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

Erika Leenders

Radboud University Nijmegen
H指数:13
被引数:440

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

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms

成人Noonan综合征和Noonan综合征伴多发色素斑：神经病理性疼痛与神经增粗对健康相关生活质量及神经症状的影响

American Journal of Medical Genetics Part A
IF1.7
2026-01-010
OAAI
Draaisma, Jos M. T.; Reintjes, Wesley; Leenders, Erika; Draaisma, Fieke; Burgers, Melanie; Kleimeier, Lotte; Tartaglia, Marco; Klaassens, Merel; Becks, Ruud; Renes, Steven; Wingbermuhle, Ellen; Voermans, Nicol C.; van Alfen, Nens
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
GENETICS IN MEDICINE
IF6.2
2023-01-014
OAAI
Ferreira, Elise A.; Veenvliet, Annemarijne R. J.; Engelke, Udo F. H.; Kluijtmans, Leo A. J.; Huigen, Marleen C. D. G.; Hoegen, Brechtje; de Boer, Lonneke; de Vries, Maaike C.; van Bon, Bregje W.; Leenders, Erika; Cornelissen, Elisabeth A. M.; Haaxma, Charlotte A.; Schieving, Jolanda H.; Rubio-Gozalbo, M. Estela; Korver-Keularts, Irene M. L. W.; Marten, Lara M.; Diegmann, Susann; Mourmans, Jeroen; Rennings, Alexander J. M.; Karnebeek, Clara D. M. van; Rodenburg, Richard J.; Coene, Karlien L. M.
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study
ELIFE
IF0
2022-10-177
OA
Hebert, Anne; Simons, Annet; Schuurs-Hoeijmakers, Janneke H. M.; Koenen, Hans J. P. M.; Zonneveld-Huijssoon, Evelien; Henriet, Stefanie S., V; Schatorje, Ellen J. H.; Hoppenreijs, Esther P. A. H.; Leenders, Erika K. S. M.; Janssen, Etienne J. M.; Santen, Gijs W. E.; de Munnik, Sonja A.; van Reijmersdal, Simon, V; van Rijssen, Esther; Kersten, Simone; Netea, Mihai G.; Smeets, Ruben L.; van de Veerdonk, Frank L.; Hoischen, Alexander; van der Made, Caspar, I
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-08-3020
OAAI
Engwerda, Aafke; Leenders, Erika K. S. M.; Frentz, Barbara; Terhal, Paulien A.; Lohner, Katharina; de Vries, Bert B. A.; Dijkhuizen, Trijnie; Vos, Yvonne J.; Rinne, Tuula; van den Berg, Maarten P.; Roofthooft, Marc T. R.; Deelen, Patrick; Van Ravenswaaij-Arts, Conny M. A.; Kerstjens-Frederikse, Wilhelmina S.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2021-06-0145
OAAI
Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J. M.; Goodman, Sarah J.; Siu, Michelle T.; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B. A.; Deden, A. Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Vermeulen, Jeroen R.; van Harssel, Jeske V. T.; Bosch, Danielle G. M.; van Gassen, Koen L., I; van Binsbergen, Ellen; de Geus, Christa M.; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M.; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B.; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W.; Berry, Ian R.; Campbell, Jennifer; Lindstrom, Kristin; Pruniski, Brianna; Neumeyer, Ann M.; Radley, Jessica A.; Phornphutkul, Chanika; Schmidt, Berkley; Wilson, William G.; Ounap, Katrin; Reinson, Karit; Pajusalu, Sander; van