Refined genotype–phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants
Laurence Pacot, Marinus J. Blok, Dominique Vidaud, L. Fertitta et autres
6 citationsJournal of Medical Genetics
Bruno Leheup
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196Publications signalées
8077Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesConnective tissue disorders researchGrowth Hormone and Insulin-like Growth Factors
Publications récentes
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations
Médéric Jeanne, Nathalie Ronce, Solène Remizé, Stéphanie Arpin et autres
2 citationsJournal of Medical Genetics
Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients
Hortense Thomas, Tom Alix, Émeline Renard, Mathilde Renaud et autres
7 citationsJournal of Medical Genetics
Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study
Maëlle Charpié, Perrine Brunelle, Geneviève Baujat, Caroline Michot et autres
7 citationsEuropean Journal of Human Genetics
Patient with a heterozygous pathogenic variant in CSNK2A1 gene: A new case to update the Okur–Chung neurodevelopmental syndrome
A Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth et autres
3 citationsAmerican Journal of Medical Genetics Part A
MAST1-related mega-corpus-callosum syndrome with central hypogonadism
N. Sloboda, Émeline Renard, Laëtitia Lambert, Céline Bonnet et autres
4 citationsEuropean Journal of Medical Genetics
The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS
L Levaillant, N Bouhours-Nouet, F. Illouz, Jager JA et autres
0 citationsYearbook of pediatric endocrinology
Cross‐Talk between miRNAs from the Dlk1‐Dio3 Locus and Histone Methylation to Protect Male Cerebellum from Methyl Donor Deficiency
Jérèmy Willekens, Pauline Mosca, Nathan Burt‐Oberecken, Edgar Laugeais et autres
2 citationsMolecular Nutrition & Food Research
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies
Friederike Petzold, Katy Billot, Xiaoyi Chen, C. Henry et autres
53 citationsKidney International
Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study
Jean‐Marie Ravel, M. Renaud, Jean Muller, Aurélie Becker et autres
29 citationsGenome Medicine
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
AL Soilly, C. Robert-Viard, Céline Besse, AL. Bruel et autres
10 citationsBMC Health Services Research
The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing
Lucie Levaillant, Natacha Bouhours‐Nouet, F. Illouz, Jessica Amsellem Jager et autres
7 citationsThe Journal of Clinical Endocrinology & Metabolism
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