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

Congenital Mirror Movements in A Family with TUBB2B Mutation

TUBB2B基因突变家族中的先天性镜像运动

Shah, Suhani; Hegde, Anaita Udwadia; Rajarajan, Kavya; Panwala, Hiren

Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study

支持在数字时代大规模开展新生儿基因组筛查的决策:BabyScreen+ 研究

Downie, Lilian; Caruana, Jade; Kugenthiran, Nathasha; Kanga-Parabia, Anaita; Tutty, Erin; Bombard, Yvonne; Clausen, Marc; Bouffler, Sophie; Gaff, Clara; Archibald, Alison D; Lunke, Sebastian; Stark, Zornitza

Experiences of perinatal genetic screening for people from migrant and refugee backgrounds: a scoping review

针对移民和难民背景人群的围产期基因筛查经验:一项范围界定综述

Kanga-Parabia, Anaita; Archibald, Alison D; Biggs, Laura J; Lewis, Sharon; Tutty, Erin; Dawson-McClaren, Belinda

Efficacy and Safety of Altibrain(®) as an Adjunctive Therapy for Autism Spectrum Disorder: An Open Label Trial Targeting Core Symptoms

Altibrain®作为自闭症谱系障碍辅助疗法的疗效和安全性:一项针对核心症状的开放标签试验

Mehan, Sidharth; Kumar, Aakash; Utage, Prashant R; Hegde, Anaita; Naik, Neeta; Kondekar, Santosh; Yardi, Nandan; Desai, Neelu; Panigrahi, Debasis; Chattopadhyay, Arijit; Agarwal, Sasmita Devi; Gupta, Vineet Bhushan; Tiwari, Ankita; Reddy, Sai Chandar; Saraf, Sandeep; Das, Diptanshu; Detroja, Mayank; Paliwal, Charu

Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study

BabyScreen+ 基因组新生儿筛查研究的可行性、可接受性和临床结果

Lunke, Sebastian; Downie, Lilian; Caruana, Jade; Kugenthiran, Nathasha; De Fazio, Paul; Hollizeck, Sebastian; Bouffler, Sophie E; Amor, David J; Archibald, Alison D; Bombard, Yvonne; Christodoulou, John; Clausen, Marc; Fagan, Wendy; Gaff, Clara; Greaves, Ronda F; Gyngell, Christopher; Kanga-Parabia, Anaita; Lang, Nitzan; Lee, Crystle; Lynch, Fiona; Marty, Anthony; Marty, Melanie; McGregor, Candice; Riseley, Jessica; Sadedin, Simon; Scarff, Katrina; da Cunha Torres, Michelle; Tutty, Erin; Vang, Ching; Wall, Meaghan; Wong, Ee Ming; Yeung, Alison; Goranitis, Ilias; Best, Stephanie; Vears, Danya F; Stark, Zornitza

Evaluation of a two-step model of opportunistic genomic screening

对机会性基因组筛查的两步模型进行评估

Martyn, Melissa; Lee, Ling; Jan, Alli; Lynch, Elly; Weerasuriya, Rona; Kanga-Parabia, Anaita; Gaff, Clara

Secondary use of genomic data: patients' decisions at point of testing and perspectives to inform international data sharing

基因组数据的二次利用:患者在检测时的决策以及对国际数据共享的启示

Martyn, Melissa; Forbes, Emily; Lee, Ling; Kanga-Parabia, Anaita; Weerasuriya, Rona; Lynch, Elly; Gleeson, Penny; Gaff, Clara

Long-term safety of dexamethasone sodium phosphate encapsulated in autologous erythrocytes in pediatric patients with ataxia telangiectasia

自体红细胞包裹的磷酸地塞米松钠在毛细血管扩张性共济失调患儿中的长期安全性

Koenig, Mary Kay; Leuzzi, Vincenzo; Gouider, Riadh; Yiu, Eppie M; Pietrucha, Barbara; Stray-Pedersen, Asbjørg; Perlman, Susan L; Wu, Steve; Burgers, Trudy; Borgohain, Rupam; Kandadai, Rukmini Mridula; Meyts, Isabelle; Bucciol, Giorgia; Udwadia-Hegde, Anaita; Yadav, Ravi; Roberts, Donna; Dane, Aaron; Roden, Maureen; Thye, Dirk; Horn, Biljana; Lederman, Howard M; Whitehouse, William P

Prospective cohort study of genomic newborn screening: BabyScreen+ pilot study protocol

前瞻性队列研究:新生儿基因组筛查:BabyScreen+试点研究方案

Lunke, Sebastian; Bouffler, Sophie E; Downie, Lilian; Caruana, Jade; Amor, David J; Archibald, Alison; Bombard, Yvonne; Christodoulou, John; Clausen, Marc; De Fazio, Paul; Greaves, Ronda F; Hollizeck, Sebastian; Kanga-Parabia, Anaita; Lang, Nitzan; Lynch, Fiona; Peters, Riccarda; Sadedin, Simon; Tutty, Erin; Eggers, Stefanie; Lee, Crystle; Wall, Meaghan; Yeung, Alison; Gaff, Clara; Gyngell, Christopher; Vears, Danya F; Best, Stephanie; Goranitis, Ilias; Stark, Zornitza

Genetic counseling workforce diversity, inclusion, and capacity in Australia and New Zealand

澳大利亚和新西兰遗传咨询从业人员的多样性、包容性和能力

Kanga-Parabia, Anaita; Mitchell, Lucas; Smyth, Renee; Kapoor, Trisha; Duggal, Jaitika; Pearn, Amy; Williams, Rachel; Courtney, Eliza; Edwards, Emma; Bowman, Michelle; Belekar, Mithila; Gaff, Clara; Nisselle, Amy