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

The complete genome of the KOLF2.1J reference iPSC line

KOLF2.1J参考iPSC系的完整基因组

Jerez, Pilar Alvarez; Rhie, Arang; Kim, Juhyun; Hebbar, Prajna; Nag, Sagorika; Antipov, Dmitry; Koren, Sergey; Lara, Erika; Beilina, Alexandra; Hansen, Nancy F; Arber, Charles; Zulueta, Jimena; Crea, Peter Wild; Patel, Dhairya; Hickey, Glenn; Waltz, Brian; Malik, Laksh; Skarnes, William C; Reed, Xylena; Genner, Rylee; Daida, Kensuke; Pantazis, Caroline B; Grenn, Francis; Nalls, Mike A; Billingsley, Kimberley; Fossati, Valentina; Wray, Selina; Ward, Michael; Ryten, Mina; Singleton, Andrew B; Cookson, Mark R; Jain, Miten; Paten, Benedict; Phillippy, Adam M; Blauwendraat, Cornelis

Assessing DNA methylation detection for primary human tissue using Nanopore sequencing

利用纳米孔测序评估原代人组织DNA甲基化检测

Genner, Rylee; Akeson, Stuart; Meredith, Melissa; Jerez, Pilar Alvarez; Malik, Laksh; Baker, Breeana; Miano-Burkhardt, Abigail; Paten, Benedict; Billingsley, Kimberley J; Blauwendraat, Cornelis; Jain, Miten

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease

长读长测序发现帕金森病中FGF14重复序列扩增

Akçimen, Fulya; Daida, Kensuke; Lange, Lara M; Moller, Abraham; Miano-Burkhardt, Abigail; Malik, Laksh; Paquette, Kimberly; Jerez, Pilar Alvarez; Mingle, Jackson; Baker, Breeana; Meredith, Melissa; Kouam, Cedric; Jarreau, Paige; Markham, Androo; Anderson, Jessica; Jain, Miten; Chaisson, Mark; Cookson, Mark; Casey, Bradford; Iwaki, Hirotaka; Bandres-Ciga, Sara; Saffie-Awad, Paula; Nalls, Mike; Fang, Zih-Hua; Singleton, Andrew B; Blauwendraat, Cornelis; Billingsley, Kimberley J

Identification of GGC Repeat Expansions in ZFHX3 Among Chilean Movement Disorder Patients

智利运动障碍患者ZFHX3基因中GGC重复序列扩增的鉴定

Saffie-Awad, Paula; Moller, Abraham; Daida, Kensuke; Jerez, Pilar Alvarez; Chen, Zhongbo; Anderson, Zachary B; Isayan, Mariam; Paquette, Kimberly; Gibson, Sophia B; Fulcher, Madison; Miano-Burkhardt, Abigail; Malik, Laksh; Baker, Breeana; Jarreau, Paige; Houlden, Henry; Ryten, Mina; Gu, Bida; Chaisson, Mark Jp; Miller, Danny E; Chaná-Cuevas, Pedro; Blauwendraat, Cornelis; Singleton, Andrew B; Billingsley, Kimberley J

Haplotype-Resolved DNA Methylation at the APOE Locus identifies Allele-Specific Epigenetic Signatures Relevant to Alzheimer's Disease Risk

基于单倍型解析的APOE基因座DNA甲基化分析揭示了与阿尔茨海默病风险相关的等位基因特异性表观遗传特征。

Genner, Rylee M; Meredith, Melissa; Moller, Abraham; Weller, Cory; Daida, Kensuke; Ayuketah, Alexis; Jerez, Pilar Alvarez; Akeson, Stuart; Malik, Laksh; Baker, Breeana; Kouam, Cedric; Paquette, Kimberly; Marenco, Stefano; Auluck, Pavan; Mandal, Ajeet; Paten, Benedict; Reed, Xylena; Jain, Miten; Cookson, Mark R; Singleton, Andrew B; Nalls, Mike; Blauwendraat, Cornelis; Billingsley, Kimberley J

