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

A machine learning classifier to identify and prioritise genes associated with murine cardiac development

一种用于识别和优先排序与小鼠心脏发育相关的基因的机器学习分类器

Kabir, Mitra; Hartill, Verity; Farr Iii, Gist H; Shaikh Qureshi, Wasay Mohiuddin; Baross, Stephanie L; Doig, Andrew J; Talavera, David; Waterfield, Michael R; Keavney, Bernard D; Maves, Lisa; Johnson, Colin A; Hentges, Kathryn E

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B

由编码磷酸二酯酶 1B 的 PDE1B 基因双等位基因变异引起的早发性运动障碍综合征

Poleg, Tomer; Hadar, Noam; Kristal, Eyal; Roberts, Nicola Y; Dolgin, Vadim; Aminov, Ilana; Safran, Amit; Agam, Nadav; Jean, Matan; Freund, Ofek; Sheridan, Eamonn G; Poulter, James A; Thompson, Michelle L; Algoos, Yusra; Al-Qahtani, Salma; AlAbdi, Lama; Maddirevula, Sateesh; Hartill, Verity; Houlden, Henry; Maroofian, Reza; Nahum, Amit; Birk, Ohad S

Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project

在“十万基因组计划”先天性心脏病队列中进行分子诊断和候选基因鉴定

Hartill, Verity; Kabir, Mitra; Best, Sunayna; Shaikh Qureshi, Wasay Mohiuddin; Baross, Stephanie L; Lord, Jenny; Yu, Jing; Sasaki, Erina; Needham, Hazel; Shears, Deborah; Roche, Matthew; Wall, Elizabeth; Cooper, Nicola; Ryan, Gavin; Eason, Jacqueline; Johnson, Robert; Keavney, Bernard; Hentges, Kathryn E; Johnson, Colin A

RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.

RNF2 错义变异破坏多梳蛋白抑制,并在人类神经分化过程中实现异位间充质谱系转化

Ryan Charles W, Regan Samantha L, Sheingold Jason B, Goswami Anupam, Mulhern Maureen, Ploeger Jonathan, Huang Samuel, Hartill Verity, Rippert Alyssa, Bhoj Elizabeth, Chung Wendy K, Bain Jennifer, Srivastava Kinshuk Raj, Bielas Stephanie L

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

77,539 个基因组的遗传关联分析揭示了罕见疾病的病因

Daniel Greene; Genomics England Research Consortium; Daniela Pirri, Karen Frudd, Ege Sackey, Mohammed Al-Owain, Arnaud P J Giese, Khushnooda Ramzan, Sehar Riaz, Itaru Yamanaka, Nele Boeckx, Chantal Thys, Bruce D Gelb, Paul Brennan, Verity Hartill, Julie Harvengt, Tomoki Kosho, Sahar Mansour, Mitsuo

Cold temperature and aridity shape the evolution of drought tolerance traits in Tasmanian species of Eucalyptus

寒冷和干旱影响着塔斯马尼亚桉树物种耐旱性状的演化。

Hartill, Gabrielle E; Blackman, Chris J; Halliwell, Benjamin; Jones, Rebecca C; Holland, Barbara R; Brodribb, Timothy J

Workload effects of online consultation implementation from a Job-Characteristics Model perspective: a qualitative study

从工作特征模型视角探讨在线咨询实施对工作量的影响:一项定性研究

Smart, Cordet; Newman, Craig; Hartill, Lisa; Bunce, Sian; McCormick, John

The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase

SHDRA 综合征相关基因 TMEM260 编码一种蛋白质特异性 O-甘露糖基转移酶

Ida Signe Bohse Larsen, Lorenzo Povolo, Luping Zhou, Weihua Tian, Kasper Johansen Mygind, John Hintze, Chen Jiang, Verity Hartill, Katrina Prescott, Colin A Johnson, Sureni V Mullegama, Allyn McConkie-Rosell, Marie McDonald, Lars Hansen, Sergey Y Vakhrushev, Katrine T Schjoldager, Henrik Clausen, Th

Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

HERC2 的新型功能丧失突变与严重的发育迟缓和儿科死亡有关

Marilena Elpidorou, Sunayna Best, James A Poulter, Verity Hartill, Emma Hobson, Eamonn Sheridan, Colin A Johnson

A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome

特定类型的KMT2D错义变异会导致一种与歌舞伎综合征不同的多发性畸形疾病。

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