Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
2014 · Kidney International · 256 citations
https://doi.org/10.1038/ki.2013.508
G
Gabriel C. Dworschak
Claim or correct this author profile
Claim this profile or suggest corrections to the name, affiliation, bio, photo, or paper titles. Approved changes appear as verified CitedEvidence overlays.
46
Papers
1.6K
Citations
20
h-index
25
i10-index
Gabriel C. Dworschak is an academic researcher. The author has contributed to research in topics: Renal and related cancers & Urological Disorders and Treatments & Congenital Diaphragmatic Hernia Studies. The author has an h-index of 20, co-authored 40 publications.
ORCID: 0000-0003-0015-6964Papers by this author
worksClinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy
2024 · JAMA Pediatrics · 50 citations
https://doi.org/10.1001/jamapediatrics.2024.0492
Familial occurrence of the VATER/VACTERL association
2012 · Pediatric Surgery International · 45 citations
https://doi.org/10.1007/s00383-012-3073-y
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
2019 · The American Journal of Human Genetics · 44 citations
https://doi.org/10.1016/j.ajhg.2019.03.023
Genome-wide identification of disease-causing copy number variations in 450 individuals with anorectal malformations
2022 · European Journal of Human Genetics · 7 citations
https://doi.org/10.1038/s41431-022-01216-5
X-linked variations in <i>SHROOM4</i> are implicated in congenital anomalies of the urinary tract and the anorectal, cardiovascular and central nervous systems
2022 · Journal of Medical Genetics · 7 citations
https://doi.org/10.1136/jmg-2022-108738
Research topics
topicsChat about Author
Papers
Chat
Click to start Chat