Virginie Carmignac
Inserm(FR)Université de Bourgogne(FR)
Publications by Year
Research Areas
Genetic and rare skin diseases., Genetic Syndromes and Imprinting, Muscle Physiology and Disorders, Vascular Malformations and Hemangiomas, RNA regulation and disease
Most-Cited Works
- → C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy(2007)247 cited
- → PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy(2013)202 cited
- → Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis(2017)197 cited
- → Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band – implications for hereditary myopathies(2008)193 cited
- → Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing(2017)136 cited
- → Autophagy is increased in laminin α2 chain-deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A(2011)118 cited
- → Sirolimus (Rapamycin) for Slow-Flow Malformations in Children(2021)115 cited
- → In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome(2012)110 cited
- → 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech(2012)106 cited
- → The placenta: phenotypic and epigenetic modifications induced by Assisted Reproductive Technologies throughout pregnancy(2015)99 cited