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

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency

人类 m6A 阅读器 YTHDC2 中的致病变异与原发性卵巢功能不全有关

Sinéad M McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, Laura Bellutti, Luz Garcia-Alonso, Louise A Ocaka, Miho Ishida, Jenifer P Suntharalingham, Andrey Gagunashvili, Olumide K Ogunbiyi, Talisa Mistry, Federica Buonocore; GOSgene; Berta Crespo, Nadjeda Moreno, Paola Niola, Tony Brooks

ZSWIM7 Is Associated With Human Female Meiosis and Familial Primary Ovarian Insufficiency

ZSWIM7与人类女性减数分裂和家族性原发性卵巢功能不全有关

McGlacken-Byrne, Sinéad M; Le Quesne Stabej, Polona; Del Valle, Ignacio; Ocaka, Louise; Gagunashvili, Andrey; Crespo, Berta; Moreno, Nadjeda; James, Chela; Bacchelli, Chiara; Dattani, Mehul T; Williams, Hywel J; Kelberman, Dan; Achermann, John C; Conway, Gerard S

A recessive PRDM13 mutation results in congenital hypogonadotropic hypogonadism and cerebellar hypoplasia

隐性 PRDM13 突变导致先天性促性腺激素功能低下症和小脑发育不全

Danielle E Whittaker, Roberto Oleari, Louise C Gregory, Polona Le Quesne-Stabej, Hywel J Williams; GOSgene; John G Torpiano, Nancy Formosa, Mario J Cachia, Daniel Field, Antonella Lettieri, Louise A Ocaka, Alyssa Jj Paganoni, Sakina H Rajabali, Kimberley Lh Riegman, Lisa B De Martini, Taro Chaya, Ia

Genetic variant of TTLL11 gene and subsequent ciliary defects are associated with idiopathic scoliosis in a 5-generation UK family

TTLL11 基因的遗传变异和随后的纤毛缺陷与英国 5 代家族的特发性脊柱侧弯有关

Hélène Mathieu, Shunmoogum A Patten, Jose Antonio Aragon-Martin, Louise Ocaka, Michael Simpson, Anne Child, Florina Moldovan

The genetic landscape of crystallins in congenital cataract

先天性白内障中晶状体蛋白的遗传图谱

Berry, Vanita; Ionides, Alex; Pontikos, Nikolas; Georgiou, Michalis; Yu, Jing; Ocaka, Louise A; Moore, Anthony T; Quinlan, Roy A; Michaelides, Michel

Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and Arthrogryposis

MAGEL2 和 L1CAM 基因突变与先天性垂体功能减退症和关节挛缩症相关。

Gregory, Louise C; Shah, Pratik; Sanner, Juliane R F; Arancibia, Monica; Hurst, Jane; Jones, Wendy D; Spoudeas, Helen; Le Quesne Stabej, Polona; Williams, Hywel J; Ocaka, Louise A; Loureiro, Carolina; Martinez-Aguayo, Alejandro; Dattani, Mehul T

Novel missense variants in the RNF213 gene from a European family with Moyamoya disease

来自欧洲烟雾病家族的RNF213基因中的新型错义变异

Gagunashvili, Andrey N; Ocaka, Louise; Kelberman, Daniel; Munot, Pinki; Bacchelli, Chiara; Beales, Philip L; Ganesan, Vijeya

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

快速儿科测序 (RaPS):用于快速诊断危重儿童的综合性实际工作流程

Mestek-Boukhibar, Lamia; Clement, Emma; Jones, Wendy D; Drury, Suzanne; Ocaka, Louise; Gagunashvili, Andrey; Le Quesne Stabej, Polona; Bacchelli, Chiara; Jani, Nital; Rahman, Shamima; Jenkins, Lucy; Hurst, Jane A; Bitner-Glindzicz, Maria; Peters, Mark; Beales, Philip L; Williams, Hywel J

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome

EXTL3基因突变导致神经免疫骨骼发育不良综合征

Machteld M Oud ,Paul Tuijnenburg ,Maja Hempel ,Naomi van Vlies ,Zemin Ren ,Sacha Ferdinandusse ,Machiel H Jansen ,René Santer ,Jessika Johannsen ,Chiara Bacchelli ,Marielle Alders ,Rui Li ,Rosalind Davies ,Lucie Dupuis ,Catherine M Cale ,Ronald J A Wanders ,Steven T Pals ,Louise Ocaka ,Chela James ,Ingo Müller ,Kai Lehmberg ,Tim Strom ,Hartmut Engels ,Hywel J Williams ,Phil Beales ,Ronald Roepman ,Patricia Dias ,Han G Brunner ,Jan-Maarten Cobben ,Christine Hall ,Taila Hartley ,Polona Le Quesne Stabej ,Roberto Mendoza-Londono ,E Graham Davies ,Sérgio B de Sousa ,Davor Lessel ,Heleen H Arts ,Taco W Kuijpers

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

SLC25A22基因突变:高脯氨酸血症、空泡化成纤维细胞和发育迟缓

Reid, Emma S; Williams, Hywel; Anderson, Glenn; Benatti, Malika; Chong, Kling; James, Chela; Ocaka, Louise; Hemingway, Cheryl; Little, Daniel; Brown, Richard; Parker, Alasdair; Holden, Simon; Footitt, Emma; Rahman, Shamima; Gissen, Paul; Mills, Philippa B; Clayton, Peter T