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Author Details

Alexandre Bolze
The Rockefeller University
2010
28
20
PMIDPaper TitleJournal TitlePublished Year
36637017Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation.Genet Med2023
35005651HLA-Aâ¿¿03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination.HGG Adv2022
35411350Wastewater sequencing uncovers early, cryptic SARS-CoV-2 variant transmission.medRxiv2022
35474739SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads.Cell Rep Med2022
35798029Wastewater sequencing reveals early cryptic SARS-CoV-2 variant transmission.Nature2022
35571025Incomplete Penetrance of Population-Based Genetic Screening Results in Electronic Health Record.Front Genet2022
36327219Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.PLoS Genet2022
34385667Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records.Genet Med2021
33861950Emergence and rapid transmission of SARS-CoV-2 B.1.1.7 in the United States.Cell2021
34413140X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19.Sci Immunol2021
32972996Autoantibodies against type I IFNs in patients with life-threatening COVID-19.Science2020
33363283Life-Threatening COVID-19: Defective Interferons Unleash Excessive Inflammation.Med2020
33046911Pathogenic variants in actionable MODY genes are associated with type 2 diabetes.Nat Metab2020
30591557Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis.Proc Natl Acad Sci U S A2019
30165619A 44-Year-Old Female With Overwhelming Sepsis.Clin Infect Dis2019
30072435Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated <i>RPSA</i> exons.Proc Natl Acad Sci U S A2018
27720020Exome and genome sequencing for inborn errors of immunity.J Allergy Clin Immunol2016
25827230Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.Proc Natl Acad Sci U S A2015
26483451The human gene damage index as a gene-level approach to prioritizing exome variants.Proc Natl Acad Sci U S A2015
25918342Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.J Exp Med2015
25840456[Connecting isolated congenital asplenia to the ribosome].Biol Aujourdhui2014
23579497Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.Science2013
22238637A mild form of SLC29A3 disorder: a frameshift deletion leads to the paradoxical translation of an otherwise noncoding mRNA splice variant.PLoS One2012
22560297Congenital asplenia in mice and humans with mutations in a Pbx/Nkx2-5/p15 module.Dev Cell2012
20846672Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases.J Pediatr2011
21727188Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.J Exp Med2011
19720422Inflammatory tumour microenvironment is associated with superior survival in hepatocellular carcinoma patients.J Hepatol2010
21109225Whole-exome-sequencing-based discovery of human FADD deficiency.Am J Hum Genet2010
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Collaborators

Elizabeth T Cirulli
Duke University
Co-authored papers 9
Nicole L Washington
Renaissance Computing Institute, University of North Carolina
Co-authored papers 8
Magnus Isaksson
Uppsala University
Co-authored papers 6
Joseph J Grzymski
NV Center for Genomic Medicine, Desert Research Institute
Co-authored papers 6
Simon White
University Medical School
Co-authored papers 5
Omid Bakhtar
University of Arizona Medical Center
Co-authored papers 3
Duncan MacCannell
Centers for Disease Control and Prevention
Co-authored papers 3
Refugio Robles-Sikisaka
The Scripps Research Institute
Co-authored papers 3
Iva Neveux
Center for Genomic Medicine, Desert Research Institute
Co-authored papers 3
Mark Zeller
Rega Institute, University of Leuven
Co-authored papers 3
Minji Byun
Icahn School of Medicine at Mount Sinai
Co-authored papers 3
Gene W Yeo
University of California
Co-authored papers 3
Peter De Hoff
University of California San Diego
Co-authored papers 3
Shashank Sathe
University of California, USA Institute for Genomic Medicine
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NV Center for Genomic Medicine, Desert Research Institute
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Aaron Harding
Co-authored papers 3
Karthik Gangavarapu
the Scripps Research Institute
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Smruthi Karthikeyan
California Institute of Technology
Co-authored papers 2
Ian McHardy
University of California, Davis Center for Valley Fever
Co-authored papers 2
Adam Buckley
Imperial College London Diabetes Centre
Co-authored papers 2
Niema Moshiri
Bonita Vista High School, University of California San Diego, University of California, San Diego
Co-authored papers 2
David T Pride
University of California San Diego
Co-authored papers 2
Joseph G Gleeson
University of California
Co-authored papers 2
Stephen F Kingsmore
Rady Children's Institute for Genomic Medicine
Co-authored papers 2
Kathleen M Fisch
Center for Computational Biology and Bioinformatics, University of California
Co-authored papers 2
Angela L Scioscia
University of California San Diego
Co-authored papers 2
Edyth Parker
The Scripps Research Institute
Co-authored papers 2
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 2
Alison Sanders
University of California San Diego
Co-authored papers 2
Steven L Gonias
University of California san francisco
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Release 1.2