– Cleft palate lateral synechia syndrome in two patients and literature review.
Plantin S, Fabre M, Soupre V, Guimier A, Agostini V, Gordon CT, Galliani E, Picard A, Morice A.
Int J Oral Maxillofac Surg, 2022 Mar, PMID: 34456081 DOI: 10.1016/j.ijom.2021.07.012

– Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome.
Motta M, Solman M, Bonnard AA, Kuechler A, Pantaleoni F, Priolo M, Chandramouli B, Coppola S, Pizzi S, Zara E, Ferilli M, Kayserili H, Onesimo R, Leoni C, Brinkmann J, Vial Y, Kamphausen SB, Thomas-Teinturier C, Guimier A, Cordeddu V, Mazzanti L, Zampino G, Chillemi G, Zenker M, Cavé H, Hertog J, Tartaglia M.
Hum Mol Genet, 2022 Mar 26, PMID: 35348676 DOI: 10.1093/hmg/ddac071

– 16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome mapping and whole genome sequencing.
Nicolle R, Siquier-Pernet K, Rio M, Guimier A, Ollivier E, Nitschke P, Bole- Feysot C, Romana S, Hastie A, Cantagrel V, Malan V.
Eur J Hum Genet, 2022 Apr 7, PMID: 35388186 DOI: 10.1038/s41431-022-01094-x

– Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.
Guimier A, Pontual L, Braddock SR, Torti E, Pérez-Jurado LA, Muñoz-Cabello P, Arumí M, Monaghan KG, Lee H, Wang LK, Pluym ID, Lynch SA, Stals K, Ellard S, Muller C, Houyel L, Cohen L, Lyonnet S, Bajolle F, Amiel J, Gordon CT.
Hum Mol Genet, 2022 Apr 9, PMID: 35396997 DOI: 10.1093/hmg/ddac084

– Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.
Dangles MT, Malan V, Dumas G, Romana S, Raoul O, Coste-Zeitoun D, Soufflet C, Vignolo-Diard P, Bahi-Buisson N, Barnérias C, Chemaly N, Desguerre I, Gitiaux C, Hully M, Bourgeois M, Guimier A, Rio M, Munnich A, Nabbout R, Kaminska A, Eisermann M.
Clin Neurophysiol, 2021 May, PMID: 33773177 DOI: 10.1016/j.clinph.2021.02.010

– PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families
Guimier A, Achleitner MT, Moreau de Bellaing A, Edwards M, de Pontual L, Mittal K, Dunn KE, Grove ME, Tysoe CJ, Dimartino C, Cameron J, Kanthi A, Shukla A, van den Broek F, Chatterjee D, Alston CL, Knowles CV, Brett L, Till JA, Homfray T, French P, Spentzou G, Elserafy NA, Lichkus KS, Sankaran BP, Kennedy HL, George PM, Kidd A, Wortmann SB, Fisk DG, Koopmann TT, Rafiq MA, Merker JD, Parikh S, Ahimaz P, Weintraub RG, Ma AS, Turner C, Ellaway CJ, Phillips LK, Thorburn DR, Chung WK, Kana SL, Faye-Petersen OM, Thompson ML, Janin A, McLeod K, McGowan R, McFarland R, Girisha KM, Morris-Rosendahl DJ, Hurst ACE, Turner CLS, Hamilton RM, Taylor RW, Bajolle F, Gordon CT, Amiel J, Mayr JA, Doudney K.
Genet Med, 2021 Dec, PMID: 34400813 PMCID: PMC8629752 DOI: 10.1038/s41436-021-01296-6

– Reply: MN1 gene loss-of-function mutation causes cleft palate in a pedigree.
Nancy Vegas, Karen Low, Christopher C Y Mak, Jasmine L F Fung, Anne V Hing, Brian H Y Chung, Dan Doherty, Jeanne Amiel, Christopher T Gordon
Brain, 2021 Mar 3, PMID: 33351141 DOI: 10.1093/brain/awaa432

– Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.
Na Chen, Stanislas Lyonnet, Michel Polak, Carla Rosenberg, Irene Dingeldein, Ximena Bonilla, Christelle Borel, Richard A Gibbs, Jennifer E Dietrich, Antigone S Dimas, Stylianos E Antonarakis 28, Sara Y Brucker, James R Lupski, Nan Wu, Lan Zhu
Am J Hum Genet, 2021 Feb 4, PMID: 33434492 PMCID: PMC7896104 DOI: 10.1016/j.ajhg.2020.12.014