Haeringen, Arie; Ruivenkamp, Claudia; Cuperus, Roos; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Pacio-Miguez, Marta; Ritter, Alyssa; Bhoj, Elizabeth; Tonne, Elin; Tveten, Kristian; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Rowe, Leah; Bunn, Jason; Saenz, Margarita; Platzer, Konrad; Mertens, Mareike; Caluseriu, Oana; Nowaczyk, Malgorzata J. M.; Cohn, Ronald D.; Kannu, Peter; Alkhunaizi, Ebba; Chitayat, David; Scherer, Stephen W.; Brunner, Han G.; Vissers, Lisenka E. L. M.; Kleefstra, Tjitske; Koolen, David A.; Weksberg, Rosanna
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
GENETICS IN MEDICINE
IF6.2
2021-04-0122
OAAI
Polla, D. L.; Bhoj, E. J.; Verheij, J. B. G. M.; Wassink-Ruiter, J. S. Klein; Reis, A.; Deshpande, C.; Gregor, A.; Hill-Karfe, K.; Vulto-van Silfhout, A. T.; Pfundt, R.; Bongers, E. M. H. F.; Hakonarson, H.; Berland, S.; Gradek, G.; Banka, S.; Chandler, K.; Gompertz, L.; Huffels, S. C.; Stumpel, C. T. R. M.; Wennekes, R.; Stegmann, A. P. A.; Reardon, W.; Leenders, E. K. S. M.; de Vries, B. B. A.; Li, D.; Zackai, E.; Ragge, N.; Lynch, S. A.; Cuddapah, S.; van Bokhoven, H.; Zweier, C.; de Brouwer, A. P. M.
Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2021-01-1223
OAAI
Balasubramanian, Meena; Dingemans, Alexander J. M.; Albaba, Shadi; Richardson, Ruth; Yates, Thabo M.; Cox, Helen; Douzgou, Sofia; Armstrong, Ruth; Sansbury, Francis H.; Burke, Katherine B.; Fry, Andrew E.; Ragge, Nicola; Sharif, Saba; Foster, Alison; De Sandre-Giovannoli, Annachiara; Elouej, Sahar; Vasudevan, Pradeep; Mansour, Sahar; Wilson, Kate; Stewart, Helen; Heide, Solveig; Nava, Caroline; Keren, Boris; Demirdas, Serwet; Brooks, Alice S.; Vincent, Marie; Isidor, Bertrand; Kury, Sebastien; Schouten, Meyke; Leenders, Erika; Chung, Wendy K.; Haeringen, Arie van; Scheffner, Thomas; Debray, Francois-Guillaume; White, Susan M.; Palafoll, Maria Irene Valenzuela; Pfundt, Rolph; Newbury-Ecob, Ruth; Kleefstra, Tjitske
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2020-08-1223
OAAI
Lissewski, Christina; Chune, Valerie; Pantaleoni, Francesca; De Luca, Alessandro; Capri, Yline; Brinkmann, Julia; Lepri, Francesca; Daniele, Paola; Leenders, Erika; Mazzanti, Laura; Scarano, Emanuela; Radio, Francesca Clementina; Kutsche, Kerstin; Kuechler, Alma; Gerard, Marion; Ranguin, Kara; Legendre, Marine; Vial, Yoann; van der Burgt, Ineke; Rinne, Tuula; Andreucci, Elena; Mastromoro, Gioia; Digilio, Maria Cristina; Cave, Helene; Tartaglia, Marco; Zenker, Martin

研究方向

暂未获取到该数据
J
Jos Draaisma
H 指数:38论文数:212被引数:4,328
L
Lotte E. R. Kleimeier
H 指数:5论文数:10被引数:107
E
Ellen Wingbermühle
H 指数:13论文数:41被引数:530
T
Tuula Rinne
H 指数:29论文数:74被引数:3,671
T
Tjitske Kleefstra
H 指数:73论文数:364被引数:1.9万
B
Bert B.A. de Vries
H 指数:73论文数:287被引数:2.4万
R
Rolph Pfundt
H 指数:79论文数:378被引数:2.0万
D
Dagmar K. Tiemens
H 指数:5论文数:11被引数:50
E
Elizabeth Bhoj
H 指数:33论文数:185被引数:3,724
A
Alexander J.M. Dingemans
H 指数:18论文数:65被引数:1,505