| 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 | 554 | 2011 |
| Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility K Dieterich, R Soto Rifo, AK Faure, S Hennebicq, B Ben Amar, M Zahi, ... Nature genetics 39 (5), 661-665, 2007 | 344 | 2007 |
| Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies K Wahbi, R Ben Yaou, E Gandjbakhch, F Anselme, T Gossios, ... Circulation 140 (4), 293-302, 2019 | 206 | 2019 |
| The Aurora Kinase C c. 144delC mutation causes meiosis I arrest in men and is frequent in the North African population K Dieterich, R Zouari, R Harbuz, F Vialard, D Martinez, H Bellayou, ... Human Molecular Genetics 18 (7), 1301-1309, 2009 | 132 | 2009 |
| Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes RB Hufnagel, G Arno, ND Hein, J Hersheson, M Prasad, Y Anderson, ... Journal of medical genetics 52 (2), 85-94, 2015 | 131 | 2015 |
| Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects A Laquérriere, J Maluenda, A Camus, L Fontenas, K Dieterich, F Nolent, ... Human molecular genetics 23 (9), 2279-2289, 2014 | 121 | 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 | 118 | 2012 |
| A framework to identify contributing genes in patients with Phelan-McDermid syndrome AC Tabet, T Rolland, M Ducloy, J Lévy, J Buratti, A Mathieu, D Haye, ... NPJ genomic medicine 2 (1), 32, 2017 | 92 | 2017 |
| The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis K Dieterich, S Quijano-Roy, N Monnier, J Zhou, J Fauré, DA Smirnow, ... Human molecular genetics 22 (8), 1483-1492, 2013 | 83 | 2013 |
| International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita N Dahan‐Oliel, S Cachecho, D Barnes, T Bedard, AM Davison, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019 | 81 | 2019 |
| 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 | 64 | 2017 |
| Mutations in histone acetylase modifier BRPF1 cause an autosomal-dominant form of intellectual disability with associated ptosis F Mattioli, E Schaefer, A Magee, P Mark, GM Mancini, K Dieterich, ... The American Journal of Human Genetics 100 (1), 105-116, 2017 | 63 | 2017 |
| Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy N Monnier, J Lunardi, I Marty, P Mezin, A Labarre-Vila, K Dieterich, ... Neuromuscular Disorders 19 (2), 118-123, 2009 | 61 | 2009 |
| Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features M Miguet, L Faivre, J Amiel, M Nizon, R Touraine, F Prieur, L Pasquier, ... Journal of Medical Genetics 55 (6), 359-371, 2018 | 60 | 2018 |
| Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals H Margot, G Boursier, C Duflos, E Sanchez, J Amiel, JC Andrau, S Arpin, ... Genetics in Medicine 22 (1), 181-188, 2020 | 58 | 2020 |
| Prevalence and characteristics of children with mild intellectual disability in a F rench county M David, K Dieterich, A Billette de Villemeur, PS Jouk, J Counillon, ... Journal of Intellectual Disability Research 58 (7), 591-602, 2014 | 55 | 2014 |
| Classification of arthrogryposis JG Hall, E Kimber, K Dieterich American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019 | 52 | 2019 |
| Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants LX Zhang, G Lemire, C Gonzaga-Jauregui, S Molidperee, ... Genetics in Medicine 22 (8), 1338-1347, 2020 | 46 | 2020 |
| Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita A Laquerriere, D Jaber, E Abiusi, J Maluenda, D Mejlachowicz, A Vivanti, ... Journal of medical genetics 59 (6), 559-567, 2022 | 44 | 2022 |
| Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect M Nizon, V Laugel, KM Flanigan, M Pastore, MA Waldrop, JA Rosenfeld, ... Genetics in Medicine 21 (12), 2713-2722, 2019 | 36 | 2019 |
