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Nina Mann, M.D.

Concepts

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

0.342
  1. CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations. Am J Hum Genet. 2019 12 05; 105(6):1286-1293.
    View in: PubMed
    Score: 0.137
  2. 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: 0.037
  3. 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: 0.036
  4. DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet. 2021 07; 58(7):453-464.
    View in: PubMed
    Score: 0.036
  5. 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: 0.033
  6. 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 in: PubMed
    Score: 0.029
  7. 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: 0.009
  8. Mutations in KIRREL1, a slit diaphragm component, cause steroid-resistant nephrotic syndrome. Kidney Int. 2019 10; 96(4):883-889.
    View in: PubMed
    Score: 0.008
  9. Monogenic causes of chronic kidney disease in adults. Kidney Int. 2019 04; 95(4):914-928.
    View in: PubMed
    Score: 0.008
  10. 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: 0.007
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.