Catherine A Brownstein, Ph.D.
This page shows the publications co-authored by Catherine Brownstein and Monica Wojcik.
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2018 12; 176(12):2623-2629.
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54.
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidus. Am J Med Genet A. 2019 07; 179(7):1299-1303.
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405.
The connection strength for co-authors is the sum of the scores for each of their shared publications.
Publication scores are based on many factors, including how long ago they were written and whether the person is a first or senior author.