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

Advancing precision care in pregnancy through a treatable fetal findings list

通过可治疗的胎儿异常清单推进孕期精准医疗

Cohen, Jennifer L; Duyzend, Michael; Adelson, Sophia M; Yeo, Julie; Fleming, Mark; Ganetzky, Rebecca; Hale, Rebecca; Mitchell, Deborah M; Morton, Sarah U; Reimers, Rebecca; Roberts, Amy; Strong, Alanna; Tan, Weizhen; Thiagarajah, Jay R; Walker, Melissa A; Green, Robert C; Gold, Nina B

Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023)

Myhre综合征自然史的出现:麻省总医院Myhre综合征诊所评估的47例患者(2016-2023年)

Lin, Angela E; Scimone, Eleanor R; Thom, Robyn P; Balaguru, Duraisamy; Kinane, T Bernard; Moschovis, Peter P; Cohen, Michael S; Tan, Weizhen; Hague, Cole D; Dannheim, Katelyn; Levitsky, Lynne L; Lilly, Evelyn; DiGiacomo, Daniel V; Masse, Kara M; Kadzielski, Sarah M; Zar-Kessler, Claire A; Ginns, Leo C; Neumeyer, Ann M; Colvin, Mary K; Elder, Jack S; Learn, Christopher P; Mou, Hongmei; Weagle, Kathryn M; Buch, Karen A; Butler, William E; Alhadid, Kenda; Musolino, Patricia L; Sultana, Sadia; Bandyopadhyay, Dhrubajyoti; Rapalino, Otto; Peacock, Zachary S; Chou, Elizabeth L; Heidary, Gena; Dorfman, Aaron T; Morris, Shaine A; Bergin, James D; Rayment, Jonathan H; Schimmenti, Lisa A; Lindsay, Mark E

Perspectives of Rare Disease Experts on Newborn Genome Sequencing

罕见病专家对新生儿基因组测序的看法

Gold, Nina B; Adelson, Sophia M; Shah, Nidhi; Williams, Shardae; Bick, Sarah L; Zoltick, Emilie S; Gold, Jessica I; Strong, Alanna; Ganetzky, Rebecca; Roberts, Amy E; Walker, Melissa; Holtz, Alexander M; Sankaran, Vijay G; Delmonte, Ottavia; Tan, Weizhen; Holm, Ingrid A; Thiagarajah, Jay R; Kamihara, Junne; Comander, Jason; Place, Emily; Wiggs, Janey; Green, Robert C

NHR-80 senses the mitochondrial UPR to rewire citrate metabolism for lipid accumulation in Caenorhabditis elegans

NHR-80 感知线粒体 UPR,重新连接柠檬酸代谢,促进秀丽隐杆线虫的脂质积累

Rendan Yang, Yamei Li, Yanli Wang, Jingjing Zhang, Qijing Fan, Jianlin Tan, Weizhen Li, Xiaoju Zou, Bin Liang

Primary coenzyme Q10 nephropathy, a potentially treatable form of steroid-resistant nephrotic syndrome

原发性辅酶Q10肾病,一种潜在可治疗的激素抵抗性肾病综合征。

Tan, Weizhen; Airik, Rannar

Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients

全外显子组测序为肾移植受者实现精准医疗提供了可能

Mann, Nina; Braun, Daniela A; Amann, Kassaundra; Tan, Weizhen; Shril, Shirlee; Connaughton, Dervla M; Nakayama, Makiko; Schneider, Ronen; Kitzler, Thomas M; van der Ven, Amelie T; Chen, Jing; Ityel, Hadas; Vivante, Asaf; Majmundar, Amar J; Daga, Ankana; Warejko, Jillian K; Lovric, Svjetlana; Ashraf, Shazia; Jobst-Schwan, Tilman; Widmeier, Eugen; Hugo, Hannah; Mane, Shrikant M; Spaneas, Leslie; Somers, Michael J G; Ferguson, Michael A; Traum, Avram Z; Stein, Deborah R; Baum, Michelle A; Daouk, Ghaleb H; Lifton, Richard P; Manzi, Shannon; Vakili, Khashayar; Kim, Heung Bae; Rodig, Nancy M; Hildebrandt, Friedhelm

Panel sequencing distinguishes monogenic forms of nephritis from nephrosis in children

