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

Comprehensive genotype-phenotype analysis in POLR3-related disorders

POLR3相关疾病的综合基因型-表型分析

Michell-Robinson, Mackenzie A; Perrier, Stefanie; Gauthier, Samuel; Derksen, Alexa; Sabbagh, Quentin; Girbig, Mathias; Misiaszek, Agata D; Pizzino, Amy M; Renaud, Deborah L; De Assis Pereira, Danilo; Okuda, Paola; Karoleska, Luciana Maestri; Keller, Stephanie; Chong, Karen; Gauquelin, Laurence; Brais, Bernard; Leube, Barbara; Grider, Tiffany; Shy, Michael E; Schüle, Rebecca; Minnerop, Martina; Bertini, Enrico; Nicita, Francesco; Tonduti, Davide; Müller, Christoph W; Vanderver, Adeline; Wolf, Nicole I; Bernard, Geneviève

Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome

产前诊断的鲁宾斯坦-泰比综合征的脑部异常

Carmant, Laurence S; Miller, Elka; Blaser, Susan; Shannon, Patrick; Chong, Karen; Chitayat, David; Shinar, Shiri

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis

KIDINS220 变异与胼胝体发育不全和导水管狭窄相关

Ghannad-Zadeh, Kimia; Shannon, Patrick; Jobling, Rebekah; Miller, Elka; Chong, Karen; Mathews, Erin; Chitayat, David; Shinar, Shiri

Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome

枕部脑膨出、多小脑回畸形、眼部异常和小脑蚓部发育不良:诺布洛赫综合征的产前标志物

Carmant, Laurence Sophie; Miller, Elka; Chitayat, David; Hedges, Stephanie; McGivern, Bobbi; Harris, Kimberly; Chong, Karen; Shinar, Shiri

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

NADSYN1依赖性先天性NAD缺乏症的代谢特征

Szot, Justin O; Cuny, Hartmut; Martin, Ella Mma; Sheng, Delicia Z; Iyer, Kavitha; Portelli, Stephanie; Nguyen, Vivien; Gereis, Jessica M; Alankarage, Dimuthu; Chitayat, David; Chong, Karen; Wentzensen, Ingrid M; Vincent-Delormé, Catherine; Lermine, Alban; Burkitt-Wright, Emma; Ji, Weizhen; Jeffries, Lauren; Pais, Lynn S; Tan, Tiong Y; Pitt, James; Wise, Cheryl A; Wright, Helen; Andrews, Israel D; Pruniski, Brianna; Grebe, Theresa A; Corsten-Janssen, Nicole; Bouman, Katelijne; Poulton, Cathryn; Prakash, Supraja; Keren, Boris; Brown, Natasha J; Hunter, Matthew F; Heath, Oliver; Lakhani, Saquib A; McDermott, John H; Ascher, David B; Chapman, Gavin; Bozon, Kayleigh; Dunwoodie, Sally L

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

对逃脱无义介导衰变机制的变异体进行系统分析,揭示了候选孟德尔疾病

Torene, Rebecca I; Guillen Sacoto, Maria J; Millan, Francisca; Zhang, Zhancheng; McGee, Stephen; Oetjens, Matthew; Heise, Elizabeth; Chong, Karen; Sidlow, Richard; O'Grady, Lauren; Sahai, Inderneel; Martin, Christa L; Ledbetter, David H; Myers, Scott M; Mitchell, Kevin J; Retterer, Kyle

Specific T-cell subsets have a role in anti-viral immunity and pathogenesis but not viral dynamics or onwards vector transmission of an important livestock arbovirus.

特定的 T 细胞亚群在抗病毒免疫和发病机制中发挥作用,但对重要的家畜虫媒病毒的病毒动力学或后续媒介传播没有影响

Newbrook Kerry, Khan Nakibul, Fisher Aimee, Chong Karen, Gubbins Simon, Davies William C, Sanders Christopher, Busquets Marc GuimerÃ, Cooke Lyndsay, Corla Amanda, Ashby Martin, Flannery John, Batten Carrie, Stokes Jessica E, Sanz-Bernardo Beatriz, Carpenter Simon, Moffat Katy, Darpel Karin E

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis

单基因疾病与中枢神经系统异常:一项前瞻性研究、系统评价和荟萃分析

Blayney, Gillian V; Laffan, Eoghan; Jacob, Preethi A; Baptiste, Caitlin D; Gabriel, Heinz; Sparks, Teresa N; Yaron, Yuval; Norton, Mary E; Diderich, Karin; Wang, Yiming; Chong, Karen; Chitayat, David; Saini, Neelam; Aggarwal, Shagun; Pauta, Montse; Borrell, Antoni; Gilmore, Kelly; Chandler, Natalie J; Allen, Stephanie; Vora, Neeta; Noor, Abdul; Monaghan, Caitriona; Kilby, Mark D; Wapner, Ronald J; Chitty, Lyn S; Mone, Fionnuala

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

TBC1D32相关疾病的诊断:扩展复杂纤毛病的表型谱

Harris, Sarah C; Chong, Karen; Chitayat, David; Gilmore, Kelly L; Jorge, Alexander A L; Freire, Bruna L; Lerario, Antonio; Shannon, Patrick; Cope, Heidi; Gallentine, William B; Le Guyader, Gwenal; Bilan, Frederic; Létard, Pascaline; Davis, Erica E; Vora, Neeta L

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

在胎儿队列研究中发现科芬-西里斯综合征表型谱的新部分

van der Sluijs, Pleuntje J; Joosten, Marieke; Alby, Caroline; Attié-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Mélanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C; Ahlers, Kaitlyn P; Arts, Peer; Barnett, Christopher P; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-González, Anna Maria; Dempsey, Jennifer C; Diderich, Karin E M; Doherty, Dan; Farholt, Stense; Gerkes, Erica H; Gorokhova, Svetlana; Govaerts, Lutgarde C P; Gregersen, Pernille A; Hickey, Scott E; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T; Zahir, Farah R; Scott, Hamish S; Earl, Rachel K; Eichler, Evan E; Vora, Neeta L; Wilnai, Yael; Giordano, Jessica L; Wapner, Ronald J; Rosenfeld, Jill A; Haak, Monique C; Santen, Gijs W E