Not logged in Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J. M.; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W.; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; Calkoen, Rixje van Beeck; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W. E.; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M.; Bijlsma, Emilia K.; Hakonen, Anna H.; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L.; Welling, Lindsey; Plomp, Astrid S.; Vanhoutte, Els K.; Kalsner, Louisa; Hol, Janna A.; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, Andre; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Ozcan, Kubra; Miot, Stephanie; Volker-Touw, Catharina M. L.; van Gassen, Koen L. I.; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L.; Muir, Alison M.; Sadikovic, Bekim; Brunner, Han G.; Vissers, Lisenka E. L. M.; Shinkai, Yoichi; Kleefstra, Tjitske Share Save
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity Trajkova, Slavica; Kerkhof, Jennifer; Sebastiano, Matteo Rossi; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M.; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo Share Save
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K.; Dabir, Tabib; Morrison, Patrick J.; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E.; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E.; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J. M.; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martinez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D.; Becker, Esther B. E.; Nemeth, Andrea H. Share Save
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model Deng, Ruizhi; Medico-Salsench, Eva; Nikoncuk, Anita; Ramakrishnan, Reshmi; Lanko, Kristina; Kuhn, Nikolas A.; van der Linde, Herma C.; Lor-Zade, Sarah; Albuainain, Fatimah; Shi, Yuwei; Yousefi, Soheil; Capo, Ivan; van den Herik, Evita Medici; van Slegtenhorst, Marjon; van Minkelen, Rick; Geeven, Geert; Mulder, Monique T.; Ruijter, George J. G.; Luetjohann, Dieter; Jacobs, Edwin H.; Houlden, Henry; Pagnamenta, Alistair T.; Metcalfe, Kay; Jackson, Adam; Banka, Siddharth; De Simone, Lenika; Schwaede, Abigail; Kuntz, Nancy; Palculict, Timothy Blake; Abbas, Safdar; Umair, Muhammad; AlMuhaizea, Mohammed; Colak, Dilek; AlQudairy, Hanan; Alsagob, Maysoon; Pereira, Catarina; Trunzo, Roberta; Karageorgou, Vasiliki; Bertoli-Avella, Aida M.; Bauer, Peter; Bouman, Arjan; Hoefsloot, Lies H.; van Ham, Tjakko J.; Issa, Mahmoud; Zaki, Maha S.; Gleeson, Joseph G.; Willemsen, Rob; Kaya, Namik; Arold, Stefan T.; Maroofian, Reza; Sanderson, Leslie E.; Barakat, Tahsin Stefan 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
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021) Pottie, Lore; Adamo, Christin S.; Beyens, Aude; Lutke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil L.; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz; Khan, Naz; Urquhart, Jill E.; Newman, William G.; Metcalfe, Kay; Efthymiou, Stephanie; Maroofian, Reza; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Altweijri, Ikhlass; Alsaleh, Monerah; Abdullah, Sawsan Mohamed; Al-Owain, Mohammad; Hashem, Mais; Houlden, Henry; Alkuraya, Fowzan S.; Sips, Patrick; Sengle, Gerhard; Callewaert, Bert Share Save
Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature Murch, Oliver; Jain, Vani; Benneche, Andreas; Metcalfe, Kay; Hobson, Emma; Prescott, Katrina; Chandler, Kate; Ghali, Neeti; Carmichael, Jenny; Foulds, Nicola C.; Paulsen, Julie; Smeland, Marie F.; Berland, Siren; Fry, Andrew E. Share Save
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome Pottie, Lore; Adamo, Christin S.; Beyens, Aude; Luetke, Steffen; Tapaneeyaphan, Piyanoot; De Clercq, Adelbert; Salmon, Phil L.; De Rycke, Riet; Gezdirici, Alper; Gulec, Elif Yilmaz; Khan, Naz; Urquhart, Jill E.; Newman, William G.; Metcalfe, Kay; Efthymiou, Stephanie; Maroofian, Reza; Anwar, Najwa; Maqbool, Shazia; Rahman, Fatima; Altweijri, Ikhlass; Alsaleh, Monerah; Abdullah, Sawsan Mohamed; Al-Owain, Mohammad; Hashem, Mais; Houlden, Henry; Alkuraya, Fowzan S.; Sips, Patrick; Sengle, Gerhard; Callewaert, Bert Share Save
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy Fry, Andrew E.; Marra, Christopher; Derrick, Anna, V; Pickrell, William O.; Higgins, Adam T.; Naude, Johann te Water; McClatchey, Martin A.; Davies, Sally J.; Metcalfe, Kay A.; Tan, Hui Jeen; Mohanraj, Rajiv; Avula, Shivaram; Williams, Denise; Brady, Lauren, I; Mesterman, Ronit; Tarnopolsky, Mark A.; Zhang, Yuehua; Yang, Ying; Wang, Xiaodong; Rees, Mark, I; Goldfarb, Mitchell; Chung, Seo-Kyung Share Save
