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Matteo Bianchi
Matteo Bianchi
Bioinformatician/Researcher, Uppsala University
Verified email at imbim.uu.se
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Cited by
Year
Evolutionary constraint and innovation across hundreds of placental mammals
MJ Christmas, IM Kaplow, DP Genereux, MX Dong, GM Hughes, X Li, ...
Science 380 (6643), eabn3943, 2023
732023
Long-term follow-up in primary Sjögren’s syndrome reveals differences in clinical presentation between female and male patients
JI Ramírez Sepúlveda, M Kvarnström, P Eriksson, T Mandl, KB Norheim, ...
Biology of sex differences 8, 1-9, 2017
702017
Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease
D Eriksson, M Bianchi, N Landegren, J Nordin, F Dalin, A Mathioudaki, ...
Journal of internal medicine 280 (6), 595-608, 2016
522016
Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing
JK Sandling, P Pucholt, LH Rosenberg, FHG Farias, SV Kozyrev, ...
Annals of the rheumatic diseases 80 (1), 109-117, 2021
472021
A genomic timescale for placental mammal evolution
NM Foley, VC Mason, AJ Harris, KR Bredemeyer, J Damas, HA Lewin, ...
Science 380 (6643), eabl8189, 2023
462023
Integrating gene annotation with orthology inference at scale
BM Kirilenko, C Munegowda, E Osipova, D Jebb, V Sharma, M Blumer, ...
Science 380 (6643), eabn3107, 2023
382023
Leveraging base-pair mammalian constraint to understand genetic variation and human disease
PF Sullivan, JRS Meadows, S Gazal, BDN Phan, X Li, DP Genereux, ...
Science 380 (6643), eabn2937, 2023
372023
Genetic relationships and population structure in three Italian Merino-derived sheep breeds
E Lasagna, M Bianchi, S Ceccobelli, V Landi, AM Martínez, JLV Pla, ...
Small Ruminant Research 96 (2-3), 111-119, 2011
372011
Genetic and clinical basis for two distinct subtypes of primary Sjögren’s syndrome
GE Thorlacius, L Hultin-Rosenberg, JK Sandling, M Bianchi, ...
Rheumatology 60 (2), 837-848, 2021
362021
A multi-breed genome-wide association analysis for canine hypothyroidism identifies a shared major risk locus on CFA12
M Bianchi, S Dahlgren, J Massey, E Dietschi, M Kierczak, M Lund-Ziener, ...
PloS one 10 (8), e0134720, 2015
332015
Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison’s disease in Sweden
D Eriksson, M Bianchi, N Landegren, F Dalin, J Skov, L Hultin-Rosenberg, ...
Scientific reports 8 (1), 8395, 2018
322018
Three-dimensional genome rewiring in loci with human accelerated regions
KC Keough, S Whalen, F Inoue, PF Przytycki, T Fair, C Deng, M Steyert, ...
Science 380 (6643), eabm1696, 2023
282023
A microsatellites-based survey on the genetic structure of two Italian local chicken breeds
M Bianchi, S Ceccobelli, V Landi, P Di Lorenzo, E Lasagna, M Ciocchetti, ...
Italian Journal of Animal Science 10 (3), e39, 2011
272011
Insights into mammalian TE diversity through the curation of 248 genome assemblies
AB Osmanski, NS Paulat, J Korstian, JR Grimshaw, M Halsey, ...
Science 380 (6643), eabn1430, 2023
262023
Mammalian evolution of human cis-regulatory elements and transcription factor binding sites
G Andrews, K Fan, HE Pratt, N Phalke, Zoonomia Consortium §, ...
Science 380 (6643), eabn7930, 2023
262023
Relating enhancer genetic variation across mammals to complex phenotypes using machine learning
IM Kaplow, AJ Lawler, DE Schäffer, C Srinivasan, HH Sestili, ME Wirthlin, ...
Science 380 (6643), eabm7993, 2023
262023
The contribution of historical processes to contemporary extinction risk in placental mammals
AP Wilder, MA Supple, A Subramanian, A Mudide, R Swofford, ...
Science 380 (6643), eabn5856, 2023
242023
Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases
C Lundtoft, P Pucholt, M Martin, M Bianchi, E Lundström, ML Eloranta, ...
Arthritis & Rheumatology 74 (8), 1440-1450, 2022
232022
The functional and evolutionary impacts of human-specific deletions in conserved elements
JR Xue, A Mackay-Smith, K Mouri, MF Garcia, MX Dong, JF Akers, ...
Science 380 (6643), eabn2253, 2023
172023
Cytokine autoantibody screening in the Swedish Addison Registry identifies patients with undiagnosed APS1
D Eriksson, F Dalin, GN Eriksson, N Landegren, M Bianchi, Å Hallgren, ...
The Journal of Clinical Endocrinology & Metabolism 103 (1), 179-186, 2018
172018
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