Rare early onset lower urinary tract disorders

Search results

• 2026

  Letter to the Editor re: “Berezowska A, Cao K, Chan MMY. Genomic testing in paediatric urology: implications for diagnosis and management. J Ped Urol, in press (JPUROL-D-25-00703R1)”

  The REOLUT lead investigators, Woolf, A. S., Roberts, N., Chan, M. M. Y., Clatworthy, M. R., Long, D. A. & Newman, W. G., 12 Feb 2026, (Accepted/In press) In: Journal of Pediatric Urology.

  Research output: Contribution to journal › Letter › peer-review

• Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

  Di Donato, N., Thom, A., Rump, A., Greve, J. N., Cadiñanos, J., Calabro, S., Cathey, S., Chung, B. K., Cope, H., Costales, M., Cuvertino, S., Dinkel, P., Erripi, K., Fry, A. E., Garavelli, L., Hoffjan, S., Janzarik, W. G., Kreimer, I., Mancini, G. & Marin-Reina, P. & 22 others, Meinhardt, A., Niehaus, I., Pilz, D. T., Ricca, I., Simarro, F. S., Schrock, E., Marquardt, A., Taft, M. H., Tezcan, K., Thunström, S., Verhagen, J., Verloes, A., Wollnik, B., Krawitz, P. M., Hsieh, T.-C., Seifert, M., Heide, M., Lawrence, C., Roberts, N., Manstein, D. J., Woolf, A. & Banka, S., 5 Feb 2026, In: American Journal of Human Genetics. 113, 2, p. 324-341 18 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Isoform 100%
  • Genotype-Phenotype Correlation 100%
  • Missense 66%
  • Actin 66%
  • Protein Catabolism 33%

• Molecular pathways of kidney development and their applications to clinical research

  Ehrhart, F., Martens, H., Rosenblum, N. D., Schedle, A., Schlesinger, T., Gjerstad, A. C., Haffner, D., Ho, J., Evelo, C. T., Woolf, A., Weber, R. G. & Schaefer, F., 1 Feb 2026, In: Kidney International. 109, 2, p. 287-296

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Kidney Development 100%
  • Congenital Anomalies of the Kidney and Urinary Tract 100%
  • Kidney Malformation 60%
  • Candidate Gene 50%
  • Copy-Number Variation 50%

• 2025

  Case Report: Prolonged survival in Schinzel–Giedion syndrome featuring megaureter and de novo SETBP1 mutation

  Newman, W., Beaman, G., Woolf, A. S., Jarvis, B., Metcalfe, K., Keene, D., Goyal, A., Cervellione, R. & Lopes, F., 7 Mar 2025, In: Frontiers in pediatrics. 13, 1534192.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Synapsin I 100%
  • Protein Binding 100%
  • Megaureter 100%
  • Binding Protein 100%
  • Urinary Tract 60%

• Haploinsufficiency of ABL1 is associated with dominant isolated omphalocele

  Kolvenbach, C. M., Yilmaz, O., Lopes, F., Kalanithy, J. C., Lemberg, K., Sharma, V., Majmundar, A., Geyer, M., Woolf, A., Hildebrandt, F., Odermatt, B. & Reutter, H. M., 4 Jul 2025, (Accepted/In press) In: Frontiers in cell and developmental biology. 13

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Haploinsufficiency 100%
  • Messenger RNA 100%
  • Nonsense-Mediated Decay 66%
  • Allele 66%
  • Non-Receptor Tyrosine Kinase 33%

• Organ-specific features of human kidney lymphatics are disrupted in chronic transplant rejection

  Long, D. A., Clatworthy, M. R., Woolf, A. & al, E., 15 Jul 2025, In: The Journal of clinical investigation. 135, 18, e1689623.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Tertiary Lymphoid Structure 100%

• Patient-reported outcomes and measures are under-utilised in advanced therapy medicinal products trials for orphan conditions

  Ciuca, A., Banka, S., Clancy, T., Jones, S., Kirkham, J. J., Newman, W. G., Payne, K. & Moldovan, R., Feb 2025, In: Journal of Clinical Epidemiology. 178, 10 p., 111617.

  Research output: Contribution to journal › Article › peer-review

• The biology of congenital urinary bladder outflow obstruction

  Roberts, N., Chan, M. M. Y. & Woolf, A., 24 Oct 2025, (E-pub ahead of print) In: Trends in molecular medicine.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Bladder 100%
  • Bladder Outlet Obstruction 100%
  • Gene Therapy 50%
  • Obstruction 50%
  • Renal Failure 25%

• 2024

  Human HPSE2 gene transfer ameliorates bladder pathophysiology in a mutant mouse model of urofacial syndrome

  Lopes, F. M., Grenier, C., Jarvis, B. W., Al Mahdy, S., Lène-McKay, A., Gurney, A. M., Newman, W. G., Waddington, S. N., Woolf, A. S. & Roberts, N. A., 11 Jul 2024, In: eLife. 13

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Gene Transfer 100%
  • Bladder 100%
  • Pelvic Ganglion 33%
  • Heparanase 22%
  • Ex Vivo 11%

• When should we offer antenatal sequencing for urinary tract malformations? A systematic review, cohort study and meta-analysis

  Sonner, S., Reilly, K., Woolf, A. S., Chandler, N., Kilby, M. D., Maher, E. R., Flanagan, C., McKnight, A. J. & Mone, F., 1 Feb 2024, In: Prenatal diagnosis. 44, 2

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cohort Study 100%
  • Exome Sequencing 100%
  • Karyotype 66%
  • Microarrays 66%
  • Prospective Cohort Study 33%