van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; Mckee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Calvo, Amparo Sanchis; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

143患者的ARID1B谱: 从非综合征性智力障碍到棺材-西里斯综合征

GENETICS IN MEDICINE

IF6.2

2019-06-0191

OAAI

van der Sluijs, Pleuntje J.; Jansen, Sandra; Vergano, Samantha A.; Adachi-Fukuda, Miho; Alanay, Yasemin; AlKindy, Adila; Baban, Anwar; Bayat, Allan; Beck-Woedl, Stefanie; Berry, Katherine; Bijlsma, Emilia K.; Bok, Levinus A.; Brouwer, Alwin F. J.; van der Burgt, Ineke; Campeau, Philippe M.; Canham, Natalie; Chrzanowska, Krystyna; Chu, Yoyo W. Y.; Chung, Brain H. Y.; Dahan, Karin; De Rademaeker, Marjan; Destree, Anne; Dudding-Byth, Tracy; Earl, Rachel; Elcioglu, Nursel; Elias, Ellen R.; Fagerberg, Christina; Gardham, Alice; Gener, Blanca; Gerkes, Erica H.; Grasshoff, Ute; van Haeringen, Arie; Heitink, Karin R.; Herkert, Johanna C.; den Hollander, Nicolette S.; Horn, Denise; Hunt, David; Kant, Sarina G.; Kato, Mitsuhiro; Kayserili, Hulya; Kersseboom, Rogier; Kilic, Esra; Krajewska-Walasek, Malgorzata; Lammers, Kylin; Laulund, Lone W.; Lederer, Damien; Lees, Melissa; Lopez-Gonzalez, Vanesa; Maas, Saskia; Mancini, Grazia M. S.; Marcelis, Carlo; Martinez, Francisco; Maystadt, Isabelle; McGuire, Marianne; McKee, Shane; Mehta, Sarju; Metcalfe, Kay; Milunsky, Jeff; Mizuno, Seiji; Moeschler, John B.; Netzer, Christian; Ockeloen, Charlotte W.; Oehl-Jaschkowitz, Barbara; Okamoto, Nobuhiko; Olminkhof, Sharon N. M.; Orellana, Carmen; Pasquier, Laurent; Pottinger, Caroline; Riehmer, Vera; Robertson, Stephen P.; Roifman, Maian; Rooryck, Caroline; Ropers, Fabienne G.; Rosello, Monica; Ruivenkamp, Claudia A. L.; Sagiroglu, Mahmut S.; Sallevelt, Suzanne C. E. H.; Sanchis Calvo, Amparo; Simsek-Kiper, Pelin O.; Soares, Gabriela; Solaeche, Lucia; Sonmez, Fatma Mujgan; Splitt, Miranda; Steenbeek, Duco; Stegmann, Alexander P. A.; Stumpel, Constance T. R. M.; Tanabe, Saori; Uctepe, Eyyup; Utine, G. Eda; Veenstra-Knol, Hermine E.; Venkateswaran, Sunita; Vilain, Catheline; Vincent-Delorme, Catherine; Vulto-van Silfhout, Anneke T.; Wheeler, Patricia; Wilson, Golder N.; Wilson, Louise C.; Wollnik, Bernd; Kosho, Tomoki; Wieczorek, Dagmar; Eichler, Evan; Pfundt, Rolph; de Vries, Bert B. A.; Clayton-Smith, Jill; Santen, Gijs W. E.

Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations

HUMAN MOLECULAR GENETICS

IF3.2

2017-03-0829

OAAI

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

HUMAN MUTATION

IF3.7

2016-07-07161

OAAI

Boegershausen, Nina; Gatinois, Vincent; Riehmer, Vera; Kayserili, Huelya; Becker, Jutta; Thoenes, Michaela; Simsek-Kiper, Pelin OEzlem; Barat-Houari, Mouna; Elcioglu, Nursel H.; Wieczorek, Dagmar; Tinschert, Sigrid; Sarrabay, Guillaume; Strom, Tim M.; Fabre, Aurelie; Baynam, Gareth; Sanchez, Elodie; Nuernberg, Gudrun; Altunoglu, Umut; Capri, Yline; Isidor, Bertrand; Lacombe, Didier; Corsini, Carole; Cormier-Daire, Valerie; Sanlaville, Damien; Giuliano, Fabienne; Le Quan Sang, Kim-Hanh; Kayirangwa, Honorine; Nuernberg, Peter; Meitinger, Thomas; Boduroglu, Koray; Zoll, Barbara; Lyonnet, Stanislas; Tzschach, Andreas; Verloes, Alain; Di Donato, Nataliya; Touitou, Isabelle; Netzer, Christian; Li, Yun; Genevieve, David; Yigit, Goekhan; Wollnik, Bernd

