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

Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models

利用深度临床表型分析和果蝇模型解析SLC6A1基因表达变异性

Jay, Kristy L; Gogate, Nikhita; Hall, Paige I; Ezell, Kimberly M; Andrews, Jonathan C; Jangam, Sharayu V; Pan, Hongling; Pham, Kelvin; German, Ryan; Gomez, Vanessa; Jellinek-Russo, Emily; Storch, Eric A; Yamamoto, Shinya; Kanca, Oguz; Bellen, Hugo J; Dierick, Herman A; Cogan, Joy D; Phillips, John A; Hamid, Rizwan; Cassini, Thomas; Rives, Lynette; Pruthi, Sumit; Chen, Hua-Chang; Posey, Jennifer E; Wangler, Michael F

Accelerated biological ageing in familial pulmonary fibrosis

家族性肺纤维化中的加速生物衰老

Serezani, Ana P M; Mitchell, Daphne B; Cogan, Joy D; Malabanan, M Merced U; Markin, Cheryl R; Garnett, Errine T; Fadely, Tisra H; Kropski, Jonathan A; Salisbury, Margaret L; Blackwell, Timothy S

Circular RNA Profiling Identifies circ5078 as a BMPR2-Derived Regulator of Endothelial Proliferation and Stress Responses.

环状 RNA 分析鉴定出 circ5078 是 BMPR2 衍生的内皮细胞增殖和应激反应调节因子

VandenBroek M Martin, Sharp Mackenzie C, Thompson Patrick, Fagbola Emmanuel, Quilty Douglas, Mewburn Jeffrey D, Theilmann Anne L, Dunham-Snary Kimberly J, Hemnes Anna R, Cogan Joy D, Austin Eric D, Hamid Rizwan, Archer Stephen L, Renwick Neil, Ormiston Mark L

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

RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and Pericytes

利用RNA-Seq和ChIP-Seq技术鉴定TBX4在人肺成纤维细胞和周细胞中调控的独特和重叠靶基因及通路

Cai, Ying; Yan, Ling; Cogan, Joy D; Hedges, Lora K; Nunley, Bethany; Negretti, Nick; Sucre, Jennifer M S; West, James; Austin, Eric D; Hamid, Rizwan

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

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene

通过商业长读长测序首次对FAME3进行临床诊断,发现MARCHF6基因存在嵌合重复序列扩增。

Perera, B Lakshitha A; Stewart, Russell; Furuta, Yutaka; Ezell, Kimberly M; Rives, Lynette; Nunley, Bethany; McMinn, Ashley; Krokosky, Alyson; Neumann, Serena; Koziura, Mary E; Hamid, Rizwan; Cogan, Joy D; Cassini, Thomas A; Gamazon, Eric R; Phillips Iii, John A; Tinker, Rory J

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

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

对一例未解病例的回顾和代谢组学分析揭示了一种新报道的常染色体显性遗传性先天性糖基化障碍(Iw型),该障碍此前被认为仅为常染色体隐性遗传疾病。

Ezell, Kimberly M; Furuta, Yutaka; Oglesbee, Devin; Pivnick, Eniko K; Rinker, David; Sheehan, Jonathan H; Tinker, Rory J; Hamid, Rizwan; Cogan, Joy D; Rives, Lynette; Neumann, Serena; Corner, Brian; Koziura, Mary; Phillips, John A 3rd

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant

未确诊疾病网络协作方法用于诊断携带嵌合型 CACNA1D 变异的患者所患的罕见病

Ezell, Kimberly M; Tinker, Rory J; Furuta, Yutaka; Gulsevin, Alican; Bastarache, Lisa; Hamid, Rizwan; Cogan, Joy D; Rives, Lynette; Neumann, Serena; Corner, Brian; Kozuria, Mary; Phillips, John A 3rd