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

The Experiences of Families in Family-Integrated Approaches to Neonatal and Infant Pain Management in the Neonatal Intensive Care Unit: A Systematic Review

新生儿重症监护病房中家庭参与新生儿和婴儿疼痛管理方法的经验:系统评价

Goddard, James; Homfray, James; Govindaswamy, Priya; Ilhan, Emre

Fetal Bradycardia Prompting the Diagnosis and Management of Parental Long QT Syndrome

胎儿心动过缓提示父母长QT间期综合征的诊断和治疗

Ananthan, Kiruthika; Chivers, Sian; Regan, Will; de Marvao, Antonio; Vigneswaran, Trisha; Rosenthal, Eric; Zidere, Vita; Homfray, Tessa; Williamson, Catherine; Simpson, John M; Bastiaenen, Rachel; Whitaker, John

A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice

在英国一家综合性私人诊所中,全基因组生殖系检测作为辅助筛查工具的可行性研究

Jones, Ann-Britt; Pichert, Gabriella; Side, Lucy; Homfray, Tessa; McVeigh, Terri; Hicks, Sophie; Williams, Catrina; Pellerin, Denis; Cirigliano, Vincenzo; Leon, Miriam; Palao, Bibiana; Izquierdo, Luis; Ordonez, Elena; Gongora, Elena; Davies, Catriona; Healy, Jeremiah; Thomas, Robert; Narayanan, Priya; Al Shakarchi, Ghada; Amin, Zahir; Dadaev, Tokhir; Bancroft, Elizabeth; Kote-Jarai, Zsofia; Eeles, Rosalind; Sandberg, Michael

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

对携带致病性新生突变的婴儿出生后进行个性化复发风险评估

Bernkopf, Marie; Abdullah, Ummi B; Bush, Stephen J; Wood, Katherine A; Ghaffari, Sahar; Giannoulatou, Eleni; Koelling, Nils; Maher, Geoffrey J; Thibaut, Loïc M; Williams, Jonathan; Blair, Edward M; Kelly, Fiona Blanco; Bloss, Angela; Burkitt-Wright, Emma; Canham, Natalie; Deng, Alexander T; Dixit, Abhijit; Eason, Jacqueline; Elmslie, Frances; Gardham, Alice; Hay, Eleanor; Holder, Muriel; Homfray, Tessa; Hurst, Jane A; Johnson, Diana; Jones, Wendy D; Kini, Usha; Kivuva, Emma; Kumar, Ajith; Lees, Melissa M; Leitch, Harry G; Morton, Jenny E V; Németh, Andrea H; Ramachandrappa, Shwetha; Saunders, Katherine; Shears, Deborah J; Side, Lucy; Splitt, Miranda; Stewart, Alison; Stewart, Helen; Suri, Mohnish; Clouston, Penny; Davies, Robert W; Wilkie, Andrew O M; Goriely, Anne

Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis

短扩增子逆转录-聚合酶链式反应可检测血液中低表达基因的异常剪接,而这些异常剪接是临床诊断中核糖核酸测序分析所遗漏的。

Wai, Htoo A; Constable, Matthew; Drewes, Cosima; Davies, Ian C; Svobodova, Eliska; Dempsey, Esther; Saggar, Anand; Homfray, Tessa; Mansour, Sahar; Douzgou, Sofia; Barr, Kate; Mercer, Catherine; Hunt, David; Douglas, Andrew G L; Baralle, Diana

Expanding the phenotype of TAB2 variants and literature review

扩展TAB2变异体的表型及文献综述

Woods, Emily; Marson, Imogen; Coci, Emanuele; Spiller, Michael; Kumar, Ajith; Brady, Angela; Homfray, Tessa; Fisher, Richard; Turnpenny, Peter; Rankin, Julia; Kanani, Farah; Platzer, Konrad; Ververi, Athina; Emmanouilidou, Eleftheria; Bourboun, Nourxan; Giannakoulas, George; Balasubramanian, Meena

Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis

胎儿水肿与下一代测序相对于标准产前诊断检测的增量收益(FIND)研究:前瞻性队列研究和荟萃分析

Mone, F; Eberhardt, R Y; Hurles, M E; Mcmullan, D J; Maher, E R; Lord, J; Chitty, L S; Dempsey, E; Homfray, T; Giordano, J L; Wapner, R J; Sun, L; Sparks, T N; Norton, M E; Kilby, M D

Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

ATAD3基因簇中反复发生的从头NAHR相互重复导致一种神经遗传特征,该特征与胆固醇和线粒体代谢紊乱有关。

Gunning, Adam C; Strucinska, Klaudia; Muñoz Oreja, Mikel; Parrish, Andrew; Caswell, Richard; Stals, Karen L; Durigon, Romina; Durlacher-Betzer, Karina; Cunningham, Mitchell H; Grochowski, Christopher M; Baptista, Julia; Tysoe, Carolyn; Baple, Emma; Lahiri, Nayana; Homfray, Tessa; Scurr, Ingrid; Armstrong, Catherine; Dean, John; Fernandez Pelayo, Uxoa; Jones, Aleck W E; Taylor, Robert W; Misra, Vinod K; Yoon, Wan Hee; Wright, Caroline F; Lupski, James R; Spinazzola, Antonella; Harel, Tamar; Holt, Ian J; Ellard, Sian

Diagnostic yield of hypertrophic cardiomyopathy in first-degree relatives of decedents with idiopathic left ventricular hypertrophy

特发性左心室肥厚患者一级亲属中肥厚型心肌病的诊断率

Finocchiaro, Gherardo; Dhutia, Harshil; Gray, Belinda; Ensam, Bode; Papatheodorou, Stathis; Miles, Chris; Malhotra, Aneil; Fanton, Zeph; Bulleros, Paulo; Homfray, Tessa; Witney, Adam A; Bunce, Nicholas; Anderson, Lisa J; Ware, James S; Sharma, Rajan; Tome, Maite; Behr, Elijah R; Sheppard, Mary N; Papadakis, Michael; Sharma, Sanjay

Activating Mutations of the G-protein Subunit α 11 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2

G蛋白亚基α11结构域间界面激活突变导致常染色体显性低钙血症2型

Gorvin, Caroline M; Stokes, Victoria J; Boon, Hannah; Cranston, Treena; Glück, Anna K; Bahl, Shailini; Homfray, Tessa; Aung, Theingi; Shine, Brian; Lines, Kate E; Hannan, Fadil M; Thakker, Rajesh V