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L

Lotte Kleinendorst

university of amsterdam
H指数:18
被引数:1,122

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荣誉奖项

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European Consortium for Lipodystrophies consensus definition and classification framework for monogenic lipodystrophy

欧洲脂萎缩综合征联盟单基因脂萎缩的共识定义和分类框架

Journal of Internal Medicine
IF9.2
2026-09-020
OAAI
Robert K. Semple; Martin Wabitsch; Baris Akinci; Saif Alyaarubi; Marjoleine F. Broekema; Rebecca J. Brown; Giovanni Ceccarini; Carolina Cecchetti; Solaf M. Elsayed; Antía Fernández-Pombo; Alessandra Gambineri; Ingrid M. Jazet; Lotte Kleinendorst; Konstanze Miehle; Elif A. Oral; Flavia Prodam; Ferruccio Santini; David B. Savage; Nadia Shaukat Ali; Ekaterina Sorkina; Magdalena Szopa; Marie-Christine Vantyghem; Camille Vatier; Corinne Vigouroux; Julia von Schnurbein; David Araújo-Vilar
Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome

发现Weiss-Kruszka综合征的DNA甲基化表观签名

Human Genetics
IF3.6
2026-07-200
OA
Haley McConkey; Liselot van der Laan; Sourav Ghosh; Lotte Kleinendorst; Michael A. Levy; Jessica Rzasa; Johanna M. van Hagen; Quinten Waisfisz; Heidi L. Schulz; Corina Heller; Kerstin Huhn; Carolin D. Obermaier; Konrad Platzer; Rami Abou Jamra; Nikos Marinakis; Danai Veltra; Konstantina Kosma; Christalena Sofocleous; Peter Henneman; Bekim Sadikovic; Mieke M. van Haelst
Epidemiological and clinical data from the European Lipodystrophy Registry

来自欧洲脂质营养不良登记处的流行病学和临床数据

EUROPEAN JOURNAL OF ENDOCRINOLOGY
IF5.2
2025-11-010
OA
Ceccarini, Giovanni; Vatier, Camille; Akinci, Baris; Belalem, Ines; Broekema, Marjoleine; Csajbok, Eva; Rosaria D'Apice, Maria; Gambineri, Alessandra; Heldt, Kathrin; Heni, Martin; Kleinendorst, Lotte; Krause, Kerstin; Lattanzi, Giovanna; Miehle, Konstanze; Palladino, Lavinia; Prodam, Flavia; Santini, Ferruccio; Santos Silva, Ermelinda; Savage, David B.; Sbraccia, Paolo; Scherer, Thomas; Sorkina, Ekaterina; Stotl, Iztok; Vantyghem, Marie-Christine; Vigouroux, Corinne; Vorona, Elena; Araujo-Vilar, David; Wabitsch, Martin; Nagel, Gabriele; Von Schnurbein, Julia
Treatment of overactive KATP channels with glibenclamide in a zebrafish model and a clinical trial in humans with Cantú syndrome

使用格列本脲治疗zebrafish模型中过度活跃的KATP通道，以及在患有Cantú综合征的人类中进行的临床 trial

SCIENTIFIC REPORTS
IF3.9
2025-05-210
OA
Kleinendorst, Lotte; Siegelaar, Sarah E.; Roessler, Helen I.; Meiwand, Lema; van den Boogaard, Malou; de Bruin-Bon, Rianne H. A. C. M.; van Duinen, Kirsten F.; Planken, R. Nils; Jaspars, Elisabeth H.; Kemperman, Patrick M. J. H.; Bouma, Berto J.; Nichols, Colin G.; Bekkenk, Marcel W.; van Haaften, Gijs W.; van Haelst, Mieke M.
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
HUMAN GENETICS AND GENOMICS ADVANCES
IF3.6
2025-01-010
OAAI
van der Laan, Liselot; Silva, Ananilia; Kleinendorst, Lotte; Rooney, Kathleen; Haghshenas, Sadegheh; Lauffer, Peter; Alanay, Yasemin; Bhai, Pratibha; Brusco, Alfredo; de Munnik, Sonja; de Vries, Bert B. A.; Vega, Angelica Delgado; Engelen, Marc; Herkert, Johanna C.; Hochstenbach, Ron; Hopman, Saskia; Kant, Sarina G.; Kira, Ryutaro; Kato, Mitsuhiro; Keren, Boris; Kroes, Hester Y.; Levy, Michael A.; Lock-Hock, Ngu; Maas, Saskia M.; Mancini, Grazia M. S.; Marcelis, Carlo; Matsumoto, Naomichi; Mizuguchi, Takeshi; Mussa, Alessandro; Mignot, Cyril; Narhi, Anu; Nordgren, Ann; Pfundt, Rolph; Polstra, Abeltje M.; Trajkova, Slavica; van Bever, Yolande; van den Boogaard, Marie Jose; van der Smagt, Jasper J.; Barakat, Tahsin Stefan; Alders, Marielle; Mannens, Marcel M. A. M.; Sadikovic, Bekim; van Haelst, Mieke M.; Henneman, Peter
PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response

