1. FC 011KIDNEYNETWORK: USING KIDNEY DERIVED GENE EXPRESSION DATA TO PREDICT AND PRIORITIZE NOVEL GENES INVOLVED IN KIDNEY DISEASE. (29th May 2021) Authors: Boulogne, Floranne; Claus, Laura; Wiersma, Henry; Oelen, Roy; Schukking, Floor; De Klein, Niek; Li, Shuang; Westra, Harm-Jan; Van der Zwaag, Bert; Van Reekum, Franka; Halbritter, Jan; Knoers, Nine; Research Consortium, Genomics England; Deelen, Patrick; Franke, Lude; Van Eerde, Albertien M Journal: Nephrology dialysis transplantation Issue: Volume 36(2021)Supplement 1 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy. (3rd May 2022) Authors: Claus, Laura; Stallworth, Jennifer; van Jaarsveld, Richard; Turner, Joshu; Hawks, Alexandra; May, Melanie; Flanagan-Steet, Heather; Louie, Raymond; Silver, Josh; Lerner-Ellise, Jordan; Morel, Chantal; Mighton, Chloe; Ziegler, Alban; Barakat, Stefan; Dahan, Karin; Demoulin, Nathalie; Jean Goffin, ... Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT. (3rd May 2022) Authors: Münch, Johannes; Engesser, Marie; Schönauer, Ria; Hamm, J Austin; Akay, Gulsen; Tüysüz, Beyhan; Shirakawa, Toshihiko; Dateki, Sumito; Claus, Laura; van Eerde, Albertien M; Wagner, Timo; Bergmann, Carsten; Buchan, Jillian; Wegner, Tara; Posey, Jennifer; Lupski, James R; Petit, Florence; Mccarthy, ... Journal: Nephrology dialysis transplantation Issue: Volume 37(2022)Supplement 3 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