gwenaelle-collod-beroud

Donal Macgrogan, Beatriz Martínez-Poveda, Jean-Pierre Desvignes, Leticia Fernandez-Friera, Manuel José Gomez, et al.. Identification of a peripheral blood gene signature predicting aortic valve calcification. Physiological Genomics, American Physiological Society, 2020, 52 (12), pp.563-574. ⟨10.1152/physiolgenomics.00034.2020⟩. ⟨hal-02965646⟩

Adèle Faucherre, Hamid Moha Ou Maati, Nathalie Nasr, Amélie Pinard, Alexis Theron, et al.. Piezo1 is required for outflow tract and aortic valve development.. Journal of Molecular and Cellular Cardiology, Elsevier, 2020, 143, pp.51-62. ⟨10.1016/j.yjmcc.2020.03.013⟩. ⟨hal-02863713⟩

Amélie Pinard, Nathalie Eudes, Julia Mitchell, Fanny Bajolle, Maude Grelet, et al.. Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect. MOLECULAR BIOLOGY REPORTS, 2018, 45 (5), pp.1507-1513. ⟨10.1007/s11033-018-4212-x⟩. ⟨hal-01991345⟩

Cécile Aerts, Alain Destée, Luc Defebvre, Alexandre Kreisler, François Cassim, et al.. Writing tremor: Should we look for a TOR1A mutation. Journal of the Neurological Sciences, Elsevier, 2017, 382, pp.146 - 147. ⟨10.1016/j.jns.2017.09.048⟩. ⟨hal-01670211⟩

Pauline Arnaud, Nadine Hanna, Mélodie Aubart, Bruno Leheup, Sophie Dupuis-Girod, et al.. Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome. Journal of Medical Genetics, BMJ Publishing Group, 2017, 54 (2), pp.100 - 103. ⟨10.1136/jmedgenet-2016-103996⟩. ⟨hal-01670201⟩

Morgane Miltgen, Arnaud Blanchard, Hélène Mathieu, Alexandre Kreisler, Jean-Pierre Desvignes, et al.. Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia. Movement Disorders, Wiley, 2016, 31 (8), pp.1251-1252. ⟨10.1002/mds.26717⟩. ⟨hal-01670172⟩

Mélodie Aubart, Louise Benarroch, Pauline Arnaud, Gwenaelle Collod-Beroud, Guillaume Jondeau, et al.. Molecular Genetics of the Fibrillinopathies. eLS, John Wiley & Sons, 2016, ⟨10.1002/9780470015902.a0025314⟩. ⟨hal-01682320⟩

Amélie Pinard, Morgane Miltgen, Arnaud Blanchard, Hélène Mathieu, Jean-Pierre Desvignes, et al.. Actionable Genes, Core Databases, and Locus-Specific Databases. Human Mutation, Wiley, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩. ⟨hal-01469071⟩

Amélie Pinard, David Salgado, Jean-Pierre Desvignes, Ghadi Rai, Nadine Hanna, et al.. WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases. Human Mutation, Wiley, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1308-1317. ⟨10.1002/humu.23119⟩. ⟨hal-01457375⟩

Christophe Béroud, Stanley I Letovsky, Corey D Braastad, Sandrine M Caputo, Olivia Beaudoux, et al.. BRCA Share: A Collection of Clinical BRCA Gene Variants. Human Mutation, Wiley, 2016, Next Generation Sequencing and Human Genetic Disease, 37 (12), pp.1318-1328. ⟨10.1002/humu.23113⟩. ⟨hal-01670197⟩

David Salgado, Jean-Pierre Desvignes, Ghadi Rai, Arnaud Blanchard, Morgane Miltgen, et al.. UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution. Human Mutation, Wiley, 2016, 37 (5), pp.439 - 446. ⟨10.1002/humu.22965⟩. ⟨hal-01670164⟩

