Publications
Publications en lien avec les maladies rares
• 22q11.2 microdeletion syndrome: Analysis of the care pathway before the genetic diagnosis.Ingrao, T ; Lambert, L ; Valduga, M ; Bosser, G ; Albuisson, E ; Leheup, B;Arch Pediatr 2017
• Phenotypic and genetic spectrum of alveolar capillary dysplasia: a retrospective cohort study;Jourdan-Voyen, L ; Touraine, R ; Masutti, JP ; Busa, T ; Vincent-Delorme, C ; Dreyfus, LAMBERT L;Arch Dis Child Fetal Neonatal Ed;
• Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA1 mutation;Bursztejn, AC ; Magdelaine, C ; Mortemousque, B ; Zerah, M ; Schmutz, JL ; Leheup, B;J Eur Acad Dermatol Venereol;2019
• Deletion of chr7p22 and chr15q11: Two Familial Cases of Immune Deficiency: Extending the Phenotype Toward Dysimmunity.Sloboda, N ; Sorlin, A ; Valduga, M ; Beri-Dexheimer, M ; Bilbault, C ; Fouyssac, Leheup,B, Front Immunol,2019.
• Atypical phenotype of a patient with Bardet-Biedl syndrome type 4.Sloboda, N ; Lambert, L ; Ciorna, V ; Bruel, AL ; Tran Mau-Them, F ; Leheup B; Mol Genet Genomic Med;
• A bi-allelic loss-of-function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever.Ravel, JM ; Dreumont, N ; Mosca, P ; Smith, DEC ; Mendes, MI ; Wiedemann, A & al; Hum Mutat, 2021
• First report of a short in-frame biallelic deletion removing part of the EGF-like domain calcium-binding motif in LTBP4 and causing autosomal recessive cutis laxa type 1C. Ravel, JM ; Comel, M ; Wandzel, M ; Bronner, M ; Tatopoulos, A ; Renaud, M: Bonnet C, Am J Med Genet A; 2022
Autres publications scientifiques
• Exome sequencing of cases with neural tube defects identifies candidate genes involved in one-carbon/vitamin B12 metabolisms and Sonic Hedgehog pathway.Renard, E ; Chéry, C ; Oussalah, A ; Josse, T ; Perrin, P ; Tramoy, D & al; Hum Genet; 2019
• Folinic acid improves the score of Autism in the EFFET placebo-controlled randomized trial.Renard, E ; Leheup, B ; Guéant-Rodriguez, RM ; Oussalah, A ; Quadros, EV ; Guéant, JL, Biochimie, 2020
• Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia., Wiessner, M ; Maroofian, R ; Ni, MY ; Pedroni, A ; Müller, JS ; Stucka, R & al, Brain, 2021
• Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature.Vuillaume, ML ; Moizard, MP ; Rossignol, S ; Cottereau, E ; Vonwill, S ; Alessandri, JL & al,Hum mutat, 2018
• Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.,Cousin, MA ; Veale, EL ; Dsouza, NR ; Tripathi, S ; Holden, RG ; Arelin, M & al, Genome Med, 2022
• Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients., Coursimault, J ; Cassinari, K ; Lecoquierre, F ; Quenez, O ; Coutant, S ; Derambure, C & al, Hum Mutat, 2022
• DNA Methylation Signature for <i>JARID2</i>-Neurodevelopmental Syndrome. Verberne, EA ; van der Laan, L ; Haghshenas, S ; Rooney, K ; Levy, MA ; Alders, M & al, Int J Mol Sci,2022
• Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.Allou, L ; Julia, S ; Amsallem, D ; El Chehadeh, S ; Lambert, L ; Thevenon, J & al Clin Genet 2017
• Reproductive technologies, female infertility, and the risk of imprinting-related disorders.Fauque, P ; De Mouzon, J ; Devaux, A ; Epelboin, S ; Gervoise-Boyer, MJ ; Levy, R & al Clin Epigenetics 2020
• Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.Legendre, M ; Abadie, V ; Attié-Bitach, T ; Philip, N ; Busa, T ; Bonneau, D & al, Am J Med Genet C Semin Med Genet 2017
• Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients. Lefebvre, M ; Dieux-Coeslier, A ; Baujat, G ; Schaefer, E ; Judith, SO ; Bazin, A & al, J Med Genet, 2018
• Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses. Bourchany, A ; Thauvin-Robinet, C ; Lehalle, D ; Bruel, AL ; Masurel-Paulet, A ; Jean, N & al, Eur J Med Genet, 2017
Publications à contenu pédagogique
2020, Logiciel opensource (avec MIT)
* Biomarkers in AR and X-linked ataxias, Mathilde Renaud,pour le livre “Trials for Cerebellar Ataxias: from cellular models to human therapies”, en préparation, publication prévue fin 2022 (Springer Nature, responsable : Pr Alexis Brice)
2022, Chapitre de livre
