New genes/loci underlying human sex-determination and DSD revealed by integrating single-cell multi-omics and clinical genomics datasets
Estelle Talouarn, Maëva Elzaïat, Somboon Wankanit, L. Schlick et autres
0 citationsEndocrine Abstracts
Estelle Talouarn
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35Publications signalées
1435Citations signalées
3Affiliations récentes
Institutions déclarées
Domaines associés
Genetic and phenotypic traits in livestockGenetic Mapping and Diversity in Plants and AnimalsSARS-CoV-2 and COVID-19 ResearchPlant tissue culture and regenerationPlant Virus Research Studies
Publications récentes
GDIv2: improving variant selection from human exomes
Estelle Talouarn, Yoann Seeleuthner, Astrid Marchal, Clément Conil et autres
0 citationsBioinformatics Advances
Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a SEMA3E Loss-of-Function Variant
Somboon Wankanit, Maëva Elzaïat, Estelle Talouarn, L. Schlick et autres
0 citationsSexual Development
Human sex-determination and associated pathologies as a model to understand developmental gene regulation
Estelle Talouarn, Maëva Elzaïat, Somboon Wankanit, L. Schlick et autres
0 citationsEndocrine Abstracts
Altered RNA-processing provides a mechanistic framework delineating human sex-reversal associated with pathogenic variants in the RNA-helicase DHX37
Maëva Elzaïat, Estelle Talouarn, Somboon Wankanit, L. Schlick et autres
0 citationsbioRxiv (Cold Spring Harbor Laboratory)
Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C)
Evangelos Bellos, David Santillo, Pierre Vantourout, Heather Jackson et autres
13 citationsThe Journal of Experimental Medicine
Mutations de UNC93B1 : une nouvelle cause de lupus érythémateux systémique et de lupus-engelures monogéniques
Christopher David, Carlos A. Arango-Franco, M. Badony, J. Fouchet et autres
0 citationsLa Revue de Médecine Interne
Gain-of-function human UNC93B1 variants cause systemic lupus erythematosus and chilblain lupus
C. David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet et autres
55 citationsThe Journal of Experimental Medicine
Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang et autres
1 citationGenome Medicine
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang et autres
78 citationsGenome Medicine
Additional file 2 of Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang et autres
0 citationsFigshare
Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
Danyel Lee, Jérémie Le Pen, Ahmad Yatim, Beihua Dong et autres
171 citationsScience
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