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Nina Mann, M.D.

Concepts

This page shows the publications Nina Mann has written about Humans.
Connection Strength

0.079
  1. Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome. J Am Soc Nephrol. 2021 03; 32(3):580-596.
    View in: PubMed
    Score: 0.010
  2. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet. 2019 12 05; 105(6):1286-1293.
    View in: PubMed
    Score: 0.009
  3. Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients. J Am Soc Nephrol. 2019 02; 30(2):201-215.
    View in: PubMed
    Score: 0.009
  4. Can exercise teach us how to treat heart disease? Circulation. 2012 Nov 27; 126(22):2625-35.
    View in: PubMed
    Score: 0.006
  5. The effect of gender-affirming hormone treatment on serum creatinine in transgender and gender-diverse youth: implications for estimating GFR. Pediatr Nephrol. 2022 Sep; 37(9):2141-2150.
    View in: PubMed
    Score: 0.003
  6. 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 in: PubMed
    Score: 0.003
  7. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT. Genet Med. 2022 02; 24(2):307-318.
    View in: PubMed
    Score: 0.003
  8. 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 in: PubMed
    Score: 0.003
  9. 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 in: PubMed
    Score: 0.003
  10. 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 in: PubMed
    Score: 0.002
  11. 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 in: PubMed
    Score: 0.002
  12. Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Sci Adv. 2021 01; 7(1).
    View in: PubMed
    Score: 0.002
  13. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation. Am J Hum Genet. 2020 12 03; 107(6):1113-1128.
    View in: PubMed
    Score: 0.002
  14. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 10 01; 107(4):727-742.
    View in: PubMed
    Score: 0.002
  15. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet. 2021 07; 58(7):453-464.
    View in: PubMed
    Score: 0.002
  16. 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 in: PubMed
    Score: 0.002
  17. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int. 2019 10; 96(4):883-889.
    View in: PubMed
    Score: 0.002
  18. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans. Hum Genet. 2019 Oct; 138(10):1105-1115.
    View in: PubMed
    Score: 0.002
  19. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019 04; 95(4):914-928.
    View in: PubMed
    Score: 0.002
  20. 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 in: PubMed
    Score: 0.002
  21. 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 in: PubMed
    Score: 0.002
  22. 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 in: PubMed
    Score: 0.002
  23. 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 in: PubMed
    Score: 0.002
  24. 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 in: PubMed
    Score: 0.001
Connection Strength

The connection strength for concepts is the sum of the scores for each matching publication.

Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.

Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.