| A new highly penetrant form of obesity due to deletions on chromosome 16p11. 2 RG Walters, S Jacquemont, A Valsesia, AJ de Smith, D Martinet, ... Nature 463 (7281), 671-675, 2010 | 599 | 2010 |
| Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with … J Amiel, M Rio, L De Pontual, R Redon, V Malan, N Boddaert, P Plouin, ... The American Journal of Human Genetics 80 (5), 988-993, 2007 | 336 | 2007 |
| Fetal growth restriction and intra-uterine growth restriction: guidelines for clinical practice from the French College of Gynaecologists and Obstetricians C Vayssière, L Sentilhes, A Ego, C Bernard, D Cambourieu, C Flamant, ... European journal of obstetrics & gynecology and reproductive biology 193, 10-18, 2015 | 313 | 2015 |
| Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome DA Koolen, JM Kramer, K Neveling, WM Nillesen, HL Moore-Barton, ... Nature genetics 44 (6), 639-641, 2012 | 251 | 2012 |
| Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development S Benko, CT Gordon, D Mallet, R Sreenivasan, C Thauvin-Robinet, ... Journal of medical genetics 48 (12), 825-830, 2011 | 209 | 2011 |
| Mutational, functional, and expression studies of the TCF4 gene in Pitt‐Hopkins syndrome L de Pontual, Y Mathieu, C Golzio, M Rio, V Malan, N Boddaert, C Soufflet, ... Human mutation 30 (4), 669-676, 2009 | 168 | 2009 |
| Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome V Malan, D Rajan, S Thomas, AC Shaw, HL dit Picard, V Layet, M Till, ... The American Journal of Human Genetics 87 (2), 189-198, 2010 | 153 | 2010 |
| Neurobehavioral profile and brain imaging study of the 22q13. 3 deletion syndrome in childhood A Philippe, N Boddaert, L Vaivre-Douret, L Robel, L Danon-Boileau, ... Pediatrics 122 (2), e376-e382, 2008 | 128 | 2008 |
| De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder S Küry, T Besnard, F Ebstein, TN Khan, T Gambin, J Douglas, CA Bacino, ... The American Journal of Human Genetics 100 (2), 352-363, 2017 | 122 | 2017 |
| Targeted exome sequencing identifies PBX1 as involved in monogenic congenital anomalies of the kidney and urinary tract L Heidet, V Morinière, C Henry, L De Tomasi, ML Reilly, C Humbert, ... Journal of the American Society of Nephrology 28 (10), 2901-2914, 2017 | 116 | 2017 |
| Mutations in SETD2 cause a novel overgrowth condition A Luscan, I Laurendeau, V Malan, C Francannet, S Odent, F Giuliano, ... Journal of medical genetics 51 (8), 512-517, 2014 | 116 | 2014 |
| EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia CT Gordon, F Petit, M Oufadem, C Decaestecker, AS Jourdain, J Andrieux, ... Journal of medical genetics 49 (12), 737-746, 2012 | 115 | 2012 |
| 22q11. 2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes MF Portnoï, F Lebas, N Gruchy, A Ardalan, V Biran‐Mucignat, V Malan, ... American Journal of Medical Genetics Part A 137 (1), 47-51, 2005 | 112 | 2005 |
| 15q11. 2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients C Vanlerberghe, F Petit, V Malan, C Vincent-Delorme, S Bouquillon, ... European journal of medical genetics 58 (3), 140-147, 2015 | 101 | 2015 |
| Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families G Baujat, C Huber, J El Hokayem, R Caumes, CDN Thanh, A David, ... Journal of medical genetics 50 (2), 91-98, 2013 | 97 | 2013 |
| Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech C Bonnet, J Andrieux, M Beri-Dexheimer, B Leheup, O Boute, ... Journal of Medical Genetics 47 (6), 377-384, 2010 | 88 | 2010 |
| Interstitial microduplication of Xp22. 31: Causative of intellectual disability or benign copy number variant? F Li, Y Shen, U Köhler, FH Sharkey, D Menon, L Coulleaux, V Malan, ... European journal of medical genetics 53 (2), 93-99, 2010 | 85 | 2010 |
| Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome P Saugier‐Veber, C Bonnet, A Afenjar, V Drouin‐Garraud, C Coubes, ... Human mutation 28 (11), 1098-1107, 2007 | 72 | 2007 |
| Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders C Schluth-Bolard, F Diguet, N Chatron, PA Rollat-Farnier, C Bardel, ... Journal of Medical Genetics 56 (8), 526-535, 2019 | 68 | 2019 |
| A novel microdeletion syndrome at 3q13. 31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features AM Molin, J Andrieux, DA Koolen, V Malan, M Carella, L Colleaux, ... Journal of medical genetics 49 (2), 104-109, 2012 | 68 | 2012 |