Mine Arslan-Kirchner, Eloisa Arbustini, Catherine Boileau, Philippe Charron, Anne Child, et al.. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches. European Journal of Human Genetics, Nature Publishing Group, 2015, 24 (1), pp.146 - 150. ⟨10.1038/ejhg.2015.225⟩. ⟨hal-01670149⟩

A. Chandra, D. Patel, A. Aragon-Martin, Amélie Pinard, Gwenaëlle Collod-Béroud, et al.. The revised ghent nosology; reclassifying isolated ectopia lentis. Clinical Genetics, Wiley, 2015, 87 (3), pp.284-287. ⟨10.1111/cge.12358⟩. ⟨hal-01670143⟩

P. Callier, B. Aral, N. Hanna, S. Lambert, H. Dindy, et al.. Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability. Clinical Genetics, Wiley, 2013, 84 (6), pp.507--521. ⟨10.1111/cge.12094⟩. ⟨hal-01068032⟩

G Faivre, Gwenaëlle Collod-Béroud, A Adès, A Arbustini, C Child, et al.. The new Ghent criteria for Marfan syndrome: what do they change?. Clinical Genetics, Wiley, 2012, 81 (5), pp.433 - 442. ⟨10.1111/j.1399-0004.2011.01703.x⟩. ⟨hal-01670114⟩

Virginie Carmignac, Julie Thevenon, Lesley Ades, Bert Callewaert, Sophie Julia, et al.. In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome. American Journal of Human Genetics, Elsevier (Cell Press), 2012, 91 (5), pp.950 - 957. ⟨10.1016/j.ajhg.2012.10.002⟩. ⟨hal-01670135⟩

Chantal Stheneur, Laurence Faivre, Gwenaelle Collod-Beroud, Élodie Gautier, Christine Binquet, et al.. Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year. Pediatric Research, Nature Publishing Group, 2011, 69 (3), pp.265 - 270. ⟨10.1203/PDR.0b013e3182097219⟩. ⟨hal-01670010⟩

Arnaud Blanchard, Vuthy Ea, Agathe Roubertie, Mélanie Martin, Coline Coquart, et al.. DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene: review. Human Mutation, Wiley, 2011, 32 (11), pp.1213 - 1224. ⟨10.1002/humu.21564⟩. ⟨hal-01670069⟩

Céline Gongora, Nadia Vezzio-Vie, Sandie Tuduri, Vincent Denis, Annick Causse, et al.. New Topoisomerase I mutations are associated with resistance to camptothecin.. Molecular Cancer, BioMed Central, 2011, 10 (1), pp.64. ⟨10.1186/1476-4598-10-64⟩. ⟨inserm-00602236⟩

Carine Le Goff, Clementine Mahaut, Lauren W Wang, Slimane Allali, Avinash Abhyankar, et al.. Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias. American Journal of Human Genetics, Elsevier (Cell Press), 2011, 89 (1), pp.7 - 14. ⟨10.1016/j.ajhg.2011.05.012⟩. ⟨hal-01670058⟩

Arnaud Blanchard, Agathe Roubertie, Marion Simonetta-Moreau, Vuthy Ea, Coline Coquart, et al.. Singular DYT6 phenotypes in association with new THAP1 frameshift mutations. Movement Disorders, Wiley, 2011, 26 (9), pp.1775 - 1776. ⟨10.1002/mds.23641⟩. ⟨hal-01670065⟩

Philippe Khau van Kien, David Baux, Nathalie Pallares-Ruiz, Corinne Baudoin, Aurélie Plancke, et al.. Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains. Human Mutation, Wiley, 2010, 31 (1), pp.E1021 - E1042. ⟨10.1002/humu.21131⟩. ⟨hal-01669921⟩

Laura Cif, Xavier Vasques, Victoria Gonzalez, Patrice Ravel, Brigitte Biolsi, et al.. Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study. Movement Disorders, Wiley, 2010, 25 (3), pp.289 - 299. ⟨10.1002/mds.22802⟩. ⟨hal-01669958⟩

