Sermondade N, Hesters L, De Mouzon J, Devaux A, Epelboin S, Fauque P, Gervoise-Boyer MJ, Labrosse J, Viot G, Bergère M, Devienne C, Jonveaux P, Levy R, Pessione F

Reprod Biomed Online. 2023 04;46(4):739-749

Risk factors associated with preterm birth in singletons born after IVF: a national cohort study.

Gervoise-Boyer MJ, Fauque P, De Mouzon J, Devaux A, Epelboin S, Levy R, Valentin M, Viot G, Bonomini J, Bergère M, Jonveaux P, Pessione F

Reprod Biomed Online. 2023 04;46(4):750-759

The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.

Chevarin M, Alcantara D, Albuisson J, Collonge-Rame MA, Populaire C, Selmani Z, Baurand A, Sawka C, Bertolone G, Callier P, Duffourd Y, Jonveaux P, Bignon YJ, Coupier I, Cornelis F, Cordier C, Mozelle-Nivoix M, Rivière JB, Kuentz P, Thauvin C, Boidot R, Ghiringhelli F, O'Driscoll M, Faivre L, Nambot S

Oncotarget. 2023 02 7;14:111-125

Obstetrical outcomes and maternal morbidities associated with COVID-19 in pregnant women in France: A national retrospective cohort study.

Epelboin S, Labrosse J, De Mouzon J, Fauque P, Gervoise-Boyer MJ, Levy R, Sermondade N, Hesters L, Bergère M, Devienne C, Jonveaux P, Ghosn J, Pessione F

PLoS Med. 2021 11;18(11):e1003857

Overview of hospitalizations in women undergoing oocyte retrieval for ART in the French national health data system.

Lemardeley G, Pirrello O, Dieterlé S, Zebina A, Astrugue C, Jonveaux P, Lucas-Samuel S, Couchoud C

Hum Reprod. 2021 09 18;36(10):2769-2781

Endometriosis and assisted reproductive techniques independently related to mother-child morbidities: a French longitudinal national study.

Epelboin S, Labrosse J, Fauque P, Levy R, Gervoise-Boyer MJ, Devaux A, Bergère M, de Vienne C, Jonveaux P, De Mouzon J, Pessione F

Reprod Biomed Online. 2021 03;42(3):627-633

Do in vitro fertilization, intrauterine insemination or female infertility impact the risk of congenital anomalies in singletons? A longitudinal national French study.

Fauque P, De Mouzon J, Devaux A, Epelboin S, Gervoise-Boyer MJ, Levy R, Valentin M, Viot G, Bergère M, De Vienne C, Jonveaux P, Pessione F

Hum Reprod. 2021 02 18;36(3):808-816

Reproductive technologies, female infertility, and the risk of imprinting-related disorders.

Fauque P, De Mouzon J, Devaux A, Epelboin S, Gervoise-Boyer MJ, Levy R, Valentin M, Viot G, Bergère A, De Vienne C, Jonveaux P, Pessione F

Clin Epigenetics. 2020 12 11;12(1):191

[Adverse obstetric and perinatal outcome with in vitro fertilization technology: A French nationwide population-based study].

Pessione F, De Mouzon J, Deveaux A, Epelboin S, Gervoise-Boyer MJ, Jimenez C, Levy R, Valentin M, Viot G, Bergère M, Merlet F, Jonveaux P

Gynecol Obstet Fertil Senol. 2020 04;48(4):351-358

Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.

Schwartz M, Korenbaum C, Benfoda M, Mary M, Colas C, Coulet F, Parrin M, Jonveaux P, Ingster O, Granier S, De Mestier L, Cros J, Riffault A, Muller M, Levy P, Rebours V, Greenhalf W, Soufir N, Hammel P

Clin Genet. 2019 12;96(6):579-584

Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non-homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Moradkhani K, Cuisset L, Boisseau P, Pichon O, Lebrun M, Hamdi-Rozé H, Maurin ML, Gruchy N, Manca-Pellissier MC, Malzac P, Bilan F, Audrezet MP, Saugier-Veber P, Fauret-Amsellem AL, Missirian C, Kuentz P, Egea G, Guichet A, Creveaux I, Janel C, Harzallah I, Touraine R, Goumy C, Joyé N, Puechberty J, Haquet E, Chantot-Bastaraud S, Schmitt S, Gosset P, Duban-Bedu B, Delobel B, Vago P, Vialard F, Gomes DM, Siffroi JP, Bonnefont JP, Dupont JM, Jonveaux P, Doco-Fenzy M, Sanlaville D, Le Caignec C