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)

HUMAN GENETICS

IF3.6

2015-11-1625

PREAI

Molecular classification of diffuse cerebral WHO grade II/III gliomas using genome- and transcriptome-wide profiling improves stratification of prognostically distinct patient groups

ACTA NEUROPATHOLOGICA

IF9.3

2015-03-18237

OAAI

Weller, Michael; Weber, Ruthild G.; Willscher, Edith; Riehmer, Vera; Hentschel, Bettina; Kreuz, Markus; Felsberg, Joerg; Beyer, Ulrike; Loeffler-Wirth, Henry; Kaulich, Kerstin; Steinbach, Joachim P.; Hartmann, Christian; Gramatzki, Dorothee; Schramm, Johannes; Westphal, Manfred; Schackert, Gabriele; Simon, Matthias; Martens, Tobias; Bostroem, Jan; Hagel, Christian; Sabel, Michael; Krex, Dietmar; Tonn, Joerg C.; Wick, Wolfgang; Noell, Susan; Schlegel, Uwe; Radlwimmer, Bernhard; Pietsch, Torsten; Loeffler, Markus; von Deimling, Andreas; Binder, Hans; Reifenberger, Guido

MOLECULAR GENETIC DETERMINANTS OF LONG-TERM SURVIVAL WITH GLIOBLASTOMA

NEURO-ONCOLOGY

IF13.4

2014-08-260

OAAI

Weller, Michael; Weber, Ruthild G.; Riehmer, Vera; Kaulich, Kerstin; Willscher, Edith; Wirth, Henry; Gietzelt, Jens; Hentschel, Bettina; Westphal, Manfred; Simon, Matthias; Schackert, Gabriele; Schramm, Johannes; Matschke, Jakob; Sabel, Michael C.; Gramatzki, Dorothee; Felsberg, Joerg; Hartmann, Christian; Steinbach, Joachim P.; Schlegel, Uwe; Wick, Wolfgang; Radlwimmer, Bernhard; Pietsch, Torsten; Tonn, Joerg C.; von Deimling, Andreas; Binder, Hans; Loeffler, Markus; Reifenberger, Guido

Genomic Profiling Reveals Distinctive Molecular Relapse Patterns in IDH1/2 Wild-Type Glioblastoma

GENES CHROMOSOMES & CANCER

IF2.8

2014-04-0416

PREAI

Molecular characterization of long-term survivors of glioblastoma using genome-and transcriptome-wide profiling

INTERNATIONAL JOURNAL OF CANCER

IF4.7

2014-03-28126

PRE

Reifenberger, Guido; Weber, Ruthild G.; Riehmer, Vera; Kaulich, Kerstin; Willscher, Edith; Wirth, Henry; Gietzelt, Jens; Hentschel, Bettina; Westphal, Manfred; Simon, Matthias; Schackert, Gabriele; Schramm, Johannes; Matschke, Jakob; Sabel, Michael C.; Gramatzki, Dorothee; Felsberg, Joerg; Hartmann, Christian; Steinbach, Joachim P.; Schlegel, Uwe; Wick, Wolfgang; Radlwimmer, Bernhard; Pietsch, Torsten; Tonn, Joerg C.; von Deimling, Andreas; Binder, Hans; Weller, Michael; Loeffler, Markus

Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis

HUMAN GENETICS

IF3.6

2013-04-0423

PREAI

Overexpression of Far Upstream Element Binding Proteins: A Mechanism Regulating Proliferation and Migration in Liver Cancer Cells

HEPATOLOGY

IF15.8

2009-10-01100

OAAI

Vera Riehmer

个人简介

教育背景

工作经历

荣誉奖项

研究方向