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 | 158 | 2023 |
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 | 89 | 2023 |
A genomic timescale for placental mammal evolution NM Foley, VC Mason, AJ Harris, KR Bredemeyer, J Damas, HA Lewin, ... Science 380 (6643), eabl8189, 2023 | 86 | 2023 |
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 | 81 | 2017 |
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 | 74 | 2023 |
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 | 64 | 2023 |
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 | 59 | 2023 |
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 | 55 | 2016 |
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 | 54 | 2023 |
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 | 54 | 2021 |
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 | 53 | 2023 |
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 | 47 | 2023 |
Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture JRS Meadows, JM Kidd, GD Wang, HG Parker, PZ Schall, M Bianchi, ... Genome biology 24 (1), 187, 2023 | 44 | 2023 |
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 | 44 | 2021 |
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 | 38 | 2015 |
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 | 37 | 2011 |
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 | 35 | 2018 |
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 | 34 | 2023 |
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 | 32 | 2011 |
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 | 26 | 2022 |