Kraoua L, Louati A, Ben Ahmed S, Abida N, Khemiri M, Menid K, Mrad R, Zaffran Sß, Jaouadi Hß. Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dDilated cardiomyopathy. Mol Genet Genomic Med. 2024 accepté. ßCo-Senior authors

Ribeiro da Silva A, Gunawan F, Boezio G, Faure E, Théron A, Avierinos JF, Lim S, Govind Jha S, Ramadass R, Guenther S, Looso M, Zaffran S, Juan Tß, Stainier Dß. egr3 is a mechanosensitive transcription factor gene required for cardiac valve morphogenesis. Sci Adv. 2024 May 17;10(20):eadl0633. ßCo-Senior authors

Avierinos JF, Tribouilloy C, Bursi F, Grigioni F, Resseguier N, Vanoverschelde JL, Théron A, Pasquet A, Pradier J, Biagini E, Barbieri A, Michelena H, Benfari G, Rusinaru D, Zaffran S, Vancraeynest D, Collart F, Bohbot Y, Essayagh B, Enriquez-Sarano M. Degenerative mitral regurgitation due to flail leaflet: sex-related differences in presentation, management, and outcomes. Eur Heart J. 2024 May 16:ehae265.

Argiro L*, Chevalier C*, Choquet C*, Nandkishore N, Ghata A, Baudot A, Zaffran Sß, Lescroart Fß. Cardiopharyngeal Mesoderm specification into cardiac and skeletal muscle lineages in gastruloids. BioRxiv. 2023. ßCo-Senior authors


Argiro L*, Chevalier C*, Choquet C*, Nandkishore N, Ghata A, Baudot A, Zaffran Sß, Lescroart Fß. Cardiopharyngeal Mesoderm specification into cardiac and skeletal muscle lineages in gastruloids. BioRxiv. 2023. ßCo-Senior authors

Bernheim S, Borgel A, Le Garrec JF, Perthame E, Desgrange A, Michel C, Guillemot L, Sart S, Baroud CN, Krezel W, Raimondi F, Bonnet D, Zaffran S, Houyel L, Meilhac S. Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells. Dev Cell. 2023 Oct 13:S1534-5807(23)00493-8.

Wanert C, El Louali F, Al Dybiat S, Nguyen K, Zaffran S, Ovaert C. Genetic profile and genotype-phenotype correlations in childhood cardiomyopathy. Arch Cardiovasc Dis. 2023 Jun-Jul;116(6-7):309-315.

Odelin G*, Faucherre A*, Marchese D*, Pinard A, Jaouadi G, Le Scouarnec S, FranceGenRef Consortium, Chiarelli R, Achouri Y, Faure E, Herbane M, Théron A, Avierinos JF, Jopling C, Collod-Béroud G, Rezsohazy R, Zaffran S. Variations in the poly-histidine repeat motif of HOXA1 contribute to bicuspid aortic valve in mouse and zebrafish. Nat Commun. 2023 14:1543.

Petolat E, Theron A, Resseguier N, Fabre C, Norscini G, Badaoui R, Habib G, Collart F, Zaffran S, Porto A, Avierinos JF. Prognostic value of forward flow indices in primary mitral regurgitation due to mitral valve prolapse. Front Cardiovasc Med. 2023 Feb 23;10:1076708.

Jaouadi H, Jopling C, Bajolle F, Théron A, Faucherre A, Gerard H, Al Dybiat S, Ovaert C, Bonnet D, Avierinos JF, Zaffran S. Expanding the phenome and variome of the ROBO-SLIT pathway in Congenital Heart Defects: Toward improving the genetic testing yield of CHD. J Transl Med. 2023 Feb 28;21(1):160

Zaffran S, Kraoua L, Jaouadi H. Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy. Int J Mol Sci. 2023 24(4):3365.

Jaouadi H, Théron A, Norscini G, Avierinos JF, Zaffran S. The genetic and phenotypic continuum of HOXA genes: A case with double HOXA9/HOXA13 mutations. Mol Med Rep. 2023 Mar;27(3):59.

Lesieur E, Zaffran S, Chaoui R, Quarello E. Prenatal screening and diagnosis of pulmonary artery anomalies: a review. Ultrasound Obstet Gynecol. 2023 61: 445-457.