PSMD11功能丧失变体与神经行为表型，肥胖和干扰素反应增加相关

AMERICAN JOURNAL OF HUMAN GENETICS
IF8.1
2024-07-013
OAAI
Deb, Wallid; Rosenfelt, Cory; Vignard, Virginie; Papendorf, Jonas Johannes; Moeller, Sophie; Wendlandt, Martin; Studencka-Turski, Maja; Cogne, Benjamin; Besnard, Thomas; Ruffier, Lea; Toutain, Berenice; Poirier, Lea; Cuinat, Silvestre; Kritzer, Amy; Crunk, Amy; diMonda, Janette; Vengoechea, Jaime; Mercier, Sandra; Kleinendorst, Lotte; van Haelst, Mieke M.; Zuurbier, Linda; Sulem, Telma; Katrinardottir, Hildigunnur; Friariksdottir, Run; Sulem, Patrick; Stefansson, Kari; Jonsdottir, Berglind; Zeidler, Shimriet; Sinnema, Margje; Stegmann, Alexander P. A.; Naveh, Natali; Skraban, Cara M.; Gray, Christopher; Murrell, Jill R.; Isikay, Sedat; Pehlivan, Davut; Calame, Daniel G.; Posey, Jennifer E.; Nizon, Mathilde; McWalter, Kirsty; Lupski, James R.; Isidor, Bertrand; Bolduc, Francois V.; Bezieau, Stephane; Kruger, Elke; Kury, Sebastien; Ebstein, Frederic
Developmental epileptic encephalopathy in DLG4-related synaptopathy

DLG4-related突触病的发展性癫痫脑病

EPILEPSIA
IF6.6
2024-02-291
OA
Kassabian, Benedetta; Levy, Amanda M.; Gardella, Elena; Aledo-Serrano, Angel; Ananth, Amitha L.; Brea-Fernandez, Alejandro J.; Caumes, Roseline; Chatron, Nicolas; Dainelli, Alice; De Wachter, Matthias; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Fazzi, Elisa; Felt, Roxanne; Fernandez-Jaen, Alberto; Fernandez-Prieto, Montse; Gantz, Emily; Gasperowicz, Piotr; Gil-Nagel, Antonio; Gomez-Andres, David; Greiner, Hansel M.; Guerrini, Renzo; Haanpaeae, Maria K.; Helin, Minttu; Hoyer, Juliane; Hurst, Anna C. E.; Kallish, Staci; Karkare, Shefali N.; Khan, Amjad; Kleinendorst, Lotte; Koch, Johannes; Kothare, Sanjeev V.; Koudijs, Suzanna M.; Lagae, Lieven; Lakeman, Phillis; Leppig, Kathleen A.; Lesca, Gaetan; Lopergolo, Diego; Lusk, Laina; Mackenzie, Alex; Mei, Davide; Moller, Rikke S.; Pereira, Elaine M.; Platzer, Konrad; Quelin, Chloe; Revah-Politi, Anya; Rheims, Sylvain; Rodriguez-Palmero, Agusti; Rossi, Andrea; Santorelli, Filippo; Seinfeld, Syndi; Sell, Erick; Stephenson, Donna; Szczaluba, Krzysztof; Trinka, Eugen; Umair, Muhammad; Van Esch, Hilde; van Haelst, Mieke M.; Veenma, Danielle C. M.; Weber, Sacha; Weckhuysen, Sarah; Zacher, Pia; Tuemer, Zeynep; Rubboli, Guido
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals
HUMAN GENETICS
IF3.6
2023-12-209
PRE
Schmetz, Ariane; Luedecke, Hermann-Josef; Surowy, Harald; Sivalingam, Sugirtahn; Bruel, Ange-Line; Caumes, Roseline; Charles, Perrine; Chatron, Nicolas; Chrzanowska, Krystyna; Codina-Sola, Marta; Colson, Cindy; Cusco, Ivon; Denomme-Pichon, Anne-Sophie; Edery, Patrick; Faivre, Laurence; Green, Andrew; Heide, Solveig; Hsieh, Tzung-Chien; Hustinx, Alexander; Kleinendorst, Lotte; Knopp, Cordula; Kraft, Florian; Krawitz, Peter M.; Lasa-Aranzasti, Amaia; Lesca, Gaetan; Lopez-Gonzalez, Vanesa; Maraval, Julien; Mignot, Cyril; Neuhann, Teresa; Netzer, Christian; Oehl-Jaschkowitz, Barbara; Petit, Florence; Philippe, Christophe; Posmyk, Renata; Putoux, Audrey; Reis, Andre; Sanchez-Soler, Maria Jose; Suh, Julia; Tkemaladze, Tinatin; Tran Mau Them, Frederic; Travessa, Andre; Trujillano, Laura; Valenzuela, Irene; van Haelst, Mieke M.; Vasileiou, Georgia; Vincent-Delorme, Catherine; Walther, Mona; Verde, Pablo; Bramswig, Nuria C.; Wieczorek, Dagmar
DLG4-related synaptopathy: a new rare brain disorder

