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NOTCH, a new signaling pathway implicated in holoprosencephaly.

 Valérie Dupé , Lucie Rochard , Sandra Mercier , Yann Le Pétillon , Isabelle Gicquel , et al.
Human Molecular Genetics, 2011, 20 (6), pp.1122-31. ⟨10.1093/hmg/ddq556⟩
Article dans une revue inserm-00554387v1
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Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives

 Silvestre Cuinat , Stéphane Bézieau , Wallid Deb , Sandra Mercier , Virginie Vignard , et al.
Genes & Diseases, 2023, pp.101130. ⟨10.1016/j.gendis.2023.101130⟩
Article dans une revue hal-04264182v1
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A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients

 Aurore Curie , Amandine Brun , Anne Cheylus , Anne Reboul , Tatjana Nazir , et al.
PLoS ONE, 2016, 11 (2), pp.e0149717. ⟨10.1371/journal.pone.0149717⟩
Article dans une revue hal-01281629v1
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RNF170-related hereditary spastic paraplegia: confirmation by a novel mutation

 Jean‐madeleine de Sainte Agathe , Sandra Mercier , Jean‐yves Mahé , Yann Péréon , Julien Buratti , et al.
Movement Disorders, In press, ⟨10.1002/mds.28371⟩
Article dans une revue hal-03059847v1
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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 , Chiann-Mun Chen , et al.
Scientific Reports, 2018, 8 (1), pp.10439. ⟨10.1038/s41598-018-28714-1⟩
Article dans une revue hal-01863217v1

Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.

 Benjamin D. Solomon , Kelly A. Bear , Adrian Wyllie , Amelia A. Keaton , Christele Dubourg , et al.
Journal of Medical Genetics, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩
Article dans une revue inserm-00718148v1
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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.

 Benjamin D. Solomon , Felicitas Lacbawan , Sandra Mercier , Nancy J. Clegg , Mauricio R. Delgado , et al.
Journal of Medical Genetics, 2010, 47 (8), pp.513-24. ⟨10.1136/jmg.2009.073049⟩
Article dans une revue inserm-00439659v1

uORF-creating mutations in Van der Woude syndrome: why it is important to study 5’UTRs

 Magalie Lodin , Julie Galimand , Florence Dastot - Le Moal , Bruno Copin , Sandra Mercier , et al.
European Society of Human Genetics, Jun 2022, Vienne, Austria
Poster de conférence inserm-03922101v1

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

 Lucilla Pizzo , Matthew Jensen , Andrew Polyak , Jill Rosenfeld , Katrin Männik , et al.
Genetics in Medicine, In press, ⟨10.1038/s41436-018-0266-3⟩
Article dans une revue hal-02059381v1

Holoprosencephaly flashcards: A summary for the clinician.

 Benjamin D Solomon , Daniel E Pineda-Alvarez , Sandra Mercier , Manu S Raam , Sylvie Odent , et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.3-7. ⟨10.1002/ajmg.c.30245⟩
Article dans une revue istex inserm-00462060v1

Analysis of genotype-phenotype correlations in human holoprosencephaly.

 Benjamin D. Solomon , Sandra Mercier , Jorge I. Vélez , Daniel Pineda-Alvarez , Adrian Wyllie , et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.133-41. ⟨10.1002/ajmg.c.30240⟩
Article dans une revue inserm-00461997v1
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New insights into genotype-phenotype correlation for GLI3 mutations

 Florence Démurger , Amale Ichkou , Soumaya Mougou-Zerelli , Martine Le Merrer , Géraldine Goudefroye , et al.
European Journal of Human Genetics, 2015, 23 (1), pp.92-102. ⟨10.1038/ejhg.2014.62⟩
Article dans une revue hal-01064583v1
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

 Karim Wahbi , Rabah Ben Yaou , Estelle Gandjbakhch , Frédéric Anselme , Thomas Gossios , et al.
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
Article dans une revue hal-02237297v1

Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

 Sandra Mercier , Sébastien Küry , Sébastien Barbarot , Margaret P , David B Everman , et al.
GeneReviews, pp.1-17, 2016
Chapitre d'ouvrage hal-03831152v1

uORF-creating-mutations in Van der Woude syndrome: why it is important to study 5’UTRs

 Magalie Lodin , Julie Galimand , Florence Dastot - Le Moal , Bruno Copin , Sandra Mercier , et al.
Assises de Génétique, Feb 2022, Rennes (FR), France
Communication dans un congrès inserm-03922478v1

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis

 F. Démurger , L. Pasquier , C. Dubourg , V. Dupé , I. Gicquel , et al.
Molecular Syndromology, 2013, 4 (6), pp.267--272. ⟨10.1159/000353878⟩
Article dans une revue hal-01064054v1
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New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.

