Saquib Ali Lakhani

机构：Cedars-Sinai Medical Center, Yale University · ORCID：0000-0003-3235-3460

发表论文 88 篇 · 总被引 4361 次 · h-index 23

代表论文

Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation (2021 · Nature Immunology · 被引 109)
DYNC1H1 ‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants (2020 · American Journal of Medical Genetics Part A · 被引 44)
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder (2024 · Journal of Clinical Investigation · 被引 29)
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability (2023 · Developmental Biology · 被引 27)
Management of vagus nerve stimulation therapy in the peri‐operative period (2023 · Anaesthesia · 被引 25)
Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome (2020 · Journal of Human Genetics · 被引 24)