Arnaud Blanchard, A. Roubertie, M. Frédéric, M. Claustres, Gwenaëlle Collod-Béroud. Dystonies monogéniques : l’hypothèse dopaminergique revisitée. Revue Neurologique, Elsevier Masson, 2010, 166 (4), pp.389-399. ⟨10.1016/j.neurol.2009.09.007⟩. ⟨hal-01669962⟩

Delphine Detaint, Laurence Faivre, Gwenaelle Collod-Beroud, Anne Child, Bart L Loeys, et al.. Cardiovascular manifestations in men and women carrying a FBN1 mutation. European Heart Journal, Oxford University Press (OUP): Policy B, 2010, 31 (18), pp.2223 - 2229. ⟨10.1093/eurheartj/ehq258⟩. ⟨hal-01669994⟩

M Humbertclaude, G Tuffery-Giraud, C. Bareil, C. Thèze, P Paulet, et al.. Banques de données de mutations : enjeux et perspectives pour les maladies génétiques orphelines. Pathologie Biologie, Elsevier Masson, 2010, 58 (5), pp.387 - 395. ⟨10.1016/j.patbio.2009.09.008⟩. ⟨hal-01670004⟩

Mine Arslan-Kirchner, Eloisa Arbustini, Catherine Boileau, Anne Child, Gwenaelle Collod-Beroud, et al.. Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]. European Journal of Human Genetics, Nature Publishing Group, 2010, 18 (9), ⟨10.1038/ejhg.2010.42⟩. ⟨hal-01669997⟩

Mélissa Yana Frédéric, Fabienne Clot, Arnaud Blanchard, Claire-Marie Dhaenens, Gaetan Lesca, et al.. The p.Asp216His TOR1A allele effect is not found in the French population.. Movement Disorders, Wiley, 2009, 24 (6), pp.919-21. ⟨10.1002/mds.22407⟩. ⟨inserm-00396259⟩

Laurence Faivre, Gwenaëlle Collod-Beroud, Bert Callewaert, Anne Child, Christine Binquet, et al.. Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation.. European Journal of Human Genetics, Nature Publishing Group, 2009, 17 (4), pp.491-501. ⟨10.1038/ejhg.2008.207⟩. ⟨inserm-00343925v2⟩

G Faivre, Gwenaëlle Collod-Béroud, C Callewaert, C Child, L. Loeys, et al.. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. American Journal of Medical Genetics Part A, Wiley, 2009, 149A (5), pp.854 - 860. ⟨10.1002/ajmg.a.32809⟩. ⟨hal-01669908⟩

Melissa Yana Frédéric, Christine Monino, Christoph Marschall, Dalil Hamroun, Laurence Faivre, et al.. The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations.. Human Mutation, Wiley, 2009, 30 (2), pp.181-90. ⟨10.1002/humu.20794⟩. ⟨inserm-00343886⟩

Laurence Faivre, Alice Masurel-Paulet, Gwenaëlle Collod-Béroud, Bert Callewaert, Anne Child, et al.. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations.. Pediatrics, American Academy of Pediatrics, 2009, 123 (1), pp.391-8. ⟨10.1542/peds.2008-0703⟩. ⟨inserm-00396263⟩

David Attias, Chantal Stheneur, Carine Roy, Gwenaëlle Collod-Béroud, Delphine Detaint, et al.. Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders. Circulation, American Heart Association, 2009, 120 (25), pp.2541 - 2549. ⟨10.1161/CIRCULATIONAHA.109.887042⟩. ⟨hal-01669916⟩

François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod-Béroud, Mireille Claustres, et al.. Human Splicing Finder: an online bioinformatics tool to predict splicing signals.. Nucleic Acids Research, Oxford University Press, 2009, 37 (9), pp.e67. ⟨10.1093/nar/gkp215⟩. ⟨inserm-00396239⟩

