Tamim H. Shaikh

机构：University of Colorado Anschutz · ORCID：0000-0002-4264-4272

发表论文 114 篇 · 总被引 11896 次 · h-index 48

代表论文

• Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes (2022 · Nature Genetics · 被引 491)
• Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes (2019 · npj Genomic Medicine · 被引 286)
• Kabuki syndrome genes KMT2D and KDM6A : functional analyses demonstrate critical roles in craniofacial, heart and brain development (2015 · Human Molecular Genetics · 被引 197)
• Copy Number Variation Disorders (2017 · Current Genetic Medicine Reports · 被引 97)
• Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder (2015 · Journal of Medical Genetics · 被引 86)
• Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome (2015 · The American Journal of Human Genetics · 被引 74)