| Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene A Bonnefond, J Philippe, E Durand, A Dechaume, M Huyvaert, ... PloS one 7 (6), e37423, 2012 | 281 | 2012 |
| Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population S Saeed, A Bonnefond, J Manzoor, F Shabir, H Ayesha, J Philippe, ... Obesity 23 (8), 1687-1695, 2015 | 118 | 2015 |
| Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing A Bonnefond, J Philippe, E Durand, J Muller, S Saeed, M Arslan, ... Diabetes care 37 (2), 460-467, 2014 | 81 | 2014 |
| Novel LEPR mutations in obese Pakistani children identified by PCR‐based enrichment and next generation sequencing S Saeed, A Bonnefond, J Manzoor, J Philippe, E Durand, M Arshad, ... Obesity 22 (4), 1112-1117, 2014 | 79 | 2014 |
| Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension M Baron, J Maillet, M Huyvaert, A Dechaume, R Boutry, H Loiselle, ... Nature medicine 25 (11), 1733-1738, 2019 | 70 | 2019 |
| A nonsense loss-of-function mutation in PCSK1 contributes to dominantly inherited human obesity J Philippe, P Stijnen, D Meyre, F De Graeve, D Thuillier, J Delplanque, ... International Journal of Obesity 39 (2), 295-302, 2015 | 68 | 2015 |
| Acoustofluidic rotational tweezing enables high-speed contactless morphological phenotyping of zebrafish larvae C Chen, Y Gu, J Philippe, P Zhang, H Bachman, J Zhang, J Mai, J Rufo, ... Nature communications 12 (1), 1118, 2021 | 67 | 2021 |
| Transcription factor gene MNX1 is a novel cause of permanent neonatal diabetes in a consanguineous family A Bonnefond, E Vaillant, J Philippe, B Skrobek, S Lobbens, L Yengo, ... Diabetes & metabolism 39 (3), 276-280, 2013 | 67 | 2013 |
| Clinical and metabolic features of adult-onset diabetes caused by ABCC8 mutations JP Riveline, E Rousseau, Y Reznik, S Fetita, J Philippe, A Dechaume, ... Diabetes Care 35 (2), 248-251, 2012 | 61 | 2012 |
| Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes A Bonnefond, L Yengo, J Philippe, A Dechaume, I Ezzidi, E Vaillant, ... Diabetologia 56, 492-496, 2013 | 49 | 2013 |
| A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis P Frosk, HH Arts, J Philippe, CS Gunn, EL Brown, B Chodirker, L Simard, ... Journal of medical genetics 54 (7), 490-501, 2017 | 48 | 2017 |
| Human mutation within Per-Arnt-Sim (PAS) domain-containing protein kinase (PASK) causes basal insulin hypersecretion F Semplici, M Vaxillaire, S Fogarty, M Semache, A Bonnefond, G Fontés, ... Journal of Biological Chemistry 286 (51), 44005-44014, 2011 | 37 | 2011 |
| Contactless, programmable acoustofluidic manipulation of objects on water P Zhang, C Chen, F Guo, J Philippe, Y Gu, Z Tian, H Bachman, L Ren, ... Lab on a Chip 19 (20), 3397-3404, 2019 | 35 | 2019 |
| What is the best NGS enrichment method for the molecular diagnosis of monogenic diabetes and obesity? J Philippe, M Derhourhi, E Durand, E Vaillant, A Dechaume, I Rabearivelo, ... PLoS One 10 (11), e0143373, 2015 | 26 | 2015 |
| A novel NEUROG3 mutation in neonatal diabetes associated with a neuro‐intestinal syndrome S Hancili, A Bonnefond, J Philippe, E Vaillant, F De Graeve, O Sand, ... Pediatric diabetes 19 (3), 381-387, 2018 | 24 | 2018 |
| Familial early-onset diabetes is not a typical MODY in several Tunisian patients A Amara, M Chadli-Chaieb, H Ghezaiel, J Philippe, R Brahem, ... Tunis Med 90 (12), 882-7, 2012 | 18 | 2012 |
| Glucose-Dependent Regulation of NR2F2 Promoter and Influence of SNP-rs3743462 on Whole Body Insulin Sensitivity M Boutant, OHP Ramos, C Lecoeur, E Vaillant, J Philippe, P Zhang, ... PLoS One 7 (5), e35810, 2012 | 13 | 2012 |
| Canadian Rare Diseases: Models & Mechanisms Network (2017). A truncating mutation in CEP55 is the likely cause of MARCH, a novel syndrome affecting neuronal mitosis P Frosk, HH Arts, J Philippe, CS Gunn, EL Brown, B Chodirker, L Simard, ... J. Med. Genet 54, 490-501, 0 | 11 | |
| Polyketide synthase plays a conserved role in otolith formation MS Lee, J Philippe, N Katsanis, W Zhou Zebrafish 16 (4), 363-369, 2019 | 4 | 2019 |
| Erratum: Genetic variants in LEP, LEPR, and MC4R explain 30% of severe obesity in children from a consanguineous population S Saeed, A Bonnefond, J Manzoor, F Shabbir, H Ayesha, J Philippe, ... Obesity (Silver Spring, Md.) 25 (4), 807, 2017 | 3 | 2017 |