 Sandra Mercier , Christèle Dubourg , Nicolas Garcelon , Boris Campillo-Gimenez , Isabelle Gicquel , et al.
Journal of Medical Genetics, 2011, 48 (11), pp.752-60. ⟨10.1136/jmedgenet-2011-100339⟩
Article dans une revue inserm-00626407v1
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Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders

 Kevin Riquin , Bertrand Isidor , Sandra Mercier , Mathilde Nizon , Estelle Colin , et al.
Journal of Medical Genetics, 2024, 61 (1), pp.47-56. ⟨10.1136/jmg-2023-109263⟩
Article dans une revue hal-04191468v1

Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).

 Sandra Mercier , Christèle Dubourg , Marion Belleguic , Laurent Pasquier , Philippe Loget , et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010, 154C (1), pp.191-6. ⟨10.1002/ajmg.c.30246⟩
Article dans une revue istex inserm-00461987v1
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De Novo Truncating Mutations in the kinetochore-microtubules attachment gene CHAMP1 Cause Syndromic Intellectual Disability

 Bertrand Isidor , Sébastien Küry , Jill A. Rosenfeld , Thomas Besnard , Sébastien Schmitt , et al.
Human Mutation, 2016, 37 (4), pp.354-358. ⟨10.1002/humu.22952⟩
Article dans une revue hal-01259225v1
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Clinical utility gene card for: Holoprosencephaly.

 Christèle Dubourg , Véronique David , Andrea Gropman , Sandra Mercier , Maximilian Muenke , et al.
European Journal of Human Genetics, 2011, 19 (1), preceeding 118-20. ⟨10.1038/ejhg.2010.110⟩
Article dans une revue inserm-00511701v1
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Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey

 Mathilde Lefebvre , Damien Sanlaville , Nathalie Marle , Christel Thauvin-Robinet , Élodie Gautier , et al.
Clinical Genetics, 2016, 89 (5), pp.630-635. ⟨10.1111/cge.12696⟩
Article dans une revue hal-01237103v1
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NODAL and SHH dose-dependent double inhibition promotes an HPE-like phenotype in chick embryos.

 Sandra Mercier , Véronique David , Leslie Ratié , Isabelle Gicquel , Sylvie Odent , et al.
Disease Models & Mechanisms, 2013, 6 (2), pp.537-43. ⟨10.1242/dmm.010132⟩
Article dans une revue inserm-00824979v1
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

 Marine Legendre , Véronique Abadie , Tania Attié-Bitach , Nicole Philip , Tiffany Busa , et al.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2017, 175 (4), pp.417 - 430. ⟨10.1002/ajmg.c.31591⟩
Article dans une revue hal-01691932v1
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Quantifying the Effects of 16p11.2 Copy Number Variants on Brain Structure: A Multisite Genetic-First Study

 Sandra Martin , Borja Rodríguez-Herreros , Jared Nielsen , Clara Moreau , Claudia Modenato , et al.
Biological Psychiatry, 2018, 84 (4), pp.253 - 264. ⟨10.1016/j.biopsych.2018.02.1176⟩
Article dans une revue hal-01870357v1

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects

 Annie Laquérriere , Jérome Maluenda , Adrien Camus , Laura Fontenas , Klaus Dieterich , et al.
Human Molecular Genetics, 2014, 23 (9), pp.2279--2289. ⟨10.1093/hmg/ddt618⟩
Article dans une revue hal-01064295v1
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Dissection of the MYCN locus in Feingold Syndrome and isolated esophageal atresia

 Loic de Pontual , Marie Cognet , Agnès Nougayrede , Valérie Malan , Patrick Callier , et al.
European Journal of Human Genetics, 2011, ⟨10.1038/ejhg.2010.225⟩
Article dans une revue hal-00608020v1

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

 Marie Vincent , David Geneviève , Agnès Ostertag , Sandrine Marlin , Didier Lacombe , et al.
Genetics in Medicine, 2016, 18 (1), pp.49-56. ⟨10.1038/gim.2015.29⟩
Article dans une revue hal-01134364v1

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (poiktmp): a case series of 28 patients

 E. Chasseuil , J. Mcgrath , A. Seo , X. Balguerie , N. Bodak , et al.
British Journal of Dermatology, 2019, ⟨10.1111/bjd.17996⟩
Article dans une revue hal-02098832v1
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Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

 Antoine Mangin , Laure de Pontual , Yu-Chih Tsai , Laetitia Monteil , Mathilde Nizon , et al.
International Journal of Molecular Sciences, 2021, 22 (5), pp.2616. ⟨10.3390/ijms22052616⟩
Article dans une revue hal-03173835v1
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