| Recurrent rearrangements of chromosome 1q21. 1 and variable pediatric phenotypes HC Mefford, AJ Sharp, C Baker, A Itsara, Z Jiang, K Buysse, S Huang, ... New England Journal of Medicine 359 (16), 1685-1699, 2008 | 847 | 2008 |
| Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11. 2 locus S Jacquemont, A Reymond, F Zufferey, L Harewood, RG Walters, ... Nature 478 (7367), 97-102, 2011 | 536 | 2011 |
| Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 R Lyle, F Béna, S Gagos, C Gehrig, G Lopez, A Schinzel, J Lespinasse, ... European Journal of Human Genetics 17 (4), 454-466, 2009 | 357 | 2009 |
| Multi-omic measurements of heterogeneity in HeLa cells across laboratories Y Liu, Y Mi, T Mueller, S Kreibich, EG Williams, A Van Drogen, C Borel, ... Nature biotechnology 37 (3), 314-322, 2019 | 317 | 2019 |
| Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome MC Bonaglia, R Giorda, S Beri, C De Agostini, F Novara, M Fichera, ... PLoS genetics 7 (7), e1002173, 2011 | 215 | 2011 |
| Modelling and rescuing neurodevelopmental defect of D own syndrome using induced pluripotent stem cells from monozygotic twins discordant for trisomy 21 Y Hibaoui, I Grad, A Letourneau, MR Sailani, S Dahoun, FA Santoni, ... EMBO molecular medicine 6 (2), 259-277, 2014 | 184 | 2014 |
| Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports L Bernardini, S Gimelli, C Gervasini, M Carella, A Baban, G Frontino, ... Orphanet journal of rare diseases 4, 1-6, 2009 | 162 | 2009 |
| Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature F Béna, DL Bruno, M Eriksson, C van Ravenswaaij‐Arts, Z Stark, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 162 …, 2013 | 133 | 2013 |
| Genetic contributors to risk of schizophrenia in the presence of a 22q11. 2 deletion I Cleynen, W Engchuan, MS Hestand, T Heung, AM Holleman, ... Molecular psychiatry 26 (8), 4496-4510, 2021 | 119 | 2021 |
| Extrachromosomal driver mutations in glioblastoma and low-grade glioma S Nikolaev, F Santoni, M Garieri, P Makrythanasis, E Falconnet, ... Nature communications 5 (1), 5690, 2014 | 92 | 2014 |
| Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families P Makrythanasis, M Nelis, FA Santoni, M Guipponi, A Vannier, F Béna, ... Human mutation 35 (10), 1203-1210, 2014 | 91 | 2014 |
| Aluminium chloride promotes anchorage‐independent growth in human mammary epithelial cells AP Sappino, R Buser, L Lesne, S Gimelli, F Béna, D Belin, SJ Mandriota Journal of Applied Toxicology 32 (3), 233-243, 2012 | 86 | 2012 |
| Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13. 3 cause a novel recognisable syndrome B Thienpont, F Béna, J Breckpot, N Philip, B Menten, H Van Esch, ... Journal of medical genetics 47 (3), 155-161, 2010 | 77 | 2010 |
| Quantifying the effects of 16p11. 2 copy number variants on brain structure: a multisite genetic-first study S Martin-Brevet, B Rodríguez-Herreros, JA Nielsen, C Moreau, ... Biological Psychiatry 84 (4), 253-264, 2018 | 75 | 2018 |
| A potential contributory role for ciliary dysfunction in the 16p11. 2 600 kb BP4-BP5 pathology E Migliavacca, C Golzio, K Männik, I Blumenthal, EC Oh, L Harewood, ... The American Journal of Human Genetics 96 (5), 784-796, 2015 | 68 | 2015 |
| A teratocarcinoma-like human embryonic stem cell (hESC) line and four hESC lines reveal potentially oncogenic genomic changes O Hovatta, M Jaconi, V Töhönen, F Béna, S Gimelli, A Bosman, F Holm, ... PloS one 5 (4), e10263, 2010 | 66 | 2010 |
| Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration A Murray, A Letourneau, C Canzonetta, E Stathaki, S Gimelli, ... Stem Cells 33 (6), 2077-2084, 2015 | 65 | 2015 |
| Refinement of the critical 2p25. 3 deletion region: the role of MYT1L in intellectual disability and obesity N De Rocker, S Vergult, D Koolen, E Jacobs, A Hoischen, S Zeesman, ... Genetics in Medicine 17 (6), 460-466, 2015 | 63 | 2015 |
| Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children C Cuoco, P Ronchetto, S Gimelli, F Béna, MT Divizia, M Lerone, ... Orphanet Journal of Rare Diseases 6, 1-6, 2011 | 60 | 2011 |
| PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans P Le Tanno, J Breton, M Bidart, V Satre, R Harbuz, PF Ray, C Bosson, ... Journal of medical genetics 54 (7), 502-510, 2017 | 59 | 2017 |
