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Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease Claus, Laura R.; Chen, Chuan; Stallworth, Jennifer; Turner, Joshua L.; Slaats, Gisela G.; Hawks, Alexandra L.; Mabillard, Holly; Senum, Sarah R.; Srikanth, Sujata; Flanagan-Steet, Heather; Louie, Raymond J.; Silver, Josh; Lerner-Ellis, Jordan; Morel, Chantal; Mighton, Chloe; Sleutels, Frank; van Slegtenhorst, Marjon; van Ham, Tjakko; Brooks, Alice S.; Dorresteijn, Eiske M.; Barakat, Tahsin Stefan; Dahan, Karin; Demoulin, Nathalie; Goffin, Eric Jean; Olinger, Eric; Larsen, Martin; Hertz, Jens Michael; Lilien, Marc R.; Obeidova, Lena; Seeman, Tomas; Stone, Hillarey K.; Kerecuk, Larissa; Gurgu, Mihai; Yengej, Fjodor A. Yousef; Ammerlaan, Carola M. E.; Rookmaaker, Maarten B.; Hanna, Christian; Rogers, R. Curtis; Duran, Karen; Peters, Edith; Sayer, John A.; van Haaften, Gijs; Harris, Peter C.; Ling, Kun; Mason, Jennifer M.; van Eerde, Albertien M.; Steet, Richard Share Save
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Epidemiology, Outcomes, and Complement Gene Variants in Secondary Thrombotic Microangiopathies Werion, Alexis; Storms, Pauline; Zizi, Ysaline; Beguin, Claire; Bernards, Jelle; Cambier, Jean-Francois; Dahan, Karin; Dierickx, Daan; Godefroid, Nathalie; Hilbert, Pascale; Lambert, Catherine; Levtchenko, Elena; Meyskens, Thomas; Poire, Xavier; van den Heuvel, Lambert J.; Claes, Kathleen; Morelle, Johann; UCLouvain TMA HUS Network; KU Leuven TMA HUS Network Share Save
Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency Gallon, Richard; Phelps, Rachel; Hayes, Christine; Brugieres, Laurence; Guerrini-Rousseau, Lea; Colas, Chrystelle; Muleris, Martine; Ryan, Neil A. J.; Evans, D. Gareth; Grice, Hannah; Jessop, Emily; Kunzemann-Martinez, Annabel; Marshall, Lilla; Schamschula, Esther; Oberhuber, Klaus; Azizi, Amedeo A.; Feldman, Hagit Baris; Beilken, Andreas; Brauer, Nina; Brozou, Triantafyllia; Dahan, Karin; Demirsoy, Ugur; Florkin, Benoit; Foulkes, William; Januszkiewicz-Lewandowska, Danuta; Jones, Kristi J.; Kratz, Christian P.; Lobitz, Stephan; Meade, Julia; Nathrath, Michaela; Pander, Hans-Jurgen; Perne, Claudia; Ragab, Iman; Ripperger, Tim; Rosenbaum, Thorsten; Rueda, Daniel; Sarosiek, Tomasz; Sehested, Astrid; Spier, Isabel; Suerink, Manon; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M.; Wimmer, Katharina; Burn, John; Jackson, Michael S.; Santibanez-Koref, Mauro Share Save
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Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype Isidor, Bertrand; Ebstein, Frederic; Hurst, Anna; Vincent, Marie; Bader, Ingrid; Rudy, Natasha L.; Cogne, Benjamin; Mayr, Johannes; Brehm, Anja; Bupp, Caleb; Warren, Kathryn; Bacino, Carlos A.; Gerard, Amanda; Ranells, Judith D.; Metcalfe, Kay A.; van Bever, Yolande; Jiang, Yong-Hui; Mendelssohn, Bryce A.; Cope, Heidi; Rosenfeld, Jill A.; Blackburn, Patrick