| Mutations in PYCR1 cause cutis laxa with progeroid features B Reversade, N Escande-Beillard, A Dimopoulou, B Fischer, SC Chng, ... Nature genetics 41 (9), 1016-1021, 2009 | 261 | 2009 |
| Metabolic pathway analyses identify proline biosynthesis pathway as a promoter of liver tumorigenesis Z Ding, RE Ericksen, N Escande-Beillard, QY Lee, A Loh, S Denil, ... Journal of hepatology 72 (4), 725-735, 2020 | 82 | 2020 |
| Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa B Fischer-Zirnsak, N Escande-Beillard, J Ganesh, YX Tan, M Al Bughaili, ... The American Journal of Human Genetics 97 (3), 483-492, 2015 | 78 | 2015 |
| Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology S Elouej, K Harhouri, M Le Mao, G Baujat, S Nampoothiri, H Kayserili, ... Nature communications 11 (1), 4589, 2020 | 40 | 2020 |
| Loss of PYCR2 causes neurodegeneration by increasing cerebral glycine levels via SHMT2 N Escande-Beillard, A Loh, SN Saleem, K Kanata, Y Hashimoto, ... Neuron 107 (1), 82-94. e6, 2020 | 35 | 2020 |
| Discriminative features in three autosomal recessive cutis laxa syndromes: cutis laxa IIA, cutis laxa IIB, and geroderma osteoplastica A Kariminejad, F Afroozan, B Bozorgmehr, A Ghanadan, S Akbaroghli, ... International journal of molecular sciences 18 (3), 635, 2017 | 32 | 2017 |
| Enhanced neuronal expression of major histocompatibility complex class I leads to aberrations in neurodevelopment and neurorepair ZP Wu, L Washburn, TV Bilousova, M Boudzinskaia, N Escande-Beillard, ... Journal of neuroimmunology 232 (1-2), 8-16, 2011 | 31 | 2011 |
| Transgenic mice with enhanced neuronal major histocompatibility complex class I expression recover locomotor function better after spinal cord injury MS Joseph, T Bilousova, S Zdunowski, ZP Wu, B Middleton, ... Journal of neuroscience research 89 (3), 365-372, 2011 | 29 | 2011 |
| Neurons preferentially respond to self-MHC class I allele products regardless of peptide presented N Escande-Beillard, L Washburn, D Zekzer, ZP Wu, S Eitan, S Ivkovic, ... The journal of immunology 184 (2), 816-823, 2010 | 28 | 2010 |
| Multiple self-healing palmoplantar carcinoma: a familial predisposition to skin cancer with primary palmoplantar and conjunctival lesions O Mamaï, L Boussofara, M Denguezli, N Escande-Beillard, W Kraeim, ... The Journal of investigative dermatology 135 (1), 304, 2015 | 25 | 2015 |
| Major histocompatibility complex class I-mediated inhibition of neurite outgrowth from peripheral nerves ZP Wu, T Bilousova, N Escande-Beillard, H Dang, T Hsieh, J Tian, ... Immunology letters 135 (1-2), 118-123, 2011 | 21 | 2011 |
| Singapore undiagnosed disease program: genomic analysis aids diagnosis and clinical management NS Bhatia, JY Lim, C Bonnard, JL Kuan, M Brett, H Wei, B Cham, H Chin, ... Archives of disease in childhood 106 (1), 31-37, 2021 | 20 | 2021 |
| Influence of lipid rafts on CD1d presentation by dendritic cells W Peng, C Martaresche, N Escande-Beillard, O Cedile, ... Molecular Membrane Biology 24 (5-6), 475-484, 2007 | 20 | 2007 |
| Congenital insensitivity to pain with anhidrosis syndrome: a series from Jordan A Masri, M Shboul, A Khasawneh, R Jadallah, A ALmustafa, ... Clinical neurology and neurosurgery 189, 105636, 2020 | 15 | 2020 |
| Neonatal lower motor neuron syndrome associated with maternal neuropathy with anti-GM1 IgG S Attarian, JP Azulay, B Chabrol, N Escande-Beillard, J Pouget, ... Neurology 63 (2), 379-381, 2004 | 15 | 2004 |
| INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex LG Mascibroda, M Shboul, ND Elrod, L Colleaux, H Hamamy, KL Huang, ... Nature communications 13 (1), 6054, 2022 | 12 | 2022 |
| A sensitive flow cytometry method for anti-GM1 antibodies detection N Escande-Beillard, MJ David, J Portoukalian, J Pouget, JP Azulay, ... Journal of neuroimmunology 125 (1-2), 163-169, 2002 | 11 | 2002 |
| INTS13 Mutations Causing a Developmental Ciliopathy Disrupt Integrator Complex Assembly LG Mascibroda, M Shboul, ND Elrod, L Colleaux, H Hamamy, KL Huang, ... bioRxiv, 2020.07. 20.209130, 2020 | 10 | 2020 |
| Congenital posterior cervical spine malformation due to biallelic c.240‐4T>G RIPPLY2 variant: A discrete entity M Serey‐Gaut, M Scala, B Reversade, L Ruaud, C Cabrol, F Musacchia, ... American Journal of Medical Genetics Part A 182 (6), 1466-1472, 2020 | 6 | 2020 |
| Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis U Altunoglu, E Börklü, A Shukla, N Escande‐Beillard, S Ledig, H Azaklı, ... Clinical Genetics 101 (2), 221-232, 2022 | 5 | 2022 |
Prof. Dr. Bruno REVERSADEGIS & IMCB @ A*STAR (Singapore) & SMI @ KAUST (Saudi Arabia)Verified email at reversade.com
