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

Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data

通过SNP芯片数据推断共享祖先单倍型来识别携带罕见疾病变异的个体

期刊:NAR Genomics and Bioinformatics
影响因子:2.8
doi:10.1093/nargab/lqaf033
Robertson, Erandee; Grinton, Bronwyn E; Oliver, Karen L; Fearnley, Liam G; Hildebrand, Michael S; Sadleir, Lynette G; Scheffer, Ingrid E; Berkovic, Samuel F; Bennett, Mark F; Bahlo, Melanie
发表日期：2025
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Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

更正：儿童言语障碍的遗传病因：大脑发育过程中共同表达的新通路

期刊:Molecular Psychiatry
影响因子:10.1
doi:10.1038/s41380-022-01879-y
Kaspi, Antony; Hildebrand, Michael S; Jackson, Victoria E; Braden, Ruth; van Reyk, Olivia; Howell, Tegan; Debono, Simone; Lauretta, Mariana; Morison, Lottie; Coleman, Matthew J; Webster, Richard; Coman, David; Goel, Himanshu; Wallis, Mathew; Dabscheck, Gabriel; Downie, Lilian; Baker, Emma K; Parry-Fielder, Bronwyn; Ballard, Kirrie; Harrold, Eva; Ziegenfusz, Shaun; Bennett, Mark F; Robertson, Erandee; Wang, Longfei; Boys, Amber; Fisher, Simon E; Amor, David J; Scheffer, Ingrid E; Bahlo, Melanie; Morgan, Angela T
信号转导
发育与干细胞
神经科学
发表日期：2023
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Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

儿童言语障碍的遗传病因：大脑发育过程中共同表达的新通路

期刊:Molecular Psychiatry
影响因子:10.1
doi:10.1038/s41380-022-01764-8
Kaspi, Antony; Hildebrand, Michael S; Jackson, Victoria E; Braden, Ruth; van Reyk, Olivia; Howell, Tegan; Debono, Simone; Lauretta, Mariana; Morison, Lottie; Coleman, Matthew J; Webster, Richard; Coman, David; Goel, Himanshu; Wallis, Mathew; Dabscheck, Gabriel; Downie, Lilian; Baker, Emma K; Parry-Fielder, Bronwyn; Ballard, Kirrie; Harrold, Eva; Ziegenfusz, Shaun; Bennett, Mark F; Robertson, Erandee; Wang, Longfei; Boys, Amber; Fisher, Simon E; Amor, David J; Scheffer, Ingrid E; Bahlo, Melanie; Morgan, Angela T
信号转导
发育与干细胞
神经科学
发表日期：2023
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A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure

导致儿童期癫痫主要表现形式的奠基事件，在微弱的选择压力下存活了800年。

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2022.10.004
Grinton, Bronwyn E; Robertson, Erandee; Fearnley, Liam G; Scheffer, Ingrid E; Marson, Anthony G; O'Brien, Terence J; Pickrell, W Owen; Rees, Mark I; Sisodiya, Sanjay M; Balding, David J; Bennett, Mark F; Bahlo, Melanie; Berkovic, Samuel F; Oliver, Karen L
癫痫
神经科学
发表日期：2022
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