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Yannis Duffourd
Yannis Duffourd
Verified email at u-bourgogne.fr
Title
Cited by
Cited by
Year
TET2 inactivation results in pleiotropic hematopoietic abnormalities in mouse and is a recurrent event during human lymphomagenesis
C Quivoron, L Couronné, V Della Valle, CK Lopez, I Plo, O Wagner-Ballon, ...
Cancer cell 20 (1), 25-38, 2011
10032011
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
J Thevenon, Y Duffourd, A Masurel‐Paulet, M Lefebvre, F Feillet, ...
Clinical Genetics 89 (6), 700-707, 2016
2532016
BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders
F Damm, V Chesnais, Y Nagata, K Yoshida, L Scourzic, Y Okuno, ...
Blood, The Journal of the American Society of Hematology 122 (18), 3169-3177, 2013
2192013
Mosaic activating mutations in GNA11 and GNAQ are associated with phakomatosis pigmentovascularis and extensive dermal melanocytosis
AC Thomas, Z Zeng, JB Rivière, R O’shaughnessy, L Al-Olabi, JS Onge, ...
Journal of Investigative Dermatology 136 (4), 770-778, 2016
1932016
Exonic mosaic mutations contribute risk for autism spectrum disorder
DR Krupp, RA Barnard, Y Duffourd, SA Evans, RM Mulqueen, R Bernier, ...
The American Journal of Human Genetics 101 (3), 369-390, 2017
1812017
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
S Nambot, J Thevenon, P Kuentz, Y Duffourd, E Tisserant, AL Bruel, ...
Genetics in Medicine 20 (6), 645-654, 2018
1602018
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery
M Toriyama, C Lee, SP Taylor, I Duran, DH Cohn, AL Bruel, JM Tabler, ...
Nature genetics 48 (6), 648-656, 2016
1392016
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life
J Thévenon, M Milh, F Feillet, J St-Onge, Y Duffourd, C Jugé, A Roubertie, ...
The American Journal of Human Genetics 95 (1), 113-120, 2014
1262014
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
P Kuentz, J St-Onge, Y Duffourd, JB Courcet, V Carmignac, T Jouan, ...
Genetics in medicine 19 (9), 989-997, 2017
1102017
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
AL Bruel, B Franco, Y Duffourd, J Thevenon, L Jego, E Lopez, JF Deleuze, ...
Journal of medical genetics 54 (6), 371-380, 2017
1072017
Characterization of novel genomic alterations and therapeutic approaches using acute megakaryoblastic leukemia xenograft models
C Thiollier, CK Lopez, B Gerby, C Ignacimouttou, S Poglio, Y Duffourd, ...
Journal of Experimental Medicine 209 (11), 2017-2031, 2012
1072012
Lysosomal signaling licenses embryonic stem cell differentiation via inactivation of Tfe3
F Villegas, D Lehalle, D Mayer, M Rittirsch, MB Stadler, M Zinner, ...
Cell stem cell 24 (2), 257-270. e8, 2019
1062019
Expanding the phenotype associated with NAA10‐related N‐terminal acetylation deficiency
C Saunier, SI Støve, B Popp, B Gérard, M Blenski, N Ahmew, C De Bie, ...
Human Mutation 37 (8), 755-764, 2016
862016
Impaired presynaptic high-affinity choline transporter causes a congenital myasthenic syndrome with episodic apnea
S Bauché, S O’regan, Y Azuma, F Laffargue, G McMacken, D Sternberg, ...
The American Journal of Human Genetics 99 (3), 753-761, 2016
772016
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological …
L Liang, X Li, S Moutton, SA Schrier Vergano, B Cogné, A Saint-Martin, ...
Human molecular genetics 28 (17), 2937-2951, 2019
742019
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases
B Zurek, K Ellwanger, LELM Vissers, R Schüle, M Synofzik, A Töpf, ...
European journal of human genetics 29 (9), 1325-1331, 2021
662021
STAT3 mutations identified in human hematologic neoplasms induce myeloid malignancies in a mouse bone marrow transplantation model
L Couronné, L Scourzic, C Pilati, V Della Valle, Y Duffourd, E Solary, ...
Haematologica 98 (11), 1748, 2013
662013
A recurrent de novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis
HE Olson, N Jean-Marçais, E Yang, D Heron, K Tatton-Brown, ...
The American Journal of Human Genetics 102 (5), 995-1007, 2018
592018
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature
S El Chehadeh, WS Kerstjens-Frederikse, J Thevenon, P Kuentz, ...
European Journal of Human Genetics 25 (1), 43-51, 2017
562017
Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease
L Allou, S Julia, D Amsallem, S El Chehadeh, L Lambert, J Thevenon, ...
Clinical Genetics 91 (3), 431-440, 2017
552017
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