M. Zarhrate

发表

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

F. Rieux-Laucat, A. Fischer, P. Nitschké, 2016, Clinical immunology.

Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation.

F. Rieux-Laucat, A. Fischer, C. Picard, 2011, The Journal of clinical investigation.

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis

A. Griffiths, N. Warner, N. Kapel, 2018, EMBO molecular medicine.

Olmsted syndrome with erythromelalgia caused by recessive transient receptor potential vanilloid 3 mutations

C. Bodemer, S. Duchatelet, P. Nitschké, 2014, The British journal of dermatology.

A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inflammatory syndrome in children with severe myocarditis

F. Rieux-Laucat, A. Fischer, J. Casanova, 2021, bioRxiv.

Pediatric Evans syndrome is associated with a high frequency of potentially damaging variants in immune genes.

F. Rieux-Laucat, A. Fischer, C. Picard, 2019, Blood.

Allelic heterogeneity of SMARD1 at the IGHMBP2 locus

A. Munnich, J. Melki, L. Viollet, 2004, Human mutation.

Allelic Heterogeneity of SMARD1 at the IGHMBP2

A. Munnich, J. Melki, L. Viollet, 2004 .

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals

V. Cormier-Daire, T. Attié-Bitach, C. Huber, 2022, Journal of Medical Genetics.

Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.

R. Salomon, O. Gribouval, F. Silbermann, 2014, American journal of human genetics.

Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthy

Mark M. Davis, J. Casanova, L. Notarangelo, 2021, Cell.

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

S. Lovell, Y. Crow, J. Coxhead, 2019, Science Immunology.

Somatic genetic rescue of a germline ribosome assembly defect

P. Revy, A. Warren, P. Bond, 2021, Nature Communications.

MED23 Mutation Links Intellectual Disability to Dysregulation of Immediate Early Gene Expression

Arnold Munnich, A. Munnich, J. Egly, 2011, Science.

Identification of an Endoglin Variant Associated With HCV-Related Liver Fibrosis Progression by Next-Generation Sequencing

J. Casanova, S. Hanein, D. Semela, 2019, Front. Genet..

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation

F. Del Bene, T. Haaf, R. Maroofian, 2021, American journal of human genetics.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

A. Munnich, K. Bushby, R. Adams, 2002, Annals of neurology.

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure

A. Fischer, G. Almouzni, G. de Saint Basile, 2018, Cell Discovery.

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

S. Lyonnet, S. Kmoch, U. Steuerwald, 2019, Human molecular genetics.

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilization

J. Szustakowski, J. Sahel, T. Bouwmeester, 2015, Nature Communications.

Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response

F. Rieux-Laucat, F. Carbone, M. Frémond, 2023, medRxiv.

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort

S. Hanein, X. Zanlonghi, I. Meunier, 2021, Genes.

A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.

A. Munnich, N. Frydman, A. Rötig, 2023, Human reproduction.

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36

A. Munnich, F. Renault, S. Lefebvre, 2006, Neurology.

Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure

A. Fischer, G. Almouzni, G. de Saint Basile, 2018, Cell Discovery.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

A specific molecular signature in SARS-CoV-2–infected kidney biopsies

C. Zimmer, F. Mueller, M. Pontoglio, 2023, JCI insight.

Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families

A. Munnich, D. Bonneau, L. Viollet, 2004, European Journal of Human Genetics.

DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.

F. Rieux-Laucat, C. Bodemer, C. Picard, 2023, Blood.

Clinical and Translational Article A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inﬂammatory syndrome in children with severe myocarditis

F. Rieux-Laucat, Shen-Ying Zhang, H. Mouquet, 2021 .

Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency

P. Revy, A. Kauskot, D. Moshous, 2024, The Journal of clinical investigation.

Single-cell RNA-sequencing of PBMCs from SAVI patients reveals disease-associated monocytes with elevated integrated stress response

F. Rieux-Laucat, M. Frémond, B. Neven, 2023, Cell reports. Medicine.

Clinical and Translational Article A monocyte/dendritic cell molecular signature of SARS-CoV-2-related multisystem inﬂammatory syndrome in children with severe myocarditis

Shen-Ying Zhang, H. Mouquet, I. Melki, 2022 .