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

Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

与肥厚型心肌病相关的基因:ClinGen遗传性心血管疾病基因注释专家组的重新评估

Hespe, Sophie; Waddell, Amber; Asatryan, Babken; Owens, Emma; Thaxton, Courtney; Adduru, Mhy-Lanie; Anderson, Kailyn; Brown, Emily E; Hoffman-Andrews, Lily; Jordan, Elizabeth; Josephs, Katherine; Mayers, Megan; Peters, Stacey; Stafford, Fergus; Bagnall, Richard D; Bronicki, Lucas; Callewaert, Bert; Chahal, C Anwar A; James, Cynthia A; Jarinova, Olga; Landstrom, Andrew P; McNally, Elizabeth M; Murray, Brittney; Muiño-Mosquera, Laura; Parikh, Victoria; Reuter, Chloe; Walsh, Roddy; Wayburn, Bess; Ware, James S; Ingles, Jodie

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel

对与马凡综合征相关的FBN1变异的解读和分类:临床基因组资源FBN1变异注释专家组的共识建议

Drackley, A; Somerville, C; Arnaud, P; Baudhuin, L M; Hanna, N; Kluge, M L; Kotzer, K; Boileau, C; Bronicki, L; Callewaert, B; Cecchi, A; Dietz, H; Guo, D; Harris, S; Jarinova, O; Lindsay, M; Little, L; Loeys, B; MacCarrick, G; Meester, J; Milewicz, D; Morisaki, T; Morisaki, H; Murdock, D; Renard, M; Richer, J; Robert, L; Ouzounian, M; Van Laer, L; De Backer, J; Muiño-Mosquera, L

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

专家组筛选出与肢带型肌营养不良症相关的31个基因

Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R; Beckmann, Jacques S; Bronicki, Lucas; Cooper, Sandra T; Ganesh, Vijay S; Kang, Peter B; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

专家组筛选出与肢带型肌营养不良症相关的31个基因

Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R; Beckmann, Jacques S; Bronicki, Lucas; Cooper, Sandra T; Ganesh, Vijay S; Kang, Peter B; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C

ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy

ClinGen遗传性心血管疾病基因注释专家组:重新评估与肥厚型心肌病相关的基因

Hespe, Sophie; Waddell, Amber; Asatryan, Babken; Owens, Emma; Thaxton, Courtney; Adduru, Mhy-Lanie; Anderson, Kailyn; Brown, Emily E; Hoffman-Andrews, Lily; Jordan, Elizabeth; Josephs, Katherine; Mayers, Megan; Peters, Stacey; Stafford, Fergus; Bagnall, Richard D; Bronicki, Lucas; Callewaert, Bert; Chahal, C Anwar A; James, Cynthia A; Jarinova, Olga; Landstrom, Andrew P; McNally, Elizabeth M; Murray, Brittney; Muiño-Mosquera, Laura; Parikh, Victoria; Reuter, Chloe; Walsh, Roddy; Wayburn, Bess; Ware, James S; Ingles, Jodie

Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

超越基因-疾病有效性:获取遗传、等位基因需求、疾病相关变异类别以及遗传性心脏病疾病机制的结构化数据

Josephs, Katherine S; Roberts, Angharad M; Theotokis, Pantazis; Walsh, Roddy; Ostrowski, Philip J; Edwards, Matthew; Fleming, Andrew; Thaxton, Courtney; Roberts, Jason D; Care, Melanie; Zareba, Wojciech; Adler, Arnon; Sturm, Amy C; Tadros, Rafik; Novelli, Valeria; Owens, Emma; Bronicki, Lucas; Jarinova, Olga; Callewaert, Bert; Peters, Stacey; Lumbers, Tom; Jordan, Elizabeth; Asatryan, Babken; Krishnan, Neesha; Hershberger, Ray E; Chahal, C Anwar A; Landstrom, Andrew P; James, Cynthia; McNally, Elizabeth M; Judge, Daniel P; van Tintelen, Peter; Wilde, Arthur; Gollob, Michael; Ingles, Jodie; Ware, James S

Implementation of the Richmond Agitation-Sedation Scale (palliative version) on an inpatient palliative care unit

在住院姑息治疗病房实施里士满躁动-镇静量表(姑息治疗版)

Bush, Shirley H; Bronicki, Katarzyna; Dionne, Michel; Lelievre, Natasha; Lawlor, Peter G; Kabir, Monisha

Beyond gene-disease validity: capturing structured data on inheritance, allelic-requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

超越基因-疾病有效性:获取遗传、等位基因需求、疾病相关变异类别以及遗传性心脏病疾病机制的结构化数据

Josephs, Katherine S; Roberts, Angharad M; Theotokis, Pantazis; Walsh, Roddy; Ostrowski, Philip J; Edwards, Matthew; Fleming, Andrew; Thaxton, Courtney; Roberts, Jason D; Care, Melanie; Zareba, Wojciech; Adler, Arnon; Sturm, Amy C; Tadros, Rafik; Novelli, Valeria; Owens, Emma; Bronicki, Lucas; Jarinova, Olga; Callewaert, Bert; Peters, Stacey; Lumbers, Tom; Jordan, Elizabeth; Asatryan, Babken; Krishnan, Neesha; Hershberger, Ray E; Chahal, C Anwar A; Landstrom, Andrew P; James, Cynthia; McNally, Elizabeth M; Judge, Daniel P; van Tintelen, Peter; Wilde, Arthur; Gollob, Michael; Ingles, Jodie; Ware, James S

Developing GLAD Parameters to Control the Deposition of Nanostructured Thin Film

开发GLAD参数以控制纳米结构薄膜的沉积

Bronicki, Jakub; Grochala, Dominik; Rydosz, Artur

The acute influence of vasopressin on hemodynamic status and tissue oxygenation following the Norwood procedure

血管加压素对诺伍德手术后血流动力学状态和组织氧合的急性影响

Bronicki, Ronald A; Acosta, Sebastian; Savorgnan, Fabio; Flores, Saul; Achuff, Barbara-Jo; Loomba, Rohit; Ahmed, Mubbasheer; Ghanayem, Nancy; Heinle, Jeffrey S; Asadourian, Vicken; Lasa, Javier J