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

Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases

晚发型GM2神经节苷脂沉积症的异同:泰-萨克斯病和桑德霍夫病

Lewis, Connor J; Shirvan, Leila; Johnston, Jean M; Groden, Catherine; Yang, John; Ashton, Andrea; Chong, Jessica; Moran, Mark; Akmal, Hera; Chipman, Selby I; Zampieri, Cris; Wickstrom, Jordan; Matsubara, Jesse; Gavelli, Frances; Lehky, Tanya; Alter, Katharine E; Toro, Camilo; Tifft, Cynthia J

Variability of Care Practices for Extremely Early Deliveries

极早产儿护理实践的差异

LoRe, Danielle; Groden, Catherine M; Schuh, Allison R; Holmes, Chondraah; Ostilla, Lorena; Vogel, Maggie M; Murray, Peter D; Yamasato, Kelly; Tonismae, Tiffany; Anani, Uchenna E; Henner, Natalia; Famuyide, Mobolaji; Leuthner, Steven R; Laventhal, Naomi; Andrews, Bree Landis; Tucker Edmonds, Brownsyne M; Brennan, Kathleen G; Feltman, Dalia M

Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome

对点头综合征患者进行基因组分析、免疫调节和深度表型分析

Soldatos, Ariane; Nutman, Thomas B; Johnson, Tory; Dowell, Scott F; Sejvar, James J; Wilson, Michael R; DeRisi, Joseph L; Inati, Sara K; Groden, Catherine; Evans, Colleen; O'Connell, Elise M; Toliva, Bernard Opar; Aceng, Jane R; Aryek-Kwe, Josephine; Toro, Camilo; Stratakis, Constantine A; Buckler, A Gretchen; Cantilena, Cathy; Palmore, Tara N; Thurm, Audrey; Baker, Eva H; Chang, Richard; Fauni, Harper; Adams, David; Macnamara, Ellen F; Lau, C Christopher; Malicdan, May Christine V; Pusey-Swerdzewski, Barbara; Downing, Robert; Bunga, Sudhir; Thomas, Jerry D; Gahl, William A; Nath, Avindra

PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1

PARK7相关早发性帕金森病,发生于1号染色体完全单亲二体性背景下

Xiao, Changrui; Markello, Thomas; Zein, Wadih M; Bishop, Rachel; Groden, Catherine; Gahl, William; Toro, Camilo

Expanding the phenotype of COPA syndrome: a kindred with typical and atypical features

扩展COPA综合征的表型:一个具有典型和非典型特征的家族

Taveira-DaSilva, Angelo M; Markello, Thomas C; Kleiner, David E; Jones, Amanda M; Groden, Catherine; Macnamara, Ellen; Yokoyama, Tadafumi; Gahl, William A; Gochuico, Bernadette R; Moss, Joel

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

病例报告:17q12缺失累及HNF1B基因的患者出现严重冠状动脉钙化和低镁血症

Li, Howard J; Groden, Catherine; Hoenig, Melanie P; Ray, Evan C; Ferreira, Carlos R; Gahl, Willam; Novacic, Danica

Neurodegeneration as the presenting symptom in 2 adults with xeroderma pigmentosum complementation group F

两名患有着色性干皮病互补组F的成年患者以神经退行性变作为首发症状。

Shanbhag, Niraj M; Geschwind, Michael D; DiGiovanna, John J; Groden, Catherine; Godfrey, Rena; Yousefzadeh, Matthew J; Wade, Erin A; Niedernhofer, Laura J; Malicdan, May Christine V; Kraemer, Kenneth H; Gahl, William A; Toro, Camilo

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

在稳态扰动范式下定义疾病、诊断和转化医学:美国国立卫生研究院未确诊疾病项目经验

Gall, Timothy; Valkanas, Elise; Bello, Christofer; Markello, Thomas; Adams, Christopher; Bone, William P; Brandt, Alexander J; Brazill, Jennifer M; Carmichael, Lynn; Davids, Mariska; Davis, Joie; Diaz-Perez, Zoraida; Draper, David; Elson, Jeremy; Flynn, Elise D; Godfrey, Rena; Groden, Catherine; Hsieh, Cheng-Kang; Fischer, Roxanne; Golas, Gretchen A; Guzman, Jessica; Huang, Yan; Kane, Megan S; Lee, Elizabeth; Li, Chong; Links, Amanda E; Maduro, Valerie; Malicdan, May Christine V; Malik, Fayeza S; Nehrebecky, Michele; Park, Joun; Pemberton, Paul; Schaffer, Katherine; Simeonov, Dimitre; Sincan, Murat; Smedley, Damian; Valivullah, Zaheer; Wahl, Colleen; Washington, Nicole; Wolfe, Lynne A; Xu, Karen; Zhu, Yi; Gahl, William A; Tifft, Cynthia J; Toro, Camillo; Adams, David R; He, Miao; Robinson, Peter N; Haendel, Melissa A; Zhai, R Grace; Boerkoel, Cornelius F

Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency

利用人类和模式生物的表型对外显子组序列数据进行计算评估,可提高诊断效率。

Bone, William P; Washington, Nicole L; Buske, Orion J; Adams, David R; Davis, Joie; Draper, David; Flynn, Elise D; Girdea, Marta; Godfrey, Rena; Golas, Gretchen; Groden, Catherine; Jacobsen, Julius; Köhler, Sebastian; Lee, Elizabeth M J; Links, Amanda E; Markello, Thomas C; Mungall, Christopher J; Nehrebecky, Michele; Robinson, Peter N; Sincan, Murat; Soldatos, Ariane G; Tifft, Cynthia J; Toro, Camilo; Trang, Heather; Valkanas, Elise; Vasilevsky, Nicole; Wahl, Colleen; Wolfe, Lynne A; Boerkoel, Cornelius F; Brudno, Michael; Haendel, Melissa A; Gahl, William A; Smedley, Damian

Clinical course and prognosis in patients with Gaucher disease and parkinsonism

戈谢病和帕金森综合征患者的临床病程和预后

Lopez, Grisel; Kim, Jenny; Wiggs, Edythe; Cintron, Dahima; Groden, Catherine; Tayebi, Nahid; Mistry, Pramod K; Pastores, Gregory M; Zimran, Ari; Goker-Alpan, Ozlem; Sidransky, Ellen