Jaouadi H, Theron A, Hourdain J, Martel H, Nguyen K, Habachi R, Deharo JC, Collart F, Avierinos JF, Zaffran S. SCN5A Variants as genetic arrhythmias triggers for familial bileaflet Mitral Valve Prolapse. Int J Mol Sci. 2022 23(22):14447.

Lin X, Swedlund B, Ton MN, Ghazanfar S, Guibentif C, Paulissen C, Baudelet E, Plaindoux E, Achouri Y, Calonne E, Dubois C, Mansfield W, Zaffran S, Marioni JC, Fuks F, Göttgens B, Lescroart F, Blanpain C. Mesp1 controls the chromatin and enhancer landscapes essential for spatiotemporal patterning of early cardiovascular progenitors. Nat Cell Biol. 2022 Jul;24(7):1114-1128.

Jaouadi H, El Louali F, Wanert C, Cano A, Ovaert C, Zaffran S. Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with SPEG Compound Heterozygous Variants. Int J Mol Sci. 2022 May 6;23(9):5205.

Kraoua L, Jaouadi H, Allouche M, Achour A, Kaouther H, Ben Ahmed H, Chaker L, Maazoul F, Ouarda F, Zaffran S*, Ridha M'rad R. Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome. Mol Genet Genom Med. 2022 Jul;10(7):e1954.

Jaouadi H*, Gerard H*, Theron A, Collod-Beroud G, Collard F, Avierinos JF, Zaffran S. Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease. J Hum Genet. 2022 Sep;67(9):515-518.

Lescroart F, Zaffran S. Single cell approaches to understand the earliest steps in heart development. Current Cardiol Reports. 2022 Jun;24(6):611-621.

Jaouadi H, Chabrak S, Lahbib S, Abdelhak S, Zaffran S. Identification of two novel variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting a new candidate disease gene and digenic inheritance. Clin Case Rep. 2022 Feb 20;10(2):e05339.


Khasawneh RR, Kist R, Queen R, Hussain R, Coxhead J, Schneider JE, Mohun T, Zaffran S, Peters H, Phillips HM, Bamforth SD. Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype. BMC Dev Biol. 2021 Oct 6;21(1):14.

Haniffa M, Taylor D, Linnarsson S, Aronow BJ, Bader GD, Barker RA, Camara PG, Camp JG, Chédotal A, Copp A, Etchevers HC, et al. A roadmap for the Human Developmental Cell Atlas. Nature. 2021 Sep;597(7875):196-205.

Theron A, Touil A, Resseguier N, Collod-Béroud G, Norscini G, Simoni AS, Odelin G, Habib G, Collart F, Zaffran Sß, Avierinos JFß. Clinical insights into a tertiary care center cohort of patients with bicuspid aortic valve. Int J Cardiovasc Imaging. 2021 Aug 10. doi: 10.1007/s10554-021-02366-1.ßCo-Senior authors

Stefanovic S, Etchevers HC, Zaffran S. Outflow tract formation - Embryonic origins of conotruncal congenital heart disease. J Cardiovasc Dev Dis. 2021 Apr 9;8(4):42.

Faure E, Bernard E, Gasté A, Plaindoux E, Deplano V, Zaffran S. Side-dependent effect in the response of valve endothelial cells to bidirectional shear stress. Int J Cardiol. 2021 Jan 15;323:220-228.


MacGrogan D, Martínez-Poveda B, Desvignes JP, Fernandez-Friera L, Gomez MJ, Vilariño EG, Callejas Alejano S, García-Pavía P, Solis J, Lucena J, Salgado D, Collod-Béroud G, Faure E, Théron A, Torrents J, Avierinos JF, Montes L, Dopazo A, Fuster V, Ibáñez B, Sánchez-Cabo F, Zaffran S, de la Pompa JL. Identification of a peripheral blood gene signature predicting aortic valve calcification. Physiol Genomics. 2020 Dec 1;52(12):563-574.

Stefanovic S*, Laforest B*, Desvignes JP, Lescroart F, Argiro L, Maurel-Zaffran C, Salgado D, Plaindoux E, De Bono C, Pazur K, Théveniau-Ruissy M, Béroud C, Puceat M, Gavalas A, Kelly RG, Zaffran S. Hox-dependent coordination of mouse cardiac progenitor cell patterning and differentiation. eLife. 2020 Aug 17;9:e55124. doi: 10.7554/eLife.55124.