Prenat Diagn. 2019 10;39(11):986-992

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S

Eur J Hum Genet. 2019 04;27(4):525-534

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Leclerc J, Flament C, Lovecchio T, Delattre L, Ait Yahya E, Baert-Desurmont S, Burnichon N, Bronner M, Cabaret O, Lejeune S, Guimbaud R, Morin G, Mauillon J, Jonveaux P, Laurent-Puig P, Frébourg T, Porchet N, Buisine MP

Genet Med. 2018 12;20(12):1589-1599

Clinical and pathologic characteristics of breast cancer patients carrying the c.3481_3491del11 mutation.

El Tannouri R, Albuisson E, Jonveaux P, Luporsi E

Fam. Cancer. 2018 Mar 17;:

Is there a genetic anticipation in breast and/or ovarian cancer families with the germline c.3481_3491del11 mutation?

El Tannouri R, Albuisson E, Jonveaux P, Luporsi E

Fam. Cancer. 2017 May;:

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.

Allou L, Julia S, Amsallem D, El Chehadeh S, Lambert L, Thevenon J, Duffourd Y, Saunier A, Bouquet P, Pere S, Moustaïne A, Ruaud L, Roth V, Jonveaux P, Philippe C

Clin. Genet.. 2017 Mar;91(3):431-440

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J

Am. J. Hum. Genet.. 2016 Dec;99(6):1368-1376

Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

Latger-Cannard V, Philippe C, Bouquet A, Baccini V, Alessi MC, Ankri A, Bauters A, Bayart S, Cornillet-Lefebvre P, Daliphard S, Mozziconacci MJ, Renneville A, Ballerini P, Leverger G, Sobol H, Jonveaux P, Preudhomme C, Nurden P, Lecompte T, Favier R

Orphanet J Rare Dis. 2016 Apr;11:49

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.

Baert-Desurmont S, Charbonnier F, Houivet E, Ippolito L, Mauillon J, Bougeard M, Abadie C, Malka D, Duffour J, Desseigne F, Colas C, Pujol P, Lejeune S, Dugast C, Buecher B, Faivre L, Leroux D, Gesta P, Coupier I, Guimbaud R, Berthet P, Manouvrier S, Cauchin E, Prieur F, Laurent-Puig P, Lebrun M, Jonveaux P, Chiesa J, Caron O, Morin-Meschin ME, Polycarpe-Osaer F, Giraud S, Zaanan A, Bonnet D, Mansuy L, Bonadona V, El Chehadeh S, Duhoux F, Gauthier-Villars M, Saurin JC, Collonge-Rame MA, Brugières L, Wang Q, Bressac-de Paillerets B, Rey JM, Toulas C, Buisine MP, Bronner M, Sokolowska J, Hardouin A, Cailleux AF, Sebaoui H, Blot J, Tinat J, Benichou J, Frebourg T

Eur. J. Hum. Genet.. 2016 Jan;24(1):99-105

GENESIS: a French national resource to study the missing heritability of breast cancer.

Sinilnikova OM, Dondon MG, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, Verny-Pierre C, Sornin V, Toulemonde L, Beauvallet J, Le Gal D, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Dugast C, Gesta P, Fricker JP, Noguès C, Faivre L, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon YJ, Adenis C, Venat-Bouvet L, Demange L, Dreyfus H, Frenay M, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Chevrier A, Limacher JM, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Colas C, Fert-Ferrer S, Penet C, Frebourg T, Collonge-Rame MA, Barouk-Simonet E, Layet V, Leroux D, Cohen-Haguenauer O, Prieur F, Mouret-Fourme E, Cornélis F, Jonveaux P, Bera O, Cavaciuti E, Tardivon A, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Andrieu N

BMC Cancer. 2016 Jan;16:13

A pure familial 6q15q21 split duplication associated with obesity and transmitted with partial reduction.

Landais E, Leroy C, Kleinfinger P, Brunet S, Koubi V, Pietrement C, Poli-Merol ML, Fiquet C, Souchon PF, Beri M, Jonveaux P, Garnotel R, Gaillard D, Doco-Fenzy M

Am J Med Genet A. 2015 Apr 21

WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period.

