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

Evaluating algorithmic approaches to rare disease case-finding: a retrospective validation study using electronic health records

评估罕见病病例发现的算法方法：一项使用电子健康记录的回顾性验证研究

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-026-04240-6
Boardman-Pretty, Freya; Kumar, Jyothika; Grant, Calum; Marchini, Elena; Evans, William; Menzies, Lara; Dubis, Rand; Worker, Amanda; Varones, Elizabeth; Warren, Alan; Sams, Jack; Ollerenshaw, Daniel; Stockdale, Jez; Mahon, Hadley; Fish, Peter
发表日期：2026
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The Diagnostic Odyssey in Children and Adolescents With X-linked Hypophosphatemia: Population-Based, Case-Control Study

X连锁低磷血症儿童和青少年诊断历程：一项基于人群的病例对照研究

期刊:Journal of Clinical Endocrinology & Metabolism
影响因子:5.1
doi:10.1210/clinem/dgae069
Boardman-Pretty, Freya; Clift, Ashley Kieran; Mahon, Hadley; Sawoky, Nadine; Mughal, M Zulf
发表日期：2024
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A machine learning algorithm for the detection of paroxysmal nocturnal haemoglobinuria (PNH) in UK primary care electronic health records

一种用于检测英国初级保健电子健康记录中阵发性睡眠性血红蛋白尿症 (PNH) 的机器学习算法

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-024-03406-4
Worker, Amanda; Mahon, Hadley; Sams, Jack; Boardman-Pretty, Freya; Marchini, Elena; Dubis, Rand; Warren, Alan; Stockdale, Jez; Kumar, Jyothika; Varones, Elizabeth; Ollerenshaw, Daniel; Grant, Calum; Fish, Peter; Kelly, Richard J
发表日期：2024
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Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation

全基因组序列通过非HHT有害DNA变异区分遗传性出血性毛细血管扩张症表型

期刊:Blood Advances
影响因子:7.1
doi:10.1182/bloodadvances.2022007136
Joyce, Katie E; Onabanjo, Ebun; Brownlow, Sheila; Nur, Fadumo; Olupona, Kike; Fakayode, Kehinde; Sroya, Manveer; Thomas, Geraldine A; Ferguson, Teena; Redhead, Julian; Millar, Carolyn M; Cooper, Nichola; Layton, D Mark; Boardman-Pretty, Freya; Caulfield, Mark J; Shovlin, Claire L
发表日期：2022
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Identification and validation of a novel pathogenic variant in GDF2 (BMP9) responsible for hereditary hemorrhagic telangiectasia and pulmonary arteriovenous malformations.

鉴定和验证了 GDF2 (BMP9) 中一种新的致病变异，该变异导致遗传性出血性毛细血管扩张症和肺动静脉畸形

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.62584
Balachandar Srimmitha, Graves Tamara J, Shimonty Anika, Kerr Katie, Kilner Jill, Xiao Sihao, Slade Richard, Sroya Manveer, Alikian Mary, Curetean Emanuel, Thomas Ellen, McConnell Vivienne P M, McKee Shane, Boardman-Pretty Freya, Devereau Andrew, Fowler Tom A, Caulfield Mark J, Alton Eric W, Ferguson Teena, Redhead Julian, McKnight Amy J, Thomas Geraldine A, Aldred Micheala A, Shovlin Claire L
其它
血管生成
发表日期：2022
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Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

以颅缝早闭为例，评估临床基因组测序项目在罕见遗传病诊断中的表现

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01297-5
Hyder, Zerin; Calpena, Eduardo; Pei, Yang; Tooze, Rebecca S; Brittain, Helen; Twigg, Stephen R F; Cilliers, Deirdre; Morton, Jenny E V; McCann, Emma; Weber, Astrid; Wilson, Louise C; Douglas, Andrew G L; McGowan, Ruth; Need, Anna; Bond, Andrew; Tavares, Ana Lisa Taylor; Thomas, Ellen R A; Hill, Susan L; Deans, Zandra C; Boardman-Pretty, Freya; Caulfield, Mark; Scott, Richard H; Wilkie, Andrew O M
发表日期：2021
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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

更正：SMAD6 变异与颅缝早闭：基因型和表型评估

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-0886-2
Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M A; Koelling, Nils; McGowan, Simon J; Phipps, Julie M; Balasubramanian, Meena; Cunningham, Michael L; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E V; Shears, Deborah; Weber, Astrid; Wilson, Louise C; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A; Twigg, Stephen R F; Mathijssen, Irene M J; Boardman-Pretty, Freya; Boyadjiev, Simeon A; Wilkie, Andrew O M
发表日期：2020
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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

SMAD6 变异与颅缝早闭：基因型和表型评估

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-0817-2
Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M A; Koelling, Nils; McGowan, Simon J; Phipps, Julie M; Balasubramanian, Meena; Cunningham, Michael L; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E V; Shears, Deborah; Weber, Astrid; Wilson, Louise C; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A; Twigg, Stephen R F; Mathijssen, Irene M J; Boardman-Pretty, Freya; Boyadjiev, Simeon A; Wilkie, Andrew O M
发表日期：2020
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