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Author/Creator Connaughton, Dervla M.

3. 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
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4. 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
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5. Proteomic analysis identifies ZMYM2 as endogenous binding partner of TBX18 protein in 293 and A549 cells. Issue 1 (14th January 2022)

Authors:
Lüdtke, Timo H.-W.; Kleppa, Marc-Jens; Rivera-Reyes, Reginaldo; Qasrawi, Fairouz; Connaughton, Dervla M.; Shril, Shirlee; Hildebrandt, Friedhelm; Kispert, Andreas
Journal:
Biochemical journal
Issue:
Volume 479:Issue 1(2022)
Page Start:
91
Record Type:
Journal Article
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6. Renal transplant outcomes in patients with autosomal dominant tubulointerstitial kidney disease. Issue 2 (5th February 2020)

Authors:
Cormican, Sarah; Kennedy, Claire; Connaughton, Dervla M.; O'Kelly, Patrick; Murray, Susan; Živná, Martina; Kmoch, Stanislav; Fennelly, Neil K.; Benson, Katherine A.; Conlon, Eoin T.; Cavalleri, Gianpiero L.; Foley, Claire; Doyle, Brendan; Dorman, Anthony; Little, Mark A.; Lavin, Peter; Kidd, Kend...
Journal:
Clinical transplantation
Issue:
Volume 34:Issue 2(2020)
Page Start:
n/a
Record Type:
Journal Article
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7. The Irish living kidney donor program – why potential donors do not proceed to live kidney donation?. Issue 1 (24th November 2015)

Authors:
Connaughton, Dervla M.; Harmon, Grainne; Cooney, Anne; Williams, Yvonne; O'Regan, John; O'Neill, Derek; Cunningham, Phyllis; Counihan, Aileen; O'Kelly, Patrick; McHale, Siobhan; Denton, Mark; O'Seaghdha, Conall M.; Magee, Colm; Conlon, Peter; Little, Dilly; Keogan, Mary; de Freitas, Declan G.
Journal:
Clinical transplantation
Issue:
Volume 30:Issue 1(2016)
Page Start:
17
Record Type:
Journal Article
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8. 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
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