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

Evaluating pregnancy and neonatal outcomes in mothers with genetic disease using electronic health care records

利用电子健康记录评估患有遗传疾病母亲的妊娠和新生儿结局

Tinker, Rory J; Richter, Lucas D; Furuta, Yutaka; Shyr, Cathy; Shirazi, Sherwin M; Sucre, Jennifer; Gatta, Luke A; Phillips, John A 3rd; Peterson, Josh F; Bastarache, Lisa

Decoding Genetic Disease Through the Skin: Lessons From the UDN

通过皮肤解码遗传疾病:来自UDN的经验教训

Sivadas, Athira; Moore, Katelyn; Ezell, Kimberly; McMinn, Ashley; Furuta, Yutaka; Bunick, Christopher G; Cassini, Thomas; Hamid, Rizwan; Phillips, John A 3rd; Tinker, Rory J

Defining an approach to empower clinical geneticists to do genomic reanalysis

制定一种方法,使临床遗传学家能够进行基因组再分析

Segal, Michael M; McEntagart, Meriel; Deng, Alexander T; Haworth, Andrea; King, Brian; Rogers, Anthony; Filby, John; Short, John; Hash, Mary Grace; Rives, Lynette C; Ezell, Kimberly M; Phillips, John A 3rd

Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades

临床基因检测趋势分析:一项基于20年间180万患者电子病历数据的单中心分析

Bastarache, Lisa; Tinker, Rory J; Schuler, Bryce A; Richter, Lucas; Phillips, John A 3rd; Stead, William W; Hooker, Gillian W; Peterson, Josh F; Ruderfer, Douglas M

The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas

未确诊疾病网络(UDN)解决眼部综合征诊断难题

Tinker, Rory J; Smith, Logan M; Bastarache, Lisa A; Ezell, Kimberly M; Furuta, Yutaka; Hamid, Rizwan; Cogan, Joy D; Phillips, John A 3rd; Joos, Karen M

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network

未确诊疾病网络中患有多种已确诊遗传疾病的个体患病率

Gimeno, Alex F; Tinker, Rory J; Furuta, Yutaka; Phillips, John A 3rd

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses

通过表观遗传学和结构分析证实,CHD8变异体导致智力发育障碍伴自闭症和巨头畸形的表型变异性和父系遗传

Furuta, Yutaka; Ezell, Kimberly M; Hamid, Rizwan; Cogan, Joy D; Cassini, Thomas A; Rives, Lynette; McMinn, Ashley; Shah, Shailee; Peltier, Amanda C; Layfield, Stephen; Fletcher, Robin S; Tedder, Matthew L; Louie, Raymond J; Lee, Jennifer A; Kerkhof, Jennifer; Rzasa, Jessica; Sadikovic, Bekim; Al Mamun, Abdullah; Sheehan, Jonathan H; Moth, Christopher W; Meiler, Jens; Vawter-Lee, Marissa; Mendoza-Sengco, Paola Maria; Holzen, Jennifer B; Pruthi, Sumit; Phillips, John A 3rd; Tinker, Rory J

Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder

纠正实验室对未知意义变异的误判:以常染色体隐性遗传疾病中的 EMILIN1 变异为例

Furuta, Yutaka; Tinker, Rory J; Dahlhauser, Ryan M; Phillips, John A 3rd

Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network

推进罕见病研究领域的公平性:来自未确诊疾病网络的见解

Borja, Nicholas A; Tinker, Rory J; Bivona, Stephanie A; Smith, Carson A; Locker, Theodore Krijnse; Fernandes, Samuela; Phillips, John A 3rd; Stoler, Justin; Taylor, Herman; Zuchner, Stephan; Tekin, Mustafa

A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases

对未确诊疾病网络中多种诊断方法进行综述,以识别遗传性代谢疾病

Furuta, Yutaka; Tinker, Rory J; Hamid, Rizwan; Cogan, Joy D; Ezell, Kimberly M; Oglesbee, Devin; DeBerardinis, Ralph J; Phillips, John A 3rd