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

COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA

全面的基因研究揭示了阻塞性睡眠呼吸暂停的异质性通路

Justice, Anne E; Keenan, Brendan T; Chittoor, Geetha; Pahl, Matthew C; Hoskens, Hanne; Josyula, Navya Shilpa; Gupta, Shreyash; Kim, Soriul; Thorleifsson, Gudmar; Manduchi, Elisabetta; Gutierrez, Alejandro; Oliveira, Fernando Andrade; Ackert-Bicknell, Cheryl L; Benediktsdóttir, Bryndís; Boero, Jaime; Borthwick, Kenneth M; Chen, Ning-Hung; Cistulli, Peter A; Favazzo, Lacey J; Gottlieb, Daniel J; Hákonarson, Hákon; Kirchner, H Lester; Magalang, Ulysses J; Malow, Beth A; Mazzotti, Diego R; McArdle, Nigel; Mentch, Frank D; Morgentheler, Timothy I; Penzel, Thomas; Pippin, James A; Rasmussen-Torvik, Laura J; Shin, Chol; Singh, Bhajan; Sofer, Tamar; Veatch, Olivia J; Villani, David A; Wells, Andrew D; Williams, Marc S; Zee, Phyllis; Zuscik, Michael J; Jonsdottir, Ingileif; Gislason, Thorarinn; Robishaw, Janet; Stefánsson, Kári; Grant, Struan Fa; Hallgrimsson, Benedikt; Pack, Allan I

Integration of GWAS, QTLs and keratinocyte functional assays reveals molecular mechanisms of atopic dermatitis.

GWAS、QTL 和角质形成细胞功能检测的整合揭示了特应性皮炎的分子机制

Oliva Meritxell, Sarkar Mrinal K, March Michael E, Saeidian Amir Hossein, Mentch Frank D, Hsieh Chen-Lin, Tang Fanying, Uppala Ranjitha, Patrick Matthew T, Li Qinmengge, Bogle Rachael, Kahlenberg J Michelle, Watson Deborah, Glessner Joseph T, Youssefian Leila, Vahidnezhad Hassan, Tsoi Lam C, Hakonarson Hakon, Gudjonsson Johann E, Smith Kathleen M, Riley-Gillis Bridget

Risk of Alzheimer's disease in Down syndrome: Insights gained by multi-omics

唐氏综合征患者罹患阿尔茨海默病的风险:多组学研究的启示

Qu, Hui-Qi; Liu, Yichuan; Connolly, John J; Mentch, Frank D; Kao, Charlly; Hakonarson, Hakon

Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome

深度学习算法揭示了唐氏综合征儿童群体中焦虑症的基因组标记

Liu, Yichuan; Qu, Hui-Qi; Chang, Xiao; Mentch, Frank D; Qiu, Haijun; Torkamandi, Shahram; Nguyen, Kenny; Ostberg, Kayleigh; Wang, Tiancheng; Glessner, Joseph; Hakonarson, Hakon

Unsupervised machine learning integrates genomic variants and EMR to unravel mechanisms of brain hemorrhage and epilepsy as early indicators of Alzheimer's in down syndrome

无监督机器学习整合基因组变异和电子病历,揭示唐氏综合征患者脑出血和癫痫的早期机制,以此作为阿尔茨海默病的早期指标。

Liu, Yichuan; Qu, Hui-Qi; Chang, Xiao; Mentch, Frank D; Qiu, Haijun; Nguyen, Kenny; Eister, Garnet; Ostberg, Kayleigh; Glessner, Joseph; Hakonarson, Hakon

Copy number variations contribute to malignant tumor development in children with serious birth defects

拷贝数变异会导致患有严重先天缺陷的儿童发生恶性肿瘤。

Liu, Yichuan; Glessner, Joseph; Qu, Hui-Qi; Chang, Xiao; Qiu, Haijun; Wang, Tiancheng; Mentch, Frank D; Hakonarson, Hakon

Polygenic risk for autism spectrum disorder based on four group comparison across term and preterm birth

基于足月儿和早产儿四组比较的自闭症谱系障碍多基因风险

Wenger, Brittany M; Chang, Xiao; Mentch, Frank D; Chaiyachati, Barbara H; DeMauro, Sara B; Hakonarson, Hakon

Deciphering protective genomic factors of tumor development in pediatric Down syndrome via deep learning approach to whole genome and RNA sequencing

利用深度学习方法对全基因组和RNA测序数据进行分析,以揭示唐氏综合征患儿肿瘤发生的保护性基因组因子。

Liu, Yichuan; Qu, Hui-Qi; Chang, Xiao; Mentch, Frank D; Qiu, Haijun; Nguyen, Kenny; Ostberg, Kayleigh; Wang, Tiancheng; Glessner, Joseph; Hakonarson, Hakon

Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes

一项跨祖先全基因组关联研究探讨了青春期身高纵向增长及其与成年期健康结果的共同遗传性

Bradfield, Jonathan P; Kember, Rachel L; Ulrich, Anna; Balkhiyarova, Zhanna; Alyass, Akram; Aris, Izzuddin M; Bell, Joshua A; Broadaway, K Alaine; Chen, Zhanghua; Chai, Jin-Fang; Davies, Neil M; Fernandez-Orth, Dietmar; Bustamante, Mariona; Fore, Ruby; Ganguli, Amitavo; Heiskala, Anni; Hottenga, Jouke-Jan; Íñiguez, Carmen; Kobes, Sayuko; Leinonen, Jaakko; Lowry, Estelle; Lyytikainen, Leo-Pekka; Mahajan, Anubha; Pitkänen, Niina; Schnurr, Theresia M; Have, Christian Theil; Strachan, David P; Thiering, Elisabeth; Vogelezang, Suzanne; Wade, Kaitlin H; Wang, Carol A; Wong, Andrew; Holm, Louise Aas; Chesi, Alessandra; Choong, Catherine; Cruz, Miguel; Elliott, Paul; Franks, Steve; Frithioff-Bøjsøe, Christine; Gauderman, W James; Glessner, Joseph T; Gilsanz, Vicente; Griesman, Kendra; Hanson, Robert L; Kaakinen, Marika; Kalkwarf, Heidi; Kelly, Andrea; Kindler, Joseph; Kähönen, Mika; Lanca, Carla; Lappe, Joan; Lee, Nanette R; McCormack, Shana; Mentch, Frank D; Mitchell, Jonathan A; Mononen, Nina; Niinikoski, Harri; Oken, Emily; Pahkala, Katja; Sim, Xueling; Teo, Yik-Ying; Baier, Leslie J; van Beijsterveldt, Toos; Adair, Linda S; Boomsma, Dorret I; de Geus, Eco; Guxens, Mònica; Eriksson, Johan G; Felix, Janine F; Gilliland, Frank D; Biobank, Penn Medicine; Hansen, Torben; Hardy, Rebecca; Hivert, Marie-France; Holm, Jens-Christian; Jaddoe, Vincent W V; Järvelin, Marjo-Riitta; Lehtimäki, Terho; Mackey, David A; Meyre, David; Mohlke, Karen L; Mykkänen, Juha; Oberfield, Sharon; Pennell, Craig E; Perry, John R B; Raitakari, Olli; Rivadeneira, Fernando; Saw, Seang-Mei; Sebert, Sylvain; Shepherd, John A; Standl, Marie; Sørensen, Thorkild I A; Timpson, Nicholas J; Torrent, Maties; Willemsen, Gonneke; Hypponen, Elina; Power, Chris; McCarthy, Mark I; Freathy, Rachel M; Widén, Elisabeth; Hakonarson, Hakon; Prokopenko, Inga; Voight, Benjamin F; Zemel, Babette S; Grant, Struan F A; Cousminer, Diana L

Author Correction: Trans-ancestral genome-wide association study of longitudinal pubertal height growth and shared heritability with adult health outcomes

作者更正:跨祖先全基因组关联研究探讨青春期身高纵向增长及其与成年健康结果的共同遗传性

Bradfeld, Jonathan P; Kember, Rachel L; Ulrich, Anna; Balkhiyarova, Zhanna; Alyass, Akram; Aris, Izzuddin M; Bell, Joshua A; Broadaway, K Alaine; Chen, Zhanghua; Chai, Jin-Fang; Davies, Neil M; Fernandez-Orth, Dietmar; Bustamante, Mariona; Fore, Ruby; Ganguli, Amitavo; Heiskala, Anni; Hottenga, Jouke-Jan; Íñiguez, Carmen; Kobes, Sayuko; Leinonen, Jaakko; Lowry, Estelle; Lyytikainen, Leo-Pekka; Mahajan, Anubha; Pitkänen, Niina; Schnurr, Theresia M; Have, Christian Theil; Strachan, David P; Thiering, Elisabeth; Vogelezang, Suzanne; Wade, Kaitlin H; Wang, Carol A; Wong, Andrew; Holm, Louise Aas; Chesi, Alessandra; Choong, Catherine; Cruz, Miguel; Elliott, Paul; Franks, Steve; Frithiof-Bøjsøe, Christine; Gauderman, W James; Glessner, Joseph T; Gilsanz, Vicente; Griesman, Kendra; Hanson, Robert L; Kaakinen, Marika; Kalkwarf, Heidi; Kelly, Andrea; Kindler, Joseph; Kähönen, Mika; Lanca, Carla; Lappe, Joan; Lee, Nanette R; McCormack, Shana; Mentch, Frank D; Mitchell, Jonathan A; Mononen, Nina; Niinikoski, Harri; Oken, Emily; Pahkala, Katja; Sim, Xueling; Teo, Yik-Ying; Baier, Leslie J; van Beijsterveldt, Toos; Adair, Linda S; Boomsma, Dorret I; de Geus, Eco; Guxens, Mònica; Eriksson, Johan G; Felix, Janine F; Gilliland, Frank D; Hansen, Torben; Hardy, Rebecca; Hivert, Marie-France; Holm, Jens-Christian; Jaddoe, Vincent W V; Järvelin, Marjo-Riitta; Lehtimäki, Terho; Mackey, David A; Meyre, David; Mohlke, Karen L; Mykkänen, Juha; Oberfeld, Sharon; Pennell, Craig E; Perry, John R B; Raitakari, Olli; Rivadeneira, Fernando; Saw, Seang-Mei; Sebert, Sylvain; Shepherd, John A; Standl, Marie; Sørensen, Thorkild I A; Timpson, Nicholas J; Torrent, Maties; Willemsen, Gonneke; Hypponen, Elina; Power, Chris; McCarthy, Mark I; Freathy, Rachel M; Widén, Elisabeth; Hakonarson, Hakon; Prokopenko, Inga; Voight, Benjamin F; Zemel, Babette S; Grant, Struan F A; Cousminer, Diana L