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

Inflammatory bowel disease and hereditary hemochromatosis: A case series

炎症性肠病和遗传性血色素沉着症:病例系列

Fein, Jackson; Hildreth, Amber; Choi, Lillian J; Huang, Jeannie S

Reply to letter to the editor in response to: Distinguishing autoimmune hepatitis from steatohepatitis in adolescents with obesity and positive screening alanine aminotransferase

回复读者来信,主题为:区分肥胖且丙氨酸氨基转移酶筛查阳性的青少年中的自身免疫性肝炎和脂肪性肝炎

Hildreth, Amber; Schwimmer, Jeffrey B

A neonatal case of vascular ring with Alagille syndrome

一例新生儿血管环合并阿拉吉尔综合征的病例

Lee, Pei-Shan; Silva Sepulveda, Jose A; Del Campo, Miguel; Leibel, Sandra L; Hildreth, Amber; Marc-Aurele, Krishelle L

Distinguishing Autoimmune Hepatitis From Steatohepatitis in Adolescents With Obesity and Positive Screening Alanine Aminotransferase

区分肥胖且丙氨酸氨基转移酶筛查阳性青少年中的自身免疫性肝炎和脂肪性肝炎

Hildreth, Amber; Shapiro, Warren L; Lowenthal, Brett M; Goyal, Anurag; Schwimmer, Jeffrey B

Severe Acute Respiratory Syndrome Coronavirus-2 Infection in Children With Liver Transplant and Native Liver Disease: An International Observational Registry Study

严重急性呼吸综合征冠状病毒2感染在接受肝移植和患有原发性肝病的儿童中的发生情况:一项国际观察性注册研究

Kehar, Mohit; Ebel, Noelle H; Ng, Vicky L; Baquero, Jairo Eduardo Rivera; Leung, Daniel H; Slowik, Voytek; Ovchinsky, Nadia; Shah, Amit A; Arnon, Ronen; Miloh, Tamir; Gupta, Nitika; Mohammad, Saeed; Kogan-Liberman, Debora; Squires, James E; Sanchez, Maria Camila; Hildreth, Amber; Book, Linda; Chu, Christopher; Alrabadi, Leina; Azzam, Ruba; Chepuri, Bhavika; Elisofon, Scott; Falik, Rachel; Gallagher, Lisa; Kader, Howard; Mogul, Douglas; Mujawar, Quais; Namjoshi, Shweta S; Valentino, Pamela L; Vitola, Bernadette; Waheed, Nadia; Zheng, Ming-Hua; Lobritto, Steven; Martinez, Mercedes

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.

缬氨酰-tRNA合成酶基因VARS的双等位基因突变与进行性神经发育性癫痫性脑病有关

Friedman Jennifer, Smith Desiree E, Issa Mahmoud Y, Stanley Valentina, Wang Rengang, Mendes Marisa I, Wright Meredith S, Wigby Kristen, Hildreth Amber, Crawford John R, Koehler Alanna E, Chowdhury Shimul, Nahas Shareef, Zhai Liting, Xu Zhiwen, Lo Wing-Sze, James Kiely N, Musaev Damir, Accogli Andrea, Guerrero Kether, Tran Luan T, Omar Tarek E I, Ben-Omran Tawfeg, Dimmock David, Kingsmore Stephen F, Salomons Gajja S, Zaki Maha S, Bernard Geneviève, Gleeson Joseph G

Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

利用快速全基因组测序和自动化表型分析与解读技术诊断重症儿童的遗传疾病

Clark, Michelle M; Hildreth, Amber; Batalov, Sergey; Ding, Yan; Chowdhury, Shimul; Watkins, Kelly; Ellsworth, Katarzyna; Camp, Brandon; Kint, Cyrielle I; Yacoubian, Calum; Farnaes, Lauge; Bainbridge, Matthew N; Beebe, Curtis; Braun, Joshua J A; Bray, Margaret; Carroll, Jeanne; Cakici, Julie A; Caylor, Sara A; Clarke, Christina; Creed, Mitchell P; Friedman, Jennifer; Frith, Alison; Gain, Richard; Gaughran, Mary; George, Shauna; Gilmer, Sheldon; Gleeson, Joseph; Gore, Jeremy; Grunenwald, Haiying; Hovey, Raymond L; Janes, Marie L; Lin, Kejia; McDonagh, Paul D; McBride, Kyle; Mulrooney, Patrick; Nahas, Shareef; Oh, Daeheon; Oriol, Albert; Puckett, Laura; Rady, Zia; Reese, Martin G; Ryu, Julie; Salz, Lisa; Sanford, Erica; Stewart, Lawrence; Sweeney, Nathaly; Tokita, Mari; Van Der Kraan, Luca; White, Sarah; Wigby, Kristen; Williams, Brett; Wong, Terence; Wright, Meredith S; Yamada, Catherine; Schols, Peter; Reynders, John; Hall, Kevin; Dimmock, David; Veeraraghavan, Narayanan; Defay, Thomas; Kingsmore, Stephen F

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

一项关于单例和三例快速基因组和外显子组测序在患病婴儿中分析和诊断性能的随机对照试验

Kingsmore, Stephen F; Cakici, Julie A; Clark, Michelle M; Gaughran, Mary; Feddock, Michele; Batalov, Sergey; Bainbridge, Matthew N; Carroll, Jeanne; Caylor, Sara A; Clarke, Christina; Ding, Yan; Ellsworth, Katarzyna; Farnaes, Lauge; Hildreth, Amber; Hobbs, Charlotte; James, Kiely; Kint, Cyrielle I; Lenberg, Jerica; Nahas, Shareef; Prince, Lance; Reyes, Iris; Salz, Lisa; Sanford, Erica; Schols, Peter; Sweeney, Nathaly; Tokita, Mari; Veeraraghavan, Narayanan; Watkins, Kelly; Wigby, Kristen; Wong, Terence; Chowdhury, Shimul; Wright, Meredith S; Dimmock, David

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

快速全基因组测序可降低婴儿发病率和住院费用

Farnaes, Lauge; Hildreth, Amber; Sweeney, Nathaly M; Clark, Michelle M; Chowdhury, Shimul; Nahas, Shareef; Cakici, Julie A; Benson, Wendy; Kaplan, Robert H; Kronick, Richard; Bainbridge, Matthew N; Friedman, Jennifer; Gold, Jeffrey J; Ding, Yan; Veeraraghavan, Narayanan; Dimmock, David; Kingsmore, Stephen F

Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis

快速全基因组测序在一名患有胆汁淤积的7周龄男婴中发现了一种与尼曼-匹克C1型疾病相关的新型纯合NPC1变异。

Hildreth, Amber; Wigby, Kristen; Chowdhury, Shimul; Nahas, Shareef; Barea, Jaime; Ordonez, Paulina; Batalov, Sergey; Dimmock, David; Kingsmore, Stephen