Kaya Bilgüvar

Research interests

Publications

• Proceedings of the National Academy of Sciences

  Journal · 2024 · https://doi.org/10.1073/pnas

• Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

  Science · 2022 · https://doi.org/10.1126/science.abo3627

• Comparative transmissibility of SARS-CoV-2 variants Delta and Alpha in New England, USA

  Cell Reports Medicine · 2022 · https://doi.org/10.1016/j.xcrm.2022.100583

• X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

  Science Immunology · 2021 · https://doi.org/10.1126/sciimmunol.abl4348

• Impact of circulating SARS-CoV-2 variants on mRNA vaccine-induced immunity

  Nature · 2021 · https://doi.org/10.1038/s41586-021-04085-y

• Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

  Science · 2020 · https://doi.org/10.1126/science.abd4570

• Autoantibodies against type I IFNs in patients with life-threatening COVID-19

  Science · 2020 · https://doi.org/10.1126/science.abd4585

• Mutations disrupting neuritogenesis genes confer risk for cerebral palsy

  Nature Genetics · 2020 · https://doi.org/10.1038/s41588-020-0695-1

• Neuroinvasion of SARS-CoV-2 in human and mouse brain

  The Journal of Experimental Medicine · 2020 · https://doi.org/10.1084/jem.20202135

• Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands

  Nature Genetics · 2017 · https://doi.org/10.1038/ng.3970

• Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

  eLife · 2016 · https://doi.org/10.7554/elife.20125

• Mutational landscape of uterine and ovarian carcinosarcomas implicates histone genes in epithelial–mesenchymal transition

  Proceedings of the National Academy of Sciences · 2016 · https://doi.org/10.1073/pnas.1614120113

• The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

  The American Journal of Human Genetics · 2015 · https://doi.org/10.1016/j.ajhg.2015.06.009

• Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening

  Nature Genetics · 2015 · https://doi.org/10.1038/ng.3278

• De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies

  Science · 2015 · 10.1126/science.aac9396

• Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration

  Proceedings of the National Academy of Sciences · 2013 · https://doi.org/10.1073/pnas.1222732110

• Genomic Analysis of Non- NF2 Meningiomas Reveals Mutations in TRAF7 , KLF4 , AKT1 , and SMO

  Science · 2013 · https://doi.org/10.1126/science.1233009

• De novo mutations revealed by whole-exome sequencing are strongly associated with autism

  Nature · 2012 · https://doi.org/10.1038/nature10945

• Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

  Neuron · 2011 · https://doi.org/10.1016/j.neuron.2011.05.002

• Rare Copy Number Variants in Tourette Syndrome Disrupt Genes in Histaminergic Pathways and Overlap with Autism

  Biological Psychiatry · 2011 · https://doi.org/10.1016/j.biopsych.2011.09.034

• Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

  Nature · 2010 · https://doi.org/10.1038/nature09327

• Genome-wide association study of intracranial aneurysm identifies three new risk loci

  Nature Genetics · 2010 · https://doi.org/10.1038/ng.563

• L-Histidine Decarboxylase and Tourette's Syndrome

  New England Journal of Medicine · 2010 · https://doi.org/10.1056/nejmoa0907006

• Susceptibility loci for intracranial aneurysm in European and Japanese populations

  Nature Genetics · 2008 · https://doi.org/10.1038/ng.240

Current projects

No projects listed.