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations

对非洲裔和非洲混血人群进行帕金森病的大规模基因特征分析

Akçimen, Fulya; Paquette, Kimberly; Crea, Peter Wild; Saffie-Awad, Paula; Achoru, Charles; Taiwo, Funmilola; Ozomma, Simon; Onwuegbuzie, Gerald; Khani, Marzieh; Grant, Spencer; Owolabi, Lukman; Okereke, Chiamaka; Oshinaike, Olajumoke; Iwuozo, Emmanuel; Lee, Paul Suhwan; Oyakhire, Shyngle; Osemwegie, Nosakhare; Daida, Kensuke; Abubakar, Sani; Olusanya, Adedunni; Isayan, Mariam; Traurig, Rami; Ogunmodede, Adebimpe; Samuel, Sarah; Makarious, Mary B; Sa'ad, Fadimatu; Olanigan, Rashidat; Levine, Kristin; Ogbimi, Ewere Marie; Vitale, Dan; Odiase, Francis; Koretsky, Mathew J; Ojini, Francis; Odeniyi, Olanike; Fang, Zih-Hua; Obianozie, Nkechi; Hall, Deborah A; Nwazor, Ernest; Xie, Tao; Nwaokorie, Francisca; Padmanaban, Mahesh; Nwani, Paul; Shamim, Ejaz A; Nnama, Alero; Standaert, David; Komolafe, Morenikeji; Dean, Marissa; Osaigbovo, Godwin; Disbrow, Elizabeth; Ishola, Ismaila; Rawls, Ashley; Imarhiagbe, Frank; Chandra, Shivika; Erameh, Cyril; Hinson, Vanessa; Louie, Naomi; Idowu, Ahmed; Solle, J; Norris, Scott A; Ibrahim, Abdullahi; Kilbane, Camilla; Sukumar, Gauthaman; Shulman, Lisa M; Ezuduemoih, Daniel; Staisch, Julia; Breaux, Sarah; Dalgard, Clifton; Foster, Erin R; Bello, Abiodun; Ameri, Andrew; Real, Raquel; Ikwenu, Erica; Morris, Huw R; Anyanwu, Roosevelt; Stimming, Erin Furr; Billingsley, Kimberley; Alaofin, Wemimo; Jerez, Pilar Alvarez; Agabi, Osigwe; Hernandez, Dena G; Akinyemi, Rufus; Arepalli, Sampath; Malik, Laksh; Owolabi, Raymond; Nyandaiti, Yakub; Leonard, Hampton L; Wahab, Kolawole; Step, Kathryn; Abiodun, Oladunni; Hernandez, Carlos F; Abdulai, Fatima; Iwaki, Hirotaka; Bardien, Soraya; Klein, Christine; Hardy, John; Houlden, Henry; Galvelis, Kamalini Ghosh; Nalls, Mike A; Dahodwala, Nabila; Aamodt, Whitley; Hill, Emily; Espay, Alberto; Factor, Stewart; Branson, Chantale; Blauwendraat, Cornelis; Singleton, Andrew B; Ojo, Oluwadamilola; Chahine, Lana M; Okubadejo, Njideka; Bandres-Ciga, Sara

APOE stratified genome-wide association studies provide novel insights into the genetic etiology of Alzheimers's disease

基于APOE分层的全基因组关联研究为阿尔茨海默病的遗传病因学提供了新的见解

Thomassen, Jesper Qvist; Hampton, Leonard; Ulms, Brittany; Grenier-Boley, Benjamin; Heikkinen, Sami; Garcia, Pablo; Castillo-Morales, Atahualapa; Kikuchi, Masataka; Gim, Jungsoo; Cao, Han; Küçükali, Fahri; Amin, Najaf; Yoon, Dabin; de Rojas, Itziar; Jerez, Pilar Alvarez; Alvarez, Victoria; Arosio, Beatrice; Bellenguez, Celine; Bergh, Sverre; Billingsley, Kimberly; Blauwendraat, Cornelis; Boada, Merce; Borroni, Barbara; Bossù, Paola; Bullido, María J; Daniele, Antonio; Carracedo, Ángel; de Mendonça, Alexandre; Cookson, Mark; Deckert, Jürgen; Dichgans, Martin; Djurovic, Srdjan; Dols-Icardo, Oriol; Dufouil, Carole; Düzel, Emrah; Escott-Price, Valentina; Fladby, Tormod; Fratiglioni, Laura; Fu, Amy K Y; Galimberti, Daniela; García-Alberca, Jose Maria; Giedraitis, Vilmantas; Garcia-Ribas, Guillermo; Graff, Caroline; Grimmer, Timo; Grünblatt, Edna; Hanon, OIivier; Hausner, Lucrezia; Heilmann-Hemibach, Stefanie; Hort, Jakub; Jessen, Frank; Jensen, Kendall; Jonson, Caroline; Kim, Yoontae; Kuznetsov, Nicole; Leinonen, Ville; Lipponen, Anssi; Luo, Jiao; Makarious, Mary; Martiskainen, Henna; Masullo, Carlo; Mecocci, Patrizia; Mehrabian, Shima; Mir, Pablo; Miyashita, Akinori; Moebus, Susanne; Mok, Kin Y; Porcel, Laura Molina; Moreno, Fermin; Nacmias, Benedetta; Parnetti, Lucilla; Pastor, Pau; Pérez-Tur, Jordi; Peters, Oliver; Pijnenburg, Yolande A L; Piñol-Ripoll, Gerard; Popp, Julius; Rainero, Innocenzo; Real, Luis M; Riedel-Heller, Steffi; Rodriguez-Rodriguez, Eloy; Rongve, Arvid; Rossi, Giacomina; Royo, Jose Luis; Rujescu, Dan; Saltvedt, Ingvild; Sáez, María Eugenia; Sánchez-Valle, Raquel; Sanchez-Garcia, Florentino; Sandau, Nicolai; Scarmeas, Nikolaos; Scheffler, Katja; Scherbaum, Norbert; Schneider, Anja; Selbæk, Geir; Seripa, Davide; Solfrizzi, Vincenzo; Spallazzi, Marco; Squassina, Alessio; Stordal, Eystein; Tesi, Niccoló; Tremolizzo, Lucio; Tripathi, Kumar P; van der Flier, Wiesje M; Williams, Julie; Wiltfang, Jens; Aarsland, Dag; Singleton, Andrew B; Amouyel, Philippe; Debette, Stéphanie; Nicolas, Gael; van der Lee, Sven; Holstege, Henne; Fernandez, Maria Victoria; Kehoe, Patrick Gavin; Sleegers, Kristel; Ingelsson, Martin; Ghidoni, Roberta; Andreassen, Ole A; Holmans, Peter A; Sánchez-Juan, Pascual; Sims, Rebecca; Ip, Nancy Y; Lee, Kun Ho; Ikeuchi, Takeshi; Ramirez, Alfredo; Ruiz, Agustin; Hiltunen, Mikko; Lambert, Jean-Charles; van Duijn, Cornelia; Nalls, Mike; Frikke-Schmidt, Ruth

