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| 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 | 214 | 2016 |
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| 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 | 130 | 2017 |
| 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 | 121 | 2017 |
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| 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 | 113 | 2019 |
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| 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 | 91 | 2016 |
| 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 | 84 | 2019 |
| 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 | 76 | 2018 |
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| Autosomal-recessive mutations in AP3B2, adaptor-related protein complex 3 beta 2 subunit, cause an early-onset epileptic encephalopathy with optic atrophy M Assoum, C Philippe, B Isidor, L Perrin, P Makrythanasis, N Sondheimer, ... The American Journal of Human Genetics 99 (6), 1368-1376, 2016 | 68 | 2016 |
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Faivre Laurenceprofesseur de génétique, Université de BourgogneZweryfikowany adres z chu-dijon.fr