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

Rakeiora Genomics Platform: a pathfinder for genomic medicine research in Aotearoa New Zealand

拉凯奥拉基因组学平台:新西兰基因组医学研究的先行者

Rye, Claire E; Puketapu-Watson, Huti; Wihongi, Helen; Aika, Ben Te; Macartney-Coxson, Donia; de Ligt, Joep; Print, Cristin G; Le Quesne Stabej, Polona; Tsai, Peter; Curran, Ben; Jones, Nick; Huh, Jun; Perkins, E Owen; Pestle, Matt; Zhao, Kenny; Halytskyy, Yuriy; Robertson, Stephen P; Halliday, Benjamin J; Goodin, Elizabeth; Markie, David M; Lamont, Alastair; Wilcox, Phillip

Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand

纳米孔测序和快速基因组学可行性基准测试:在新西兰一家四级医院的验证

Nyaga, Denis M; Tsai, Peter; Gebbie, Clare; Phua, Hui Hui; Yap, Patrick; Le Quesne Stabej, Polona; Farrow, Sophie; Rong, Jing; Toldi, Gergely; Thorstensen, Eric; Stark, Zornitza; Lunke, Sebastian; Gamet, Kimberley; Van Dyk, Jodi; Greenslade, Mark; O'Sullivan, Justin M

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism

双等位基因 ATP2B1 变异可能是导致一种伴有原发性甲状旁腺功能减退的新型神经发育畸形综合征的原因

Yap, Patrick; Riley, Lisa G; Kakadia, Purvi M; Bohlander, Stefan K; Curran, Ben; Rahimi, Meer Jacob; Alburaiky, Salam; Hayes, Ian; Oppermann, Henry; Print, Cristin; Cooper, Sandra T; Le Quesne Stabej, Polona

Alternative splicing generates isoform diversity in MEN1

MEN1 中的选择性剪接产生异构体多样性

Ramachandran, Anassuya; Le Quesne Stabej, Polona; Boyle, Veronica; Elston, Marianne S; Pattison, Sharon; Lawrence, Ben; Print, Cris

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

DOT1L 中罕见的新生获得功能错义变异与发育迟缓和先天性异常有关

Zelha Nil, Ashish R Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani, Polona Le Quesne Stabej, Ian Hayes, Patrick Yap, Chad Haldeman-Englert, Carolyn Wilson, Trine Prescott, Kristian Tveten, Arve Vøllo, Devon Haynes, Patricia G Wheeler, Jessica Zon, Cheryl Cytrynbaum, Rebekah Jobling, Moir

Complex Patterns of Genomic Heterogeneity Identified in 42 Tumor Samples and ctDNA of a Pulmonary Atypical Carcinoid Patient

在42个肿瘤样本和一名肺非典型类癌患者的ctDNA中发现了复杂的基因组异质性模式

Tamsin J Robb ,Peter Tsai ,Sandra Fitzgerald ,Paula Shields ,Pascalene S Houseman ,Rachna Patel ,Vicky Fan ,Ben Curran ,Rexson Tse ,Jacklyn Ting ,Nicole Kramer ,Braden J Woodhouse ,Esther Coats ,Polona Le Quesne Stabej ,Jane Reeve ,Kate Parker ,Ben Lawrence # ,Cherie Blenkiron # ,Cristin G Print #

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

Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency

RNPC3基因的致病性变异与垂体功能减退和原发性卵巢功能不全有关。

Akin, Leyla; Rizzoti, Karine; Gregory, Louise C; Corredor, Beatriz; Le Quesne Stabej, Polona; Williams, Hywel; Buonocore, Federica; Mouilleron, Stephane; Capra, Valeria; McGlacken-Byrne, Sinead M; Martos-Moreno, Gabriel Á; Azmanov, Dimitar N; Kendirci, Mustafa; Kurtoglu, Selim; Suntharalingham, Jenifer P; Galichet, Christophe; Gustincich, Stefano; Tasic, Velibor; Achermann, John C; Accogli, Andrea; Filipovska, Aleksandra; Tuilpakov, Anatoly; Maghnie, Mohamad; Gucev, Zoran; Gonen, Zeynep Burcin; Pérez-Jurado, Luis A; Robinson, Iain; Lovell-Badge, Robin; Argente, Jesús; Dattani, Mehul T

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