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

Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death

评估基因组测序在围产期死亡后的临床应用价值

Schubert, Camille M; Jackson, Matilda R; Barnett, Christopher P; Scott, Hamish S; Sullivan, Thomas; Goodall, Stephen; Merlin, Tracy

Patients' perspectives regarding health professionals contacting their relatives about genetic risk directly (with patient consent)

患者对医务人员在征得患者同意后直接联系其亲属告知遗传风险的看法

Tiller, Jane; Finlay, Keri; Madelli, Evanthia O; Monnik, Melissa; Jackson, Matilda R; Poplawski, Nicola; Boughtwood, Tiffany; Nowak, Kristen J; Otlowski, Margaret

Atypical presentations of fetal polycystic kidney disease demonstrates the utility of a genomic autopsy for accurate post-mortem diagnoses

胎儿多囊肾病的非典型表现表明基因组尸检对于准确的死后诊断具有实用价值。

Frank, Mahalia S B; Bennett, Melissa K; Ha, Thuong T; Moore, Lynette; Arts, Peer; Byrne, Alicia B; Babic, Milena; Arriola-Martinez, Luis; Toubia, John; Brautigan, Peter J; Feng, Jinghua; Schwarz, Quenten; Thomas, Paul Q; Piltz, Sandra G; White, Melissa A; Moghimi, Ali; Strachan, Kate; Kwan, Edward; Springer, Amanda; Lewit-Mendes, Miranda; Dearman, Jarrad; Davis, Tenielle; Kevin, Lucy; McCarthy, Hugh J; Liebelt, Jan; Krzesinski, Emma; Regan, Matthew; Verma, Kunal; McGillivray, George; Jayasinghe, Kushani; Jackson, Matilda R; Barnett, Christopher P; Scott, Hamish S

Persistent interferon signaling and clonal expansion mark early events in DNA methylation damage-induced liver cancer

持续的干扰素信号传导和克隆扩增标志着DNA甲基化损伤诱导的肝癌的早期事件。

Pribyl, Lee J; Kay, Jennifer E; Corrigan, Joshua J; Volk, Lindsay B; Norales, Monét; Owiti, Norah A; Kowal, Evan A; Kohale, Ishwar N; Nazari, Ilana S; Swanson, Matilda R; Moise, Aimee C; Ma, Duanduan; Levine, Stuart S; Michelsen, Emily; Croy, Robert G; Ragan, Timothy; Torous, Dorothea K; Avlasevich, Svetlana L; Dertinger, Stephen D; Carrasco, Sebastian E; Samson, Leona D; Essigmann, John M; White, Forest M; Engelward, Bevin P

Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

作者更正:基因组尸检用于识别妊娠丢失和围产期死亡的根本原因

Byrne, Alicia B; Arts, Peer; Ha, Thuong T; Kassahn, Karin S; Pais, Lynn S; O'Donnell-Luria, Anne; Babic, Milena; Frank, Mahalia S B; Feng, Jinghua; Wang, Paul; Lawrence, David M; Eshraghi, Leila; Arriola, Luis; Toubia, John; Nguyen, Hung; McGillivray, George; Pinner, Jason; McKenzie, Fiona; Morrow, Rebecca; Lipsett, Jill; Manton, Nick; Khong, T Yee; Moore, Lynette; Liebelt, Jan E; Schreiber, Andreas W; King-Smith, Sarah L; Hardy, Tristan S E; Jackson, Matilda R; Barnett, Christopher P; Scott, Hamish S

Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion

揭示MECOM相关综合征的各个方面:体细胞基因拯救、克隆性造血和表型扩展

Venugopal, Parvathy; Arts, Peer; Fox, Lucy C; Simons, Annet; Hiwase, Devendra K; Bardy, Peter G; Swift, Annette; Ross, David M; van Vulpen, Lize F D; Buijs, Arjan; Bolton, Kelly L; Getta, Bartlomiej; Furlong, Eliska; Carter, Tina; Krapels, Ingrid; Hoeks, Marlijn; Al Kindy, Adila; Al Kindy, Farah; de Munnik, Sonja; Evans, Pamela; Frank, Mahalia S B; Bournazos, Adam M; Cooper, Sandra T; Ha, Thuong Thi; Jackson, Matilda R; Arriola-Martinez, Luis; Phillips, Kerry; Brennan, Yvonne; Bakshi, Madhura; Ambler, Karen; Gao, Song; Kassahn, Karin S; Kenyon, Rosalie; Hung, Kevin; Babic, Milena; McGovern, Alan; Rawlings, Lesley; Vakulin, Cassandra; Dejong, Lucas; Fathi, Rema; McRae, Simon; Myles, Nicholas; Ladon, Dariusz; Jongmans, Marjolijn; Kuiper, Roland P; Poplawski, Nicola K; Barbaro, Pasquale; Blombery, Piers; Brown, Anna L; Hahn, Christopher N; Scott, Hamish S

Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications

Introme能够准确预测编码和非编码变异对基因剪接的影响,并具有临床应用价值。

Sullivan, Patricia J; Gayevskiy, Velimir; Davis, Ryan L; Wong, Marie; Mayoh, Chelsea; Mallawaarachchi, Amali; Hort, Yvonne; McCabe, Mark J; Beecroft, Sarah; Jackson, Matilda R; Arts, Peer; Dubowsky, Andrew; Laing, Nigel; Dinger, Marcel E; Scott, Hamish S; Oates, Emily; Pinese, Mark; Cowley, Mark J

The glucose tolerance test in mice: Sex, drugs and protocol

小鼠葡萄糖耐量试验:性别、药物和试验方案

Kennard, Matilda R; Nandi, Manasi; Chapple, Sarah; King, Aileen J

Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders

将 NUP85 突变的表型从肾病综合征扩展到原发性常染色体隐性小头畸形和塞克尔综合征谱系障碍

Ethiraj Ravindran, Ramona Jühlen, Carlos H Vieira-Vieira, Thuong Ha, Yuval Salzberg, Boris Fichtman, Lena Luise-Becker, Nuno Martins, Sylvie Picker-Minh, Paraskevi Bessa, Peer Arts, Matilda R Jackson, Ajay Taranath, Benjamin Kamien, Christopher Barnett, Na Li, Victor Tarabykin, Gisela Stoltenburg-Di

Heterozygous loss of function of IQSEC2/ Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

IQSEC2/Iqsec2 杂合功能丧失导致女性 Arf6 活性增加和严重的神经认知癫痫表型

Matilda R Jackson, Karagh E Loring, Claire C Homan, Monica Hn Thai, Laura Määttänen, Maria Arvio, Irma Jarvela, Marie Shaw, Alison Gardner, Jozef Gecz, Cheryl Shoubridge