Lyonnet, Stanislas

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

Bastard, P., Rosen, L. B., Zhang, Q., Michailidis, E., Hoffmann, H.-H., Zhang, Y., Dorgham, K., Philippot, Q., Rosain, J., Béziat, V., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,662

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

Zhang, Q., Bastard, P., Liu, Z., Le Pen, J., Moncada-Velez, M., Chen, J., Ogishi, M., Sabli, I. K. D., Hodeib, S., Korol, C., et al. (2020) · Science

interferon and immune responsesSARS-CoV-2 and COVID-19 Research

Cited by 2,229

Genotype-phenotype correlations in down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21

Lyle, R., Béna, F., Gagos, S., Gehrig, C., Lopez, G., Schinzel, A., Lespinasse, J., Bottani, A., Dahoun, S., Taine, L., et al. (2009) · European Journal of Human Genetics

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 331

Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

Amiel, J., Rio, M., Pontual, L. D., Redon, R., Malan, V., Boddaert, N., Plouin, P., Carter, N. P., Lyonnet, S., Munnich, A., et al. (2007) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 319

Mutant WD-repeat protein in triple-A syndrome

Tullio-Pelet, A., Salomon, R., Hadj-Rabia, S., Mugnier, C., de Laet, M.-H., Chaouachi, B., Bakiri, F., Brottier, P., Cattolico, L., Penet, C., et al. (2000) · Nature Genetics

Adrenal Hormones and DisordersGenomics and Rare Diseases

Cited by 312

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

Cluzeau, C., Hadj-Rabia, S., Jambou, M., Mansour, S., Guigue, P., Masmoudi, S., Bal, E., Chassaing, N., Vincent, M.-C., Viot, G., et al. (2011) · Human Mutation

dental development and anomaliesGenetic and rare skin diseases.

Cited by 311

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

Jacquemont, M.-L., Sanlaville, D., Redon, R., Raoul, O., Cormier-Daire, V, Lyonnet, S., Amiel, J., Le Merrer, M., Heron, D., de Blois, M.-C., et al. (2006) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 305

Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors

Castanet, M., Polak, M., Bonaïti-Pellié, C., Lyonnet, S., Czernichow, P., & Léger, J. (2001) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsHead and Neck Anomalies

Cited by 240

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Golzio, C., Martinovic-Bouriel, J., Thomas, S., Mougou-Zrelli, S., Grattagliano-Bessières, B., Bonnière, M., Delahaye, S., Munnich, A., Encha-Razavi, F., Lyonnet, S., et al. (2007) · The American Journal of Human Genetics

Retinoids in leukemia and cellular processesRetinal Development and Disorders

Cited by 198

FDXR mutations cause sensorial neuropathies and expand the spectrum of mitochondrial Fe-S-synthesis diseases

Paul, A., Drecourt, A., Petit, F., Deguine, D. D., Vasnier, C., Oufadem, M., Masson, C., Bonnet, C., Masmoudi, S., Mosnier, I., et al. (2017) · The American Journal of Human Genetics

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 95

Anatomical and functional abnormalities on MRI in kabuki syndrome

Boisgontier, J., Tacchella, J. M., Lemaître, H., Lehman, N., Saitovitch, A., Gatinois, V., Boursier, G., Sanchez, E., Rechtman, E., Fillon, L., et al. (2019) · NeuroImage: Clinical

Genetics and Neurodevelopmental DisordersFetal and Pediatric Neurological Disorders

Cited by 29

Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype

Dudoignon, B., Huber, C., Michot, C., Di Rocco, F., Girard, M., Lyonnet, S., Rio, M., Rabia, S. H., Daire, V. C., & Baujat, G. (2020) · American Journal of Medical Genetics Part A

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 27

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

Dufour, W., Alawbathani, S., Jourdain, A.-S., Asif, M., Baujat, G., Becker, C., Budde, B., Gallacher, L., Georgomanolis, T., Ghoumid, J., et al. (2022) · Genetics in Medicine

Congenital limb and hand anomaliesdental development and anomalies

Cited by 14