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

Whole-genome sequencing analysis of anthropometric traits in 672,976 individuals reveals convergence between rare and common genetic associations

对 672,976 名个体的全基因组测序分析显示，人体测量特征存在罕见和常见遗传关联，并揭示了二者之间的趋同性。

期刊:Nature Communications
影响因子:15.7
doi:10.1038/s41467-026-69208-3
Hawkes, Gareth; Wright, Harrison I W; Beaumont, Robin N; Chundru, Kartik; Hanson, Aimee; Jackson, Leigh; Murray, Anna; Patel, Kashyap; Frayling, Timothy M; Wright, Caroline F; Wood, Andrew R; Weedon, Michael N
发表日期：2026
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Genotype-first approach reveals monogenic lipodystrophy is underdiagnosed, with health and mortality risks

基因型优先检测方法揭示单基因脂肪营养不良症诊断不足，存在健康和死亡风险。

期刊:EBioMedicine
影响因子:10.8
doi:10.1016/j.ebiom.2026.106255
Sharp, Luke N; Colclough, Kevin; Murray Leech, Jacques; Evans, Amy V; Hattersley, Andrew T; Weedon, Michael N; Brown, Rebecca J; Patel, Kashyap A
发表日期：2026
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Loss of function variants in the primate-specific gene ZNF808 cause neonatal, transient and adult-onset diabetes

灵长类特异性基因 ZNF808 的功能缺失变异会导致新生儿糖尿病、暂时性糖尿病和成人发病型糖尿病。

期刊:EBioMedicine
影响因子:10.8
doi:10.1016/j.ebiom.2025.106113
Russ-Silsby, James; Colclough, Kevin; Johnson, Matthew B; Wakeling, Matthew N; Owens, Nick D L; Amaratunga, Shenali A; Flanagan, Sarah E; Patel, Kashyap A; Hattersley, Andrew T; De Franco, Elisa
糖尿病
代谢
发表日期：2026
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Systematic analysis of loss-of-function variants across MODY genes demonstrates gene-specific effects and expands the spectrum of INS variants causing MODY

对 MODY 基因中功能缺失变异的系统分析表明，这些变异具有基因特异性效应，并扩展了导致 MODY 的 INS 变异谱。

期刊:Diabetologia
影响因子:10.2
doi:10.1007/s00125-026-06685-7
Laver, Thomas W; Sriram, Aparajita; Wakeling, Matthew N; Şiklar, Zeynep; Kobaisi, Farah; Kalyon, Oguzhan; Hattersley, Andrew T; Weedon, Michael N; Flanagan, Sarah E; De Franco, Elisa; Colclough, Kevin; Patel, Kashyap A
发表日期：2026
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Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes

非蛋白质编码的次要剪接体组分 RNU6ATAC 和 RNU4ATAC 的双等位基因变异会导致综合征型单基因自身免疫性糖尿病

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2026.02.017
Johnson, Matthew B; Russ-Silsby, James; Blair, Paul A; Govier, Molly; Bonfield, Georgia; Domingo-Vila, Clara; Wakeling, Matthew N; Oram, Richard A; Flanagan, Sarah E; Tree, Timothy I M; Patel, Kashyap A; Hattersley, Andrew T; De Franco, Elisa
代谢
糖尿病
免疫/内分泌
发表日期：2026
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MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify

MODY在晚发型糖尿病中较为常见，具有靶向治疗的潜力，但识别难度较大。

期刊:Diabetes
影响因子:7.5
doi:10.2337/db25-0545
Sharp, Luke N; Mirshahi, Uyenlinh L; Colclough, Kevin; Hall, Timothy S; Haley, Jeremy S; Cannon, Stuart J; Laver, Thomas W; Weedon, Michael N; Hattersley, Andrew T; Carey, David J; Patel, Kashyap A
糖尿病
代谢
发表日期：2026
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Population Prevalence, Penetrance, and Mortality for Genetically Confirmed MODY

基因确诊的MODY的患病率、外显率和死亡率

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgaf599
Sharp, Luke N; Colclough, Kevin; Murray Leech, Jacques; Cannon, Stuart J; Laver, Thomas W; Hattersley, Andrew T; Weedon, Michael N; Patel, Kashyap A
发表日期：2026
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Children With Diabetes and At Least One Non-Autoimmune Feature Should Be Considered for Monogenic Diabetes Testing

患有糖尿病且至少伴有一种非自身免疫特征的儿童应考虑进行单基因糖尿病检测。

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgaf430
Myers, Rebecca; Yildiz, Melek; Nuri Ozbek, Mehmet; Manzoor, Jaida; Ibrahim, Mohsina; Yajnik, Chittaranjan; Atar, Muge; Şiklar, Zeynep; Acar, Sezer; Globa, Evgenia; Magdy Omar, Omneya; Demirbilek, Huseyin; Hassan, Samar; Demir, Korcan; Hanif, Misbah; Guran, Tulay; Hatipoglu, Nihal; Koçyiğit, Cemil; Colclough, Kevin; Houghton, Jayne; Hattersley, Andrew; Van Heugten, Rachel; Patel, Kashyap
代谢
糖尿病
免疫/内分泌
发表日期：2026
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Characterization of monogenic diabetes among Sudanese children: a multi-center experience from a population with high consanguinity

苏丹儿童单基因糖尿病的特征：来自近亲结婚率较高人群的多中心经验

期刊:Journal of Pediatric Endocrinology & Metabolism
影响因子:1
doi:10.1515/jpem-2025-0316
Hassan, Samar S; Musa, Salwa A; De Franco, Elisa; Myers, Rebbeca; Van Heugten, Racheal; Babiker, Omer O; Ibrahim, Areej A; MohamadSalih, Ghassan F; Ahmed, Amna; Shatta, Jouyriah A; Al-Hassan, Olivia A; Patel, Kashyap A; Abdullah, Mohamed A
糖尿病
代谢
发表日期：2026
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A Prospective Multi-Center Implementation Study to Improve the Diagnosis and Treatment of Benign Paroxysmal Positional Vertigo

一项旨在改善良性阵发性位置性眩晕诊断和治疗的前瞻性多中心实施研究

期刊:Academic Emergency Medicine
影响因子:
doi:10.1111/acem.70177
Ohle, Robert; Roy, Danielle; Baraku, Elger; Patel, Kashyap; Savage, David W; McIsaac, Sarah; Singh, Ravinder; Lelli, Daniel; Tse, Darren; Johns, Peter; Yadav, Krishan; Perry, Jeffrey J
发表日期：2026
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