logo
科言猫学术研究的AI总结
language
手机端手机端
  • Phone Feature微信小程序
简体中文简体中文
notice消息通知
博客博客
arrow
E

Erik A. Sistermans

Department of Human Genetics
H指数:53
被引数:1.1万

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer’s disease

疾病突变的结构域定位揭示了阿尔茨海默氏病的致病性SORL1变体

Molecular Neurodegeneration
IF17.5
2025-12-010
OAAI
Olav M. Andersen; Matthijs W. J. de Waal; Giulia Monti; Niccolo Tesi; Anne Mette G. Jensen; Christa de Geus; Rosalina van Spaendonk; Maartje Vogel; Shahzad Ahmad; Najaf Amin; Philippe Amouyel; Gary W. Beecham; Céline Bellenguez; Claudine Berr; Joshua C. Bis; Anne Boland; Paola Bossù; Femke Bouwman; Jose Bras; Camille Charbonnier; Jordi Clarimon; Carlos Cruchaga; Antonio Daniele; Jean-François Dartigues; Stéphanie Debette; Jean-François Deleuze; Nicola Denning; Anita L. DeStefano; Oriol Dols-Icardo; Cornelia M. van Duijn; Lindsay A. Farrer; Maria Victoria Fernández; Wiesje M. van der Flier; Nick C. Fox; Daniela Galimberti; Emmanuelle Genin; Johan J. P. Gille; Benjamin Grenier-Boley; Detelina Grozeva; Yann Le Guen; Rita Guerreiro; Jonathan L. Haines; Clive Holmes; Holger Hummerich; M. Arfan Ikram; M. Kamran Ikram; Amit Kawalia; Robert Kraaij; Jean-Charles Lambert; Marc Lathrop; Afina W. Lemstra; Alberto Lleó; Richard M. Myers; Marcel M. A. M. Mannens; Rachel Marshall; Eden R. Martin; Carlo Masullo; Richard Mayeux; Simon Mead; Patrizia Mecocci; Alun Meggy; Merel O. Mol; Benedetta Nacmias; Adam C. Naj; Valerio Napolioni; J. Nicholas Cochran; Gaël Nicolas; Florence Pasquier; Pau Pastor; Margaret A. Pericak-Vance; Yolande A. L. Pijnenburg; Fabrizio Piras; Olivier Quenez; Alfredo Ramirez; Rachel Raybould; Richard Redon; Marcel J. T. Reinders; Anne-Claire Richard; Steffi G. Riedel-Heller; Fernando Rivadeneira; Jeroen G. J. van Rooij; Stéphane Rousseau; Natalie S. Ryan; Pascual Sanchez-Juan; Gerard D. Schellenberg; Philip Scheltens; Jonathan M. Schott; Sudha Seshadri; Daoud Sie; Rebecca Sims; Erik A. Sistermans; Sandro Sorbi; John C. van Swieten; Betty Tijms; André G. Uitterlinden; Pieter Jelle Visser; Michael Wagner; David Wallon; Li-San Wang; Julie Williams; Jennifer S. Yokoyama; Aline Zarea; Sven J. van der Lee; Johan G. Olsen; Marc Hulsman; Henne Holstege
Genetic modifiers and ascertainment drive variable expressivity of complex disorders

遗传修饰因子和病例发现方式驱动复杂疾病的表型可变性

Cell
IF42.5
2025-10-070
OAAI
Matthew Jensen; Corrine Smolen; Anastasia Tyryshkina; Lucilla Pizzo; Jiawan Sun; Serena Noss; Deepro Banerjee; Matthew Oetjens; Hermela Shimelis; Cora M. Taylor; Vijay Kumar Pounraja; Hyebin Song; Laura Rohan; Emily Huber; Laila El Khattabi; Ingrid van de Laar; Rafik Tadros; Connie R. Bezzina; Marjon van Slegtenhorst; Janneke Kammeraad; Paolo Prontera; Jean-Hubert Caberg; Harry Fraser; Siddharth Banka; Anke Van Dijck; Charles Schwartz; Els Voorhoeve; Patrick Callier; Anne-Laure Mosca-Boidron; Nathalie Marle; Mathilde Lefebvre; Kate Pope; Penny Snell; Amber Boys; Paul J. Lockhart; Myla Ashfaq; Elizabeth McCready; Margaret Nowacyzk; Lucia Castiglia; Ornella Galesi; Emanuela Avola; Teresa Mattina; Marco Fichera; Maria Grazia Bruccheri; Giuseppa Maria Luana Mandarà; Francesca Mari; Flavia Privitera; Ilaria Longo; Aurora Curró; Alessandra Renieri; Boris Keren; Perrine Charles; Silvestre Cuinat; Mathilde Nizon; Olivier Pichon; Claire Bénéteau; Radka Stoeva; Dominique Martin-Coignard; Sophia Blesson; Cedric Le Caignec; Sandra Mercier; Marie Vincent; Christa L. Martin; Katrin Mannik; Alexandre Reymond; Laurence Faivre; Erik Sistermans; R. Frank Kooy; David J. Amor; Corrado Romano; Joris Andrieux; Santhosh Girirajan
Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing

使用无创胎儿非整倍性检测产生的数据早期检测孕妇的活动性人类巨细胞病毒 (hCMV) 感染

EBIOMEDICINE
IF10.8
2024-02-014
OAAI
Faas, Brigitte H. W.; Astuti, Galuh; Melchers, Willem J. G.; Reuss, Annette; Gilissen, Christian; Macville, Merryn V. E.; Ghesquiere, Stijn A. I.; Houben, Leonieke M. H.; Srebniak, Malgorzata Ilona; Geeven, Geert; Rahamat-Langendoen, Janette C.; Sistermans, Erik A.; Linthorst, Jasper
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

