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

Case Report: A simple case of drug-induced secondary antibody deficiency or a rare primary immune deficiency?

病例报告:是简单的药物诱发继发性抗体缺乏症,还是罕见的原发性免疫缺陷症?

Johnston, Sarah L; Evans, Julie C; Berry, Ian R; Watkinson, Oliver T

Whole genome sequencing for copy number variant detection to improve diagnosis and management of rare diseases

全基因组测序用于拷贝数变异检测,以改善罕见病的诊断和治疗。

Bowman, Pamela; Grimes, Hannah; Dallosso, Anthony R; Berry, Ian; Mullin, Stephen; Rankin, Julia; Low, Karen J

Infantile Cerebellar-Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

与新型ACO2变异相关的婴儿小脑视网膜变性:临床特征及果蝇模型研究的启示

Buhl, Edgar; Garg, Suchika; Monaghan, Marie; Preston, Amy; Likeman, Marcus; Dare, Julianne; Evans, Julie; Taylor, Lucie S; Berry, Ian; Urankar, Kathryn; Spry, Paul G D; Williams, Cathy; Taylor, Robert W; Alston, Charlotte L; Hodge, James J L; Majumdar, Anirban

Eco-anxiety, climate concern, and fatalistic outlooks: Insights from U.S. crisis text conversations on climate distress

生态焦虑、气候担忧和宿命论:来自美国危机短信对话中关于气候困境的启示

Runkle, Jennifer D; Herbst, Kelsey; Ryan, Sophie; Sewell, Kelly; Mallare, Ashley; Berry, Ian; Getz, Emma; McKee, Arden; Thompson, Martie P; Sugg, Margaret M

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

U4 snRNA基因RNU4-2的突变会导致最常见的单基因神经发育障碍之一。

Greene, Daniel; Thys, Chantal; Berry, Ian R; Jarvis, Joanna; Ortibus, Els; Mumford, Andrew D; Freson, Kathleen; Turro, Ernest

Rare disease genomic testing in the UK and Ireland: promoting timely and equitable access

英国和爱尔兰的罕见病基因组检测:促进及时和公平的获取

Ellard, Sian; Morgan, Sian; Wynn, Sarah L; Walker, Susan; Parrish, Andrew; Mein, Rachael; Juett, Ana; Ahn, Joo Wook; Berry, Ian; Cassidy, Emma-Jane; Durkie, Miranda; Fish, Louise; Hall, Richard; Howard, Emma; Rankin, Julia; Wright, Caroline F; Deans, Zandra C; Scott, Richard H; Hill, Sue L; Baple, Emma L; Taylor, Robert W

Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD

量化罕见表型致病性的证据:以琥珀酸脱氢酶基因 SDHB 和 SDHD 为例

Garrett, Alice; Loveday, Chey; King, Laura; Butler, Samantha; Robinson, Rachel; Horton, Carrie; Yussuf, Amal; Choi, Subin; Torr, Beth; Durkie, Miranda; Burghel, George J; Drummond, James; Berry, Ian; Wallace, Andrew; Callaway, Alison; Eccles, Diana; Tischkowitz, Marc; Tatton-Brown, Katrina; Snape, Katie; McVeigh, Terri; Izatt, Louise; Woodward, Emma R; Burnichon, Nelly; Gimenez-Roqueplo, Anne-Paule; Mazzarotto, Francesco; Whiffin, Nicola; Ware, James; Hanson, Helen; Pesaran, Tina; LaDuca, Holly; Buffet, Alexandre; Maher, Eamonn R; Turnbull, Clare

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants

利用 7541 个 BRCA1 和 MSH2 错义变异的功能分类,量化密码子内一致性致病性预测 (PM5)

Loong, Lucy; Cubuk, Cankut; Choi, Subin; Allen, Sophie; Torr, Beth; Garrett, Alice; Loveday, Chey; Durkie, Miranda; Callaway, Alison; Burghel, George J; Drummond, James; Robinson, Rachel; Berry, Ian R; Wallace, Andrew; Eccles, Diana M; Tischkowitz, Marc; Ellard, Sian; Ware, James S; Hanson, Helen; Turnbull, Clare

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

位于浮港综合征基因座之外的SRCAP截断变异会导致一种独特的神经发育障碍,并具有特定的DNA甲基化特征。

Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J M; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B A; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T R M; Stevens, Servi J C; Vermeulen, Jeroen R; van Harssel, Jeske V T; Bosch, Danielle G M; van Gassen, Koen L I; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M; Radley, Jessica A; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G; Õunap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, María; Pacio-Míguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tønne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Małgorzata J M; Cohn, Ronald D; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W; Brunner, Han G; Vissers, Lisenka E L M; Kleefstra, Tjitske; Koolen, David A; Weksberg, Rosanna

Novel Case of Tripeptidyl Peptidase 2 Deficiency Associated with Mild Clinical Phenotype

一例伴有轻微临床表型的新型三肽基肽酶2缺乏症

Stockdale, Claire; Rice, Laura; Carter, Clive; Berry, Ian; Poulter, James; O'Riordan, Sean; Pollard, Sally; Anwar, Rashida; Tooze, Reuben; Savic, Sinisa