– Valuing genetic and genomic testing in France: current challenges and latest evidence.
Catherine Lejeune, Ines F Amado, DEFIDIAG study group, FHU Translad and Aviesan
J Community Genet, 2021 Jan 16, PMID: 33453057 DOI: 10.1007/s12687-020-00503-2

– Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine.
Víctor Faundes, Martin D Jennings, Siobhan Crilly, Sarah Legraie, Sarah E Withers, Sara Cuvertino, Sally J Davies, Andrew G L Douglas, Andrew E Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A Cross, Carol J Saunders, Bonnie R Sullivan, Jorge L Granadillo, Christopher T Gordon, Paul R Kasher, Graham D Pavitt, Siddharth Banka
Nat Commun, 2021 Feb 5, PMID: 33547280 PMCID: PMC7864902 DOI: 10.1038/s41467-021-21053-2

– Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Guillaume Dorval, Cécile Jeanpierre, Vincent Morinière, Carole Tournant, Bettina Bessières, Tania Attié-Bittach, Jeanne Amiel, Emmanuel Spaggari, Yves Ville, Elodie Merieau, Marie-Claire Gubler, Sophie Saunier, Laurence Heidet
Pediatr Nephrol, 2021 Aug, PMID: 33580824 DOI: 10.1007/s00467-021-04953-9

– Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.
Romain Duval, Gaël Nicolas, Alexandra Willemetz, Yoshiko Murakami, Mahmoud Mikdar, Cedric Vrignaud, Hisham Megahed, Jean-Pierre Cartron, Cecile Masson, Samer Wehbi, Bérengere Koehl, Marie Hully, Karine Siquier, Nicole Chemlay, Agnes Rotig, Stanislas Lyonnet, Yves Colin, Giulia Barcia, Vincent Cantagrel, Caroline Le Van Kim, Olivier Hermine, Taroh Kinoshita, Thierry Peyrard, Slim Azouzi
Blood, 2021 Jul 1, PMID: 33763700 DOI: 10.1182/blood.2020009810

– Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.
M-T Dangles, V Malan, G Dumas, S Romana, O Raoul, D Coste-Zeitoun, C Soufflet, P Vignolo-Diard, N Bahi-Buisson, C Barnérias, N Chemaly, I Desguerre, C Gitiaux, M Hully, M Bourgeois, A Guimier, M Rio, A Munnich, R Nabbout, A Kaminska, M Eisermann
Clin Neurophysiol, 2021 May, PMID: 33773177 DOI: 10.1016/j.clinph.2021.02.010

– Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Maya Chopra, Maria Iascone, Anna Cereda, Gemma Poke, Véronique Abadie, Christel Chalouhi, Padmini Parthasarathy, Benjamin J Halliday, Stephen P Robertson, Stanislas Lyonnet, Jeanne Amiel, Christopher T Gordon
Am J Hum Genet, 2021 Jun 3, PMID: 33909992 PMCID: PMC8206162 DOI: 10.1016/j.ajhg.2021.04.007

– Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Sukhleen Kour, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S Stolerman, Sarah S Barnett, Maha S Zaki, Jan Senderek, Udai Bhan Pandey
Nat Commun, 2021 May 7, PMID: 33963192 PMCID: PMC8105379 DOI: 10.1038/s41467-021-22627-w

– Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Alban Ziegler, Rémi Duclaux-Loras, Céline Revenu, Fabienne Charbit-Henrion, Stanislas Lyonnet, Ludovic Martin, Frank Ruemmele, Dominique Bonneau, Nadine Cerf-Bensussan, Filippo Del Bene, Marianna Parlato
Am J Hum Genet, 2021 Jun 3, PMID: 34010604 PMCID: PMC8206386 DOI: 10.1016/j.ajhg.2021.04.020

– Expanding the clinical spectrum of mosaic BRAF skin phenotypes.
A Sorlin, V Carmignac, J Amiel, O Boccara, S Fraitag, A Maruani, M Theiler, L Weibel, Y Duffourd, C Philippe, C Thauvin-Robinet, L Faivre, J-B Rivière, P Vabres, P Kuentz
J Eur Acad Dermatol Venereol, 2021 Oct, PMID: 34051131 DOI: 10.1111/jdv.17413

