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Marie‐Ange Delrue

Observed names: DELRUE, Marie-Ange, Delrue Marie-Ange, Delrue, Marie-Ange, M A Delrue, M-A Delrue, M. Delrue, M.-A Delrue, M.-A. Delrue, M.A. Delrue, M.‐A. Delrue, MA Delrue, Marie-Ange Delrue, M‐A Delrue
Observed institutions: Université de Bordeaux, Inserm, Centre Hospitalier Universitaire Sainte-Justine, Centre Hospitalier Universitaire de Bordeaux, Centre Hospitalier Universitaire de Nantes, Assistance Publique – Hôpitaux de Paris, Hôpital Pellegrin, Centre Hospitalier Universitaire de Liège, Systèmes de Référence Temps-Espace, Hôpital Bichat-Claude-Bernard, Université Paris Diderot, Maladies Rares: Génétique et Métabolisme, Laboratoire Temps Espace, Université Bordeaux Segalen, Université de Montréal
ORCID: 0000-0003-3472-9548
Observed ORCID: 0000-0003-3472-9548
OpenAlex ID: A5008664226
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
2011 · Sébastien Jacquemont, Alexandre Reymond, et al. · Nature · 477
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
2013 · Nicole Revencu, Laurence M. Boon, et al. · Human Mutation · 293
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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
2014 · Claire Redin, Bénédicte Gérard, et al. · Journal of Medical Genetics · 274
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Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders
2009 · David Attias, Chantal Stheneur, et al. · Circulation · 244
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Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
2006 · B Kerr, M-A Delrue, et al. · Journal of Medical Genetics · 236
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Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition
2019 · Gregor Andelfinger, Christopher Marquis, et al. · Journal of the American College of Cardiology · 189
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Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: A Ras/MAPK pathway syndrome
2011 · Angela E. Lin, Mark E. Alexander, et al. · American Journal of Medical Genetics Part A · 139
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The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients
2012 · Camille Leroy, Emilie Landais, et al. · European Journal of Human Genetics · 129
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New insights into genotype–phenotype correlation for GLI3 mutations
2014 · Florence Démurger, Amale Ichkou, et al. · European Journal of Human Genetics · 128
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Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
2002 · I Coupry, C Roudaut, et al. · Journal of Medical Genetics · 127
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Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
2017 · DDD Study, Christel Depienne, et al. · Human Genetics · 115
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Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy
2011 · Gilles Millat, Patrice Bouvagnet, et al. · European Journal of Medical Genetics · 109
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures
2012 · Gaelle Thierry, Claire Bénéteau, et al. · American Journal of Medical Genetics Part A · 108
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
2017 · Marine Legendre, Véronique Abadie, et al. · American Journal of Medical Genetics Part C Seminars in Medical Genetics · 87
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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
2017 · Sarah Boissel, Catherine Fallet-Bianco, et al. · Genetics in Medicine · 83
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Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
2019 · Aia Elise Jønch, Elise Douard, et al. · Journal of Medical Genetics · 81
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Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome
2010 · Delphine Detaint, Philippe Aegerter, et al. · Archives of cardiovascular diseases · 79
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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause
2013 · F. Petit, F. Escande, et al. · Clinical Genetics · 77
Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study
2018 · Sandra Martin-Brevet, Borja Rodríguez-Herreros, et al. · Biological Psychiatry · 73
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Array‐CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum
2010 · Caroline Rooryck, Noui Souakri, et al. · American Journal of Medical Genetics Part A · 67
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
2014 · Eva M. Reinthaler, Dennis Lal, et al. · Human Molecular Genetics · 65
Costello syndrome and neurological abnormalities
2003 · Marie‐Ange Delrue, Jean‐François Chateil, et al. · American Journal of Medical Genetics Part A · 61
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New candidate loci identified by array‐CGH in a cohort of 100 children presenting with syndromic obesity
2014 · Marie‐Laure Vuillaume, Sophie Naudion, et al. · American Journal of Medical Genetics Part A · 57
Towards a new point of view on the phenotype of patients with a 17q12 microdeletion syndrome
2014 · Fanny Laffargue, Sylvie Bourthoumieu, et al. · Archives of Disease in Childhood · 54
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort
2021 · Alexandra Scott, Niccolò Di Giosaffatte, et al. · Genetics in Medicine · 53
Works count: 104
Citation count: 4,396
H-index: 37
I10-index: 60
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