分类交配和亲本遗传相关性有助于可变表达变体的致病性

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2023-12-014
OAAI
Smolen, Corrine; Jensen, Matthew; Dyer, Lisa; Pizzo, Lucilla; Tyryshkina, Anastasia; Banerjee, Deepro; Rohan, Laura; Huber, Emily; Khattabi, Laila El; Prontera, Paolo; Caberg, Jean-Hubert; Dijck, Anke Van; Schwartz, Charles; Faivre, Laurence; Callier, Patrick; Mosca-Boidron, Anne-Laure; Lefebvre, Mathilde; Pope, Kate; Snell, Penny; Lockhart, Paul J.; Castiglia, Lucia; Galesi, Ornella; Avola, Emanuela; Mattina, Teresa; Fichera, Marco; Mandara, Giuseppa Maria Luana; Bruccheri, Maria Grazia; Pichon, Olivier; Caignec, Cedric Le; Stoeva, Radka; Cuinat, Silvestre; Mercier, Sandra; Beneteau, Claire; Blesson, Sophie; Nordsletten, Ashley; Martin-Coignard, Dominique; Sistermans, Erik; Kooy, R. Frank; Amor, David J.; Romano, Corrado; Isidor, Bertrand; Juusola, Jane; Girirajan, Santhosh
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease

外显子组测序鉴定ATP8B4和ABCA1中罕见的破坏性变异为阿尔茨海默病的危险因素

NATURE GENETICS
IF31.8
2022-11-2180
OAAI
Holstege, Henne; Hulsman, Marc; Charbonnier, Camille; Grenier-Boley, Benjamin; Quenez, Olivier; Grozeva, Detelina; van Rooij, Jeroen G. J.; Sims, Rebecca; Ahmad, Shahzad; Amin, Najaf; Norsworthy, Penny J.; Dols-Icardo, Oriol; Hummerich, Holger; Kawalia, Amit; Amouyel, Philippe; Beecham, Gary W.; Berr, Claudine; Bis, Joshua C.; Boland, Anne; Bossu, Paola; Bouwman, Femke; Bras, Jose; Campion, Dominique; Cochran, J. Nicholas; Daniele, Antonio; Dartigues, Jean-Francois; Debette, Stephanie; Deleuze, Jean-Francois; Denning, Nicola; DeStefano, Anita L.; Farrer, Lindsay A.; Fernandez, Maria Victoria; Fox, Nick C.; Galimberti, Daniela; Genin, Emmanuelle; Gille, Johan J. P.; Le Guen, Yann; Guerreiro, Rita; Haines, Jonathan L.; Holmes, Clive; Ikram, M. Arfan; Ikram, M. Kamran; Jansen, Iris E.; Kraaij, Robert; Lathrop, Marc; Lemstra, Afina W.; Lleo, Alberto; Luckcuck, Lauren; Mannens, Marcel M. A. M.; Marshall, Rachel; Martin, Eden R.; Masullo, Carlo; Mayeux, Richard; Mecocci, Patrizia; Meggy, Alun; Mol, Merel O.; Morgan, Kevin; Myers, Richard M.; Nacmias, Benedetta; Naj, Adam C.; Napolioni, Valerio; Pasquier, Florence; Pastor, Pau; Pericak-Vance, Margaret A.; Raybould, Rachel; Redon, Richard; Reinders, Marcel J. T.; Richard, Anne-Claire; Riedel-Heller, Steffi G.; Rivadeneira, Fernando; Rousseau, Stephane; Ryan, Natalie S.; Saad, Salha; Sanchez-Juan, Pascual; Schellenberg, Gerard D.; Scheltens, Philip; Schott, Jonathan M.; Seripa, Davide; Seshadri, Sudha; Sie, Daoud; Sistermans, Erik A.; Sorbi, Sandro; van Spaendonk, Resie; Spalletta, Gianfranco; Tesi, Niccolo'; Tijms, Betty; Uitterlinden, Andre G.; van der Lee, Sven J.; Visser, Pieter Jelle; Wagner, Michael; Wallon, David; Wang, Li-San; Zarea, Aline; Clarimon, Jordi; van Swieten, John C.; Greicius, Michael D.; Yokoyama, Jennifer S.; Cruchaga, Carlos; Hardy, John; Ramirez, Alfredo; Mead, Simon; van der Flier, Wiesje M.; van Duijn, Cornelia M.; Williams, Julie; Nicolas, Gael; Bellenguez, Celine; Lambert, Jean-Charles

研究方向

暂未获取到该数据
B
Bert B.A. de Vries
H 指数:73论文数:287被引数:2.4万
M
Marjan M. Weiss
H 指数:45论文数:156被引数:7,198
L
Lidewij Henneman
H 指数:47论文数:281被引数:7,570
D
David A. Koolen
H 指数:51论文数:161被引数:1.0万
M
Mireille N. Bekker
H 指数:35论文数:231被引数:4,210
W
Willy M. Nillesen
H 指数:35论文数:110被引数:5,710
M
Merryn Macville
H 指数:28论文数:77被引数:3,135
G
Gerard Pals
H 指数:61论文数:294被引数:1.5万
D
Diane Van Opstal
H 指数:35论文数:140被引数:4,632
N
Nicole de Leeuw
H 指数:49论文数:192被引数:1.0万