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

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations

因疑似局灶性脑畸形而需手术治疗的婴儿癫痫痉挛综合征的遗传概况和分类

期刊:Brain Communications
影响因子:4.1
doi:10.1093/braincomms/fcaf034
Matthew Coleman, Min Wang, Penny Snell, Wei Shern Lee, Colleen D'Arcy, Cristina Mignone, Kate Pope, Greta Gillies, Wirginia Maixner, Alison Wray, A Simon Harvey, Cas Simons, Richard J Leventer, Sarah E M Stephenson, Paul J Lockhart, Katherine B Howell
神经
癫痫
发表日期：2025
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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

选择性交配和父母遗传相关性导致可变表达变异的致病性

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.10.015
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne-Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope
信号转导
Human
发表日期：2023
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Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

选择性交配和父母遗传相关性驱动可变表达变异的致病性

期刊:
影响因子:
doi:10.1101/2023.05.18.23290169
Corrine Smolen, Matthew Jensen, Lisa Dyer, Lucilla Pizzo, Anastasia Tyryshkina, Deepro Banerjee, Laura Rohan, Emily Huber, Laila El Khattabi, Paolo Prontera, Jean-Hubert Caberg, Anke Van Dijck, Charles Schwartz, Laurence Faivre, Patrick Callier, Anne-Laure Mosca-Boidron, Mathilde Lefebvre, Kate Pope
信号转导
Human
发表日期：2023
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COVID-19 Vaccination Status and Concerns Among People Who Use Drugs in Oregon

俄勒冈州吸毒人群的新冠疫苗接种情况及担忧

期刊:Journal of Addiction Medicine
影响因子:3.2
doi:10.1097/ADM.0000000000001002
Stack, Erin; Shin, Sarah; LaForge, Kate; Pope, Justine; Leichtling, Gillian; Larsen, Jessica E; Byers, Mikaela; Leahy, Judith M; Hoover, Daniel; Chisholm, Laura; Korthuis, P Todd
微生物学
新冠
发表日期：2022
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Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans

核孔蛋白 TPR（易位启动子区，核篮蛋白）的致病变异会导致人类严重的智力障碍

期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddab248
Nicole J Van Bergen, Katrina M Bell, Kirsty Carey, Russell Gear, Sean Massey, Edward K Murrell, Lyndon Gallacher, Kate Pope, Paul J Lockhart, Andrew Kornberg, Lynn Pais, Marzena Walkiewicz, Cas Simons; MCRI Rare Diseases Flagship; Vihandha O Wickramasinghe, Susan M White, John Christodoulou
信号转导
Human
EGFR
发表日期：2022
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Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

第二次 DEPDC5 突变仅限于 IIA 型皮质发育不良中的畸形神经元

期刊:Annals of Clinical and Translational Neurology
影响因子:4.4
doi:10.1002/acn3.50815
Wei Shern Lee, Sarah E M Stephenson, Katherine B Howell, Kate Pope, Greta Gillies, Alison Wray, Wirginia Maixner, Simone A Mandelstam, Samuel F Berkovic, Ingrid E Scheffer, Duncan MacGregor, Anthony Simon Harvey, Paul J Lockhart, Richard J Leventer
神经
发表日期：2019
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Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder

从外周血单核细胞中生成七种 iPSC 系，适用于研究自闭症谱系障碍

期刊:Stem Cell Research
影响因子:0.8
doi:10.1016/j.scr.2019.101516
Kiymet Bozaoglu, Yujing Gao, Edouard Stanley, Miriam Fanjul-Fernández, Natasha J Brown, Kate Pope, Cherie C Green, Katerina Vlahos, Koula Sourris, Melanie Bahlo, Martin Delatycki, Ingrid Scheffer, Paul J Lockhart0
免疫
神经
细胞生物学
自闭症
单核细胞
发表日期：2019
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Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

SLC25A46 功能丧失导致致命的先天性小脑桥脑发育不全

期刊:Brain
影响因子:10.6
doi:10.1093/brain/aww212
Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik-Schöneborn, Kate Pope, Katherine B Howell, Catriona A McLean, Andrew J Kornberg, Jörg Joseph, Paul J Lockhart, Klaus Zerres, Monique M Ryan, Stanley F Nelson, Carla M Koehler, Joanna C Jen
信号转导
发表日期：2016
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Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency

HSD17B4杂合突变导致青少年过氧化物酶体D-双功能蛋白缺乏

期刊:Neurology-Genetics
影响因子:3
doi:10.1212/NXG.0000000000000114
David J Amor, Ashley P L Marsh, Elsdon Storey, Rick Tankard, Greta Gillies, Martin B Delatycki, Kate Pope, Catherine Bromhead, Richard J Leventer, Melanie Bahlo, Paul J Lockhart
信号转导
发表日期：2016
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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

AMPD2 缺失导致胼胝体完全发育不全、小脑桥脑发育不全和轴突性神经病变

期刊:Neurology-Genetics
影响因子:3
doi:10.1212/NXG.0000000000000014
Ashley P L Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard, Monique M Ryan, Eppie M Yiu, Joe C H Sim, Martin B Delatycki, David J Amor, George McGillivray, Elliott H Sherr, Melanie Bahlo, Richard J Leventer, Paul J Lockhart
神经
发表日期：2015
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