Pinson L, Mannini L, Willems M, Cucco F, Sirvent N, Frebourg T, et al. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. Am J Med Genet A 2014;164:177-81.
Vincent M, Collet C, Verloes A, Lambert L, Herlin C, Blanchet C, et al. Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability. Eur J Hum Genet 2014;22:52-6.
Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, et al. Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability. Eur J Hum Genet 2014;22:289-92.
Corsini C, Gencik M, Willems M, Decker E, Sanchez E, Puechberty J, et al. Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling. Eur J Hum Genet 2014;22:136-9.
Tran Mau-Them F, Boualam A, Barat-Houari M, Jeandel C, Cottalorda J, Cormier-Daire V, et al. Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity. Am J Med Genet A 2013.
Doco-Fenzy M, Leroy C, Schneider A, Petit F, Delrue MA, Andrieux J, et al. Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes. Eur J Hum Genet 2013.
Michot C, Corsini C, Sanlaville D, Baumann C, Toutain A, Philip N, et al. Finger creases lend a hand in Kabuki syndrome. Eur J Med Genet 2013;56:556-60.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 2013;45:962.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet 2013;45:639-47.
Courcet JB, Faivre L, Michot C, Burguet A, Perez-Martin S, Alix E, et al. Clinical and molecular spectrum of renal malformations in Kabuki syndrome. J Pediatr 2013;163:742-6.
Nizon M, Alanay Y, Tuysuz B, Kiper PO, Geneviève D, Sillence D, et al. IMPAD1 mutations in two Catel-Manzke like patients. Am J Med Genet A 2012;158A:2183-7.
Amouroux C, Vincent M, Blanchet P, Puechberty J, Schneider A, Chaze AM, et al. Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay. Eur J Hum Genet 2012;20:580-3.
de Pontual L, Yao E, Callier P, Faivre L, Drouin V, Cariou S, et al. Germline deletion of the miR-17?92 cluster causes skeletal and growth defects in humans. Nat Genet 2011;43:1026-30.
Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, et al. Mutations in the TGF? binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet 2011;89:7-14.
Geneviève D, de Pontual L, Amiel J, Lyonnet S. Genetic factors in isolated and syndromic esophageal atresia. J Pediatr Gastroenterol Nutr 2011;52 Suppl 1:S6-8.
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, et al. Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet 2011;48:417-21.
Cognet M, Nougayrede A, Malan V, Callier P, Cretolle C, Faivre L, et al. Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia. Eur J Hum Genet 2011;19:602-6.
Desmyter L, Ghassibe M, Revencu N, Boute O, Lees M, François G, et al. IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. Mol Syndromol 2010;1:67-74.
Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, et al. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet 2010;19:4462-73.
Willems M, Geneviève D, Borck G, Baumann C, Baujat G, Bieth E, et al. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet 2010;47:797-802.
Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, et al. The C20orf133 gene is disrupted in a patient with Kabuki syndrome. BMJ Case Rep 2009;2009.
Perez MJ, Schneider A, Chaze AM, Bigi N, Lefort G, Rouleau C, et al. Epiphyseal punctate calcifications (stippling) in complete trisomy 9. Prenat Diagn 2009;29:1085-8.
Puget S, Garnett MR, Leclercq D, Pinto-Primard G, Samara-Boustani D, Sainte-Rose C, et al. Hypothalamic lipoma associated with severe obesity. Report of 2 cases. J Neurosurg Pediatr 2009;4:147-50.
Dagoneau N, Goulet M, Geneviève D, Sznajer Y, Martinovic J, Smithson S, et al. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet 2009;84:706-11.
Geneviève D, Le Merrer M, Feingold J, Munnich A, Maroteaux P, Cormier-Daire V. Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. Am J Med Genet A 2008;146A:992-6.
Geneviève D, Proulle V, Isidor B, Bellais S, Serre V, Djouadi F, et al. Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome). Nat Genet 2008;40:284-6.
Maas NM, Van de Putte T, Melotte C, Francis A, Schrander-Stumpel CT, Sanlaville D, et al. The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet 2007;44:562-9.
Geneviève D, de Pontual L, Amiel J, Sarnacki S, Lyonnet S. An overview of isolated and syndromic oesophageal atresia. Clin Genet 2007;71:392-9.
Crétolle C, Sarnacki S, Amiel J, Geneviève D, Encha-Razavi F, Zrelli S, et al. Currarino syndrome shown by prenatal onset ventriculomegaly and spinal dysraphism. Am J Med Genet A 2007;143A:871-4.
Isidor B, Dagoneau N, Huber C, Genevieve D, Bader-Meunier B, Blanche S, et al. A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. Hum Genet 2007;121:269-73.
Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, et al. Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 2006;79:370-7.
Delnatte C, Sanlaville D, Mougenot JF, Vermeesch JR, Houdayer C, Blois MC, et al. Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet 2006;78:1066-74.