– Correspondence on \ »De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females\ » by Polla et al.
Florence Riccardi, Alexandre Astier, Margot Grisval, Arnaud Maillard, Vincent Michaud, Catherine Badens, Christopher T Gordon, Aurélien Trimouille, Laurence Faivre, Jeanne Amiel, Sabine Sigaudy, Svetlana Gorokhova
Genet Med, 2021 Oct, PMID: 34079076 DOI: 10.1038/s41436-021-01208-8

– PRICKLE2 revisited-further evidence implicating PRICKLE2 in neurodevelopmental disorders.
Allan Bayat, Sumaiya Iqbal, Kim Borredy, Jeanne Amiel, Christiane Zweier, Guilia Barcia, Cornelia Kraus, Heike Weyhreter, Alexander G Bassuk, Maya Chopra, Guido Rubboli, Rikke S Møller
Eur J Hum Genet, 2021 Aug, PMID: 34092786 PMCID: PMC8385026 DOI: 10.1038/s41431-021-00912-y

– 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France.
Claude Messiaen, Caroline Racine, Ahlem Khatim, Louis Soussand, Sylvie Odent, Didier Lacombe, Sylvie Manouvrier, Patrick Edery, Sabine Sigaudy, David Geneviève, Christel Thauvin-Robinet, Laurent Pasquier, Florence Petit, Massimiliano Rossi, Marjolaine Willems, Tania Attié-Bitach, Pierre-Henry Roux-Levy, Laurent Demougeot, Lilia Ben Slama, Paul Landais, the AnDDI-Rares network, Anne-Sophie Jannot, Christine Binquet, Arnaud Sandrin, …Laurence Faivre
Orphanet J Rare Dis, 2021 Aug 4, PMID: 34348744 PMCID: PMC8335940 DOI: 10.1186/s13023-021-01957-4

– Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.
Laura E. Kuil,Katherine C. MacKenzie,Clara S. Tang,Jonathan D. Windster,Thuy Linh Le,Anwarul Karim,Bianca M. de Graaf,Robert van der Helm,Yolande van Bever,Cornelius E. J. Sloots,Conny Meeussen,Dick Tibboel,Annelies de Klein, [ … ],Erwin Brosens
PLoS Genet, 2021 Aug 6, PMID: 34358225 PMCID: PMC8372947 DOI: 10.1371/journal.pgen.1009698

– A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
Eleonora Palagano, Christopher T Gordon, Paolo Uva, Dario Strina, Clémantine Dimartino, Anna Villa, Jeanne Amiel, Maria L Guion-Almeida, Siulan Vendramini-Pittoli, Nancy M Kokitsu-Nakata, Roseli M Zechi-Ceide, Cristina Sobacchi
Bone, 2021 Dec, PMID: 34400385 DOI: 10.1016/j.bone.2021.116152

– Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Suzanne Chartier, Lucile Boutaud, Edouard Le Guillou, Caroline Alby, Clarisse Billon, Anne-Elodie Millischer, Catherine Caillaud, Louise Galmiche, Charlotte Mechler, Pascale Sonigo, Nathalie Boddaert, Stanislas Lyonnet, Sophie Rondeau, Christine Bole-Feysot, Cécile Masson, Yves Ville, Philippe Roth, Isabelle Desguerre, Férechté Encha-Razavi, Tania Attie-Bitach
Birth Defects Res, 2021 Nov, PMID: 34491000 DOI: 10.1002/bdr2.1950

– Genetics of craniofacial malformations.
Ariane Schmetz, Jeanne Amiel, Dagmar Wieczorek
Semin Fetal Neonatal Med, 2021 Dec, PMID: 34561177 DOI: 10.1016/j.siny.2021.101290

– Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients.
Béatrice Thouvenin, Véronique Soupre, Marie-Anne Caillaud, Charlotte Henry-Mestelan, Christel Chalouhi, Bachar Houssamo, Cécile Chapuis, Katia Lind, Aurélie Royer, Nancy Vegas, Jeanne Amiel, Gérard Couly, Arnaud Picard, Laurence Vaivre-Douret, Véronique Abadie
Orphanet J Rare Dis, 2021 Oct 20, PMID: 34670591 PMCID: PMC8527704 DOI: 10.1186/s13023-021-02072-0

– TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Jean Marie Delalande, Nandor Nagy, Conor J McCann, Dipa Natarajan, Julie E Cooper, Gabriela Carreno, David Dora, Alison Campbell, Nicole Laurent, Polychronis Kemos, Sophie Thomas, Caroline Alby, Tania Attié-Bitach, Stanislas Lyonnet, Malcolm P Logan, Allan M Goldstein, Megan G Davey, Robert M W Hofstra, Nikhil Thapar, Alan J Burns
Front Mol Neurosci, 2021 Dec 23, PMID: 35002618 PMCID: PMC8733242 DOI: 10.3389/fnmol.2021.757646

– Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study.
Christine Binquet, Catherine Lejeune, Laurence Faivre, Marion Bouctot, Marie-Laure Asensio, Alban Simon, Jean-François Deleuze, Anne Boland, Francis Guillemin, Valérie Seror, Christelle Delmas, Hélène Espérou, Yannis Duffourd, Stanislas Lyonnet, Sylvie Odent, Delphine Heron, Damien Sanlaville, Thierry Frebourg, Bénédicte Gerard, Hélène Dollfus
Front Genet, 2022 Feb 1, PMID: 35178068 PMCID: PMC8845475 DOI: 10.3389/fgene.2021.766964

– Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Thuy-Linh Le, Louise Galmiche, Jonathan Levy, Pim Suwannarat, Debby Mei Hellebrekers, Khomgrit Morarach, Franck Boismoreau, Tom Ej Theunissen, Mathilde Lefebvre, Anna Pelet, Jelena Martinovic, Antoinette Gelot, Fabien Guimiot, Amanda Calleroz, Cyril Gitiaux, Marie Hully, Olivier Goulet, Christophe Chardot, Severine Drunat, Yline Capri, Christine Bole-Feysot, Patrick Nitschké, Sandra Whalen, Linda Mouthon, Holly E Babcock, Robert Hofstra, Irenaeus Fm de Coo, Anne-Claude Tabet, Thierry J Molina, Boris Keren, Alice Brooks, Hubert Jm Smeets, Ulrika Marklund, Christopher T Gordon, Stanislas Lyonnet, Jeanne Amiel, Nadège Bondurand
J Clin Invest, 2021 Mar 15, PMID: 33497358 PMCID: PMC7954599 DOI: 10.1172/JCI145837

– MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis
Mak CCY, Doherty D, Lin AE, Vegas N, Cho MT, Viot G, Dimartino C, Weisfeld-Adams JD, Lessel D, Joss S, Li C, Gonzaga-Jauregui C, Zarate YA, Ehmke N, Horn D, Troyer C, Kant SG, Lee Y, Ishak GE, Leung G, Barone Pritchard A, Yang S, Bend EG, Filippini F, Roadhouse C, Lebrun N, Mehaffey MG, Martin PM, Apple B, Millan F, Puk O, Hoffer MJV, Henderson LB, McGowan R, Wentzensen IM, Pei S, Zahir FR, Yu M, Gibson WT, Seman A, Steeves M, Murrell JR, Luettgen S, Francisco E, Strom TM, Amlie-Wolf L, Kaindl AM, Wilson WG, Halbach S, Basel-Salmon L, Lev-El N, Denecke J, Vissers LELM, Radtke K, Chelly J, Zackai E, Friedman JM, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics, Reid RR, Devriendt K, Chae JH, Stolerman E, McDougall C, Powis Z, Bienvenu T, Tan TY, Orenstein N, Dobyns WB, Shieh JT, Choi M, Waggoner D, Gripp KW, Parker MJ, Stoler J, Lyonnet S, Cormier-Daire V, Viskochil D, Hoffman TL, Amiel J, Chung BHY, Gordon CT.
Brain, 2020 Jan 1, PMID: 31834374 PMCID: PMC7962909 DOI: 10.1093/brain/awz379

– Bi-allelic variations of SMO in humans cause a broad spectrum of developmental anomalies due to abnormal Hedgehog signaling 
Le TL, Sribudiani Y, Dong X, Huber C, Kois C, Baujat G, Gordon CT, Mayne V, Galmiche L, Serre V, Goudin N, Zarhrate M, Bole-Feysot C, Masson C, Nitschké P, Verheijen FW, Pais L, Pelet A, Sadedin S,  Pugh JA, Shur N, White SM, El Chehadeh S, Christodoulou J, Cormier-Daire V, Hofstra RMW, Lyonnet S, Tan TY, Attié-Bitach T, Kerstjens-Frederikse WS, Amiel J, Thomas S.
Am J Hum Genet, 2020 Jun 4, PMID: 32413283 PMCID: PMC7273534 DOI: 10.1016/j.ajhg.2020.04.010

– Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.
Véronique Abadie, Priscilla Hamiaux, Stéphanie Ragot, Marine Legendre, Gaelle Malecot, Alexia Burtin, Tania Attie-Bitach, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier & Laurence Vaivre-Douret
Orphanet J Rare Dis, 2020 Jun 3, PMID: 32493418 PMCID: PMC7268350 DOI: 10.1186/s13023-020-01421-9

– Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Emmanuelle Ranza, Anne Guimier, Alain Verloes, Yline Capri, Charles Marques, Martine Auclair, Michèle Mathieu-Dramard, Gilles Morin, Julien Thevenon, Laurence Faivre, Christel Thauvin-Robinet, A. Micheil Innes, David A. Dyment, Corinne Vigouroux, Jeanne Amiel
Clin Genet, 2020 Jul, PMID: 32233106 DOI: 10.1111/cge.13746

– Scurvy: A New Old Cause of Skeletal Pain in Young Children.
Christel Chalouhi, Nayla Nicolas, Nancy Vegas, Soraya Matczak, Houmam El Jurdi, Nathalie Boddaert, Véronique Abadie
Front Pediatr, 2020 Jan 31, PMID: 32083038 PMCID: PMC7006051 DOI: 10.3389/fped.2020.00008

– Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2.
Audrey Lamouroux, Tania Attie-Bitac, Jelena Martinovic, Marianne Leruez-Ville, Yves Ville
Am J Obstet Gynecol, 2020 Jul, PMID: 32376317 PMCID: PMC7196550 DOI: 10.1016/j.ajog.2020.04.039

– Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.
Clarisse Billon, Arnaud Molin, Céline Poirsier, Alix Clemenson, Coralie Dauge, Maude Grelet, Sabine Sigaudy, Sophie Patrier, Alice Goldenberg, Valérie Layet, Julia Tantau, Clémence Fleury, Agnès Liard, Alain Diguet, Radia Fritih, Eric Verspyck, John Rendu, Lucile Boutaud, Aude Tessier, Sophie Thomas, Ferechté Razavi, Amale Achaiaa, Nadia Elkhartoufi, Leila Hakkakian, Eglantine Magnin, Christine Bôle-Feysot, Cécile Masson, Yves Ville, Philippe Roth, Fabienne Prieur, Bettina Bessieres, Maryse Bonniere, Tania Attie-Bitach
Clin Genet, 2020 Sep, PMID: 32621347 DOI: 10.1111/cge.13801

– Hydrothorax in fetal cases of Opitz G/BBB diagnosis: Extending the phenotype?
Aude Tessier, Lucile Boutaud, Ange-Line Bruel, Christel Thauvin-Robinet, Philippe Roth, Valérie Malan, Marie-Paule Beaujard, Amale Achaiaa, Judite de Oliveira, Julie Steffann, Ferechte Encha-Razavi, Laurence Faivre, Bettina Bessières, Tania Attié-Bitach
Clin Genet, 2020 Dec, PMID: 32926417 DOI: 10.1111/cge.13840

– Conservative management is effective in unicystic ameloblastoma occurring from the neonatal period: A case report and a literature review.
Anne Morice, Cecilia Neiva, Monique Fabre, Paolo Spina, Fanélie Jouenne, Eva Galliani, Marie-Paule Vazquez, Arnaud Picard
Oral Surg Oral Med Oral Pathol Oral Radiol, 2020 May, PMID: 31562035 DOI: 10.1016/j.oooo.2019.08.009

– Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
Wenger TL, Bly RA, Wu N, Albert CM, Park J, Shieh J, Chenbhanich J, Heike CL, Adam MP, Chang I, Sun A, Miller DE, Beck AE, Gupta D, Boos MD, Zackai EH, Everman D, Ganapathi S, Wilson M, Christodoulou J, Zarate YA, Curry C, Li D, Guimier A, Amiel J, Hakonarson H, Webster R, Bhoj EJ, Perkins JA, Dahl JP, Dobyns WB.
Am J Med Genet A, 2020 Jul, PMID: 32500973 DOI: 10.1002/ajmg.a.61615

