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

PIK3R1, HRAS and AR Gene Alterations Associated with Sclerosing Polycystic Adenoma of the Parotid Gland

PIK3R1、HRAS 和 AR 基因改变与腮腺硬化性多囊腺瘤相关

期刊:Current Issues in Molecular Biology
影响因子:3
doi:10.3390/cimb45020061
Bahmad, Hisham F; Elhammady, Gina; Gass, Jennifer M; Paramo, Juan C; Poppiti, Robert; Alexis, John
RAS
发表日期：2023
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Twelve-Year Survival in a Patient With Systemic Sclerosis-Associated Pulmonary Arterial Hypertension on Nifedipine Monotherapy

接受硝苯地平单药治疗的系统性硬化症相关肺动脉高压患者的12年生存情况

期刊:Mayo Clinic Proceedings Innovations Quality Outcomes
影响因子:
doi:10.1016/j.mayocpiqo.2019.06.002
Helgeson, Scott A; Enderby, Cher Y; Moss, John E; Gass, Jennifer M; Zeiger, Tonya K; Burger, Charles D
肺动脉高压
心血管
系统性硬化症
免疫/内分泌
发表日期：2019
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Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome.

AEBP1 的双等位基因改变导致胶原蛋白组装和结缔组织结构缺陷，从而导致埃勒斯-当洛斯综合征的变异型

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.02.018
Blackburn Patrick R, Xu Zhi, Tumelty Kathleen E, Zhao Rose W, Monis William J, Harris Kimberly G, Gass Jennifer M, Cousin Margot A, Boczek Nicole J, Mitkov Mario V, Cappel Mark A, Francomano Clair A, Parisi Joseph E, Klee Eric W, Faqeih Eissa, Alkuraya Fowzan S, Layne Matthew D, McDonnell Nazli B, Atwal Paldeep S
免疫/内分泌
发表日期：2018
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Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

一例伴有广泛颅内钙化和低钙血症的个体同时存在一种新的PDGFRB变异和CASR中的可能致病性变异

期刊:Clinical Case Reports
影响因子:0.6
doi:10.1002/ccr3.1265
DeMeo, Natasha N; Burgess, Jeremy D; Blackburn, Patrick R; Gass, Jennifer M; Richter, John; Atwal, Herjot K; van Gerpen, Jay A; Atwal, Paldeep S
CASR
PDGFRB
发表日期：2018
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Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and Angioedema

对TNFAIP3基因中与慢性荨麻疹和血管性水肿家族疾病相关的错义变异进行全外显子组测序和分子建模

期刊:Case Reports in Genetics
影响因子:
doi:10.1155/2018/6968395
Harris, Antoneicka L; Blackburn, Patrick R; Richter, John E Jr; Gass, Jennifer M; Caulfield, Thomas R; Mohammad, Ahmed N; Atwal, Paldeep S
麻疹
AIP
发表日期：2018
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Maple syrup urine disease: mechanisms and management

枫糖尿症：机制和治疗

期刊:Application of Clinical Genetics
影响因子:2.8
doi:10.2147/TACG.S125962
Blackburn, Patrick R; Gass, Jennifer M; Vairo, Filippo Pinto E; Farnham, Kristen M; Atwal, Herjot K; Macklin, Sarah; Klee, Eric W; Atwal, Paldeep S
发表日期：2017
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A Case of Two Repeats: Huntington's Disease and Spinocerebellar Ataxia Type 8

两种疾病同时发作的病例：亨廷顿病和8型脊髓小脑性共济失调

期刊:Movement Disorders Clinical Practice
影响因子:2.7
doi:10.1002/mdc3.12401
Gass, Jennifer M; McKay, Jake; Guthrie, Kimberly J; Boczek, Nicole; Atwal, Paldeep S; Van Gerpen, Jay
神经科学
发表日期：2017
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Late onset asymptomatic pancreatic neuroendocrine tumor - A case report on the phenotypic expansion for MEN1

迟发性无症状胰腺神经内分泌肿瘤——MEN1表型扩增病例报告

期刊:Hereditary Cancer in Clinical Practice
影响因子:2.4
doi:10.1186/s13053-017-0070-0
Kaiwar, Charu; Macklin, Sarah K; Gass, Jennifer M; Jackson, Jessica; Klee, Eric W; Hines, Stephanie L; Stauffer, John A; Atwal, Paldeep S
MEN1
肿瘤
肿瘤免疫
发表日期：2017
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Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1

对一名疑似线粒体肌病患者进行全外显子组测序，发现RYR1基因存在新的复合杂合变异。

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.280
Blackburn, Patrick R; Selcen, Duygu; Gass, Jennifer M; Jackson, Jessica L; Macklin, Sarah; Cousin, Margot A; Boczek, Nicole J; Klee, Eric W; Dimberg, Elliot L; Kennelly, Kathleen D; Atwal, Paldeep S
RYR
RYR1
线粒体
发表日期：2017
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A novel splice site variant in CYP11A1 in trans with the p.E314K variant in a male patient with congenital adrenal insufficiency

在一名患有先天性肾上腺皮质功能不全的男性患者中，CYP11A1基因中存在一种新的剪接位点变异，与p.E314K变异呈反式关系。

期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.322
Lara-Velazquez, Montserrat; Perdomo-Pantoja, Alexander; Blackburn, Patrick R; Gass, Jennifer M; Caulfield, Thomas R; Atwal, Paldeep S
免疫/内分泌
发表日期：2017
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