Calbet-Llopart N, Pascini-Garrigos M, Tell-Martí G, Potrony M, da Silva VM, Barreiro A, Puig S, Captier G, James I, Degardin N, Carrera C, Malvehy J, Etchevers HC, Puig-Butillé JA. Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi. Pigment Cell Melanoma Res. 2020 Sep;33(5):685-694.

Faucherre A, Maati HMO, Nasr N, Pinard A, Theron A, Odelin G, Desvignes JP, Salgado D, Collod-Béroud G, Avierinos JF, Lebon G, Zaffran Sß, Jopling Cß. Piezo1 is required for outflow tract and aortic valve development. J Mol Cell Cardiol. 2020 Apr 3;143:51-62.ßCo-Senior authors

Jaouadi H, Bouyacoub Y, Chabrak S, Kraoua L, Zaroui A, Elouej S, Nagara M, Dallali H, Delague V, Levy N, Benkhalifa R, Mechmeche R, Zaffran S, Abdelhak S. Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young. Herz. 2020 Jan 22


Almutairi B, Charlet J, Dallosso AR, Szemes M, Etchevers HC, Malik KT, Brown KW. Epigenetic deregulation of GATA3 in neuroblastoma is associated with increased GATA3 protein expression and with p outcomes. Sci Rep. 2019, 9 (1), 18934.

Odelin G, Faure E, Maurel-Zaffran C, Zaffran S. Krox20 regulates endothelial nitric oxide signaling in aortic valve development and disease. J Cardiovasc Dev Dis. 2019, 6(4), 39.

Jaouadi H, Chehica A, Kraoua L, Etchevers HC, Argiro L, Kasdallah N, Blibech S, Delague V, Levy N, Tebib N, Mrad R, Abdelhak S, Benkhalifa R, Zaffran S. A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation. Genet Res. 2019 Apr 29;101:e6.

van Eif V*, Stefanovic S*, van Duijvenboden K, Bakker M, Wakker V, de Gier-de Vries C, Zaffran S, Verkerk A, Boukens B, Christoffels V.Transcriptome analysis of mouse and human sinoatrial node cells reveals a conserved genetic core program. Development. 2019 Apr 25;146(8). pii: dev173161.

Neri T*, Hiriart E*, van Vliet P, Faure E, Norris R, Fahrat B, Jagla B, Lefrancois J, Moore-Morris T, Zaffran S, Faustino R, Zambon A, Sugi Y, Desvignes JP, Salgado D, Levine R, de la Pompa JL, Terzic A, Evans S, Markwald R, Pucéat M. Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis. Nat Commun. 2019 Apr 26;10(1):1929.

Rochais F, Kelly R, Zaffran S. Développement et Régénération Cardiaque. Biologie et pathologie du coeur et des vaisseaux 3ème Edition. Ed. Société Française de Cardiologie. John Libbey Eurotext Publisher. 2019, pp3-12.

Etchevers HC, Dupin E, Le Douarin NM. The diverse neural crest: from embryology to human pathology. Development. 2019 Mar 11;146(5). pii: dev169821.

Fultang L, Gamble LD, Gneo L, Berry AM, Egan SA, De Bie F, Yogev O, Eden GL, Booth S, Brownhill S, Vardon A, McConville CM, Cheng PN, Norris MD, Etchevers HC, Murray J, Ziegler DS, Chesler L, Schmidt R, Burchill SA, Haber M, De Santo C, Mussai F. Macrophage-Derived IL1beta and TNFalpha Regulate Arginine Metabolism in Neuroblastoma. Cancer Res. 2019 Feb 1;79(3):611-624.


Lescroart F, Zaffran S. Hox and Tale transcription factors in heart development and disease. Int J Dev Biol. 2018;62:837-846.

Zaffran, S, Odelin G, Stefanovic S, Lescroart F, Etchevers HC. Ectopic expression of Hoxb1 induces cardiac and craniofacial malformations. Genesis. 2018;56(6-7):e23221.

Jaouadi H, Kraoua L, Chaker L, Atkinson A, Delague V, Levy N, Benkhalifa R, Mrad R, Abdelhak S, Zaffran S. Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features. J Hum Genet. 2018;63(10):1077-1082.

De Bono C, Thellier C, Bertrand N, Sturny R, Jullian E, Cortes C, Stefanovic S, Zaffran S, Theveniau-Ruissy M, Robert G. Kelly. T-box genes and retinoic acid signaling regulate the segregation of arterial and venous pole progenitor cells in the murine second heart field. Hum Mol Genet. 2018;27(21):3747-3760.

