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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina

Application of full-genome analysis to diagnose rare monogenic disorders

应用全基因组分析诊断罕见单基因疾病

Shieh, Joseph T; Penon-Portmann, Monica; Wong, Karen H Y; Levy-Sakin, Michal; Verghese, Michelle; Slavotinek, Anne; Gallagher, Renata C; Mendelsohn, Bryce A; Tenney, Jessica; Beleford, Daniah; Perry, Hazel; Chow, Stephen K; Sharo, Andrew G; Brenner, Steven E; Qi, Zhongxia; Yu, Jingwei; Klein, Ophir D; Martin, David; Kwok, Pui-Yan; Boffelli, Dario

Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders

出版商更正:全基因组分析在诊断罕见单基因疾病中的应用

Shieh, Joseph T; Penon-Portmann, Monica; Wong, Karen H Y; Levy-Sakin, Michal; Verghese, Michelle; Slavotinek, Anne; Gallagher, Renata C; Mendelsohn, Bryce A; Tenney, Jessica; Beleford, Daniah; Perry, Hazel; Chow, Stephen K; Sharo, Andrew G; Brenner, Steven E; Qi, Zhongxia; Yu, Jingwei; Klein, Ophir D; Martin, David; Kwok, Pui-Yan; Boffelli, Dario

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

RNA 外泌体基因 EXOSC5 中的双等位基因变异与发育迟缓、身材矮小、小脑发育不全和运动无力有关

Anne Slavotinek, Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman, Jennifer E Hurtig, Liz Enyenihi, Maria C Sterrett, Sara W Leung, Dina Schneidman-Duhovny, Juvianee Estrada-Veras, Jacque L Duncan, Charlotte A Haaxma, Erik-Jan Kamsteeg, Vivian Xia, Daniah Beleford, Yue

A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy

环指蛋白113A (RNF113A) 的一种新型截短变异证实了该基因与X连锁毛发硫营养不良症的关联。

Mendelsohn, Bryce A; Beleford, Daniah T; Abu-El-Haija, Aya; Alsaleh, Norah S; Rahbeeni, Zuhair; Martin, Pierre-Marie; Rego, Shannon; Huang, Alyssa; Capodanno, Gina; Shieh, Joseph T; Van Ziffle, Jessica; Risch, Neil; Alkuraya, Fowzan S; Slavotinek, Anne M

Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review

蜡样斑纹症和蜡样斑纹症的皮肤外表现:病例系列及文献综述

Kumar, Akash; Zastrow, Diane B; Kravets, Elijah J; Beleford, Daniah; Ruzhnikov, Maura R Z; Grove, Megan E; Dries, Annika M; Kohler, Jennefer N; Waggott, Daryl M; Yang, Yaping; Huang, Yong; Mackenzie, Katherine M; Eng, Christine M; Fisher, Paul G; Ashley, Euan A; Teng, Joyce M; Stevenson, David A; Shieh, Joseph T; Wheeler, Matthew T; Bernstein, Jonathan A

Familial melanoma-astrocytoma syndrome: synchronous diffuse astrocytoma and pleomorphic xanthoastrocytoma in a patient with germline CDKN2A/B deletion and a significant family history

家族性黑色素瘤-星形细胞瘤综合征:一名携带生殖系 CDKN2A/B 缺失且有显著家族史的患者同时出现弥漫性星形细胞瘤和多形性黄色星形细胞瘤。

Chan, Andrew K; Han, Seunggu J; Choy, Winward; Beleford, Daniah; Aghi, Manish K; Berger, Mitchel S; Shieh, Joseph T; Bollen, Andrew W; Perry, Arie; Phillips, Joanna J; Butowski, Nicholas; Solomon, David A

High temperature requirement A3 (HtrA3) promotes etoposide- and cisplatin-induced cytotoxicity in lung cancer cell lines

高温需求 A3 (HtrA3) 促进依托泊苷和顺铂诱导的肺癌细胞系细胞毒性

Daniah Beleford, Ramandeep Rattan, Jeremy Chien, Viji Shridhar