Profil bibliographique

Véronique David

Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.

59Publications signalées

2260Citations signalées

2Affiliations récentes

Institutions déclarées

Institut de génétique et de développement de Rennes Centre Hospitalier Universitaire de Rennes

Domaines associés

Iron Metabolism and DisordersGenomic variations and chromosomal abnormalitiesHedgehog Signaling Pathway StudiesCongenital heart defects researchHemoglobinopathies and Related Disorders

Publications récentes

2022 articleOpenAlex

Scarcity of available information resources for patients and clinicians after a diagnosis of ultra-rare diseases: retrospective on a cohort of 626 individuals with congenital abnormalities and/or intellectual disability

Paul Rollier, Sandrine de Montgolfier, Christèle Dubourg, Wilfrid Carré et autres

0 citationsHAL (Le Centre pour la Communication Scientifique Directe)

2021 articleOpenAlex

Deciphering pharmacogenetic-whole blood/intracellular pharmacokinetic-pharmacodynamic (PG-PK2-PD) relationship of tacrolimus in liver transplant recipients

Camille Tron, Jean‐Baptiste Woillard, Pauline Houssel‐Debry, Véronique David et autres

0 citationsHAL (Le Centre pour la Communication Scientifique Directe)

Accès ouvert 2018 articleOpenAlex

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

Artem Kim, Clara Savary, Christèle Dubourg, Wilfrid Carré et autres

59 citationsBrain

Accès ouvert 2018 articleOpenAlex

A Requirement for Zic2 in the Regulation of Nodal Expression Underlies the Establishment of Left-Sided Identity

Iain M. Dykes, Dorota Szumska, Linta Kuncheria, Rathi Puliyadi et autres

9 citationsScientific Reports

Accès ouvert 2018 otherOpenAlex

Additional file 8: of A de novo variant in ADGRL2 suggests a novel mechanism underlying the previously undescribed association of extreme microcephaly with severely reduced sulcation and rhombencephalosynapsis

Myriam Vézain, Matthieu Lecuyer, M. Gemma Martínez Rubio, Valérie Dupé et autres

0 citationsFigshare

2017 articleOpenAlex

Familial Exome Sequencing to Decipher the Complex Genetic Basis of Holoprosencephaly

Artem Kim, Clara Savary, Christèle Dubourg, Wilfrid Carré et autres

0 citationsWorld Academy of Science, Engineering and Technology, International Journal of Bioengineering and Life Sciences

2016 articleOpenAlex

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing

Charlotte Mouden, Christèle Dubourg, Wilfrid Carré, Sophie Rose et autres

44 citationsClinical Genetics

Accès ouvert 2014 articleOpenAlex

Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions

Christèle Dubourg, Frédérique Bonnet‐Brilhault, Annick Toutain, Cyril Mignot et autres

29 citationsMolecular Syndromology

Accès ouvert 2013 paratextOpenAlex

Contents Vol. 4, 2013

Martin Poot, E. Burgdörfer, M. Korenkov, Dávid Jónás et autres

0 citationsMolecular Syndromology

2011 articleOpenAlex

Histological, Molecular and Immunohistologic Phenotype of IBD Related Colorectal Cancer

Guillaume Bouguen, S. Reggoug, Sébastien Henno, Martine Blayau et autres

0 citationsGastroenterology

2011 articleOpenAlex

5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects

Sylvie Jaillard, Joris Andrieux, Ghislaine Plessis, Ana Cristina Victorino Krepischi et autres

25 citationsAmerican Journal of Medical Genetics Part A

Accès ouvert 2011 articleOpenAlex

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Karine Morcel, Tanguy Watrin, Laurent Pasquier, Lucie Rochard et autres

72 citationsOrphanet Journal of Rare Diseases

Notice OpenAlex

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