duroure, Karine; Revenu, Céline; Rentería, Miguel E; Yengo, Loic; Davis, Lea; Derks, Eske M; Medland, Sarah E; Stefansson, Hreinn; Stefansson, Kari; Del Bene, Filippo; Reversade, Bruno; Montgomery, Grant W; Boomsma, Dorret I; Martin, Nicholas G

Deep transcriptome profiling reveals limited conservation of A-to-I RNA editing in Xenopus

深度转录组分析揭示爪蟾中A-to-I RNA编辑的保守性有限

Nguyen, Tram Anh; Heng, Jia Wei Joel; Ng, Yan Ting; Sun, Rui; Fisher, Shira; Oguz, Gokce; Kaewsapsak, Pornchai; Xue, Shifeng; Reversade, Bruno; Ramasamy, Adaikalavan; Eisenberg, Eli; Tan, Meng How

Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect

出版商更正:体细胞遗传拯救种系核糖体组装缺陷

Tan, Shengjiang; Kermasson, Laëtitia; Hilcenko, Christine; Kargas, Vasileios; Traynor, David; Boukerrou, Ahmed Z; Escudero-Urquijo, Norberto; Faille, Alexandre; Bertrand, Alexis; Rossmann, Maxim; Goyenechea, Beatriz; Jin, Li; Moreil, Jonathan; Alibeu, Olivier; Beaupain, Blandine; Bôle-Feysot, Christine; Fumagalli, Stefano; Kaltenbach, Sophie; Martignoles, Jean-Alain; Masson, Cécile; Nitschké, Patrick; Parisot, Mélanie; Pouliet, Aurore; Radford-Weiss, Isabelle; Tores, Frédéric; de Villartay, Jean-Pierre; Zarhrate, Mohammed; Koh, Ai Ling; Phua, Kong Boo; Reversade, Bruno; Bond, Peter J; Bellanné-Chantelot, Christine; Callebaut, Isabelle; Delhommeau, François; Donadieu, Jean; Warren, Alan J; Revy, Patrick

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

TMEM147基因的双等位基因功能缺失变异会导致中度至重度智力障碍,伴有面部畸形和假性佩尔格-于埃综合征。

Thomas, Quentin; Motta, Marialetizia; Gautier, Thierry; Zaki, Maha S; Ciolfi, Andrea; Paccaud, Julien; Girodon, François; Boespflug-Tanguy, Odile; Besnard, Thomas; Kerkhof, Jennifer; McConkey, Haley; Masson, Aymeric; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Trochu, Eva; Vignard, Virginie; El It, Fatima; Rodan, Lance H; Alkhateeb, Mohammad Ayman; Jamra, Rami Abou; Duplomb, Laurence; Tisserant, Emilie; Duffourd, Yannis; Bruel, Ange-Line; Jackson, Adam; Banka, Siddharth; McEntagart, Meriel; Saggar, Anand; Gleeson, Joseph G; Sievert, David; Bae, Hyunwoo; Lee, Beom Hee; Kwon, Kisang; Seo, Go Hun; Lee, Hane; Saeed, Anjum; Anjum, Nadeem; Cheema, Huma; Alawbathani, Salem; Khan, Imran; Pinto-Basto, Jorge; Teoh, Joyce; Wong, Jasmine; Sahari, Umar Bin Mohamad; Houlden, Henry; Zhelcheska, Kristina; Pannetier, Melanie; Awad, Mona A; Lesieur-Sebellin, Marion; Barcia, Giulia; Amiel, Jeanne; Delanne, Julian; Philippe, Christophe; Faivre, Laurence; Odent, Sylvie; Bertoli-Avella, Aida; Thauvin, Christel; Sadikovic, Bekim; Reversade, Bruno; Maroofian, Reza; Govin, Jérôme; Tartaglia, Marco; Vitobello, Antonio

