1. A homozygous truncating ETV4 variant in a Nigerian family with congenital anomalies of the kidney and urinary tract. Issue 5 (24th January 2023) Authors: Kolvenbach, Caroline M.; Zheng, Bixia; Merz, Lea M.; Mertens, Nils D.; Mansour, Bshara; Wang, Chunyan; Seltzsam, Steve; Schneider, Sophia; Schierbaum, Luca; Pantel, Dalia; Chen, Jing; van der Ven, Amelie T.; Bello, Jibril O.; Shril, Shirlee; Hildebrandt, Friedhelm Journal: American journal of medical genetics Issue: Volume 191:Issue 5(2023) Page Start: 1355 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. Issue 12 (2nd August 2021) Authors: Kolvenbach, Caroline M.; van der Ven, Amelie T.; Kause, Franziska; Shril, Shirlee; Scala, Marcello; Connaughton, Dervla M.; Mann, Nina; Nakayama, Makiko; Dai, Rufeng; Kitzler, Thomas M.; Schneider, Ronen; Schierbaum, Luca; Schneider, Sophia; Accogli, Andrea; Torella, Annalaura; Piatelli, Gianluca... Journal: American journal of medical genetics Issue: Volume 185:Issue 12(2021) Page Start: 3784 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. Issue 2 (22nd February 2023) Authors: Klämbt, Verena; Buerger, Florian; Wang, Chunyan; Naert, Thomas; Richter, Karin; Nauth, Theresa; Weiss, Anna-Carina; Sieckmann, Tobias; Lai, Ethan; Connaughton, Dervla M.; Seltzsam, Steve; Mann, Nina; Majmundar, Amar J.; Wu, Chen-Han W.; Onuchic-Whitford, Ana C.; Shril, Shirlee; Schneider, Sophia;... Journal: Journal of the American Society of Nephrology Issue: Volume 34:Issue 2(2023) Page Start: 273 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax. Issue 5 (7th January 2022) Authors: Schneider, Sophia; Köllges, Ricarda; Stegmann, Jil D.; Thieme, Frederic; Hilger, Alina C.; Waffenschmidt, Lea; Fazaal, Julia; Kalanithy, Jeshurun C.; Geipel, Annegret; Strizek, Brigitte; Ludwig, Kerstin U.; Reutter, Heiko; Müller, Andreas Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models. Issue 5 (18th January 2022) Authors: Wang, Chunyan; Seltzsam, Steve; Zheng, Bixia; Wu, Chen‐Han Wilfred; Nicolas‐Frank, Camille; Yousef, Kirollos; Au, Kit Sing; Mann, Nina; Pantel, Dalia; Schneider, Sophia; Schierbaum, Luca; Kitzler, Thomas M.; Connaughton, Dervla M.; Mao, Youying; Dai, Rufeng; Nakayama, Makiko; Kari, Jameela A.; El... Journal: American journal of medical genetics Issue: Volume 188:Issue 5(2022) Page Start: 1355 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. Issue 10 (2nd September 2021) Authors: Zheng, Bixia; Seltzsam, Steve; Wang, Chunyan; Schierbaum, Luca; Schneider, Sophia; Wu, Chen-Han Wilfred; Dai, Rufeng; Connaughton, Dervla M; Nakayama, Makiko; Mann, Nina; Stajic, Natasa; Mane, Shrikant; Bauer, Stuart B; Tasic, Velibor; Nam, Hyun Joo; Shril, Shirlee; Hildebrandt, Friedhelm Journal: Nephrology dialysis transplantation Issue: Volume 37:Issue 10(2022) Page Start: 1833 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