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Cell|December 25, 2010
C/EBPβ controls exercise-induced cardiac growth and protects against pathological cardiac remodelingPontus Boström, Nina Mann, Jun Wu, et al.
Nephron|July 27, 2023
Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal KidneyLuca M Schierbaum, Sophia Schneider, Florian Buerger, et al.
American Journal of Medical Genetics. Part A|September 15, 2021
A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tractBixia Zheng, Chunyan Wang, Steve Seltzsam, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|September 2, 2021
Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tractBixia Zheng, Steve Seltzsam, Chunyan Wang, et al.
JAMA Network Open|October 24, 2023
Categorization of a Universal Coding System to Distinguish Use of Durable Medical Equipment and Supplies in Pediatric PatientsArda Hotz, Eli Sprecher, Lucia Bastianelli, et al.
Journal of Medical Genetics|July 8, 2020
<i>DLG5</i> variants are associated with multiple congenital anomalies including ciliopathy phenotypesJonathan Marquez, Nina Mann, Kathya Arana, et al.
American Journal of Medical Genetics. Part A|May 22, 2023
Recessive CHRM5 variant as a potential cause of neurogenic bladderSophia Schneider, Luca Schierbaum, Wessel A C Burger, et al.
Pediatric Nephrology (Berlin, Germany)|August 6, 2017
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of casesAsaf Vivante, Hadas Ityel, Ben Pode-Shakked, et al.
Kidney International Reports|February 22, 2021
Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent ApproachesVerena Klämbt, Youying Mao, Ronen Schneider, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|October 24, 2020
Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humansVerena Klämbt, Max Werth, Ana C Onuchic-Whitford, et al.
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