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

Interstitial cystitis: a phenotype and rare variant exome sequencing study

间质性膀胱炎:表型和罕见变异外显子组测序研究

Motelow, Joshua E; Malakar, Ayan; Krishna Murthy, Sarath Babu; Verbitsky, Miguel; Kahn, Atlas; Estrella, Elicia; Shao, Wanqing; Kunkel, Louis; Wiesenhahn, Madelyn; Beckett, Jaimee; Harris, Natasha; Lee, Richard; Adam, Rosalyn; Barbour, Kamil E; Hakonarson, Hakon; Luo, Yuan; Weng, Chunhua; Mendelsohn, Cathy L; Kiryluk, Krzysztof; Gharavi, Ali G; Brownstein, Catherine A

Engraftment of wild-type alveolar type II epithelial cells in surfactant protein C deficient mice.

将野生型 II 型肺泡上皮细胞移植到表面活性蛋白 C 缺乏小鼠体内。

Predella Camilla, Lapsley Lauren, Ni Keyue, Thimraj Tania A, Liu Hsiao-Yun, Murray John W, Motelow Joshua E, Snoeck Hans-Willem, Glasser Stephan W, Saqi Anjali, Dorrello N Valerio

Precision Diagnosis in APOL1 Kidney Disease With the p.N264K M1 Protective Variant

利用p.N264K M1保护性变异进行APOL1肾病精准诊断

Martinelli, Elena; Ke, Juntao; Khan, Atlas; Wongboonsin, Janewit; Vanderwall, David R; Lim, Tze Y; Santoriello, Dominick; Gupta, Yask; McNulty, Michelle T; Koyama, Satoshi; Puntambekar, Sidhant; Bomback, Andrew S; Canetta, Pietro; Kretzler, Matthias; Montini, Giovanni; Morello, William; Maggiore, Umberto; Fiaccadori, Enrico; Gesualdo, Loreto; Ghiggeri, Gian Marco; Oliveira, Eduardo Araújo; Simoes E Silva, Ana Cristina; Bendapudi, Pavan K; Motelow, Joshua; Garcia, Christine K; Paul, Dirk S; Petrovski, Slavé; Goldstein, David B; Friedman, David J; Radhakrishnan, Jai; Lin, Fangming; Mohan, Sumit; Appel, Gerald B; Saleem, Moin A; Natarajan, Pradeep; Hildebrandt, Friedhelm; Westland, Rik; D'Agati, Vivette D; Gbadegesin, Rasheed; Gharavi, Ali G; Pollak, Martin R; Kiryluk, Krzysztof; Sampson, Matthew G; Sanna-Cherchi, Simone

Genetic disorders and their association with morbidity and mortality in early preterm small for gestational age infants

遗传性疾病及其与早产儿(小于胎龄儿)发病率和死亡率的关系

Bomback, Miles; Everett, Selin; Lyford, Alex; Sahni, Rakesh; Kim, Faith; Baptiste, Caitlin; Motelow, Joshua E; Tolia, Veeral; Clark, Reese; Dugoff, Lorraine; Hays, Thomas

Interstitial Cystitis: a phenotype and rare variant exome sequencing study: Interstitial Cystitis: a phenotype and exome sequencing study

间质性膀胱炎:一项表型和罕见变异外显子组测序研究:间质性膀胱炎:一项表型和外显子组测序研究

Motelow, Joshua E; Malakar, Ayan; Murthy, Sarath Babu Krishna; Verbitsky, Miguel; Kahn, Atlas; Estrella, Elicia; Kunkel, Louis; Wiesenhahn, Madelyn; Becket, Jaimee; Harris, Natasha; Lee, Richard; Adam, Rosalyn; Kiryluk, Krzysztof; Gharavi, Ali G; Brownstein, Catherine A

Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS

罕见变异分析在多民族人群中验证了已知的ALS基因,并将ANTXR2确定为PLS的候选基因。

Pottinger, Tess D; Motelow, Joshua E; Povysil, Gundula; Moreno, Cristiane A Martins; Ren, Zhong; Phatnani, Hemali; Aitman, Timothy J; Santoyo-Lopez, Javier; Mitsumoto, Hiroshi; Goldstein, David B; Harms, Matthew B

Assisting the analysis of insertions and deletions using regional allele frequencies

利用区域等位基因频率辅助分析插入和缺失

Krishna Murthy, Sarath Babu; Yang, Sandy; Bheda, Shiraz; Tomar, Nikita; Li, Haiyue; Yaghoobi, Amir; Khan, Atlas; Kiryluk, Krzysztof; Motelow, Joshua E; Ren, Nick; Gharavi, Ali G; Milo Rasouly, Hila

Engraftment of wild-type alveolar type II epithelial cells in surfactant protein C deficient mice

表面活性蛋白 C 缺乏的小鼠中野生型肺泡 II 型上皮细胞的植入

Camilla Predella, Lauren Lapsley, Keyue Ni, John W Murray, Hsiao-Yun Liu, Joshua E Motelow, Hans-Willem Snoeck, Stephan W Glasser, Anjali Saqi, N Valerio Dorrello

Investigation into the genetics of fetal congenital lymphatic anomalies

胎儿先天性淋巴异常的遗传学研究

Rogerson, Daniella; Alkelai, Anna; Giordano, Jessica; Pantrangi, Madhulatha; Hsiao, Meng-Chang; Nhan-Chang, Chia-Ling; Motelow, Joshua E; Aggarwal, Vimla; Goldstein, David; Wapner, Ron; Shawber, Carrie J

Risk Variants in the Exomes of Children With Critical Illness

重症儿童外显子组中的风险变异

Motelow, Joshua E; Lippa, Natalie C; Hostyk, Joseph; Feldman, Evin; Nelligan, Matthew; Ren, Zhong; Alkelai, Anna; Milner, Joshua D; Gharavi, Ali G; Tang, Yingying; Goldstein, David B; Kernie, Steven G