Mélissa Yana Frédéric, Marine Lalande, Catherine Boileau, Dalil Hamroun, Mireille Claustres, et al.. UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.. Human Mutation, Wiley, 2009, 30 (6), pp.952-9. ⟨10.1002/humu.20970⟩. ⟨inserm-00396237⟩

Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, Jean François Buyck, Laurent Gouya, et al.. Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.. European Journal of Human Genetics, Nature Publishing Group, 2009, 17 (9), pp.1121-8. ⟨10.1038/ejhg.2009.36⟩. ⟨inserm-00396249⟩

Laurence Faivre, Gwenaëlle Collod-Beroud, Anne Child, Bert Callewaert, Bart Loeys, et al.. Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.. Journal of Medical Genetics, BMJ Publishing Group, 2008, 45 (6), pp.384-90. ⟨10.1136/jmg.2007.056382⟩. ⟨inserm-00343946⟩

Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, Laurent Gouya, Gilles Sultan, et al.. Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders.. Human Mutation, Wiley, 2008, 29 (11), pp.E284-95. ⟨10.1002/humu.20871⟩. ⟨inserm-00343940v2⟩

Melissa Yana Frederic, Dalil Hamroun, Laurence Faivre, Catherine Boileau, Guillaume Jondeau, et al.. A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.. Human Mutation, Wiley, 2008, 29 (1), pp.33-8. ⟨10.1002/humu.20602⟩. ⟨inserm-00343980v2⟩

Mélissa Yana Frédéric, Fabienne Clot, Laura Cif, Arnaud Blanchard, Alexandra Dürr, et al.. Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?. neurogenetics, Springer Verlag, 2008, 9 (2), pp.143-50. ⟨10.1007/s10048-008-0123-7⟩. ⟨inserm-00343965⟩

Laurence Faivre, Gwenaëlle Collod-Beroud, Bart Loeys, Anne Child, Christine Binquet, et al.. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.. American Journal of Human Genetics, Elsevier (Cell Press), 2007, 81 (3), pp.454-66. ⟨10.1086/520125⟩. ⟨inserm-00344134⟩

Mélissa Frédéric, Estelle Lucarz, Christine Monino, Céline Saquet, Delphine Thorel, et al.. First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.. Movement Disorders, Wiley, 2007, 22 (6), pp.884-8. ⟨10.1002/mds.21391⟩. ⟨inserm-00143113v2⟩

Peter Robinson, Emilio Arteaga-Solis, Clair Baldock, Gwenaëlle Collod-Béroud, Patrick Booms, et al.. The molecular genetics of Marfan syndrome and related disorders.. Journal of Medical Genetics, BMJ Publishing Group, 2006, 43 (10), pp.769-87. ⟨10.1136/jmg.2005.039669⟩. ⟨inserm-00143572⟩

Christophe Béroud, Dalil Hamroun, Gwenaelle Collod-Beroud, Catherine Boileau, Thierry Soussi, et al.. UMD (Universal Mutation Database): 2005 update. Human Mutation, Wiley, 2005, 26 (3), pp.184 - 191. ⟨10.1002/humu.20210⟩. ⟨hal-01669907⟩

Takeshi Mizuguchi, Gwenaëlle Collod-Beroud, Takushi Akiyama, Marianne Abifadel, Naoki Harada, et al.. Heterozygous TGFBR2 mutations in Marfan syndrome.. Nature Genetics, Nature Publishing Group, 2004, 36 (8), pp.855-60. ⟨10.1038/ng1392⟩. ⟨inserm-00143367v2⟩

Gwenaëlle Collod-Béroud, Saga Le Bourdelles, Lesley Ades, Leena Ala-Kokko, Patrick Booms, et al.. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.. Human Mutation, Wiley, 2003, 22 (3), pp.199-208. ⟨10.1002/humu.10249⟩. ⟨inserm-00143263v2⟩