DLG4-related突触病: 一种新的罕见的脑部疾病

GENETICS IN MEDICINE
IF6.2
2021-05-0128
OAAI
Rodriguez-Palmero, Agusti; Boerrigter, Melissa Maria; Gomez-Andres, David; Aldinger, Kimberly A.; Marcos-Alcalde, Inigo; Popp, Bernt; Everman, David B.; Lovgren, Alysia Kern; Arpin, Stephanie; Bahrambeigi, Vahid; Beunders, Gea; Bisgaard, Anne-Marie; Bjerregaard, V. A.; Bruel, Ange-Line; Challman, Thomas D.; Cogne, Benjamin; Coubes, Christine; de Man, Stella A.; Denomme-Pichon, Anne-Sophie; Dye, Thomas J.; Elmslie, Frances; Feuk, Lars; Garcia-Minaur, Sixto; Gertler, Tracy; Giorgio, Elisa; Gruchy, Nicolas; Haack, Tobias B.; Haldeman-Englert, Chad R.; Haukanes, Bjorn Ivar; Hoyer, Juliane; Hurst, Anna C. E.; Isidor, Bertrand; Soller, Maria Johansson; Kushary, Sulagna; Kvarnung, Malin; Landau, Yuval E.; Leppig, Kathleen A.; Lindstrand, Anna; Kleinendorst, Lotte; MacKenzie, Alex; Mandrile, Giorgia; Mendelsohn, Bryce A.; Moghadasi, Setareh; Morton, Jenny E.; Moutton, Sebastien; Mueller, Amelie J.; O'Leary, Melanie; Pacio-Miguez, Marta; Palomares-Bralo, Maria; Parikh, Sumit; Pfundt, Rolph; Pode-Shakked, Ben; Rauch, Anita; Repnikova, Elena; Revah-Politi, Anya; Ross, Meredith J.; Ruivenkamp, Claudia A. L.; Sarrazin, Elisabeth; Savatt, Juliann M.; Schlueter, Agatha; Schoenewolf-Greulich, Bitten; Shad, Zohra; Shaw-Smith, Charles; Shieh, Joseph T.; Shohat, Motti; Spranger, Stephanie; Thiese, Heidi; Mau-Them, Frederic Tran; van Bon, Bregje; van de Burgt, Ineke; van de Laar, Ingrid M. B. H.; van Drie, Esmee; van Haelst, Mieke M.; van Ravenswaaij-Arts, Conny M.; Verdura, Edgard; Vitobello, Antonio; Waldmueller, Stephan; Whiting, Sharon; Zweier, Christiane; Prada, Carlos E.; de Vries, Bert B. A.; Dobyns, William B.; Reiter, Simone F.; Gomez-Puertas, Paulino; Pujol, Aurora; Tumer, Zeynep

研究方向

暂未获取到该数据
M
Mieke M. van Haelst
H 指数:48论文数:210被引数:8,531
E
Erica L T van den Akker
H 指数:37论文数:216被引数:5,682
E
Elisabeth F. C. van Rossum
H 指数:70论文数:387被引数:1.7万
O
Ozair Abawi
H 指数:11论文数:50被引数:884
J
Jenny A. Visser
H 指数:53论文数:211被引数:1.2万
M
Mila S. Welling
H 指数:8论文数:32被引数:219
M
Mellody I. Cooiman
H 指数:11论文数:13被引数:570
M
Marcel M. A. M. Mannens
H 指数:61论文数:228被引数:1.3万
M
Mesut Savas
H 指数:14论文数:41被引数:1,123
B
Bibian van der Voorn
H 指数:21论文数:68被引数:1,176