Jonathan Rips

机构：Hadassah Medical Center · ORCID：0000-0002-9237-8929

发表论文 21 篇 · 总被引 149 次 · h-index 6

代表论文

• Primary and maternal 3‐methylcrotonyl‐CoA carboxylase deficiency: insights from the Israel newborn screening program (2015 · Journal of Inherited Metabolic Disease · 被引 34)
• National Rapid Genome Sequencing in Neonatal Intensive Care (2024 · JAMA Network Open · 被引 33)
• MARS variant associated with both recessive interstitial lung and liver disease and dominant Charcot-Marie-Tooth disease (2018 · European Journal of Medical Genetics · 被引 30)
• Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child (2020 · European Journal of Human Genetics · 被引 13)
• Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease (2025 · EBioMedicine · 被引 8)
• Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield (2024 · Genetics in Medicine · 被引 7)