R.; Goodenberger, McKinsey L.; Kearney, Hutton M.; Kennedy, Joanna; Scurr, Ingrid; Szczaluba, Krzysztof; Ploski, Rafal; Martin, Anne de Saint; Alembik, Yves; Piton, Amelie; Bruel, Ange-Line; Thauvin-Robinet, Christel; Strong, Alanna; Diderich, Karin E. M.; Bourgeois, Dominique; Dahan, Karin; Vignard, Virginie; Bonneau, Dominique; Colin, Estelle; Barth, Magalie; Camby, Caroline; Baujat, Genevieve; Briceno, Ignacio; Gomez, Alberto; Deb, Wallid; Conrad, Solene; Besnard, Thomas; Bezieau, Stephane; Krueger, Elke; Kury, Sebastien; Stankiewicz, Pawel Share Save
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Molecular basis for arginine C-terminal degron recognition by Cul2FEM1 E3 ligase Chen, Xinyan; Liao, Shanhui; Makaros, Yaara; Guo, Qiong; Zhu, Zhongliang; Krizelman, Rina; Dahan, Karin; Tu, Xiaoming; Yao, Xuebiao; Koren, Itay; Xu, Chao Share Save
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1 Olinger, Eric; Hofmann, Patrick; Kidd, Kendrah; Dufour, Ines; Belge, Hendrica; Schaeffer, Celine; Kipp, Anne; Bonny, Olivier; Deltas, Constantinos; Demoulin, Nathalie; Fehr, Thomas; Fuster, Daniel G.; Gale, Daniel P.; Goffin, Eric; Hodanova, Katerina; Huynh-Do, Uyen; Kistler, Andreas; Morelle, Johann; Papagregoriou, Gregory; Pirson, Yves; Sandford, Richard; Sayer, John A.; Torra, Roser; Venzin, Christina; Venzin, Reto; Vogt, Bruno; Zivna, Martina; Greka, Anna; Dahan, Karin; Rampoldi, Luca; Kmoch, Stanislav; Bleyer, Anthony J., Sr.; Devuyst, Olivier Share Save
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults Hureaux, Marguerite; Ashton, Emma; Dahan, Karin; Houillier, Pascal; Blanchard, Anne; Cormier, Catherine; Koumakis, Eugenie; Iancu, Daniela; Belge, Hendrica; Hilbert, Pascale; Rotthier, Annelies; Del Favero, Jurgen; Schaefer, Franz; Kleta, Robert; Bockenhauer, Detlef; Jeunemaitre, Xavier; Devuyst, Olivier; Walsh, Stephen B.; Vargas-Poussou, Rosa Share Save
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers Gonzalez-Acosta, Maribel; Marin, Fatima; Puliafito, Benjamin; Bonifaci, Nuria; Fernandez, Anna; Navarro, Matilde; Salvador, Hector; Balaguer, Francesc; Iglesias, Silvia; Velasco, Angela; Garces, Elia Grau; Moreno, Victor; Gonzalez-Granado, Luis Ignacio; Guerra-Garcia, Pilar; Ayala, Rosa; Florkin, Benoit; Kratz, Christian; Ripperger, Tim; Rosenbaum, Thorsten; Januszkiewicz-Lewandowska, Danuta; Azizi, Amedeo A.; Ragab, Iman; Nathrath, Michaela; Pander, Hans-Juergen; Lobitz, Stephan; Suerink, Manon; Dahan, Karin; Imschweiler, Thomas; Demirsoy, Ugur; Brunet, Joan; Lazaro, Conxi; Rueda, Daniel; Wimmer, Katharina; Capella, Gabriel; Pineda, Marta Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome (vol 21, pg 1295, 2019) 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. Share Save
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome 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. Share Save
