Jennifer B. Phillips

机构：University of Oregon · ORCID：0000-0001-7119-7902

发表论文 51 篇 · 总被引 1536 次 · h-index 19

代表论文

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation (2018 · The American Journal of Human Genetics · 被引 76)
Usherin defects lead to early-onset retinal dysfunction in zebrafish (2018 · Experimental Eye Research · 被引 73)
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms (2020 · The American Journal of Human Genetics · 被引 49)
COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay (2021 · The American Journal of Human Genetics · 被引 41)
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes (2019 · The American Journal of Human Genetics · 被引 39)
Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 (2021 · Genetics in Medicine · 被引 26)