Erin Torti

ORCID：0000-0001-5790-1051

发表论文 67 篇 · 总被引 1911 次 · h-index 24

代表论文

• SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice (2022 · Nature Communications · 被引 40)
• Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition (2022 · Molecular Psychiatry · 被引 35)
• Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 (2022 · Neurology · 被引 24)
• Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling (2022 · Genetics in Medicine · 被引 23)
• Rare pathogenic variants in WNK3 cause X-linked intellectual disability (2022 · Genetics in Medicine · 被引 16)
• Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities (2022 · Genetics in Medicine · 被引 9)