Rami Abou Jamra

机构：Institute of Human Genetics, Leipzig University · ORCID：0000-0002-1542-1399

发表论文 325 篇 · 总被引 10294 次 · h-index 55

代表论文

• Detecting monogenic obesity: a systematic exome-wide workup of over 500 individuals (2025 · International Journal of Obesity · 被引 10)
• HCN2 ‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models (2025 · Annals of Neurology · 被引 6)
• Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly (2025 · Journal of Clinical Investigation · 被引 4)
• Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies (2025 · Nature Communications · 被引 3)
• Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function (2025 · Nature Genetics · 被引 3)
• Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development (2025 · Journal of Clinical Investigation · 被引 2)