A. Molitor

发表

Epidermal maintenance of Langerhans cells relies on autophagy-regulated lipid metabolism

S. Bahram, N. Romani, R. Carapito, 2024, bioRxiv.

Dicer1 deficient mice exhibit premature aging and metabolic perturbations in adipocytes

P. Georgel, S. Bahram, R. Carapito, 2022, iScience.

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis

Zhichao Miao, A. Bloch-Zupan, B. Isidor, 2019, Journal of Human Genetics.

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis

Zhichao Miao, A. Bloch-Zupan, B. Isidor, 2019, Journal of Human Genetics.

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

M. Konantz, C. Lengerke, Zhichao Miao, 2020, The Journal of experimental medicine.

Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort

Daniel M. Lidar, J. Gulcher, J. Casanova, 2021, Science Translational Medicine.

Identification of driver genes for severe forms of COVID-19 in a deeply phenotyped young patient cohort

J. Gulcher, J. Casanova, S. Mayeur, 2021, medRxiv.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

H. Mefford, G. Cooper, N. Paul, 2019, American journal of human genetics.

Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria

J. Casanova, S. Tangye, F. Sallusto, 2023, Science Immunology.

Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant

D. Marx, C. Gachet, S. Bahram, 2021, Molecular genetics & genomic medicine.

Progressive multifocal leukoencephalopathy and sarcoidosis under interleukin 7

L. Kremer, V. Poindron, A. Korganow, 2020, Neurology: Neuroimmunology & Neuroinflammation.

Contrasting role of NLRP12 in autoinflammation: evidence from a case report and mouse models

D. Levy, F. Maurier, P. Georgel, 2021, RMD Open.

A FcɣRIIa polymorphism has a HLA-B57 and HLA-B27 independent effect on HIV disease outcome

O. Lambotte, S. Bahram, R. Carapito, 2020, Genes & Immunity.

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report

Najeeb M. Halabi, P. Froguel, A. Rafii, 2020, BMC medical genetics.

Molecular findings and clinical manifestations of 18 Iranian children with Griscelli syndrome type 2: Two novel homozygote mutations in RAB27A gene in a patient

L. Moradi, M. Houshmand, S. Bahram, 2023, Scandinavian Journal of Immunology.

A Homozygous Missense Variant in PPP1R1B/DARPP‐32 Is Associated With Generalized Complex Dystonia

S. Mayeur, B. Lhermitte, S. Arold, 2021, Movement disorders : official journal of the Movement Disorder Society.

Blood flow diverts extracellular vesicles from endothelial degradative compartments to promote angiogenesis

R. Carapito, O. Lefebvre, N. Asokan, 2022, bioRxiv.

Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor

B. Lhermitte, S. Bahram, R. Carapito, 2023, Cold Spring Harbor molecular case studies.

Clinical, immunological and molecular findings of 8 patients with typical and atypical severe combined immunodeficiency: identification of 7 novel mutations by whole exome sequencing

L. Moradi, B. Grimbacher, S. Bahram, 2023, Genes & Immunity.

Clinical and immunological characteristics of 69 leukocyte adhesion deficiency‐I patients

L. Moradi, A. Kazemnejad, N. Sabetkish, 2023, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.