Pinard A, Eudes N, Mitchell J, Bajolle F, Grelet M, Okoronkwo J, Bonnet D, Collod-Béroud G, Zaffran S. Analysis of HOXB1 gene in a cohort of patients with sporadic ventricular septal defect. Mol Biol Rep. 2018;45(5):1507-1513.

Zaffran S. Cardiac growth: Cardiomyocyte polarisation. In The ESC Textbook of cardiovascular development. Editors: JM. Perez-Pomares, R. Kelly, 2018, pp. 86-93. Oxford University Press, Oxford.

Papoutsi T, Prados B, Luna-Zurita L, Zaffran S, de la Pompa JL. Bmp2 and Notch cooperate to pattern the embryonic endocardium. Development. 2018;145(13). pii: dev163378.

Prados B, Gomez-Apinaniz P, Papoutsi T, Luxan G, Zaffran S, Perez-Pomares JM, de la Pompa JL. Myocardial Bmp2 gain causes ectopic EMT and promotes cardiomyocyte proliferation and immaturity. Cell Death Dis. 2018;9(3):399.

Métais A, Lamsoul I, Melet A, Uttenweiler-Joseph S, Poincloux R, Stefanovic S, Valière A,Gonzalez de Peredo A, Stella A, Burlet-Schiltz O, Zaffran S, Lutz P.G, Moog-Lutz C. The Asb2α-Filamin A Axis Is Essential for Actin Cytoskeleton Remodeling during Heart Development. Circ Res. 2018;122:e34-e48.

Etchevers HC, Rose C, Kahle B, Vorbringer H, Fina F, Heux P, Berger I, Schwarz B, Zaffran S, Macagno N, Krengel S. Giant congenital melanocytic nevus with vascular malformation and epidermal cysts associated with a somatic activating mutation in BRAF. Pigment Cell Melanoma Res. 2018;31(3):437-441.

Thomas AC, Heux P, Santos C, Arulvasan W, Solanky N, Carey ME, Gerrelli D, Kinsler VA, Etchevers HC. Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development. Birth Defects Res. 2018;110(5):443-455.

Odelin G, Faure E, Coulpier F, Di Bonito M, Bajolle F, Studer M, Avierinos J-F, Charnay P, Topilko P, Zaffran S. Krox20 defines a subpopulation of cardiac neural crest cells contributing to arterial valves and bicuspid aortic valve. Development. 2018;145 (1). pii: dev151944.


Rambeau P, Faure E, Theron A, Avierinos JF, Jopling C, Zaffran S, Faucherre A. Reduced aggrecan expression affects cardiac outflow tract development in zebrafish and is associated with bicuspid aortic valve disease in humans. Int J Cardiol. 2017;249:340-343.

Boeva V, Louis-Brennetot C, Peltier A, Durand S, Pierre-Eugene C, Raynal V, Etchevers HC, Thomas S, Lermine A, Daudigeos-Dubus E, Geoerger B, Orth MF, Grunewald TGP, Diaz E, Ducos B, Surdez D, Carcaboso AM, Medvedeva I, Deller T, Combaret V, Lapouble E, Pierron G, Grossetete-Lalami S, Baulande S, Schleiermacher G, Barillot E, Rohrer H, Delattre O, Janoueix-Lerosey I. Heterogeneity of neuroblastoma cell identity defined by transcriptional circuitries. Nat Genet. 2017;49(9):1408-1413.

Charlet J, Tomari A, Dallosso AR, Szemes M, Kaselova M, Curry TJ, Almutairi B, Etchevers HC, McConville C, Malik KT, Brown KW. Genome-wide DNA methylation analysis identifies MEGF10 as a novel epigenetically repressed candidate tumor suppressor gene in neuroblastoma. Mol Carcinog. 2017;56(4):1290-1301.

Etchevers, H.C. Pericyte ontogeny: the use of chimeras to track a cell lineage of diverse germ line origins. In press.

Creuzet, S.E., Etchevers, H.C. (2017). Embryologie de l'oeil humain. In Ophtalmologie pédiatrique. Rapport SFO 2017. Editors: D. Denis, E. Qui Buoc, A. Aziz Alessi, pp. 739-756. Elsevier-Masson, Paris, France.

Ovaert C, Busa T, Faure E, Missirian S, Philip N, Paoli F, Milh M, Mace L, Zaffran S. FOXC1 Haploinsufficiency due to 6p25 Deletion in a Patient with Rapidly Progressing Aortic Valve Disease. American Journal of Medical Genetics: Part A. 2017;173(9):2489-2493.