Geneviève D, Walter E, Gorry P, Jacquemont ML, Dupic L, Layet V, et al. Gorlin syndrome presenting as prenatal chylothorax in a girl. Prenat Diagn 2005;25:997-9.
Tamary H, Dgany O, Proust A, Krasnov T, Avidan N, Eidelitz-Markus T, et al. Clinical and molecular variability in congenital dyserythropoietic anaemia type I. Br J Haematol 2005;130:628-34.
Geneviève D, Sanlaville D, Faivre L, Kottler ML, Jambou M, Gosset P, et al. Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties. Eur J Hum Genet 2005;13:1033-9.
Geneviève D, Le Merrer M, Munnich A, Maroteaux P, Cormier-Daire V. Long-term follow-up in a patient with metatropic dysplasia. Am J Med Genet A 2005;135:342-3.
Sanlaville D, Genevieve D, Bernardin C, Amiel J, Baumann C, de Blois MC, et al. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome. Eur J Hum Genet 2005;13:690-3.
Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, et al. Functional disomy of the Xq28 chromosome region. Eur J Hum Genet 2005;13:579-85.
Geneviève D, Héron D, El Ghouzzi V, Prost-Squarcioni C, Le Merrer M, Jacquette A, et al. Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation. Eur J Hum Genet 2005;13:541-6.
Thauvin-Robinet C, Faivre L, Barbier ML, Chevret L, Bourgeois J, Netter JC, et al. Severe lactic acidosis and acute thiamin deficiency: a report of 11 neonates with unsupplemented total parenteral nutrition. J Inherit Metab Dis 2004;27:700-4.
Verloes A, Raoul M, Genevieve D, Sznajer Y, Demarche M, Lombet J, et al. Bony syngnathia, vertebral segmentation defect, coloboma, microcephaly and mental retardation: confirmation of Dobrow syndrome and review of syndromal syngnathias. Clin Dysmorphol 2004;13:205-11.
Cormier-Daire V, Geneviève D, Munnich A, Le Merrer M. New insights in congenital bowing of the femora. Clin Genet 2004;66:169-76.
Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Geneviève D, et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004;13:2493-503.
Philippe A, Deron J, Geneviève D, de Lonlay P, Gibson KM, Rabier D, et al. Neurodevelopmental pattern of succinic semialdehyde dehydrogenase deficiency (gamma-hydroxybutyric aciduria). Dev Med Child Neurol 2004;46:564-8.
Geneviève D, Amiel J, Viot G, Le Merrer M, Sanlaville D, Urtizberea A, et al. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A 2004;129A:64-8.
Genevieve D, Baumann C, Huber C, Faivre L, Sanlaville D, Bodemer C, et al. A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation. J Med Genet 2004;41:e77.
Geneviève D, Sznajer Y, Raoul M, Sanlaville D, Verloes A, Portnoï MF, et al. Clinical overlap of OFD type IX with Pallister-Killian syndrome (tetrasomy 12p). Am J Med Genet A 2003;122A:180-2.
Cazeneuve C, Geneviève D, Amselem S, Hentgen V, Hau I, Reinert P. MEFV gene analysis in PFAPA. J Pediatr 2003;143:140-1.
Cazeneuve C, Hovannesyan Z, Geneviève D, Hayrapetyan H, Papin S, Girodon-Boulandet E, et al. Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis Rheum 2003;48:2324-31.
Kerr B, Einaudi MA, Clayton P, Gladman G, Eden T, Saunier P, et al. Is growth hormone treatment beneficial or harmful in Costello syndrome? J Med Genet 2003;40:e74.
Genevieve D, Cormier-Daire V, Sanlaville D, Faivre L, Gosset P, Allart L, et al. Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. Am J Med Genet A 2003;116A:90-3.
Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, et al. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. J Med Genet 2002;39:594-6.
Sanlaville D, Romana SP, Lapierre JM, Amiel J, Genevieve D, Ozilou C, et al. A CGH study of 27 patients with CHARGE association. Clin Genet 2002;61:135-8.
Faivre L, Amiel J, Ouachée-Chardin M, Geneviève D, Munnich A, Cormier-Daire V, et al. Septo-optic dysplasia and digital anomalies: another observation. Am J Med Genet 2002;108:247-8.
Faivre L, Cormier-Daire V, Geneviève D, Pinto G, Goulet O, Munnich A, et al. A novel syndrome with dwarfism, poorly muscled build, absent clavicles, humeroradial fusion, slender bones, oligodactyly and micrognathia. Clin Dysmorphol 2001;10:181-4.
Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Geneviève D, Mndjoyan E, et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 2000;67:1136-43.
1. Geneviève D. Syndromes Dysmorphiques. Chapitre 20: Syndromes avec fentes palatines p268-282. Progrès en Pédiatrie 35. Douin Editeur. 2013.
