Carmen C. Brewer

机构：National Institute on Deafness and Other Communication Disorders · ORCID：0000-0003-1462-049X

发表论文 155 篇 · 总被引 10366 次 · h-index 45

代表论文

• A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome (2023 · Journal of Clinical Investigation · 被引 42)
• Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis (2023 · Nature Genetics · 被引 38)
• TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy (2021 · Human Genetics · 被引 29)
• Variants of LRP2 , encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy (2023 · Clinical Genetics · 被引 23)
• Tissue‐specific genotype–phenotype correlations among USH2A‐related disorders in the RUSH2A study (2022 · Human Mutation · 被引 23)
• GM1 gangliosidosis type II: Results of a 10-year prospective study (2024 · Genetics in Medicine · 被引 19)