Publications by authors named "Marie Denis-Musquer"

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Hirschsprung Disease on Fetal Autopsy Leading to the Diagnosis of Congenital Central Hypoventilation Syndrome in a Stillborn Fetus.
Julie Baron, Madeleine Joubert, Marie Denis-Musquer, Louise Galmiche-Rolland, Anne-Sophie Riteau

Clin Genet· November 2025

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Overlapping cortical malformations in patients with pathogenic variants in and .
Stefanie Brock, Annie Laquerriere, Florent Marguet, Scott J Myers, Yuan Hongjie, Marie Denis-Musquer

J Med Genet· February 2023

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Understanding the new BRD4-related syndrome: Clinical and genomic delineation with an international cohort study.
Guillaume Jouret, Solveig Heide, Arthur Sorlin, Laurence Faivre, Sandra Chantot-Bastaraud, Marie Denis-Musquer

Clin Genet· August 2022

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The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.
Leïla Ghesh, Marie Denis Musquer, Louise Devisme, Morgane Stichelbout, Lucile Boutaud

Clin Genet· October 2021

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High-Density of FcγRIIIA (CD16) Tumor-Associated Neutrophils in Metastases Improves the Therapeutic Response of Cetuximab in Metastatic Colorectal Cancer Patients, Independently of the HLA-E/CD94-NKG2A Axis.
Marie Denis Musquer, Nicolas Jouand, Morgane Pere, Juliette Eugène Lamer, Stéphane Bézieau

Front Oncol· June 2021

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Medicopsis romeroi nodular subcutaneous infection in a kidney transplant recipient.
Fakhri Jeddi, Charlotte Paugam, Sophie Hartuis, Marie Denis-Musquer, Marcela Sabou

Int J Infect Dis· June 2020

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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.
Audrey Vallée, Marie Denis-Musquer, Guillaume Herbreteau, Sandrine Théoleyre, Céline Bossard

PLoS One· March 2020

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Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
Louise Muguet Guenot, Helene Aubert, Bertrand Isidor, Annick Toutain, Juliette Mazereeuw-Hautier

Pediatr Dermatol· March 2019

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Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Justyna A Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Marie Denis-Musquer

Am J Hum Genet· February 2019

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