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes Gallon, Richard; Muehlegger, Barbara; Wenzel, Soeren-Sebastian; Sheth, Harsh; Hayes, Christine; Aretz, Stefan; Dahan, Karin; Foulkes, William; Kratz, Christian P.; Ripperger, Tim; Azizi, Amedeo A.; Feldman, Hagit Baris; Chong, Anne-Laure; Demirsoy, Ugur; Florkin, Benoit; Imschweiler, Thomas; Januszkiewicz-Lewandowska, Danuta; Lobitz, Stephan; Nathrath, Michaela; Pander, Hans-Juergen; Perez-Alonso, Vanesa; Perne, Claudia; Ragab, Iman; Rosenbaum, Thorsten; Rueda, Daniel; Seidel, Markus G.; Suerink, Manon; Taeubner, Julia; Zimmermann, Stefanie-Yvonne; Zschocke, Johannes; Borthwick, Gillian M.; Burn, John; Jackson, Michael S.; Santibanez-Koref, Mauro; Wimmer, Katharina Share Save
Genotype and Outcome After Kidney Transplantation in Alport Syndrome Gillion, Valentine; Dahan, Karin; Cosyns, Jean-Pierre; Hilbert, Pascale; Jadoul, Michel; Goffin, Eric; Godefroid, Nathalie; De Meyer, Martine; Mourad, Michel; Pirson, Yves; Kanaan, Nada Share Save
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies Ashton, Emma J.; Legrand, Anne; Benoit, Valerie; Roncelin, Isabelle; Venisse, Annabelle; Zennaro, Maria-Christina; Jeunemaitre, Xavier; Iancu, Daniela; van't Hoff, William G.; Walsh, Stephen B.; Godefroid, Nathalie; Rotthier, Annelies; Del Favero, Jurgen; Devuyst, Olivier; Schaefer, Franz; Jenkins, Lucy A.; Kleta, Robert; Dahan, Karin; Vargas-Poussou, Rosa; Bockenhauer, Detlef Share Save
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848 Koczkowska, Magdalena; Chen, Yunjia; Callens, Tom; Gomes, Alicia; Sharp, Angela; Johnson, Sherrell; Hsiao, Meng-Chang; Chen, Zhenbin; Balasubramanian, Meena; Barnett, Christopher P.; Becker, Troy A.; Ben-Shachar, Shay; Bertola, Debora R.; Blakeley, Jaishri O.; Burkitt-Wright, Emma M. M.; Callaway, Alison; Crenshaw, Melissa; Cunha, Karin S.; Cunningham, Mitch; D'Agostino, Maria D.; Dahan, Karin; De Luca, Alessandro; Destree, Anne; Dhamija, Radhika; Eoli, Marica; Evans, D. Gareth R.; Galvin-Parton, Patricia; George-Abraham, Jaya K.; Gripp, Karen W.; Guevara-Campos, Jose; Hanchard, Neil A.; Hernandez-Chico, Concepcion; Immken, LaDonna; Janssens, Sandra; Jones, Kristi J.; Keena, Beth A.; Kochhar, Aaina; Liebelt, Jan; Martir-Negron, Arelis; Mahoney, Maurice J.; Maystadt, Isabelle; McDougall, Carey; McEntagart, Meriel; Mendelsohn, Nancy; Miller, David T.; Mortier, Geert; Morton, Jenny; Pappas, John; Plotkin, Scott R.; Pond, Dinel; Rosenbaum, Kenneth; Rubin, Karol; Russell, Laura; Rutledge, Lane S.; Saletti, Veronica; Schonberg, Rhonda; Schreiber, Allison; Seidel, Meredith; Siqveland, Elizabeth; Stockton, David W.; Trevisson, Eva; Ullrich, Nicole J.; Upadhyaya, Meena; van Minkelen, Rick; Verhelst, Helene; Wallace, Margaret R.; Yap, Yoon-Sim; Zackai, Elaine; Zonana, Jonathan; Zurcher, Vickie; Claes, Kathleen; Martin, Yolanda; Korf, Bruce R.; Legius, Eric; Messiaen, Ludwine M. Share Save
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