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

Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome

脑和血液中与普拉德-威利综合征认知和精神表型相关的转录组特征

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-025-33041-3
Shahrokhi, Shokouh; Baker, Emma K; See, Michael; Ramialison, Mirana; Gamage, Dinusha; Rossello, Fernando J; Heussler, Helen; Duhig, Michael; Nicholls, Robert D; Hannan, Anthony J; Southey, Melissa C; Veatch, Olivia; Hossain, Waheeda; Bui, Minh; Amor, David J; Butler, Merlin G; Godler, David E
神经科学
发表日期：2025
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High-throughput assessment of FMR1 and SNRPN methylation-based newborn screening using IsoPure and QIAcube HT systems

利用 IsoPure 和 QIAcube HT 系统对基于 FMR1 和 SNRPN 甲基化的新生儿筛查进行高通量评估

期刊:Epigenomics
影响因子:2.6
doi:10.1080/17501911.2025.2544530
Cartagena, Caleb; Alshawsh, Mohammed; Bui, Minh Q; Gamage, Dinusha; Thakor, Rajvi P; Pitt, James; Greaves, Ronda F; Wall, Meg; Saffery, Richard; Amor, David J; Godler, David E
表观遗传
发表日期：2025
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Genomic Screening Consortium for Australian Newborns (GenSCAN)

澳大利亚新生儿基因组筛查联盟（GenSCAN）

期刊:Journal of Paediatrics and Child Health
影响因子:1.4
doi:10.1111/jpc.70131
Taylor, Natalie; Pirreca, Michelle; Bennetts, Bruce; Ho, Gladys; Boggs, Kirsten; Kassahn, Karin S; Anastasi, Lucy; Godler, David Eugeny; Alshawsh, Mohammed; Norris, Sarah; Scarfe, Joanne; Boughtwood, Tiffany; Baynam, Gareth; Burns, Belinda; Ranieri, Enzo; Caruana, Jade; Lunke, Sebastian; Best, Stephanie; Stark, Zornitza
发表日期：2025
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Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns

澳大利亚新生儿智力障碍和自闭症特征的表观基因组筛查

期刊:Epigenomics
影响因子:2.6
doi:10.1080/17501911.2024.2402681
Alshawsh, Mohammed; Wake, Melissa; Gecz, Jozef; Corbett, Mark; Saffery, Richard; Pitt, James; Greaves, Ronda; Williams, Katrina; Field, Michael; Cheong, Jeanie; Bui, Minh; Arora, Sheena; Sadedin, Simon; Lunke, Sebastian; Wall, Meg; Amor, David J; Godler, David E
自闭症
表观遗传
神经科学
发表日期：2024
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Defining the 3'Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome

确定FMR1启动子的3'表观遗传边界及其在脆性X综合征患者中的缺失

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms241310712
Godler, David E; Inaba, Yoshimi; Bui, Minh Q; Francis, David; Skinner, Cindy; Schwartz, Charles E; Amor, David J
表观遗传
发表日期：2023
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Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome

脆性X综合征男性患者的组织嵌合现象、FMR1表达和智力功能

期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.63027
Baker, Emma K; Arpone, Marta; Bui, Minh; Kraan, Claudine M; Ling, Ling; Francis, David; Hunter, Mathew F; Rogers, Carolyn; Field, Michael J; Santa María, Lorena; Faundes, Víctor; Curotto, Bianca; Morales, Paulina; Trigo, Cesar; Salas, Isabel; Alliende, Angelica M; Amor, David J; Godler, David E
发表日期：2023
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Feasibility of Screening for Chromosome 15 Imprinting Disorders in 16 579 Newborns by Using a Novel Genomic Workflow

利用新型基因组工作流程对 16579 名新生儿进行 15 号染色体印记障碍筛查的可行性研究

期刊:Jama Network Open
影响因子:9.7
doi:10.1001/jamanetworkopen.2021.41911
Godler, David E; Ling, Ling; Gamage, Dinusha; Baker, Emma K; Bui, Minh; Field, Michael J; Rogers, Carolyn; Butler, Merlin G; Murgia, Alessandra; Leonardi, Emanuela; Polli, Roberta; Schwartz, Charles E; Skinner, Cindy D; Alliende, Angelica M; Santa Maria, Lorena; Pitt, James; Greaves, Ronda; Francis, David; Oertel, Ralph; Wang, Min; Simons, Cas; Amor, David J
发表日期：2022
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Relationships between UBE3A and SNORD116 expression and features of autism in chromosome 15 imprinting disorders

UBE3A 和 SNORD116 表达与 15 号染色体印记障碍中自闭症特征的关系

期刊:Translational Psychiatry
影响因子:6.2
doi:10.1038/s41398-020-01034-7
Baker, Emma K; Butler, Merlin G; Hartin, Samantha N; Ling, Ling; Bui, Minh; Francis, David; Rogers, Carolyn; Field, Michael J; Slee, Jennie; Gamage, Dinusha; Amor, David J; Godler, David E
UBE3A
自闭症
神经科学
发表日期：2020
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FMR1 mRNA from full mutation alleles is associated with ABC-C(FX) scores in males with fragile X syndrome

来自完全突变等位基因的FMR1 mRNA与脆性X综合征男性患者的ABC-C(FX)评分相关。

期刊:Scientific Reports
影响因子:3.9
doi:10.1038/s41598-020-68465-6
Baker, Emma K; Arpone, Marta; Kraan, Claudine; Bui, Minh; Rogers, Carolyn; Field, Michael; Bretherton, Lesley; Ling, Ling; Ure, Alexandra; Cohen, Jonathan; Hunter, Matthew F; Santa María, Lorena; Faundes, Victor; Curotto, Bianca; Morales, Paulina; Trigo, Cesar; Salas, Isabel; Alliende, Angelica; Amor, David J; Godler, David E
发表日期：2020
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DNA Methylation at Birth Predicts Intellectual Functioning and Autism Features in Children with Fragile X Syndrome

出生时的 DNA 甲基化可预测脆性 X 综合征患儿的智力功能和自闭症特征

期刊:International Journal of Molecular Sciences
影响因子:0.7
doi:10.3390/ijms21207735
Claudine M Kraan, Emma K Baker, Marta Arpone, Minh Bui, Ling Ling, Dinusha Gamage, Lesley Bretherton, Carolyn Rogers, Michael J Field, Tiffany L Wotton, David Francis, Matt F Hunter, Jonathan Cohen, David J Amor, David E Godler
表观遗传
自闭症
DNA甲基化
发表日期：2020
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