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

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures

剪接体因子 CRNKL1 的复发性新生变异与严重的头小畸形和伴有癫痫发作的脑桥小脑发育不全有关。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2025.05.013
Ray Das, Sankalita; Sullivan, Rosie; Ruegg, Mischa S G; Horsfield, Julia; Doran, Jordan; Poke, Gemma; de Vries, Nathalie; Duerinckx, Sarah; Lederer, Damien; Haniffa, Muzhirah; Keng, Wee-Teik; Ch'ng, Gaik-Siew; Parry, David A; Jackson, Andrew P; Sakamoto, Masamune; Matsumoto, Naomichi; Miyake, Noriko; Nabatame, Shin; Taniguchi, Hidetoshi; Wakeling, Emma; Õunap, Katrin; Ilves, Pilvi; Mirzaa, Ghayda; Timms, Andrew; Pao, Emily; Aldinger, Kimberly A; Dobyns, William; Bohring, Axel; Behre, Beate; Calame, Daniel G; Lupski, James R; Pascual, Juan M; Abramowicz, Marc; Gimenez, Gregory; Bicknell, Louise S
发育与干细胞
癫痫
神经科学
发表日期：2025
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CDK4 loss-of-function mutations cause microcephaly and short stature.

CDK4 功能丧失突变会导致小头畸形和身材矮小

期刊:Genes & Development
影响因子:7.7
doi:10.1101/gad.352311.124
Verdu Schlie Aitana, Leitch Andrea, Arismendi Maria Izabel, Stok Colin, Castro Leal Andrea, Parry David A, Marcondes Lerario Antonio, Harley Margaret E, Lucheze Bruna, Carroll Paula L, Musialik Kamila I, Auer Julia M T, Martin Carol-Anne, Gerasimavicius Lukas, Quigley Alan J, de Menezes Correia-Deur Joya Emilie, Marsh Joseph A, Reijns Martin A M, Lampe Anne K, Jackson Andrew P, Jorge Alexander A L, Tamayo-Orrego Lukas
其它
发表日期：2025
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Lymphoid B cells upregulate HIV-1 ex vivo and are linked to its expression in vivo.

淋巴样B细胞在体外可上调HIV-1，并且与HIV-1在体内的表达有关。

期刊:PLoS Pathogens
影响因子:4.9
doi:10.1371/journal.ppat.1013661
Ollerton Matthew T, Folkvord Joy M, Bush Veronica, Parry David A, Meditz Amie L, McCarter Martin D, Yost Fred, Shikuma Cecilia M, Connick Elizabeth
HIV
细胞生物学
B细胞
发表日期：2025
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Cornified Epithelial Teeth of Jawless Vertebrates Contain Proteins Similar to Keratin-Associated Proteins of Mammalian Skin Appendages

无颌脊椎动物的角质化上皮牙齿含有与哺乳动物皮肤附属器角蛋白相关蛋白相似的蛋白质

期刊:Journal of Developmental Biology
影响因子:2.5
doi:10.3390/jdb13020018
Sachslehner, Attila Placido; Parry, David A D; Eckhart, Leopold
发表日期：2025
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50 Years of the steric-blocking mechanism in vertebrate skeletal muscle: a retrospective

脊椎动物骨骼肌空间位阻机制50年回顾

期刊:Journal of Muscle Research and Cell Motility
影响因子:1.7
doi:10.1007/s10974-022-09619-z
Parry, David A D
发表日期：2023
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Publisher Correction: Signatures of TOP1 transcription-associated mutagenesis in cancer and germline

出版商更正：癌症和生殖系中TOP1转录相关突变的特征

期刊:Nature
影响因子:48.5
doi:10.1038/s41586-022-04812-z
Reijns, Martin A M; Parry, David A; Williams, Thomas C; Nadeu, Ferran; Hindshaw, Rebecca L; Rios Szwed, Diana O; Nicholson, Michael D; Carroll, Paula; Boyle, Shelagh; Royo, Romina; Cornish, Alex J; Xiang, Hang; Ridout, Kate; Schuh, Anna; Aden, Konrad; Palles, Claire; Campo, Elias; Stankovic, Tatjana; Taylor, Martin S; Jackson, Andrew P
TOP1
肿瘤
肿瘤免疫
发表日期：2022
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Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

层粘蛋白B1和层粘蛋白B2的杂合变异会导致原发性小头畸形，并定义了一种新的层粘蛋白病。

期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-020-00980-3
Parry, David A; Martin, Carol-Anne; Greene, Philip; Marsh, Joseph A; Blyth, Moira; Cox, Helen; Donnelly, Deirdre; Greenhalgh, Lynn; Greville-Heygate, Stephanie; Harrison, Victoria; Lachlan, Katherine; McKenna, Caoimhe; Quigley, Alan J; Rea, Gillian; Robertson, Lisa; Suri, Mohnish; Jackson, Andrew P
发表日期：2021
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Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease

小头畸形骨发育不良原始侏儒症II型与全身血管疾病相关

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-021-01852-y
Duker, Angela L; Kinderman, Dagmar; Jordan, Christy; Niiler, Tim; Baker-Smith, Carissa M; Thompson, Louise; Parry, David A; Carroll, Ricki S; Bober, Michael B
发育与干细胞
发表日期：2021
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Structures of the ß-Keratin Filaments and Keratin Intermediate Filaments in the Epidermal Appendages of Birds and Reptiles (Sauropsids)

鸟类和爬行动物（蜥形纲）表皮附属物中β-角蛋白丝和角蛋白中间丝的结构

期刊:Genes
影响因子:2.8
doi:10.3390/genes12040591
Parry, David A D
Bird
发表日期：2021
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Biallelic variants in DNA2 cause microcephalic primordial dwarfism

DNA2基因的双等位基因变异导致小头畸形原始侏儒症

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23776
Tarnauskaitė, Žygimantė; Bicknell, Louise S; Marsh, Joseph A; Murray, Jennie E; Parry, David A; Logan, Clare V; Bober, Michael B; de Silva, Deepthi C; Duker, Angela L; Sillence, David; Wise, Carol; Jackson, Andrew P; Murina, Olga; Reijns, Martin A M
DNA2
发表日期：2019
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