Labbe P, Faure E, Lecointe S, Le Scouarnec S, Kyndt F, Marrec M, Le Tourneau T, Offmann B, Duplaa C, Zaffran S, Schott JJ, Merot J. The alternatively spliced LRRFIP1 Isoform-1 is a key regulator of the Wnt/b-catenin transcription pathway. BBA-Mol Cell Res. 2017;1864(7):1142-1152.

Zaffran S, Bajolle F. Genetics and developmental basis of the bicuspid aortic valve. Arch Mal Coeur Vaiss. 2017;256:22-26.

Stefanovic S, Zaffran S. Mechanisms of retinoic acid signaling during cardiogenesis. Mech Dev. 2017;143(1-2):9-19.

Roux M, Laforest B, Eudes N, Bertrand N, Stefanovic S, Zaffran S. Hoxa1 and Hoxb1 are required for pharyngeal arch artery development. Mech Dev. 2017;143(1-2):1-8.


Laforest B, Zaffran S. Genetics of conotruncal anomalies. In Surgery of conotruncal anomalies. Editors: F. Lacour-Gayet, T. Spray, E. Bove, V. Hraska, V Morrel, 2016, pp. 607-621. Springer International Publishing, Switzerland.

Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Beroud C, Collod-Beroud G. WES/WGS reporting of mutations from cardiovascular "actionable" genes in clinical practice: a key role for UMD knowledgebases in the era of big databases. Hum Mutat. 2016;37(12):1308-1317.

Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Fabre A, Arnaud P, Barre L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Beroud C, Collod-Beroud G. Actionable Genes, Core Databases and LOCUS Specific Databases (LSDBs). Hum Mutat. 2016;37(12):1299-1307.

Roux M, Zaffran S. Hox Genes in Cardiovascular Development and Diseases. J Dev Biol. 2016;4(2):14.

Chassaing N, Davis EE, McKnight KL, Niederriter AR, Causse A, David V, Desmaison A, Lamarre S, Vincent-Delorme C, Pasquier L, Coubes C, Lacombe D, Rossi M, Dufier JL, Dollfus H, Kaplan J, Katsanis N, Etchevers HC, Faguer S, Calvas P. Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network. Genome Res. 2016;26(4):474-85.

Theron A, Pinard A, Riberi A, Zaffran S. An uncommon cause of tricuspid regurgitation: three dimensional echocardiographic incremental value, surgical and genetic insights. European Journal of Cardio-Thoracic Surgery. 2016;50(1):180-2.

Escot S, Blavet C, Faure E, Riberi A, Zaffran, S, Duband JL, Fournier-Thibault C. Disruption of CXCR4 signaling in pharyngeal neural crest cells causes DiGeorge syndrome-like malformations. Development. 2016;143(4):582-8.

Theron A, Odelin G, Faure E, Avierinos JF, Zaffran S. Krox20 heterozygous mice: a model of aortic regurgitation associated with decreased expression of fibrillar collagen genes. Archives of Cardiovascular Diseases. 2016;109(3):188-98.

El Robrini N, Etchevers H, Ryckebusch L, Faure E, Eudes N, Niederreither K, Zaffran Sß, Bertrand Nß. Cardiac outflow morphogenesis depends on effects of retinoic acid signaling on multiple cell lineages. Dev Dyn. 2016;245(3):388-401.ßCo-Senior author


Zaffran S, Niederreither K. (2015). Retinoic acid signaling and heart development. In The Retinoids: Biology, Biochemistry, and Disease. Editors: P Dollée, K Niederreither, pp.353-369. Wiley-Blackwell, New Jersey, USA.

Roux M, Laforest B, Capecchi M, Bertrand N, Zaffran S. Hoxb1 regulates proliferation and differentiation of second heart field progenitors in pharyngeal mesoderm and genetically interacts with Hoxa1 during cardiac outflow tract development. Dev Biol. 2015;406(2):247-258.

Papoutsi T, Odelin G, Moore-Morris T, Puceat M, de la Pompa JL, Robert B, Zaffran S. Msx1CreERT2 knock-in allele: A useful tool to target embryonic and adult cardiac valves. Genesis. 2015;53(5):337-345.

