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Author Details

Irina R Tikhonova
School of Pharmacy, Queen's University Belfast
2006
22
16
Wade Schulz (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36879130Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts.Nat Med2023
34623748D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.Am J Med Genet A2022
35545661Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 variants Alpha and Iota.Commun Biol2022
35399324Rapid emergence of SARS-CoV-2 Omicron variant is associated with an infection advantage over Delta in vaccinated persons.Med2022
33432185Author Correction: Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.Nat Genet2021
34230938Combining genomic and epidemiological data to compare the transmissibility of SARS-CoV-2 lineages.medRxiv2021
32989326Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.Nat Genet2020
33077954Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.Nat Med2020
30578106Mutations in Chromatin Modifier and Ephrin Signaling Genes in Vein of Galen Malformation.Neuron2019
29983323De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.Neuron2018
28856709GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.Ann Neurol2017
27606499Two locus inheritance of non-syndromic midline craniosynostosis via rare <i>SMAD6</i> and common <i>BMP2</i> alleles.Elife2016
26785492De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.Science2015
23665959De novo mutations in histone-modifying genes in congenital heart disease.Nature2013
22038564Genetic diagnosis of neuroacanthocytosis disorders using exome sequencing.Mov Disord2012
23145196Human macrophage response to L. (Viannia) panamensis: microarray evidence for an early inflammatory response.PLoS Negl Trop Dis2012
22266938Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.Nature2012
21399633Genome-wide association study identifies susceptibility loci for IgA nephropathy.Nat Genet2011
19861545Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.Proc Natl Acad Sci U S A2009
18449392Keck Foundation Biotechnology Resource Laboratory, Yale University.Yale J Biol Med2007
16964228Performance comparison of one-color and two-color platforms within the MicroArray Quality Control (MAQC) project.Nat Biotechnol2006
16964229The MicroArray Quality Control (MAQC) project shows inter- and intraplatform reproducibility of gene expression measurements.Nat Biotechnol2006
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Collaborators

Shrikant Mane
Yale School of Medicine
Co-authored papers 17
Richard P Lifton
The Rockefeller University
Co-authored papers 12
Kaya Bilguvar
Acibadem Mehmet Ali Aydinlar University
Co-authored papers 11
Christopher Castaldi
Yale Center for Genome Analysis, Yale School of Medicine
Co-authored papers 11
Shozeb Haider
Co-authored papers 6
Hongyu Zhao
Yale University
Co-authored papers 6
Francesc L??pez-Gir??ldez
Yale Center for Genomic Analysis
Co-authored papers 6
Murat Gunel
Yale School of Medicine
Co-authored papers 5
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Beth Israel Deaconess Medical Center RN380F
Co-authored papers 4
Robert D Bjornson
Co-authored papers 4
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Yale University School of Medicine
Co-authored papers 3
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Yale School of Medicine
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Joseph R Fauver
University of Nebraska Medical Center
Co-authored papers 3
Chantal B F Vogels
Yale School of Public Health
Co-authored papers 3
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Yale School of Public Health
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Nathan D Grubaugh
Yale School of Public Health
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George A Porter
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Angela E Lin
MassGeneral Hospital for Children
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Timothy Feyma
200 University Ave E
Co-authored papers 2
Russell D Wolfinger
SAS Institute
Co-authored papers 2
Patrick J Collins
Co-authored papers 2
Hong Fang
National Center for Toxicological Research (NCTR)
Co-authored papers 2
Ming Shi
Co-authored papers 2
Wenjun Bao
SAS Institute Inc Cary
Co-authored papers 2
Julie S Cohen
Kennedy Krieger Institute
Co-authored papers 2
Christine E Seidman
Brigham and Women's Hospital (Y.K.
Co-authored papers 2
Stephan J Sanders
Co-authored papers 2
Weida Tong
National Center for Toxicological Research
Co-authored papers 2
John Deanfield
Co-authored papers 2
Martina Brueckner
Co-authored papers 2
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