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

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

BTB结构域突变干扰KCTD15寡聚化,导致一种独特的额鼻发育不良综合征。

Miller, Kerry A; Cruz Walma, David A; Pinkas, Daniel M; Tooze, Rebecca S; Bufton, Joshua C; Richardson, William; Manning, Charlotte E; Hunt, Alice E; Cros, Julien; Hartill, Verity; Parker, Michael J; McGowan, Simon J; Twigg, Stephen R F; Chalk, Rod; Staunton, David; Johnson, David; Wilkie, Andrew O M; Bullock, Alex N

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

Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances

梅克尔-格鲁伯综合征:诊断、临床治疗和研究进展的最新进展

Hartill, Verity; Szymanska, Katarzyna; Sharif, Saghira Malik; Wheway, Gabrielle; Johnson, Colin A

[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】

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