Valduga M, Philippe C, Lambert L, Bach-Segura P, Schmitt E, Masutti JP, Francois B, Pinaud P, Vibert M, Jonveaux P

J Hum Genet. 2015 Feb 26

Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers.

El Chehadeh S, Bonnet C, Callier P, Beri M, Dupre T, Payet M, Ragon C, Mosca-Boidron AL, Marle N, Mugneret F, Masurel-Paulet A, Thevenon J, Seta N, Duplomb L, Jonveaux P, Faivre L, Thauvin-Robinet C

JIMD Rep. 2015;20:45-55

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

Mignot C, Lambert L, Pasquier L, Bienvenu T, Delahaye-Duriez A, Keren B, Lefranc J, Saunier A, Allou L, Roth V, Valduga M, Moustaine A, Auvin S, Barrey C, Chantot-Bastaraud S, Lebrun N, Moutard ML, Nougues MC, Vermersch AI, Heron B, Pipiras E, Heron D, Olivier-Faivre L, Gueant JL, Jonveaux P, Philippe C

J Med Genet. 2015 Jan;52(1):61-70

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

Degrolard-Courcet E, Sokolowska J, Padeano MM, Guiu S, Bronner M, Chery C, Coron F, Lepage C, Chapusot C, Loustalot C, Jouve JL, Hatem C, Ferrant E, Martin L, Coutant C, Baurand A, Couillault G, Delignette A, El Chehadeh S, Lizard S, Arnould L, Fumoleau P, Callier P, Mugneret F, Philippe C, Frebourg T, Jonveaux P, Faivre L

Eur J Hum Genet. 2014 Aug;22(8):979-87

Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

Bonnet C, Ali Khan A, Bresso E, Vigouroux C, Beri M, Lejczak S, Deemer B, Andrieux J, Philippe C, Moncla A, Giurgea I, Devignes MD, Leheup B, Jonveaux P

Eur J Hum Genet. 2013 Dec;21(12):1457-61

De novo complex X chromosome rearrangement unmasking maternally inherited CSF2RA deletion in a girl with pulmonary alveolar proteinosis.

Auger J, Bonnet C, Valduga M, Philippe C, Bertolo-Houriez E, Beri-Dexheimer M, Schweitzer C, Leheup B, Jonveaux P

Am J Med Genet A. 2013 Oct;161(10):2594-9

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients.

Leroy C, Landais E, Briault S, David A, Tassy O, Gruchy N, Delobel B, Gregoire MJ, Leheup B, Taine L, Lacombe D, Delrue MA, Toutain A, Paubel A, Mugneret F, Thauvin-Robinet C, Arpin S, Le Caignec C, Jonveaux P, Beri M, Leporrier N, Motte J, Fiquet C, Brichet O, Mozelle-Nivoix M, Sabouraud P, Golovkine N, Bednarek N, Gaillard D, Doco-Fenzy M

Eur J Hum Genet. 2013 Jun;21(6):602-12

Additional Evidence to Support the Role of the 20q13.33 Region in Susceptibility to Autism.

Mosca-Boidron AL, Valduga M, Thauvin-Robinet C, Lagarde N, Marle N, Henry C, Pinoit JM, Huet F, Beri-Deixheimer M, Ragon C, Gueneau L, Payet M, Callier P, Mugneret F, Jonveaux P, Faivre L

Am J Med Genet A. 2013 Apr 23

Undiagnosed phenylketonuria in parents of phenylketonuric patients, is it worthwhile to be checked?

Wiedemann A, Leheup B, Battaglia-Hsu SF, Jonveaux P, Jeannesson E, Feillet F

Mol Genet Metab. 2013;110 Suppl:S62-5

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destree A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaine A, Vigouroux A, Jonveaux P, Philippe C

Eur J Hum Genet. 2012 Dec;20(12):1216-23

MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies.

Lambert L, Bienvenu T, Allou L, Valduga M, Echenne B, Diebold B, Mignot C, Heron D, Roth V, Saunier A, Moustaine A, Jonveaux P, Philippe C

Clin Genet. 2012 Nov;82(5):499-501

RUNX1T1, a chromatin repression protein, is a candidate gene for autosomal dominant intellectual disability.

Huynh MT, Beri-Dexheimer M, Bonnet C, Bronner M, Khan AA, Allou L, Philippe C, Vigneron J, Jonveaux P

Am J Med Genet A. 2012 Jul;158A(7):1782-4

What can we learn from old microdeletion syndromes using array-CGH screening?