A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion

由Wnt分泌缺陷引起的人类多器官多效性疾病

Chai, Guoliang; Szenker-Ravi, Emmanuelle; Chung, Changuk; Li, Zhen; Wang, Lu; Khatoo, Muznah; Marshall, Trevor; Jiang, Nan; Yang, Xiaoxu; McEvoy-Venneri, Jennifer; Stanley, Valentina; Anzenberg, Paula; Lang, Nhi; Wazny, Vanessa; Yu, Jia; Virshup, David M; Nygaard, Rie; Mancia, Filippo; Merdzanic, Rijad; Toralles, Maria B P; Pitanga, Paula M L; Puri, Ratna D; Hernan, Rebecca; Chung, Wendy K; Bertoli-Avella, Aida M; Al-Sannaa, Nouriya; Zaki, Maha S; Willert, Karl; Reversade, Bruno; Gleeson, Joseph G

Identical twins carry a persistent epigenetic signature of early genome programming

同卵双胞胎携带早期基因组编程的持续性表观遗传特征。

van Dongen, Jenny; Gordon, Scott D; McRae, Allan F; Odintsova, Veronika V; Mbarek, Hamdi; Breeze, Charles E; Sugden, Karen; Lundgren, Sara; Castillo-Fernandez, Juan E; Hannon, Eilis; Moffitt, Terrie E; Hagenbeek, Fiona A; van Beijsterveldt, Catharina E M; Jan Hottenga, Jouke; Tsai, Pei-Chien; Min, Josine L; Hemani, Gibran; Ehli, Erik A; Paul, Franziska; Stern, Claudio D; Heijmans, Bastiaan T; Slagboom, P Eline; Daxinger, Lucia; van der Maarel, Silvère M; de Geus, Eco J C; Willemsen, Gonneke; Montgomery, Grant W; Reversade, Bruno; Ollikainen, Miina; Kaprio, Jaakko; Spector, Tim D; Bell, Jordana T; Mill, Jonathan; Caspi, Avshalom; Martin, Nicholas G; Boomsma, Dorret I

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

C2orf69 的缺失会导致人类和斑马鱼发生致命的自身炎症综合征,并引发与糖原储存相关的线粒体病。

Wong, Hui Hui; Seet, Sze Hwee; Maier, Michael; Gurel, Ayse; Traspas, Ricardo Moreno; Lee, Cheryl; Zhang, Shan; Talim, Beril; Loh, Abigail Y T; Chia, Crystal Y; Teoh, Tze Shin; Sng, Danielle; Rensvold, Jarred; Unal, Sule; Shishkova, Evgenia; Cepni, Ece; Nathan, Fatima M; Sirota, Fernanda L; Liang, Chao; Yarali, Nese; Simsek-Kiper, Pelin O; Mitani, Tadahiro; Ceylaner, Serdar; Arman-Bilir, Ozlem; Mbarek, Hamdi; Gumruk, Fatma; Efthymiou, Stephanie; Çïmen, Deniz Uğurlu; Georgiadou, Danai; Sotiropoulou, Kortessa; Houlden, Henry; Paul, Franziska; Pehlivan, Davut; Lainé, Candice; Chai, Guoliang; Ali, Nur Ain; Choo, Siew Chin; Keng, Soh Sok; Boisson, Bertrand; Yılmaz, Elanur; Xue, Shifeng; Coon, Joshua J; Nguyen Ly, Thanh Thao; Gilani, Naser; Hasbini, Dana; Kayserili, Hulya; Zaki, Maha S; Isfort, Robert J; Ordonez, Natalia; Tripolszki, Kornelia; Bauer, Peter; Rezaei, Nima; Seyedpour, Simin; Khotaei, Ghamar Taj; Bascom, Charles C; Maroofian, Reza; Chaabouni, Myriam; Alsubhi, Afaf; Eyaid, Wafaa; Işıkay, Sedat; Gleeson, Joseph G; Lupski, James R; Casanova, Jean-Laurent; Pagliarini, David J; Akarsu, Nurten A; Maurer-Stroh, Sebastian; Cetinkaya, Arda; Bertoli-Avella, Aida; Mathuru, Ajay S; Ho, Lena; Bard, Frederic A; Reversade, Bruno