Laurence Faivre, J. Gorlin, M. Wirtz, Maurice Godfrey, N. Dagoneau, et al.. In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. Journal of Medical Genetics, BMJ Publishing Group, 2003, 40 (1), pp.34-6. ⟨inserm-00143439⟩

Gwenaëlle Collod-Béroud, Catherine Boileau. Marfan syndrome in the third Millennium. European Journal of Human Genetics, Nature Publishing Group, 2002, 10 (11), pp.673 - 681. ⟨10.1038/sj.ejhg.5200876⟩. ⟨hal-01669348⟩

Gwenaëlle Collod-Béroud, Catherine Boileau. Marfan syndrome in the third Millennium.. European Journal of Human Genetics, Nature Publishing Group, 2002, 10 (11), pp.673-81. ⟨10.1038/sj.ejhg.5200876⟩. ⟨inserm-00143603v2⟩

Christophe Béroud, Gwenaëlle Collod-Béroud, Catherine Boileau, Thierry Soussi, Claudine Junien. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases.. Human Mutation, Wiley, 2000, 15 (1), pp.86-94. ⟨10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO;2-4⟩. ⟨inserm-00143606⟩

Gwenaëlle Collod-Béroud, Marilyn Lackmy-Port-Lys, Guillaume Jondeau, Michèle Mathieu, Yves Maingourd, et al.. Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.. American Journal of Human Genetics, Elsevier (Cell Press), 1999, 65 (3), pp.917-21. ⟨inserm-00143425⟩

Gwenaëlle Collod-Béroud, Christophe Béroud, Lesley Ades, Cheryl Black, Maureen Boxer, et al.. Marfan Database (third edition): new mutations and new routines for the software.. Nucleic Acids Research, Oxford University Press, 1998, 26 (1), pp.229-3. ⟨inserm-00143200⟩

Catherine Boileau, Gwenaelle Collod, Damien Bonnet. [Contribution of genetics to pathogenicity and diagnosis of Marfan syndrome]. Archives des Maladies du Coeur et des Vaisseaux, J B Bailliere et Fils, 1997, 90 (12 Suppl), pp.1707-12. ⟨inserm-00143615⟩

C Boileau, Gwenaëlle Collod-Béroud, D Bonnet. Apport de la génétique à la pathogénie et au diagnostic de la maladie de Marfan. Archives des Maladies du Coeur et des Vaisseaux, J B Bailliere et Fils, 1997, pp.1707-1712. ⟨hal-01662945v2⟩

Gwenaëlle Collod-Béroud, Christophe Béroud, Lesley Adès, Cheryl Black, Maureen Boxer, et al.. Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.. Nucleic Acids Research, Oxford University Press, 1997, 25 (1), pp.147-50. ⟨inserm-00143175⟩

Mathilde Varret, Jean-Pierre Rabès, Gwenaëlle Collod-Béroud, Claudine Junien, Catherine Boileau, et al.. Software and database for the analysis of mutations in the human LDL receptor gene.. Nucleic Acids Research, Oxford University Press, 1997, 25 (1), pp.172-80. ⟨inserm-00143593⟩

Gwenaëlle Collod-Beroud, Catherine Boileau. Fibrillines et fibrillinopathies. médecine/sciences, EDP Sciences, 1996, 12 (10), pp.1077-1086. ⟨inserm-00344117v2⟩

Gwenaëlle Collod, Mon-Li Chu, Takako Sasaki, Monique Coulon, Ruppert Timpl, et al.. Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2.. European Journal of Human Genetics, Nature Publishing Group, 1996, 4 (5), pp.292-5. ⟨inserm-00143563⟩

Gwenaelle Collod, Christophe Béroud, Thierry Soussi, Claudine Junien, Catherine Boileau. Software and database for the analysis of mutations in the human FBN1 gene. Nucleic Acids Research, Oxford University Press, 1996, 24 (1), pp.137-140. ⟨10.1093/nar/24.1.137⟩. ⟨hal-01662876⟩