Bidirectional regulation of glycoprotein nonmetastatic melanoma protein B by β-glucocerebrosidase deficiency in GBA1 isogenic dopaminergic neurons from a patient with Gaucher disease and parkinsonism.

戈谢病和帕金森病患者的 GBA1 同源多巴胺能神经元中 β-葡糖脑苷脂酶缺乏对糖蛋白非转移性黑色素瘤蛋白 B 的双向调节

Chen Chase, Ma Charis, Sam Richard, Lichtenberg Jens, Chen Tiffany, Hao Ying, Li Ziyi, Kowal Isabelle, Andersh Kate, Qi Yue Andy, Perez Gani, Hertz Ellen, Li Yan, Williams Darian, Henderson Mark J, Park Morgan, Jiang Xuntian, Jerez Pilar Alvarez, Blauwendraat Cornelis, Sidransky Ellen, Chen Yu

Assessing methylation detection for primary human tissue using Nanopore sequencing

利用纳米孔测序评估原代人组织甲基化检测

Genner, Rylee; Akeson, Stuart; Meredith, Melissa; Jerez, Pilar Alvarez; Malik, Laksh; Baker, Breeana; Miano-Burkhardt, Abigail; Paten, Benedict; Billingsley, Kimberley J; Blauwendraat, Cornelis; Jain, Miten

Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study

非洲及非洲混血人群中帕金森病相关遗传风险位点的鉴定及因果关系研究:一项全基因组关联研究

Rizig, Mie; Bandres-Ciga, Sara; Makarious, Mary B; Ojo, Oluwadamilola Omolara; Crea, Peter Wild; Abiodun, Oladunni Victoria; Levine, Kristin S; Abubakar, Sani Atta; Achoru, Charles Obiora; Vitale, Dan; Adeniji, Olaleye Akinmola; Agabi, Osigwe Paul; Koretsky, Mathew J; Agulanna, Uchechi; Hall, Deborah A; Akinyemi, Rufus Olusola; Xie, Tao; Ali, Mohammed Wulgo; Shamim, Ejaz A; Ani-Osheku, Ifeyinwa; Padmanaban, Mahesh; Arigbodi, Ohwotemu Michael; Standaert, David G; Bello, Abiodun Hamzat; Dean, Marissa N; Erameh, Cyril Oshomah; Elsayed, Inas; Farombi, Temitope Hannah; Okunoye, Olaitan; Fawale, Michael Bimbola; Billingsley, Kimberley J; Imarhiagbe, Frank Aiwansoba; Jerez, Pilar Alvarez; Iwuozo, Emmanuel Uzodinma; Baker, Breeana; Komolafe, Morenikeji Adeyoyin; Malik, Laksh; Nwani, Paul Osemeke; Daida, Kensuke; Nwazor, Ernest Okwundu; Miano-Burkhardt, Abigail; Nyandaiti, Yakub Wilberforce; Fang, Zih-Hua; Obiabo, Yahaya Olugbo; Kluss, Jillian H; Odeniyi, Olanike Adedoyin; Hernandez, Dena G; Odiase, Francis Ehidiamen; Tayebi, Nahid; Ojini, Francis Ibe; Sidranksy, Ellen; Onwuegbuzie, Gerald Awele; D'Souza, Andrea M; Osaigbovo, Godwin Osawaru; Berhe, Bahafta; Osemwegie, Nosakhare; Reed, Xylena; Oshinaike, Olajumoke Olufemi; Leonard, Hampton L; Otubogun, Folajimi Morenikeji; Alvarado, Chelsea X; Oyakhire, Shyngle Imiewan; Ozomma, Simon Izuchukwu; Samuel, Sarah Chabiri; Taiwo, Funmilola Tolulope; Wahab, Kolawole Wasiu; Zubair, Yusuf Agboola; Iwaki, Hirotaka; Kim, Jonggeol Jeffrey; Morris, Huw R; Hardy, John; Nalls, Mike A; Heilbron, Karl; Norcliffe-Kaufmann, Lucy; Blauwendraat, Cornelis; Houlden, Henry; Singleton, Andrew; Okubadejo, Njideka Ulunma