| Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates S Jacquemont, RJ Hagerman, M Leehey, J Grigsby, L Zhang, ... The American Journal of Human Genetics 72 (4), 869-878, 2003 | 863 | 2003 |
| Penetrance of the fragile X–associated tremor/ataxia syndrome in a premutation carrier population S Jacquemont, RJ Hagerman, MA Leehey, DA Hall, RA Levine, ... Jama 291 (4), 460-469, 2004 | 739 | 2004 |
| A higher mutational burden in females supports a “female protective model” in neurodevelopmental disorders S Jacquemont, BP Coe, M Hersch, MH Duyzend, N Krumm, S Bergmann, ... The American Journal of Human Genetics 94 (3), 415-425, 2014 | 706 | 2014 |
| 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 |
| Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers CM Greco, RJ Hagerman, F Tassone, AE Chudley, MR Del Bigio, ... Brain 125 (8), 1760-1771, 2002 | 584 | 2002 |
| 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 | 532 | 2011 |
| KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant C Golzio, J Willer, ME Talkowski, EC Oh, Y Taniguchi, S Jacquemont, ... Nature 485 (7398), 363-367, 2012 | 462 | 2012 |
| Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction JA Brunberg, S Jacquemont, RJ Hagerman, EM Berry-Kravis, J Grigsby, ... American Journal of Neuroradiology 23 (10), 1757-1766, 2002 | 431 | 2002 |
| Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056 S Jacquemont, A Curie, V Des Portes, MG Torrioli, E Berry-Kravis, ... Science translational medicine 3 (64), 64ra1-64ra1, 2011 | 422 | 2011 |
| Fragile-X–associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation RJ Hagerman, BR Leavitt, F Farzin, S Jacquemont, CM Greco, ... The American Journal of Human Genetics 74 (5), 1051-1056, 2004 | 418 | 2004 |
| Fragile X‐associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines E Berry‐Kravis, L Abrams, SM Coffey, DA Hall, C Greco, LW Gane, ... Movement disorders: official journal of the Movement Disorder Society 22 (14 …, 2007 | 369 | 2007 |
| A 600 kb deletion syndrome at 16p11. 2 leads to energy imbalance and neuropsychiatric disorders F Zufferey, EH Sherr, ND Beckmann, E Hanson, AM Maillard, L Hippolyte, ... Journal of medical genetics 49 (10), 660-668, 2012 | 311 | 2012 |
| Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus BH Anderson, PR Kasher, J Mayer, M Szynkiewicz, EM Jenkinson, ... Nature genetics 44 (3), 338-342, 2012 | 293 | 2012 |
| Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome EM Berry-Kravis, L Lindemann, AE Jønch, G Apostol, MF Bear, ... Nature reviews Drug discovery 17 (4), 280-299, 2018 | 275 | 2018 |
| Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1 S Jacquemont, RJ Hagerman, PJ Hagerman, MA Leehey The Lancet Neurology 6 (1), 45-55, 2007 | 275 | 2007 |
| The efficacy of melatonin for sleep problems in children with autism, fragile X syndrome, or autism and fragile X syndrome J Wirojanan, S Jacquemont, R Diaz, S Bacalman, TF Anders, ... Journal of Clinical Sleep Medicine 5 (2), 145-150, 2009 | 258 | 2009 |
| Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials E Berry-Kravis, V Des Portes, R Hagerman, S Jacquemont, P Charles, ... Science translational medicine 8 (321), 321ra5-321ra5, 2016 | 253 | 2016 |
| Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations C Le Caignec, M Boceno, P Saugier-Veber, S Jacquemont, M Joubert, ... Journal of Medical Genetics 42 (2), 121-128, 2005 | 237 | 2005 |
| Defining the effect of the 16p11. 2 duplication on cognition, behavior, and medical comorbidities D D’Angelo, S Lebon, Q Chen, S Martin-Brevet, LAG Snyder, L Hippolyte, ... JAMA psychiatry 73 (1), 20-30, 2016 | 234 | 2016 |
| Fourteen new cases contribute to the characterization of the 7q11. 23 microduplication syndrome N Van der Aa, L Rooms, G Vandeweyer, J van den Ende, E Reyniers, ... European journal of medical genetics 52 (2-3), 94-100, 2009 | 229 | 2009 |