Price HN, O'Haver J, Marghoob A, Badger K, Etchevers H, Krengel S. Practical Application of the New Classification Scheme for Congenital Melanocytic Nevi. Pediatr Dermatol. 2015;32(1):23-7.


Odelin G*, Faure E*, Kober F, Maurel-Zaffran C, Theron A, Coulpier F, Guillet B, Bernard M, Avierinos JF, Charnay P, Topilko P, Zaffran S. Loss of Krox20 results in aortic valve regurgitation and impaired transcriptional activation of fibrillar collagen genes. Cardiovasc. Res. 2014;104(3):443-55.

Rana MS, Theveniau-Ruissy M, De Bono C, Mesbah K, Francou A, Rammah M, Dominguez JN, Roux M, Laforest B, Anderson RH, Mohun RJ, Zaffran S, Christoffels VM, Kelly RG. Tbx1 Coordinates Addition of Posterior Second Heart Field Progenitor Cells to the Arterial and Venous Poles of the Heart. Circ Res. 2014;115(9):790-9.

Laforest B, Bertrand N, Zaffran S. Genetic lineage tracing analysis of anterior Hox expressing cells. Methods Mol Biol. 2014;1196:37-48.

Etchevers HC. Hiding in plain sight: molecular genetics applied to giant congenital melanocytic nevi. J Invest Dermatol. 2014;134(4):879-82.

Zaffran S, El Robrini N, Bertrand N. Retinoids and Cardiac Development. J Dev Biol. 2014;2, 50-71.

Laforest B, Bertrand N, Zaffran S. Anterior Hox Genes in Cardiac Development and Great Artery Patterning. J Cardiovasc Dev Dis. 2014;1, 3-13.


Yajima I, Colombo S, Puig I, Champeval D, Kumasaka M, Belloir E, Bonaventure J, Mark M, Yamamoto H, Taketo MM, Choquet P, Etchevers HC, Beermann F, Delmas V, Monassier L, Larue L. A subpopulation of smooth muscle cells, derived from melanocyte-competent precursors, prevents patent ductus arteriosus. PLoS One. 2013;8(1):e53183.


Yusuke W, Zaffran S, Kuroiwa A, Higuchi H, Ogura T, Harvey RP, Kelly RG, Buckingham M. Fgf10 regulation in the second heart field by Tbx1, Nkx2-5 and Islet1 reveals a genetic switch for down-regulation in the myocardium.Proc Natl Acad Sci U S A. 2012;109(45):18273-80.

Krupp DR, Xu PT, Thomas S, Dellinger A, Etchevers HC, Vekemans M, Gilbert JR, Speer MC, Ashley-Koch AE, Gregory SG. Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE). Birth Defects Res A Clin Mol Teratol. 2012;94(9):683-92.

Van Piet P, Wu SM, Zaffran S, Puceat M. Early cardiac development: a view from stem cells to embryos. Cardiovasc Res. 2012;96(3):352-62.

Zaffran S, Kelly RG. New developments in the second heart field. Differentiation. 2012;84(1):17-24.

Chassaing N, Sorrentino S, Davis EE, Martin-Coignard D, Iacovelli A, Paznekas WA, Webb BD, Faye-Petersen O, Encha-Razavi F, Lequeux L, Vigouroux A, Yesilyurt A, Boyadjiev SA, Kayserili H, Loget P, Carles D, Sergi C, Puvabanditsin S, Chen CP, Etchevers HC, Katsanis N, Mercer CL, Calvas P, Jabs EW. (2012) OTX2 mutations contribute to the otocephaly-dysgnathia complex. J Med Genet. 2012;49(6):373-379.

Bun SS, Kober F, Jacquier A, Espinosa L, Kalifa J, Bonzi MF, Kopp F, Lalevee N, Zaffran S, Deharo JC, Cozzone P, Bernard M. Value of In Vivo T2 Measurement for Myocardial Fibrosis Assessment in Diabetic Mice at 11.75 T. Investigation Radiology. 2012;47(5):319-323.

Reyes-Mugica M, M Beckwith, HC Etchevers. (2012) Etiology of congenital melanocytic nevi and related conditions. In: Nevogenesis (Practical Clinical Medicine series) eds. A. Marghoob, J. Grinchik, A. Scope and S. Dusza. Springer, New York.

van der Werf C, Wabbersen T, Hsiao NH, Parades J, Etchevers H, Kroise P, Tibboel D, Babarit C, Schreiber R, Hoffenberg E, Vekemans M, Zeder S, Ceccherini I, Lyonnet S, Ribeiro A, Seruca R, te Meerman G, Ijzendoorn S, Shepherd I, Verheij J, Hofstra RMW. Mutations in CLMP cause Congenital Short Bowel Syndrome, pointing to the major role of CLMP in intestinal development. Gastroenterology. 2012;142(3):453-462.e3.

