Nina Mann

Publications

1. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
2. Advancing the state of the art in congenital obstructive uropathy. Nat Rev Urol. 2024 Nov 29. View Abstract
3. Mechanisms of podocyte injury in genetic kidney disease. Pediatr Nephrol. 2024 Nov 01. View Abstract
4. Genetic Contributions to Lower Urinary Tract Dysfunction. Am J Med Genet A. 2025 Jan; 197(1):e63859. View Abstract
5. Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome. Genes Dis. 2025 Mar; 12(2):101280. View Abstract
6. Categorization of a Universal Coding System to Distinguish Use of Durable Medical Equipment and Supplies in Pediatric Patients. JAMA Netw Open. 2023 10 02; 6(10):e2339449. View Abstract
7. Prioritization of Monogenic Congenital Anomalies of the Kidney and Urinary Tract Candidate Genes with Existing Single-Cell Transcriptomics Data of the Human Fetal Kidney. Nephron. 2023; 147(11):685-692. View Abstract
8. Recessive CHRM5 variant as a potential cause of neurogenic bladder. Am J Med Genet A. 2023 08; 191(8):2083-2091. View Abstract
9. Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and Frogs. J Am Soc Nephrol. 2023 02 01; 34(2):273-290. View Abstract
10. Whole-exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract. Nephrol Dial Transplant. 2022 09 22; 37(10):1833-1843. View Abstract
11. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. Eur Urol Open Sci. 2022 Oct; 44:106-112. View Abstract
12. The effect of gender-affirming hormone treatment on serum creatinine in transgender and gender-diverse youth: implications for estimating GFR. Pediatr Nephrol. 2022 09; 37(9):2141-2150. View Abstract
13. Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models. Am J Med Genet A. 2022 05; 188(5):1355-1367. View Abstract
14. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 02; 24(2):307-318. View Abstract
15. A truncating NRIP1 variant in an Arabic family with congenital anomalies of the kidneys and urinary tract. Am J Med Genet A. 2022 01; 188(1):310-313. View Abstract
16. Exome survey of individuals affected by VATER/VACTERL with renal phenotypes identifies phenocopies and novel candidate genes. Am J Med Genet A. 2021 12; 185(12):3784-3792. View Abstract
17. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 03; 32(3):580-596. View Abstract
18. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis. Am J Hum Genet. 2021 02 04; 108(2):357-367. View Abstract
19. Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans. Nephrol Dial Transplant. 2021 01 25; 36(2):237-246. View Abstract
20. A hemodialysis patient with difficulty ambulating: Questions. Pediatr Nephrol. 2021 Jul; 36(7):2069-2070. View Abstract
21. A hemodialysis patient with difficulty ambulating: Answers. Pediatr Nephrol. 2021 Jul; 36(7):2071-2073. View Abstract
22. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 01; 7(1). View Abstract
23. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches. Kidney Int Rep. 2021 Feb; 6(2):460-471. View Abstract
24. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet. 2020 12 03; 107(6):1113-1128. View Abstract
25. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome. Kidney Int Rep. 2021 Feb; 6(2):472-483. View Abstract
26. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742. View Abstract
27. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet. 2021 07; 58(7):453-464. View Abstract
28. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genet Med. 2020 10; 22(10):1673-1681. View Abstract
29. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet. 2019 12 05; 105(6):1286-1293. View Abstract
30. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int. 2019 10; 96(4):883-889. View Abstract
31. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet. 2019 Oct; 138(10):1105-1115. View Abstract
32. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019 04; 95(4):914-928. View Abstract
33. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 02; 30(2):201-215. View Abstract
34. Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2018 09; 29(9):2348-2361. View Abstract
35. A homozygous missense variant in VWA2, encoding an interactor of the Fraser-complex, in a patient with vesicoureteral reflux. PLoS One. 2018; 13(1):e0191224. View Abstract
36. Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases. Pediatr Nephrol. 2017 Dec; 32(12):2273-2282. View Abstract
37. A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling. J Am Soc Nephrol. 2017 Aug; 28(8):2364-2376. View Abstract
38. CITED4 induces physiologic hypertrophy and promotes functional recovery after ischemic injury. JCI Insight. 2016 Jun 16; 1(9). View Abstract
39. Relationship between Exercise Parameters and Noninvasive Indices of Right Ventricular Function in Patients with Biventricular Circulation and Systemic Right Ventricle. Congenit Heart Dis. 2015 Sep-Oct; 10(5):457-65. View Abstract
40. Can exercise teach us how to treat heart disease? Circulation. 2012 Nov 27; 126(22):2625-35. View Abstract
41. C/EBPß controls exercise-induced cardiac growth and protects against pathological cardiac remodeling. Cell. 2010 Dec 23; 143(7):1072-83. View Abstract
42. Precise engineering of targeted nanoparticles by using self-assembled biointegrated block copolymers. Proc Natl Acad Sci U S A. 2008 Feb 19; 105(7):2586-91. View Abstract
Show All Publications Show Fewer Publications