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Uggenti, Carolina
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1

Molecular characterization of an intronic RNASEH2B variant ..:

Leung, Marco L. ; Woodhull, Whitney ; Uggenti, Carolina...
European Journal of Medical Genetics.  66 (2023)  4 - p. 104731 , 2023
Link: https://doi.org/10.1016/..
 
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2

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce ..:

Naesens, Leslie ; Nemegeer, Josephine ; Roelens, Filip...
Journal of Clinical Immunology.  42 (2022)  5 - p. 962-974 , 2022
Link: https://doi.org/10.1007/..
 
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3

cGAS-mediated induction of type I interferon due to inborn ..:

Uggenti, Carolina ; Lepelley, Alice ; Depp, Marine...
Nature Genetics.  52 (2020)  12 - p. 1364-1372 , 2020
Link: https://doi.org/10.1038/..
 
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4

PRIM1 deficiency causes a distinctive primordial dwarfism s..:

Parry, David A. ; Tamayo-Orrego, Lukas ; Carroll, Paula...
Genes & Development.  34 (2020)  21-22 - p. 1520-1533 , 2020
Link: https://doi.org/10.1101/..
 
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5

Mutations in COPA lead to abnormal trafficking of STING to ..:

Lepelley, Alice ; Martin-Niclós, Maria José ; Le Bihan, Melvin...
Journal of Experimental Medicine.  217 (2020)  11 - p. , 2020
Link: https://doi.org/10.1084/..
 
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6

Biallelic mutations in NRROS cause an early onset lethal mi..:

Smith, Colin ; McColl, Barry W. ; Patir, Anirudh...
Acta Neuropathologica.  139 (2020)  5 - p. 947-951 , 2020
Link: https://doi.org/10.1007/..
 
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7

A sensitive and affordable multiplex RT-qPCR assay for SARS..:

Reijns, Martin A. M. ; Thompson, Louise ; Acosta, Juan Carlos...
PLOS Biology.  18 (2020)  12 - p. e3001030 , 2020
Link: https://doi.org/10.1371/..
 
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8

Anti-MDA5 juvenile idiopathic inflammatory myopathy: a spec..:

Melki, Isabelle ; Devilliers, Hervé ; Gitiaux, Cyril...
Rheumatology.  59 (2019)  8 - p. 1927-1937 , 2019
Link: https://doi.org/10.1093/..
 
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9

Sort Your Self Out!:

Uggenti, Carolina ; Crow, Yanick J.
Cell.  172 (2018)  4 - p. 640-642 , 2018
Link: https://doi.org/10.1016/..
 
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10

Brief Report: Blockade of TANK‐Binding Kinase 1/IKKɛ Inhibi..:

Frémond, Marie‐Louise ; Uggenti, Carolina ; Van Eyck, Lien...
Arthritis & Rheumatology.  69 (2017)  7 - p. 1495-1501 , 2017
Link: https://doi.org/10.1002/..
 
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11

Disease-associated mutations identify a novel region in hum..:

Melki, Isabelle ; Rose, Yoann ; Uggenti, Carolina...
Journal of Allergy and Clinical Immunology.  140 (2017)  2 - p. 543-552.e5 , 2017
Link: https://doi.org/10.1016/..
 
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12

Type I interferon-mediated autoinflammation due to DNase II..:

Rodero, Mathieu P. ; Tesser, Alessandra ; Bartok, Eva...
Nature Communications.  8 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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13

Erratum: Corrigendum: Mutations in SNORD118 cause the cereb..:

Jenkinson, Emma M ; Rodero, Mathieu P ; Kasher, Paul R...
Nature Genetics.  49 (2017)  2 - p. 317-317 , 2017
Link: https://doi.org/10.1038/..
 
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14

Metabolic regulation of Ca2+ homeostasis as a novel therape..:

James, Andrew ; Patel, Waseema ; Butt, Zohra...
Pancreatology.  16 (2016)  3 - p. S30 , 2016
Link: https://doi.org/10.1016/..
 
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15

Mutations in SNORD118 cause the cerebral microangiopathy le..:

Jenkinson, Emma M ; Rodero, Mathieu P ; Kasher, Paul R...
Nature Genetics.  48 (2016)  10 - p. 1185-1192 , 2016
Link: https://doi.org/10.1038/..
 
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