Golzio C, Havis E, Daubas P, Nuel G, Babarit C, Munnich A, Vekemans M, Zaffran S, Lyonnet S, Etchevers HC. ISL1 directly regulates FGF10 transcription during human cardiac outflow formation. PLoS ONE. 2012;7(1):e30677.


Diman NY, Remacle S, Bertrand N, Picard J, Zaffran Sß, Rezsohazy Rß. A retinoic acid responsive hoxa3 transgene expressed in embryonic pharyngeal endoderm, cardiac neural crest and a subdomain of the second heart field. PLoS ONE. 2011;6(11):e27624.ßCo-Senior authors

Bertrand N, Roux M, Ryckebusch L, Niederreither K, Dolle P, Moon A, Capecchi M, Zaffran S. Hox genes define distinct progenitor sub-domains within the second heart field. Dev Biol. 2011;353(2):266-74.

Krengel S, Breuninger H, Beckwith M, Etchevers HC. Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, Tübingen. Pigment Cell & Melanoma Res. 2011;24(4):E1-6.

Mace M, Galiacy S, Erraud A, Mejia JE, Etchevers H, Allouche M, Desjardins L, Calvas P, Malecaze F. Comparative transcriptome and network biology analyses demonstrate antiproliferative and hyperapoptotic phenotypes in human keratoconus corneas. Invest Ophthalmol Vis Sci. 2011;52(9):6181-91.

de Pontual L, Kettaneh D, Gordon CT, Oufadem M, Boddaert N, Lees M, Balu L, Lachassinne E, Petros A, Mollet J, Wilson LC, Munnich A, Brugiere L, Delattre O, Vekemans M, Etchevers H, Lyonnet S, Janoueix-Lerosey I, Amiel J. Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat. 2011;32,272-276.

Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, Genevieve D, Goldenberg A, Heron D, Mercier S, Philip N, Sigaudy S, Verloes A, Sarnacki S, Munnich A, Vekemans M, Lyonnet S, Etchevers H, Amiel J, de Pontual J. Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. Eur J Hum Genet. 2011;19,602-606.

Etchevers H. Primary culture of chick, mouse or human neural crest cells. Nat Protoc. 2011;6(10):1568-77.


Medioni C, Bertrand N, Mesbah K, Hudry B, Dupays L, Wolstein O, Washkowitz AJ, Papaioannou V, Mohun T, Harvey RP, Zaffran S. Expression of Slit and Robo genes in the developing mouse heart. Dev Dyn. 2010;239(12):3303-11.

Lin SC, Dolle P, Ryckebusch L, Noseda M, Zaffran S, Schneider MD, Niederreither K. Endogenous retinoic acid regulates cardiac progenitor differentiation. Proc Natl Acad Sci U S A. 2010;107(20):9234-9

Thomas S, F Encha-Razavi, L Devisme, H Etchevers, B Bessieres-Grattagliano, G Goudefroye, N Elkhartoufi, E Pateau, A Ichkou, et al. High-throughput Sequencing of a 4.1 Mb Linkage Interval Reveals FLVCR2 Deletions and Mutations in Lethal Cerebral Vasculopathy. Hum Mutat. 2010;31(10),1134-41.

Ryckebusch L, Bertrand N, Mesbah K, Bajolle F, Niederreither K, Kelly RG, Zaffran S. Decreased levels of embryonic Retinoic acid synthesis accelerate recovery from arterial growth delay in a mouse model of DiGeorge syndrome.Circ Res. 2010;106(4):686-94.


Bonnet D, Zaffran S, Kelly R, Bajolle F. Embryological and genetic mechanisms of cardiac great arteries malformations. J Soc Biol. 2009;203(2):161-5.

Bajolle F, Zaffran S, Losay J, Buckingham M, Bonnet D. Conotruncal defects with associated anomalous pulmonary venous connections. Archives of Cardiovascular Diseases. 2009;102, 105-110.

Ryckebusch L, Zaffran S. Embryonic dysfunction and congenital heart diseases. Arch Mal Coeur Vaiss. 2009;174, 28-32.