Catherine Boileau, Claudine Junien, Gwenaelle Collod, Guillaume Jondeau, Olivier Dubourg, et al.. Reply to “The question of heterogeneity in Marfan syndrome”. Nature Genetics, Nature Publishing Group, 1995, 9 (3), pp.230-231. ⟨10.1038/ng0395-230⟩. ⟨hal-01662707⟩

Catherine Boileau, Claudine Junien, Gwenaëlle Collod, Guillaume Jondeau, Olivier Dubourg, et al.. Reply to "The question of heterogeneity in Marfan syndrome". Nature Genetics, Nature Publishing Group, 1995, 9 (3), pp.230-231. ⟨10.1038/ng0395-230⟩. ⟨inserm-00348103⟩

Gwenaëlle Collod, Marie-Claude Babron, Guillaume Jondeau, Monique Coulon, Jean Weissenbach, et al.. A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.. Nature Genetics, Nature Publishing Group, 1994, 8 (3), pp.264-8. ⟨10.1038/ng1194-264⟩. ⟨inserm-00143129⟩

Gwenaelle Collod, Marie-Claude Babron, Guillaume Jondeau, Monique Coulon, Jean Weissenbach, et al.. A second locus for Marfan syndrome maps to chromosome 3p24.2–p25. Nature Genetics, Nature Publishing Group, 1994, 8 (3), pp.264-268. ⟨10.1038/ng1194-264⟩. ⟨hal-01662693⟩

Nathalie Loux, Bruno Saint-Jore, Gwenaelle Collod, Pascale Benlian, Jean-Pierre Cambou, et al.. Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.. Hum Mutat, 1993, 2 (2), pp.145-7. ⟨10.1002/humu.1380020216⟩. ⟨inserm-00143533⟩

Gwenaëlle Collod-Beroud, Catherine Boileau. Marfan and Related Fibrillinopathies. Jürgen Fuchs and Maurizio Podda. Marcel Dekker, 6, pp.761-765, 2004. ⟨inserm-00343984v2⟩

François-Olivier Desmet, Dalil Hamroun, Gwenaëlle Collod-Béroud, Mireille Claustres, Christophe Béroud. Bioinformatics identification of splice site signals and prediction of mutation effects. RM Mohan. Research Advances In Nucleic Acids Research, Global Research Network Publishers, pp.1-14, 2010. ⟨hal-01671042⟩

Melissa Yana Frédéric, Sylvie Tuffery-Giraud, Gwenaëlle Collod-Beroud. Primary dystonia: In search of new genes.... Pr Mireille Claustres. Molecular Genetic Analysis of Rare Diseases in 2007: Selected examples, S.G. Pandalai and A. Gayathri, pp.59-77, 2007. ⟨inserm-00343976⟩

Gwenaëlle Collod-Beroud, Catherine Boileau, Peter Robinson, Maurice Godfrey. Chapter 8: The Marfan Mutation Database. Peter Robinson and Maurice Godfrey. Marfan Syndrome: A Primer for Clinicians and Scientists, Eurekah.com and Luwer Academic/Plenum Publishers, pp.1-11, 2004. ⟨inserm-00343985v2⟩

Gwenaëlle Collod-Beroud, Catherine Boileau. An Update on the Marfan Syndrome and its Pathological Aspects at the protein and Molecular Level. S.G. Pandalai. Recent Research Developments in Human Genetics, Vol 1, Research Signpost, pp.23-34, 2002. ⟨inserm-00343987v2⟩

Adèle Faucherre, Hamid Moha Ou Maati, Nathalie Nasr, Amélie Pinard, Alexis Theron, et al.. Piezo1 is required for outflow tract and aortic valve development. 2019. ⟨hal-02404255⟩