基因测序可以区分儿童单基因肾炎和肾病。

Schapiro, David; Daga, Ankana; Lawson, Jennifer A; Majmundar, Amar J; Lovric, Svjetlana; Tan, Weizhen; Warejko, Jillian K; Fessi, Inés; Rao, Jia; Airik, Merlin; Gee, Heon Yung; Schneider, Ronen; Widmeier, Eugen; Hermle, Tobias; Ashraf, Shazia; Jobst-Schwan, Tilman; van der Ven, Amelie T; Nakayama, Makiko; Shril, Shirlee; Braun, Daniela A; Hildebrandt, Friedhelm

Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome

儿童肾病综合征中LAMA5基因的遗传变异

Braun, Daniela A; Warejko, Jillian K; Ashraf, Shazia; Tan, Weizhen; Daga, Ankana; Schneider, Ronen; Hermle, Tobias; Jobst-Schwan, Tilman; Widmeier, Eugen; Majmundar, Amar J; Nakayama, Makiko; Schapiro, David; Rao, Jia; Schmidt, Johanna Magdalena; Hoogstraten, Charlotte A; Hugo, Hannah; Bakkaloglu, Sevcan A; Kari, Jameela A; El Desoky, Sherif; Daouk, Ghaleb; Mane, Shrikant; Lifton, Richard P; Shril, Shirlee; Hildebrandt, Friedhelm

Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis

全外显子组测序经常能检测到早发性肾结石和肾钙质沉着症的单基因病因。

Daga, Ankana; Majmundar, Amar J; Braun, Daniela A; Gee, Heon Yung; Lawson, Jennifer A; Shril, Shirlee; Jobst-Schwan, Tilman; Vivante, Asaf; Schapiro, David; Tan, Weizhen; Warejko, Jillian K; Widmeier, Eugen; Nelson, Caleb P; Fathy, Hanan M; Gucev, Zoran; Soliman, Neveen A; Hashmi, Seema; Halbritter, Jan; Halty, Margarita; Kari, Jameela A; El-Desoky, Sherif; Ferguson, Michael A; Somers, Michael J G; Traum, Avram Z; Stein, Deborah R; Daouk, Ghaleb H; Rodig, Nancy M; Katz, Avi; Hanna, Christian; Schwaderer, Andrew L; Sayer, John A; Wassner, Ari J; Mane, Shrikant; Lifton, Richard P; Milosevic, Danko; Tasic, Velibor; Baum, Michelle A; Hildebrandt, Friedhelm

Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract

全外显子组测序可识别出患有先天性肾脏和泌尿系统畸形家族的致病突变

van der Ven, Amelie T; Connaughton, Dervla M; Ityel, Hadas; Mann, Nina; Nakayama, Makiko; Chen, Jing; Vivante, Asaf; Hwang, Daw-Yang; Schulz, Julian; Braun, Daniela A; Schmidt, Johanna Magdalena; Schapiro, David; Schneider, Ronen; Warejko, Jillian K; Daga, Ankana; Majmundar, Amar J; Tan, Weizhen; Jobst-Schwan, Tilman; Hermle, Tobias; Widmeier, Eugen; Ashraf, Shazia; Amar, Ali; Hoogstraaten, Charlotte A; Hugo, Hannah; Kitzler, Thomas M; Kause, Franziska; Kolvenbach, Caroline M; Dai, Rufeng; Spaneas, Leslie; Amann, Kassaundra; Stein, Deborah R; Baum, Michelle A; Somers, Michael J G; Rodig, Nancy M; Ferguson, Michael A; Traum, Avram Z; Daouk, Ghaleb H; Bogdanović, Radovan; Stajić, Natasa; Soliman, Neveen A; Kari, Jameela A; El Desoky, Sherif; Fathy, Hanan M; Milosevic, Danko; Al-Saffar, Muna; Awad, Hazem S; Eid, Loai A; Selvin, Aravind; Senguttuvan, Prabha; Sanna-Cherchi, Simone; Rehm, Heidi L; MacArthur, Daniel G; Lek, Monkol; Laricchia, Kristen M; Wilson, Michael W; Mane, Shrikant M; Lifton, Richard P; Lee, Richard S; Bauer, Stuart B; Lu, Weining; Reutter, Heiko M; Tasic, Velibor; Shril, Shirlee; Hildebrandt, Friedhelm