Bajolle F, Zaffran S, Bonnet D. Genetic and mechanism of congenital heart diseases. Archives of Cardiovascular Diseases. 2009;102, 59-63.


Galli D, Dominguez JN, Zaffran S, Munk A, Brown N, Buckingham M. Atrial myocardium derives from the posterior region of the second heart field, which acquires left/right identity as Pitx2c is expressed. Development. 2008;135, 1157-1167.

Ryckebusch L, Wang Z, Bertrand N, Lin SC, Schwartz R, Zaffran Sß, Niederreither Kß. Retinoic acid deficiency alters second heart field. Proc Natl Acad Sci U S A. 2008;105, 2913-2918. ßCo-Senior authors

Bajolle F ,Zaffran S. Haemodynamic induces aortic arch asymmetry. Medecine Sciences. 2008;24, 354-356.

Bajolle F, Zaffran S, Meilhac S, Chang T, Kelly RG, Buckingham ME. Myocardium at the base of the aorta and pulmonary trunk is prefigured in the early heart and pharyngeal mesodermal progenitors cell populations. Dev Biol. 2008;312, 25-34.


Lo P, Zaffran S, Senatore S, Frasch M. The Drosophila Hand gene is required for remodeling of the developing and adult heart and midgut during metamorphosis. Dev Biol. 2007;311, 287-296.

Bajolle F, Zaffran S, Bonnet D. Molecular bases of congenital heart diseases. Arch Mal Coeur Vaiss. 2007;100, 484-489.

Bajolle F, Bertrand N, Zaffran S. (2007). Developpement du systeme cardiovasculaire. Traite de cardiologie et des maladies cardiovasculaires. Société Française de cardiologie, Editors: JY. Artigou, JJ. Monsuez, pp.12-16. Masson, Paris, France.

Prall OW, Menon M, Solloway M, Watanabe Y, Zaffran S, Bajolle F, et al. An Nkx2.5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation. Cell. 2007;128, 947-959.


Zaffran S, Reim I, Qian L, Lo PC, Bodmer R, Frasch M. Cardioblast-intrinsic Tinman activity controls proper diversification and differentiation of myocardial cells in Drosophila. Development. 2006;133, 4073-4083.

Bonnet D, Bajolle F, Zaffran S. Mecanismes embryologiques et genetique des cardiopathies. Med Feot Ech Gyn. 2006;68, 17-19.

Marguerie-Petiot A*, Bajolle F*, Zaffran S, Brown N, Dickson C, Buckingham ME, Kelly RG. Congenital heart diseases in Fgfr2-IIIb and Fgf10 mutant mouse embryos. Cardiovasc Res. 2006;71, 50-60.

Bajolle F*, Zaffran S*, Kelly RG, Hadchouel J, Bonnet D, Brown N, Buckingham ME. Rotation of the myocardium wall of the outflow tract is associated with normal positioning of the great arteries. Circ Res. 2006;98, 421-428.


Buckingham ME, Meilhac S, Zaffran S. Building the vertebrate heart from two sources of precursors. Nat Rev Genet. 2005;6, 826-835.

Kelly RG, Zaffran S, Buckingham M, Brown N. (2005). Fgf10 and the embryological origin of outflow tract myocardium. In Cardiovascular Development and Congenital Malformations. Editors: M. Artman, D.W. Benson, D. Strivastava, M. Nakazawa, pp.81-83. Blackwell Futura, Oxford, UK.


Zaffran Sß, Kelly RG, Meilhac S, Buckingham ME, Brown N. Right ventricular myocardium derives from the anterior heart field. Circ Res. 2004;95, 261-268. ßCorresponding author

Lee HH, Zaffran S, Frasch M. (2004). The development of the larva visceral musculature of Drosophila. In Muscle Development in Drosophila. H Sink, ed. (Georgetown, TX, USA, Landes Bioscience Collection).


Kelly RG, Lemonnier M, Zaffran S, Munk A, Buckingham ME. Cell history determines the maintenance of transcriptional differences between cardiomyocytes in the developing mouse heart. J Cell Sci. 2003;116, 5005-5013.

Zaffran Sß, Kelly RG, Munk A, Brown N, Buckingham ME. The mouse as a model for heart morphogenesis in mammals: the origin of myocytes and studies with cardiac explants. J Soc Biol. 2003;197, 187-194. ßCorresponding author

*Equal contribution.

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