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

Identification of expanded and interrupted ATXN2 repeat expansions in Parkinson's disease and Lewy Body Dementia cohorts

在帕金森病和路易体痴呆患者群体中鉴定出扩增和中断的ATXN2重复序列

Wang, Longfei; Milton, Michael; Fearnley, Liam G; Bhalala, Oneil G; Bahlo, Melanie; Rafehi, Haloom

A prospective trial comparing programmable targeted long-read sequencing and short-read genome sequencing for genetic diagnosis of cerebellar ataxia

一项前瞻性试验比较了可编程靶向长读长测序和短读长基因组测序在小脑共济失调基因诊断中的应用。

Rafehi, Haloom; Fearnley, Liam G; Read, Justin; Snell, Penny; Davies, Kayli C; Scott, Liam; Gillies, Greta; Thompson, Genevieve C; Field, Tess A; Eldo, Aleena; Bodek, Simon; Butler, Ernest; Chen, Luke; Drago, John; Goel, Himanshu; Hackett, Anna; Halmagyi, G Michael; Hannaford, Andrew; Kotschet, Katya; Kumar, Kishore R; Kumble, Smitha; Lee-Archer, Matthew; Malhotra, Abhishek; Paine, Mark; Poon, Michael; Pope, Kate; Reardon, Katrina; Ring, Steven; Ronan, Anne; Silsby, Matthew; Smyth, Renee; Stutterd, Chloe; Wallis, Mathew; Waterston, John; Wellings, Thomas; West, Kirsty; Wools, Christine; Wu, Kathy H C; Szmulewicz, David J; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J

Peripheral immune cell abundance differences link blood mitochondrial DNA copy number and Parkinson's disease

外周免疫细胞丰度差异与血液线粒体DNA拷贝数和帕金森病相关

Wang, Longfei; Han, Jiru; Fearnley, Liam G; Milton, Michael; Rafehi, Haloom; Reid, Joshua; Gerring, Zachary F; Masaldan, Shashank; Lang, Tali; Speed, Terence P; Bahlo, Melanie

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

基因组和RNA测序将神经肌肉疾病的诊断率从仅使用外显子组测序的34%提高到62%。

Marchant, Rhett G; Bryen, Samantha J; Bahlo, Melanie; Cairns, Anita; Chao, Katherine R; Corbett, Alastair; Davis, Mark R; Ganesh, Vijay S; Ghaoui, Roula; Jones, Kristi J; Kornberg, Andrew J; Lek, Monkol; Liang, Christina; MacArthur, Daniel G; Oates, Emily C; O'Donnell-Luria, Anne; O'Grady, Gina L; Osei-Owusu, Ikeoluwa A; Rafehi, Haloom; Reddel, Stephen W; Roxburgh, Richard H; Ryan, Monique M; Sandaradura, Sarah A; Scott, Liam W; Valkanas, Elise; Weisburd, Ben; Young, Helen; Evesson, Frances J; Waddell, Leigh B; Cooper, Sandra T

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

澳大利亚首个以成人为中心的未确诊疾病项目(AHA-UDP)的经验:解决罕见且令人困惑的遗传疾病不分年龄

Wallis, Mathew; Bodek, Simon D; Munro, Jacob; Rafehi, Haloom; Bennett, Mark F; Ye, Zimeng; Schneider, Amy; Gardiner, Fiona; Valente, Giulia; Murdoch, Emma; Uebergang, Eloise; Hunter, Jacquie; Stutterd, Chloe; Huq, Aamira; Salmon, Lucinda; Scheffer, Ingrid; Eratne, Dhamidhu; Meyn, Stephen; Fong, Chun Y; John, Tom; Mullen, Saul; White, Susan M; Brown, Natasha J; McGillivray, George; Chen, Jesse; Richmond, Chris; Hughes, Andrew; Krzesinski, Emma; Fennell, Andrew; Chambers, Brian; Santoreneos, Renee; Le Fevre, Anna; Hildebrand, Michael S; Bahlo, Melanie; Christodoulou, John; Delatycki, Martin; Berkovic, Samuel F

Reduced methylation correlates with diabetic nephropathy risk in type 1 diabetes

1型糖尿病患者的甲基化水平降低与糖尿病肾病风险相关

Khurana, Ishant; Kaipananickal, Harikrishnan; Maxwell, Scott; Birkelund, Sørine; Syreeni, Anna; Forsblom, Carol; Okabe, Jun; Ziemann, Mark; Kaspi, Antony; Rafehi, Haloom; Jørgensen, Anne; Al-Hasani, Keith; Thomas, Merlin C; Jiang, Guozhi; Luk, Andrea Oy; Lee, Heung Man; Huang, Yu; Thewjitcharoen, Yotsapon; Nakasatien, Soontaree; Himathongkam, Thep; Fogarty, Christopher; Njeim, Rachel; Eid, Assaad; Hansen, Tine Willum; Tofte, Nete; Ottesen, Evy C; Ma, Ronald Cw; Chan, Juliana Cn; Cooper, Mark E; Rossing, Peter; Groop, Per-Henrik; El-Osta, Assam

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14

FGF14基因内含子GAA重复序列扩增导致常染色体显性遗传的成人发病型共济失调SCA27B/ATX-FGF14

Rafehi, Haloom; Read, Justin; Szmulewicz, David J; Davies, Kayli C; Snell, Penny; Fearnley, Liam G; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F; Munro, Jacob E; Ngo, Kathie J; Chen, Luke; Wallis, Mathew J; Butler, Ernest G; Kumar, Kishore R; Wu, Kathy Hc; Tomlinson, Susan E; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A; Roberts, Leslie J; Fogel, Brent L; Brüggemann, Norbert; Lohmann, Katja; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J

An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14

FGF14基因内含子GAA重复序列扩增导致常染色体显性遗传的成人发病型共济失调SCA50/ATX-FGF14

Rafehi, Haloom; Read, Justin; Szmulewicz, David J; Davies, Kayli C; Snell, Penny; Fearnley, Liam G; Scott, Liam; Thomsen, Mirja; Gillies, Greta; Pope, Kate; Bennett, Mark F; Munro, Jacob E; Ngo, Kathie J; Chen, Luke; Wallis, Mathew J; Butler, Ernest G; Kumar, Kishore R; Wu, Kathy Hc; Tomlinson, Susan E; Tisch, Stephen; Malhotra, Abhishek; Lee-Archer, Matthew; Dolzhenko, Egor; Eberle, Michael A; Roberts, Leslie J; Fogel, Brent L; Brüggemann, Norbert; Lohmann, Katja; Delatycki, Martin B; Bahlo, Melanie; Lockhart, Paul J

Exploring THAP11 Repeat Expansion beyond Chinese-Ancestry Cohorts: An Examination of 1000 Genomes and UK Biobank Data

探索THAP11重复序列扩增在华裔人群之外的分布:基于千人基因组计划和英国生物银行数据的分析

Fearnley, Liam G; Rafehi, Haloom; Bennett, Mark F; Bahlo, Melanie

Characterization of K562 cells: uncovering novel chromosomes, assessing transferrin receptor expression, and probing pharmacological therapies

K562 细胞的表征:发现新的染色体、评估转铁蛋白受体的表达以及探索药物疗法

Tom C Karagiannis, Meaghan Wall, Katherine Ververis, Eleni Pitsillou, Stephanie M Tortorella, Peter A Wood, Haloom Rafehi, Ishant Khurana, Scott S Maxwell, Andrew Hung, Jitraporn Vongsvivut, Assam El-Osta