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Frontiers in Pediatrics|September 4, 2023
AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapesQuentin Hennocq, Thomas Bongibault, Sandrine Marlin, et al.
Scientific Reports|January 28, 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndromeQuentin Hennocq, Marjolaine Willems, Jeanne Amiel, et al.
The Journal of Experimental Medicine|September 15, 2023
Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibitionCharles Bayard, Eleonora Segna, Maxime Taverne, et al.
JAMA Pediatrics|July 19, 2016
Best Practices for the Diagnosis and Evaluation of Infants With Robin Sequence: A Clinical Consensus ReportCorstiaan C Breugem, Kelly N Evans, Christian F Poets, et al.
Orphanet Journal of Rare Diseases|March 12, 2025
Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort studyIphigénie Cavadias, Magali Viaud, Marie Falampin, et al.
Nature|April 5, 2019
Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndromeQuitterie Venot, Thomas Blanc, Smail Hadj Rabia, et al.
Nature|June 15, 2018
Targeted therapy in patients with PIK3CA-related overgrowth syndromeQuitterie Venot, Thomas Blanc, Smail Hadj Rabia, et al.
Nature Genetics|February 24, 2009
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequenceSabina Benko, Judy A Fantes, Jeanne Amiel, et al.
American Journal of Human Genetics|March 17, 2015
Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopeciaChristopher T Gordon, K Nicole Weaver, Roseli Maria Zechi-Ceide, et al.
American Journal of Medical Genetics. Part A|April 21, 2022
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patientsDaphné Lehalle, Ange-Line Bruel, Antonio Vitobello, et al.
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