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Nature Genetics|February 28, 2012
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndromeJeroen K J Van Houdt, Beata Anna Nowakowska, Sérgio B Sousa, et al.Clinical Genetics|March 20, 2013
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disabilityP Callier, B Aral, N Hanna, et al.Journal of Medical Genetics|August 4, 2025
Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variantsLaurence Pacot, Marinus Blok, Dominique Vidaud, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 3, 2017
Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testingPaul Kuentz, Judith St-Onge, Yannis Duffourd, et al.Clinical Genetics|August 14, 2023
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendationsLaurence Faivre, Jean-Charles Crépin, Manon Réda, et al.Oncotarget|May 7, 2015
A simplified interventional mapping system (SIMS) for the selection of combinations of targeted treatments in non-small cell lung cancerVladimir Lazar, Eitan Rubin, Stephane Depil, et al.Journal of Medical Genetics|April 12, 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disabilityMartin Chevarin, Yannis Duffourd, Rebecca A Barnard, et al.Clinical Genetics|November 20, 2015
Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national surveyM Lefebvre, D Sanlaville, N Marle, et al.Journal of Medical Genetics|March 30, 2019
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disordersCaroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, et al.Blood|August 24, 2022
Genomic profiling for clinical decision making in lymphoid neoplasmsLaurence de Leval, Ash A Alizadeh, P Leif Bergsagel, et al.Pageof 182