| 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 | 170 | 2018 |
| Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner, LA Suit, ... Neuron 106 (3), 404-420. e8, 2020 | 151 | 2020 |
| Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots E ElInati, P Kuentz, C Redin, S Jaber, F Vanden Meerschaut, J Makarian, ... Human molecular genetics 21 (16), 3695-3702, 2012 | 120 | 2012 |
| HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond C Marini, A Porro, A Rastetter, C Dalle, I Rivolta, D Bauer, R Oegema, ... Brain 141 (11), 3160-3178, 2018 | 117 | 2018 |
| 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 | 116 | 2017 |
| 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 | 105 | 2019 |
| 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 | 92 | 2016 |
| Assisted oocyte activation overcomes fertilization failure in globozoospermic patients regardless of the DPY19L2 status P Kuentz, F Vanden Meerschaut, E Elinati, MH Nasr-Esfahani, T Gurgan, ... Human reproduction 28 (4), 1054-1061, 2013 | 86 | 2013 |
| Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management M Avila, DA Dyment, JV Sagen, J St‐Onge, U Moog, BHY Chung, S Mo, ... Clinical genetics 89 (4), 501-506, 2016 | 76 | 2016 |
| Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome A Quartier, H Poquet, B Gilbert-Dussardier, M Rossi, AS Casteleyn, ... European Journal of Human Genetics 25 (4), 423-431, 2017 | 66 | 2017 |
| A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH C Poirsier, J Besseau-Ayasse, C Schluth-Bolard, J Toutain, C Missirian, ... European Journal of Human Genetics 24 (6), 844-851, 2016 | 61 | 2016 |
| 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 | 58 | 2017 |
| Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare … T Besnard, N Sloboda, A Goldenberg, S Küry, B Cogné, F Breheret, ... Genetics in Medicine 21 (9), 2025-2035, 2019 | 54 | 2019 |
| NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients M Bertacchi, AL Romano, A Loubat, F Tran Mau‐Them, M Willems, ... The EMBO journal 39 (13), e104163, 2020 | 53 | 2020 |
| OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome V Chevrier, AL Bruel, TJP Van Dam, B Franco, M Lo Scalzo, F Lembo, ... Human molecular genetics 25 (3), 497-513, 2016 | 53 | 2016 |
| PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features KJ Low, M Ansari, R Abou Jamra, A Clarke, S El Chehadeh, ... European Journal of Human Genetics 25 (5), 552-559, 2017 | 52 | 2017 |
| STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability D Lehalle, AL Mosca-Boidron, A Begtrup, O Boute-Benejean, P Charles, ... Journal of medical genetics 54 (7), 479-488, 2017 | 43 | 2017 |
| Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome JL Alessandri, CT Gordon, ML Jacquemont, N Gruchy, NF Ajeawung, ... European Journal of Human Genetics 26 (3), 340-349, 2018 | 36 | 2018 |
| Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation M Jordan, V Carmignac, A Sorlin, P Kuentz, J Albuisson, L Borradori, ... Journal of Investigative Dermatology 140 (5), 1106-1110. e2, 2020 | 35 | 2020 |
| MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype T Smol, F Petit, A Piton, B Keren, D Sanlaville, A Afenjar, S Baker, ... Neurogenetics 19, 93-103, 2018 | 34 | 2018 |
Faivre Laurenceprofesseur de génétique, Université de Bourgogne在 chu-dijon.fr 的电子邮件经过验证