Mosca-Boidron AL, Bouquillon S, Faivre L, Callier P, Andrieux J, Marle N, Bonnet C, Vincent-Delorme C, Berri M, Plessis G, Manouvrier-Hanu S, Dieux-Coeslier A, Thauvin-Robinet C, Pipiras E, Delahaye A, Payet M, Ragon C, Masurel-Paulet A, Questiaux E, Benzacken B, Jonveaux P, Mugneret F, Holder-Espinasse M

Clin Genet. 2012 Jul;82(1):41-7

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability.

Thevenon J, Lopez E, Keren B, Heron D, Mignot C, Altuzarra C, Beri-Dexheimer M, Bonnet C, Magnin E, Burglen L, Minot D, Vigneron J, Morle S, Anheim M, Charles P, Brice A, Gallagher L, Amiel J, Haffen E, Mach C, Depienne C, Doummar D, Bonnet M, Duplomb L, Carmignac V, Callier P, Marle N, Mosca-Boidron AL, Roze V, Aral B, Razavi F, Jonveaux P, Faivre L, Thauvin-Robinet C

J Med Genet. 2012 Jun;49(6):400-8

Exploring the potential role of disease-causing mutation in a gene desert: duplication of noncoding elements 5' of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability.

Bonnet C, Masurel-Paulet A, Khan AA, Beri-Dexheimer M, Callier P, Mugneret F, Philippe C, Thauvin-Robinet C, Faivre L, Jonveaux P

Hum Mutat. 2012 Feb;33(2):355-8

Dysmegakaryopoiesis, a clue for an early diagnosis of familial platelet disorder with propensity to acute myeloid leukemia in case of unexplained inherited thrombocytopenia associated with normal-sized platelets.

Latger-Cannard V, Philippe C, Jonveaux P, Lecompte T, Favier R

J Pediatr Hematol Oncol. 2011 Oct;33(7):e264-6.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernandez-Aranda F, Fernandez-Real JM, Gratacos M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Mannik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Bena F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jimenez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstatter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengstrom C, Thorsteinsdottir U, Tinahones FJ, Touraine R, Vallee L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Volzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P

Nature. 2011 Aug 31;478(7367):97-102

Microtriplication of 11q24.1: a highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability.

Beneteau C, Landais E, Doco-Fenzy M, Gavazzi C, Philippe C, Beri-Dexheimer M, Bonnet C, Vigneron J, Walrafen P, Motte J, Leheup B, Jonveaux P

J Med Genet. 2011 Sep;48(9):635-9

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection.

Thevenon J, Callier P, Thauvin-Robinet C, Mejean N, Falcon-Eicher S, Maynadie M, de Maistre E, Bidot S, Huet F, Beri-Dexheimer M, Jonveaux P, Mugneret F, Faivre L

Am J Med Genet A. 2011 Jan;155A(1):126-9

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication.

Piard J, Philippe C, Marvier M, Beneteau C, Roth V, Valduga M, Beri M, Bonnet C, Gregoire MJ, Jonveaux P, Leheup B

Am J Med Genet A. 2010 Aug;152A(8):1933-41.

Delineation of 15q13.3 microdeletions.

Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L

Clin Genet. 2010 Aug;78(2):149-61

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech.

Bonnet C, Andrieux J, Beri-Dexheimer M, Leheup B, Boute O, Manouvrier S, Delobel B, Copin H, Receveur A, Mathieu M, Thiriez G, Le Caignec C, David A, de Blois MC, Malan V, Philippe A, Cormier-Daire V, Colleaux L, Flori E, Dollfus H, Pelletier V, Thauvin-Robinet C, Masurel-Paulet A, Faivre L, Tardieu M, Bahi-Buisson N, Callier P, Mugneret F, Edery P, Jonveaux P, Sanlaville D

J Med Genet. 2010 Jun;47(6):377-84.

A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations.

Valduga M, Philippe C, Bach Segura P, Thiebaugeorges O, Miton A, Beri M, Bonnet C, Nemos C, Foliguet B, Jonveaux P

Prenat Diagn. 2010 Apr;30(4):333-41.

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.

Philippe C, Amsallem D, Francannet C, Lambert L, Saunier A, Verneau F, Jonveaux P

J Med Genet. 2010 Jan;47(1):59-65

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.

Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen MA, Saunier A, Verneau F, Jonveaux P, Philippe C

Clin Genet. 2009 Oct;76(4):357-71.

