Judith Melki
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| Jaber D, Gitiaux C, Blesson S, et al. (2020) De novo mutations of are responsible for arthrogryposis broadening the -related phenotypes. Journal of Medical Genetics |
| Russell BE, Whaley KG, Bove KE, et al. (2019) Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13. Hepatology (Baltimore, Md.) |
| Vivanti A, Ozanne A, Grondin C, et al. (2019) Mutation ephb4 responsable de malformation anévrysmale de la veine de Galien Journal of Neuroradiology. 46: 72-73 |
| Coutelier M, Hammer MB, Stevanin G, et al. (2018) Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes. Jama Neurology |
| Vivanti A, Ozanne A, Grondin C, et al. (2018) Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation. Brain : a Journal of Neurology |
| Legendre M, Rodriguez-Ballesteros M, Rossi M, et al. (2017) CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays. European Journal of Human Genetics : Ejhg |
| Abiusi E, D'Alessandro M, Dieterich K, et al. (2017) Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis. Human Molecular Genetics. 26: 3989-3994 |
| Xue S, Maluenda J, Marguet F, et al. (2017) Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. American Journal of Human Genetics |
| Gauthier-Vasserot A, Thauvin-Robinet C, Bruel AL, et al. (2017) Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. American Journal of Medical Genetics. Part A. 173: 62-71 |
| Topaloglu H, Melki J. (2016) Spinal muscular atrophy associated with progressive myoclonus epilepsy. Epileptic Disorders : International Epilepsy Journal With Videotape. 18: 128-134 |