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。

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

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

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

Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon Signalling

RNU4ATAC基因突变与冻疮样病变和I型干扰素信号增强有关

Robertson, Nic; Joshi, Aakash; Ritchie, Francesca; Schim van der Loeff, Ina; Royan, David; Duker, Angela L; Rice, Gillian I; Bober, Michael B; Mansour, Sahar; Campbell, David I; Brennan, Mary; Brown, Lindsay; Jones, Laura; Williams, Eleri; Jackson, Andrew P; Crow, Yanick J

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

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

Molecular and epidemiological surveillance of Plasmodium spp. during a mortality event affecting Humboldt penguins (Spheniscus humboldti) at a zoo in the UK

英国一家动物园洪堡企鹅(Spheniscus humboldti)死亡事件期间疟原虫属的分子和流行病学监测

González-Olvera, Merit; Hernandez-Colina, Arturo; Himmel, Tanja; Eckley, Lindsay; Lopez, Javier; Chantrey, Julian; Baylis, Matthew; Jackson, Andrew P

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。

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

Variant antigen diversity in Trypanosoma vivax is not driven by recombination

锥虫(Trypanosoma vivax)的变异抗原多样性并非由重组驱动。

Silva Pereira, Sara; de Almeida Castilho Neto, Kayo J G; Duffy, Craig W; Richards, Peter; Noyes, Harry; Ogugo, Moses; Rogério André, Marcos; Bengaly, Zakaria; Kemp, Steve; Teixeira, Marta M G; Machado, Rosangela Z; Jackson, Andrew P

Defining the clinical phenotype of Saul-Wilson syndrome

明确索尔-威尔逊综合征的临床表型

Ferreira, Carlos R; Zein, Wadih M; Huryn, Laryssa A; Merker, Andrea; Berger, Seth I; Wilson, William G; Tiller, George E; Wolfe, Lynne A; Merideth, Melissa; Carvalho, Daniel R; Duker, Angela L; Bratke, Heiko; Haug, Marte Gjøl; Rohena, Luis; Hove, Hanne B; Xia, Zhi-Jie; Ng, Bobby G; Freeze, Hudson H; Gabriel, Melissa; Russi, Alvaro H Serrano; Brick, Lauren; Kozenko, Mariya; Earl, Dawn L; Tham, Emma; Nishimura, Gen; Phillips, John A 3rd; Gahl, William A; Hamid, Rizwan; Jackson, Andrew P; Grigelioniene, Giedre; Bober, Michael B

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

利用连锁读取基因组测序技术,在DONSON基因中鉴定出双等位基因致病变异,发现其是Meier-Gorlin综合征的一种新病因。

Knapp, Karen M; Sullivan, Rosie; Murray, Jennie; Gimenez, Gregory; Arn, Pamela; D'Souza, Precilla; Gezdirici, Alper; Wilson, William G; Jackson, Andrew P; Ferreira, Carlos; Bicknell, Louise S

Growth in individuals with Saul-Wilson syndrome

患有索尔-威尔逊综合征的个体的生长发育情况

Ferreira, Carlos R; Niiler, Timothy; Duker, Angela L; Jackson, Andrew P; Bober, Michael B