Jill A. Rosenfeld

机构：Baylor College of Medicine, Baylor Genetics · ORCID：0000-0001-5664-7987

发表论文 610 篇 · 总被引 31617 次 · h-index 94

代表论文

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders (2025 · EMBO Molecular Medicine · 被引 8)
GRIN2A null variants confer a high risk for early-onset schizophrenia and other mental disorders and potentially enable precision therapy (2025 · Molecular Psychiatry · 被引 7)
Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes (2025 · Genome Medicine · 被引 5)
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+) (2025 · European Journal of Human Genetics · 被引 5)
Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies (2025 · Nature Communications · 被引 3)
The utility of ultra-deep RNA sequencing in Mendelian disorder diagnostics (2025 · The American Journal of Human Genetics · 被引 3)