Neurologic aspects of MECP2 gene duplication in male patients.

Echenne B, Roubertie A, Lugtenberg D, Kleefstra T, Hamel BC, Van Bokhoven H, Lacombe D, Philippe C, Jonveaux P, de Brouwer AP

Pediatr Neurol. 2009 Sep;41(3):187-91.

Gene-disease relationship discovery based on model-driven data integration and database view definition.

Yilmaz S, Jonveaux P, Bicep C, Pierron L, Smail-Tabbone M, Devignes MD

Bioinformatics. 2009 Jan 15;25(2):230-6

Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.

Beri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V, Gregoire MJ, Bordigoni P, Lecompte T, Leheup B, Jonveaux P

Eur J Hum Genet. 2008 Aug;16(8):1014-8

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T

J Med Genet. 2008 Mar;45(3):172-8

Prenatal diagnosis of mosaicism for 11q terminal deletion

Valduga M, Cannard VL, Philippe C, Romana S, Miton A, Droulle P, Foliguet B, Lecompte T, Jonveaux P

Eur J Med Genet. 2007 Nov-Dec;50(6):475-81

Fortuitous FISH diagnosis of an interstitial microdeletion (5)(q31.1q31.2) in a girl suspected to present a cri-du-chat syndrome.

Mosca AL, Callier P, Leheup B, Marle N, Jalloul M, Coffinet L, Feillet F, Valduga M, Jonveaux P, Mugneret F

Am J Med Genet A. 2007 Jun 15;143A(12):1342-7.

[Microarray-based comparative genomic hybridization in the study of constitutional chromosomal abnormalities]

Beri-Dexheimer M, Bonnet C, Chambon P, Brochet K, Gregoire MJ, Jonveaux P

Pathol Biol (Paris). 2007 Feb;55(1):13-8

Clinical, cytogenetic and molecular characteristics of 14 T-ALL patients carrying the TCR beta-HOXA rearrangement: a study of the Groupe Francophone de Cytogenetique Hematologique

Cauwelier B, Cave H, Gervais C, Lessard M, Barin C, Perot C, Van den Akker J, Mugneret F, Charrin C, Pages MP, Gregoire MJ, Jonveaux P, Lafage-Pochitaloff M, Mozzicconacci MJ, Terre C, Luquet I, Cornillet-Lefebvre P, Laurence B, Plessis G, Lefebvre C, Leroux D, Antoine-Poirel H, Graux C, Mauvieux L, Heimann P, Chalas C, Clappier E, Verhasselt B, Benoit Y, Moerloose BD, Poppe B, Van Roy N, Keersmaecker KD, Cools J, Sigaux F, Soulier J, Hagemeijer A, Paepe AD, Dastugue N, Berger R, Speleman F

Leukemia. 2007 Jan;21(1):121-8

Deleterious mutations in exon 1 of MECP2 in Rett syndrome.

Quenard A, Yilmaz S, Fontaine H, Bienvenu T, Moncla A, des Portes V, Rivier F, Mathieu M, Raux G, Jonveaux P, Philippe C

Eur J Med Genet. 2006 Jul-Aug;49(4):313-22

[A case of de novo acute basophilic leukaemia: diagnostic criteria and review of the literature].

Staal-Viliare A, Latger-Cannard V, Rault JP, Didion J, Gregoire MJ, Bologna S, Witz B, Jonveaux P, Lecompte T, Rio Y

Ann Biol Clin (Paris). 2006 Jul-Aug;64(4):361-5.

The incidence of Rett syndrome in France.

Bienvenu T, Philippe C, De Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Feingold J, Chelly J, Villard L

Pediatr Neurol. 2006 May;34(5):372-5.

Abnormalities of the long arm of chromosome 21 in 107 patients with hematopoietic disorders: a collaborative retrospective study of the Groupe Francais de Cytogenetique Hematologique.

Jeandidier E, Dastugue N, Mugneret F, Lafage-Pochitaloff M, Mozziconacci MJ, Herens C, Michaux L, Verellen-Dumoulin C, Talmant P, Cornillet-Lefebvre P, Luquet I, Charrin C, Barin C, Collonge-Rame MA, Perot C, Van den Akker J, Gregoire MJ, Jonveaux P, Baranger L, Eclache-Saudreau V, Pages MP, Cabrol C, Terre C, Berger R

Cancer Genet Cytogenet. 2006 Apr 1;166(1):1-11.