| Machine learning applications in drug development C Réda, E Kaufmann, A Delahaye-Duriez Computational and Structural Biotechnology Journal 18, 241-252, 2020 | 211 | 2020 |
| Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease MR Johnson, K Shkura, SR Langley, A Delahaye-Duriez, P Srivastava, ... Nature Neuroscience, 2015 | 138 | 2015 |
| The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever D Tchernitchko, M Legendre, C Cazeneuve, A Delahaye, F Niel, ... Human mutation 22 (4), 339-340, 2003 | 136 | 2003 |
| Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia N Chassaing, A Causse, A Vigouroux, A Delahaye, JL Alessandri, ... Clinical genetics 86 (4), 326-334, 2014 | 130 | 2014 |
| Haploinsufficiency of SOX5 at 12p12. 1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features AN Lamb, JA Rosenfeld, NJ Neill, ME Talkowski, I Blumenthal, S Girirajan, ... Human Mutation 33 (4), 728-740, 2012 | 119 | 2012 |
| Decreased microglial Wnt/β-catenin signalling drives microglial pro-inflammatory activation in the developing brain J Van Steenwinckel, AL Schang, ML Krishnan, V Degos, ... Brain 142 (12), 3806-3833, 2019 | 111 | 2019 |
| Familial CHARGE syndrome because of CHD7 mutation: clinical intra‐and interfamilial variability A Delahaye, Y Sznajer, S Lyonnet, M Elmaleh‐Bergès, I Delpierre, ... Clinical genetics 72 (2), 112-121, 2007 | 99 | 2007 |
| Rare and common epilepsies converge on a shared gene regulatory network providing opportunities for novel antiepileptic drug discovery A Delahaye-Duriez, P Srivastava, K Shkura, SR Langley, L Laaniste, ... Genome biology 17, 1-18, 2016 | 94 | 2016 |
| Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11 A Goldenberg, F Riccardi, A Tessier, R Pfundt, T Busa, P Cacciagli, ... American Journal of Medical Genetics Part A 170 (11), 2847-2859, 2016 | 85 | 2016 |
| A systems-level framework for drug discovery identifies Csf1R as an anti-epileptic drug target PK Srivastava, J van Eyll, P Godard, M Mazzuferi, A Delahaye-Duriez, ... Nature communications 9 (1), 3561, 2018 | 84 | 2018 |
| A systems-level framework for drug discovery identifies Csf1R as an anti-epileptic drug target PK Srivastava, J van Eyll, P Godard, M Mazzuferi, A Delahaye-Duriez, ... Nature communications 9 (1), 3561, 2018 | 84 | 2018 |
| Genome-wide analysis of differential RNA editing in epilepsy PK Srivastava, M Bagnati, A Delahaye-Duriez, JH Ko, M Rotival, ... Genome Research 27 (3), 440-450, 2017 | 79 | 2017 |
| WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation C Mignot, L Lambert, L Pasquier, T Bienvenu, A Delahaye-Duriez, ... Journal of medical genetics 52 (1), 61-70, 2015 | 79 | 2015 |
| Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships N Bahi‐Buisson, N Villeneuve, E Caietta, A Jacquette, H Maurey, ... American Journal of Medical Genetics Part A 158 (7), 1612-1619, 2012 | 74 | 2012 |
| MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients D Tchernitchko, S Moutereau, M Legendre, A Delahaye, C Cazeneuve, ... Arthritis & Rheumatism 52 (11), 3603-3605, 2005 | 72 | 2005 |
| Chromosome 22q13. 3 deletion syndrome with a de novo interstitial 22q13. 3 cryptic deletion disrupting SHANK3 A Delahaye, A Toutain, A Aboura, C Dupont, AC Tabet, B Benzacken, ... European journal of medical genetics 52 (5), 328-332, 2009 | 61 | 2009 |
| Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series S Jaillard, S Drunat, C Bendavid, A Aboura, A Etcheverry, H Journel, ... European journal of medical genetics 53 (2), 66-75, 2010 | 59 | 2010 |
| 16p13. 11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations LA El Khattabi, S Heide, JH Caberg, J Andrieux, MD Fenzy, ... Journal of Medical Genetics 57 (5), 301-307, 2020 | 58 | 2020 |
| 2q23. 1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? S Jaillard, C Dubourg, M Gérard-Blanluet, A Delahaye, L Pasquier, ... Journal of medical genetics 46 (12), 847-855, 2009 | 58 | 2009 |
| Further delineation of the 17p13. 3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients M Schiff, A Delahaye, J Andrieux, D Sanlaville, C Vincent-Delorme, ... European journal of medical genetics 53 (5), 303-308, 2010 | 51 | 2010 |