De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome Cappuccio, Gerarda; Sayou, Camille; Le Tanno, Pauline; Tisserant, Emilie; Bruel, Ange-Line; El Kennani, Sara; Sa, Joaquim; Low, Karen J.; Dias, Cristina; Havlovicova, Marketa; Hancarova, Miroslava; Eichler, Evan E.; Devillard, Francoise; Moutton, Sebastien; Van-Gils, Julien; Dubourg, Christele; Odent, Sylvie; Gerard, Benedicte; Piton, Amelie; Yamamoto, Toshiyuki; Okamoto, Nobuhiko; Firth, Helen; Metcalfe, Kay; Moh, Anna; Chapman, Kimberly A.; Aref-Eshghi, Erfan; Kerkhof, Jennifer; Torella, Annalaura; Nigro, Vincenzo; Perrin, Laurence; Piard, Juliette; Le Guyader, Gwenael; Jouan, Thibaud; Thauvin-Robinet, Christel; Duffourd, Yannis C.; George-Abraham, Jaya K.; Buchanan, Catherine A.; Williams, Denise; Kini, Usha; Wilson, Kate; Sousa, Sergio B.; Hennekam, Raoul C. M.; Sadikovic, Bekim; Thevenon, Julien; Govin, Jerome; Vitobello, Antonio; Brunetti-Pierri, Nicola; Casari, Giorgio; Pinelli, Michele; Musacchia, Francesco; Mutarelli, Margherita; Carrella, Diego; Vitiello, Giuseppina; Capra, Valeria; Parenti, Giancarlo; Leuzzi, Vincenzo; Selicorni, Angelo; Maitz, Silvia; Banfi, Sandro; Zollino, Marcella; Montomoli, Mario; Milani, Donatelli; Romano, Corrado; Tummolo, Albina; De Brasi, Daniele; Coppola, Antonietta; Santoro, Claudia; Peron, Angela; Pantaleoni, Chiara; Castello, Raffaele; D'Arrigo, Stefano Share Save
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; McKee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, John M., Jr.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark Share Save
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder (vol 19, pg 238, 2020) Shieh, Christine; Jones, Natasha; Vanle, Brigitte; Au, Margaret; Huang, Alden Y.; Silva, Ana P. G.; Lee, Hane; Douine, Emilie D.; Otero, Maria G.; Choi, Andrew; Grand, Katheryn; Taff, Ingrid P.; Delgado, Mauricio R.; Hajianpour, M. J.; Seeley, Andrea; Rohena, Luis; Vernon, Hilary; Gripp, Karen W.; Vergano, Samantha A.; Mahida, Sonal; Naidu, Sakkubai; Sousa, Ana Berta; Wain, Karen E.; Challman, Thomas D.; Beek, Geoffrey; Basel, Donald; Ranells, Judith; Smith, Rosemarie; Yusupov, Roman; Freckmann, Mary-Louise; Ohden, Lisa; Davis-Keppen, Laura; Chitayat, David; Dowling, James J.; Finkel, Richard; Dauber, Andrew; Spillmann, Rebecca; Pena, Loren D. M.; Metcalfe, Kay; Splitt, Miranda; Lachlan, Katherine; Mckee, Shane A.; Hurst, Jane; Fitzpatrick, David R.; Morton, Jenny E. V.; Cox, Helen; Venkateswaran, Sunita; Young, Juan I.; Marsh, Eric D.; Nelson, Stanley F.; Martinez, Julian A.; Graham, John M., Jr.; Kini, Usha; Mackay, Joel P.; Pierson, Tyler Mark Share Save
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis (vol 17, pg 189, 2019) Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Vergano, Samantha A. Schrier; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Livija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Feldman, Hagit Baris; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine Share Save
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Vergano, Samantha A. Schrier; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; Van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Livija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Feldman, Hagit Baris; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine Share Save
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia Vaz, Frederic M.; McDermott, John H.; Alders, Marielle; Wortmann, Saskia B.; Koelker, Stefan; Pras-Raves, Mia L.; Vervaart, Martin A. T.; van Lenthe, Henk; Luyf, Angela C. M.; Elfrink, Hyung L.; Metcalfe, Kay; Cuvertino, Sara; Clayton, Peter E.; Yarwood, Rebecca; Lowe, Martin P.; Lovell, Simon; Rogers, Richard C.; van Kampen, Antoine H. C.; Ruiter, Jos P. N.; Wanders, Ronald J. A.; Ferdinandusse, Sacha; van Weeghel, Michel; Engelen, Marc; Banka, Siddharth 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
Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment Ashraf, Shazia; Kudo, Hiroki; Rao, Jia; Kikuchi, Atsuo; Widmeier, Eugen; Lawson, Jennifer A.; Tan, Weizhen; Hermle, Tobias; Warejko, Jillian K.; Shril, Shirlee; Airik, Merlin; Jobst-Schwan, Tilman; Lovric, Svjetlana; Braun, Daniela A.; Gee, Heon Yung; Schapiro, David; Majmundar, Amar J.; Sadowski, Carolin E.; Pabst, Werner L.; Daga, Ankana; van der Ven, Amelie T.; Schmidt, Johanna M.; Low, Boon Chuan; Gupta, Anjali Bansal; Tripathi, Brajendra K.; Wong, Jenny; Campbell, Kirk; Metcalfe, Kay; Schanze, Denny; Niihori, Tetsuya; Kaito, Hiroshi; Nozu, Kandai; Tsukaguchi, Hiroyasu; Tanaka, Ryojiro; Hamahira, Kiyoshi; Kobayashi, Yasuko; Takizawa, Takumi; Funayama, Ryo; Nakayama, Keiko; Aoki, Yoko; Kumagai, Naonori; Iijima, Kazumoto; Fehrenbach, Henry; Kari, Jameela A.; El Desoky, Sherif; Jalalah, Sawsan; Bogdanovic, Radovan; Stajic, Natasa; Zappel, Hildegard; Rakhmetova, Assel; Wassmer, Sharon-Rose; Jungraithmayr, Therese; Strehlau, Juergen; Kumar, Aravind Selvin; Bagga, Arvind; Soliman, Neveen A.; Mane, Shrikant M.; Kaufman, Lewis; Lowy, Douglas R.; Jairajpuri, Mohamad A.; Lifton, Richard P.; Pei, York; Zenker, Martin; Kure, Shigeo; Hildebrandt, Friedhelm Share Save
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