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

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

双等位基因 KICS2 突变会损害 KICSTOR 复合物介导的 mTORC1 调节，导致智力障碍和癫痫

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.12.019
Buchert Rebecca, Burkhalter Martin D, Huridou Chrisovalantou, Sofan Linda, Roser Timo, Cremer Kirsten, Alvi Javeria Raza, Efthymiou Stephanie, Froukh Tawfiq, Gulieva Sughra, Guliyeva Ulviyya, Hamdallah Moath, Holder-Espinasse Muriel, Kaiyrzhanov Rauan, Klingler Doreen, Koko Mahmoud, Matthies Lars, Park Joohyun, Sturm Marc, Velic Ana, Spranger Stephanie, Sultan Tipu, Engels Hartmut, Lerche Holger, Houlden Henry, Pagnamenta Alistair T, Borggraefe Ingo, Weber Yvonne, Bonnen Penelope E, Maroofian Reza, Riess Olaf, Weber Jonasz J, Philipp Melanie, Haack Tobias B
信号转导
mTOR
发表日期：2025
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Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.

因新型甲状旁腺激素受体 1 型突变引起的甲状旁腺激素抵抗的 Eiken 综合征：临床特征和功能分析

期刊:Journal of Bone and Mineral Research
影响因子:5.9
doi:10.1093/jbmr/zjae148
Calder Alistair D, Allgrove Jeremy, Höppner Jakob, Cheung Moira, Alexander Saji, Garagnani Lorenzo, Thakker Rajesh, Jüppner Harald, Gardella Thomas J, Holder-Espinasse Muriel
信号转导
免疫/内分泌
发表日期：2024
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Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences

在英国开展全国性产前外显子组测序服务：一项探索医疗保健专业人员观点和经验的混合方法研究

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2024.1401705
Peter, Michelle; Mellis, Rhiannon; McInnes-Dean, Hannah; Daniel, Morgan; Walton, Holly; Fisher, Jane; Leeson-Beevers, Kerry; Allen, Stephanie; Baple, Emma L; Beleza-Meireles, Ana; Bertoli, Marta; Campbell, Jennifer; Canham, Natalie; Cilliers, Deirdre; Cobben, Jan; Eason, Jacqueline; Harrison, Victoria; Holder-Espinasse, Muriel; Male, Alison; Mansour, Sahar; McEwan, Alec; Park, Soo-Mi; Smith, Audrey; Stewart, Alison; Tapon, Dagmar; Vasudevan, Pradeep; Williams, Denise; Wu, Wing Han; Chitty, Lyn S; Hill, Melissa
发表日期：2024
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Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review

更正：双膦酸盐治疗Hajdu-Cheney综合征脊柱骨质疏松症——新数据和文献综述

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-019-1084-7
Pittaway, James F H; Harrison, Christopher; Rhee, Yumie; Holder-Espinasse, Muriel; Fryer, Alan E; Cundy, Tim; Drake, William M; Irving, Melita D
代谢
骨质疏松
发表日期：2019
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Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia

对一例携带ACTG1变异、胼胝体发育不全和神经元异位症的病例进行尸检特征分析

期刊:Frontiers in Physiology
影响因子:3.4
doi:10.3389/fphys.2019.00623
Vontell, Regina; Supramaniam, Veena G; Davidson, Alice; Thornton, Claire; Marnerides, Andreas; Holder-Espinasse, Muriel; Lillis, Suzanne; Yau, Shu; Jansson, Mattias; Hagberg, Henrik E; Rutherford, Mary A
发育与干细胞
神经科学
发表日期：2019
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Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

在一例患有巴德-比德尔综合征的新家族中鉴定和表征 IFT27 (BBS19) 基因中已知的双等位基因突变

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2019.00021
Schaefer, Elise; Delvallée, Clarisse; Mary, Laura; Stoetzel, Corinne; Geoffroy, Véronique; Marks-Delesalle, Caroline; Holder-Espinasse, Muriel; Ghoumid, Jamal; Dollfus, Hélène; Muller, Jean
发表日期：2019
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Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review

双膦酸盐治疗Hajdu-Cheney综合征脊柱骨质疏松症——新数据和文献综述

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-018-0795-5
Pittaway, James F H; Harrison, Christopher; Rhee, Yumie; Holder-Espinasse, Muriel; Fryer, Alan E; Cundy, Tim; Drake, William M; Irving, Melita D
代谢
骨质疏松
发表日期：2018
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The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

SHH基因中一种新型肢体顺式调控元件的破坏与常染色体显性遗传的前轴多指-多毛症相关。

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2015.53
Petit, Florence; Jourdain, Anne-Sophie; Holder-Espinasse, Muriel; Keren, Boris; Andrieux, Joris; Duterque-Coquillaud, Martine; Porchet, Nicole; Manouvrier-Hanu, Sylvie; Escande, Fabienne
信号转导
SHH
发表日期：2016
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Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

MITF 基本结构域的新型和复发性非截断突变：瓦尔登堡综合征和蒂茨综合征的基因型和表型变异

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/ejhg.2011.234
Léger, Sandy; Balguerie, Xavier; Goldenberg, Alice; Drouin-Garraud, Valérie; Cabot, Annick; Amstutz-Montadert, Isabelle; Young, Paul; Joly, Pascal; Bodereau, Virginie; Holder-Espinasse, Muriel; Jamieson, Robyn V; Krause, Amanda; Chen, Hongsheng; Baumann, Clarisse; Nunes, Luis; Dollfus, Hélène; Goossens, Michel; Pingault, Véronique
MITF
发表日期：2012
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[Community-acquired pneumonia in adults with Down syndrome. Three clinical cases and a review of the literature]

【唐氏综合征成人社区获得性肺炎：三例临床病例报告及文献综述】

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-0784-7
Cuvertino, Sara; Hartill, Verity; Colyer, Alice; Garner, Terence; Nair, Nisha; Al-Gazali, Lihadh; Canham, Natalie; Faundes, Victor; Flinter, Frances; Hertecant, Jozef; Holder-Espinasse, Muriel; Jackson, Brian; Lynch, Sally Ann; Nadat, Fatima; Narasimhan, Vagheesh M; Peckham, Michelle; Sellers, Robert; Seri, Marco; Montanari, Francesca; Southgate, Laura; Squeo, Gabriella Maria; Trembath, Richard; van Heel, David; Venuto, Santina; Weisberg, Daniel; Stals, Karen; Ellard, Sian; Barton, Anne; Kimber, Susan J; Sheridan, Eamonn; Merla, Giuseppe; Stevens, Adam; Johnson, Colin A; Banka, Siddharth; Hermida Pérez, JA; Hernández Guerra, JS
肺炎
发表日期：2010
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