M. Denis-Musquer

Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B

D. Baralle, A. Laquérriere, S. Mansour, 2022, Journal of Medical Genetics.

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases

M. Gonzalès, C. Bénéteau, S. Blesson, 2016, Prenatal diagnosis.

Medicopsis romeroi nodular subcutaneous infection in a kidney transplant recipient.

P. Le Pape, R. Lavergne, F. Jeddi, 2020, International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases.

Immune reconstitution inflammatory syndrome presenting as secondary syphilis with polymorphous erythema and knee arthritis

F. Raffi, N. Dupin, P. Grange, 2017, Journal of the European Academy of Dermatology and Venereology : JEADV.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients

J. McGrath, D. Lipsker, S. Küry, 2019, The British journal of dermatology.

Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study

B. Klink, C. Bénéteau, J. Thevenon, 2022, Clinical genetics.

Prospective evaluation of two screening methods for molecular testing of metastatic melanoma: Diagnostic performance of BRAF V600E immunohistochemistry and of a NRAS-BRAF fully automated real-time PCR-based assay

M. Denis, S. Théoleyre, C. Bossard, 2019, PloS one.