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Orphanet Journal of Rare Diseases|May 23, 2013
Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2Mathieu Milh, Nadia Boutry-Kryza, Julie Sutera-Sardo, et al.
Medrxiv : the Preprint Server for Health Sciences|June 30, 2025
HLA-DQB1*03:01 strongly affects age of onset of type 1 narcolepsy independently of DQA1 and ethnicityLisan Zhang, Shuo Cai, Ashton Teng, et al.
JMIR Medical Informatics|April 10, 2025
Identification of Patients With Congestive Heart Failure From the Electronic Health Records of Two Hospitals: Retrospective StudyDaniel Sumsion, Elijah Davis, Marta Fernandes, et al.
American Journal of Human Genetics|July 5, 2014
Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of lifeJulien Thevenon, Mathieu Milh, François Feillet, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
GM3 synthase deficiency in non-Amish patientsSolveig Heide, Marie-Line Jacquemont, David Cheillan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 21, 2019
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literatureJuliette Piard, Lara Hawkes, Mathieu Milh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2023
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorderKathleen Rooney, Liselot van der Laan, Slavica Trajkova, et al.
International Journal of Obesity (2005)|December 2, 2015
16p11.2 Locus modulates response to satiety before the onset of obesityA M Maillard, L Hippolyte, B Rodriguez-Herreros, et al.
Epilepsia|January 7, 2021
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathyAlexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, et al.
The Journal of Pediatrics|March 13, 2017
Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual DisabilitySolveig Heide, Boris Keren, Thierry Billette de Villemeur, et al.
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