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American Journal of Medical Genetics. Part A|March 26, 2014
Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletionDaphné Lehalle, Damien Sanlaville, Anne Guimier, et al.
European Journal of Human Genetics : EJHG|April 7, 2022
16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencingRomain Nicolle, Karine Siquier-Pernet, Marlène Rio, et al.
American Journal of Medical Genetics. Part A|April 21, 2019
A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosisAnne Guimier, Christopher T Gordon, Marie Hully, et al.
American Journal of Medical Genetics. Part A|May 11, 2017
Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletionCarolyn C Jackson, Alain Lefèvre-Utile, Anne Guimier, et al.
Life (Basel, Switzerland)|February 25, 2023
Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of CardiomyopathyCérane Cafournet, Sofia Zanin, Anne Guimier, et al.
Clinical Genetics|April 2, 2020
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variantsEmmanuelle Ranza, Anne Guimier, Alain Verloes, et al.
Pediatric Blood & Cancer|September 17, 2015
Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion MutationsSolveig Heide, Julien Masliah-Planchon, Bertrand Isidor, et al.
American Journal of Medical Genetics. Part A|October 22, 2022
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresiaEmmanuelle Ranza, Morgane Le Gouez, Anne Guimier, et al.
Plos One|July 12, 2014
Clinical characteristics and outcome of patients with neuroblastoma presenting genomic amplification of loci other than MYCNAnne Guimier, Sandrine Ferrand, Gaëlle Pierron, et al.
JHEP Reports : Innovation in Hepatology|April 22, 2026
Molecular evolution of mosaic chromosome 18 copy-number alterations from gametes to hepatoblastomaElise Cendres, Marianna Cornet, Zoé Gautier, et al.
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