– De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T, Clayton-Smith J, Cogné B, Cusco I, Duplomb L, De Bont E, Duffourd Y, Duijkers F, Elpeleg O, Fattal A, Geneviève D, Guillen Sacoto MJ, Guimier A, Harris DJ, Hempel M, Isidor B, Jouan T, Kuentz P, Koshimizu E, Lichtenbelt K, Loik Ramey V, Maik M, Miyakate S, Murakami Y, Pasquier L, Pedro H, Simone L, Sondergaard-Schatz K, St-Onge J, Thevenon J, Valenzuela I, Abou Jamra R, van Gassen K, van Haelst MM, van Koningsbruggen S, Verdura E, Whelan Habela C, Zacher P, Rivière JB, Thauvin-Robinet C, Betschinger J, Faivre L.
J Med Genet, 2020 Dec, PMID: 32409512 DOI: 10.1136/jmedgenet-2019-106508

– A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.
Guimier, A ; Gordon, CT ; Hully, M ; Blauwblomme, T ; Minard-Colin, V ; Bole-Feysot, C & al
Am J Med Genet A, 2019 Jul, PMID: 31004414 DOI: 10.1002/ajmg.a.61151

– Diagnostic criteria in Pai syndrome: results of a case series and a literature review.
Morice, A ; Galliani, E ; Amiel, J ; Rachwalski, M ; Neiva, C ; Thauvin-Robinet, C & al
Int J Oral Maxillofac Surg, 2019 Mar, PMID: 30195458 DOI: 10.1016/j.ijom.2018.08.010

– PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Pelet, A ; Skopova, V ; Steuerwald, U ; Baresova, V ; Zarhrate, M ; Plaza, JM & al
Hum Mol Genet, 2019 Nov 15, PMID: 31600779 DOI: 10.1093/hmg/ddz237

– [Child psychiatry interventions in patients with 22q11 deletion syndrome: From treatment to prevention].
Novo, A ; Woestelandt, L ; Rousselot-Pailley, B ; Leitgel, M ; Eutrope, J ; Rio, M & al
Encephale, 2019 Apr, PMID: 30470499 DOI: 10.1016/j.encep.2018.09.011

– Contribution of a better maxillofacial phenotype in Silver-Russell syndrome to define a better orthodontics and surgical management.
Vo Quang, S ; Galliani, E ; Eche, S ; Tomat, C ; Fauroux, B ; Picard, A & al
J Stomatol Oral Maxillofac Surg, 2019 Apr, PMID: 30396025 DOI: 10.1016/j.jormas.2018.10.011

– Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome.
Seror, V ; L » »Haridon, O ; Bussières, L ; Malan, V ; Fries, N ; Vekemans, M & al
JAMA Netw Open, 2019 Mar 1, PMID: 30924894 PMCID: PMC6450316 DOI: 10.1001/jamanetworkopen.2019.1062

– Fetal MRI findings in a retrospective cohort of 26 cases of prenatally diagnosed CHARGE syndrome individuals.
Millischer, AE ; Sonigo, P ; Attie, T ; Spaggiari, E ; O » »Gorman, N ; Bessieres, B & al
Prenat Diagn, 2019 Aug, PMID: 30715739 DOI: 10.1002/pd.5429

– The use of three-dimensional reconstructions of CT scans to evaluate anomalies of hyoid bone in Pierre Robin sequence: A retrospective study.
Giudice, A ; Belhous, K ; Barone, S ; Soupre, V ; Morice, A ; Vazquez, MP & al
J Stomatol Oral Maxillofac Surg, 2020 Sep, PMID: 31499229 DOI: 10.1016/j.jormas.2019.08.014

– [Isolated right aortic arch: prenatal diagnosis characteristics, pregnancy outcomes and systematic review].
Bitumba, I ; Lévy, M ; Bernard, JP ; Ville, Y ; Salomon, LJ
Gynecol Obstet Fertil Senol, 2019 Oct, PMID: 31494313 DOI: 10.1016/j.gofs.2019.09.002

– SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite.
Dion, C ; Roche, S ; Laberthonnière, C ; Broucqsault, N ; Mariot, V ; Xue, S & al
Nucleic Acids Res, 2019 Apr 8, PMID: 30698748 PMCID: PMC6451109 DOI: 10.1093/nar/gkz005

– De Novo Mutations Affecting the Catalytic Cα Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.
Reynhout, S ; Jansen, S ; Haesen, D ; van Belle, S ; de Munnik, SA ; Bongers, EMHF & al
Am J Hum Genet, 2019 Jan 3, PMID: 30595372 PMCID: PMC6323609 DOI: 10.1016/j.ajhg.2018.12.002

– ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Carapito, R ; Ivanova, EL ; Morlon, A ; Meng, L ; Molitor, A ; Erdmann, E & al
Am J Hum Genet, 2019 Feb 7, PMID: 30639322 PMCID: PMC6369415 DOI: 10.1016/j.ajhg.2018.12.007

– Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Cogné, B ; Ehresmann, S ; Beauregard-Lacroix, E ; Rousseau, J ; Besnard, T ; Garcia, T & al
Am J Hum Genet, 2019 Mar 7, PMID: 30827496 PMCID: PMC6407527 DOI: 10.1016/j.ajhg.2019.01.010

– De novo and biallelic DEAF1 variants cause a phenotypic spectrum.
Nabais Sá, MJ ; Jensik, PJ ; McGee, SR ; Parker, MJ ; Lahiri, N ; McNeil, EP & al
Genet Med, 2019 Sep, PMID: 30923367 DOI: 10.1038/s41436-019-0473-6

– Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Schluth-Bolard, C ; Diguet, F ; Chatron, N ; Rollat-Farnier, PA ; Bardel, C ; Afenjar, A & al
J Med Genet, 2019 Aug, PMID: 30923172 DOI: 10.1136/jmedgenet-2018-105778

– Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Lahrouchi, N ; George, A ; Ratbi, I ; Schneider, R ; Elalaoui, SC ; Moosa, S & al
Nat Commun, 2019 Mar 12, PMID: 30862798 PMCID: PMC6414540 DOI: 10.1038/s41467-019-08547-w

– Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.
Bessis, D ; Morice-Picard, F ; Bourrat, E ; Abadie, C ; Aouinti, S ; Baumann, C & al
Br J Dermatol, 2019 Jan, PMID: 30141192 DOI: 10.1111/bjd.17077

– Comment on: Monogenic mimics of Behçet »s disease in the young.
Aeschlimann, FA ; Stolzenberg, MC ; Rieux-Laucat, F ; Bustaffa, M ; Quartier, P ; Lyonnet, S & al
Rheumatology (Oxford), 2020 Nov 1, PMID: 31725163 DOI: 10.1093/rheumatology/kez543

– Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.
Cohen, E ; Belkacem, S ; Fedala, S ; Collot, N ; Khallouf, E ; Dastot, F & al
Hum Mutat, 2019 Nov, PMID: 31231873 DOI: 10.1002/humu.23847

– Anatomical and functional abnormalities on MRI in kabuki syndrome.
Boisgontier, J ; Tacchella, JM ; Lemaître, H ; Lehman, N ; Saitovitch, A ; Gatinois, V & al
Neuroimage Clin, 2019, PMID: 30497982 PMCID: PMC6413468 DOI: 10.1016/j.nicl.2018.11.020

– Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Nellåker, C ; Alkuraya, FS ; Baynam, G ; Bernier, RA ; Bernier, FPJ ; Boulanger, V & al
Front Genet, 2019 Jul 29, PMID: 31417602 PMCID: PMC6681681 DOI: 10.3389/fgene.2019.00611

– Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
Chen, X ; Garcelon, N ; Neuraz, A ; Billot, K ; Lelarge, M ; Bonald, T & al
J Biomed Inform, 2019 Dec, PMID: 31622800 DOI: 10.1016/j.jbi.2019.103308

– Oral health related quality of life of children and adolescents affected by rare orofacial diseases: a questionnaire-based cohort study.
Friedlander, L ; Berdal, A ; Boizeau, P ; Licht, BA ; Manière, MC ; Picard, A & al
J Rare Dis, 2019 Jun 4, PMID: 31164137 PMCID: PMC6549379 DOI: 10.1186/s13023-019-1109-2

– SOX3 duplication: A genetic cause to investigate in fetuses with neural tube defects.
Hureaux, M ; Ben Miled, S ; Chatron, N ; Coussement, A ; Bessières, B ; Egloff, M & al
Prenat Diagn, 2019 Oct, PMID: 31299102 DOI: 10.1002/pd.5523

– De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development
Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmüller J, Dion C, Thiele H, Gurzau AD, Nürnberg P, Meschede D, Mühlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschké P, Ragge N, Lévy N, Tunçbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B.
Nat Genet, 2017 Feb, PMID: 28067911 DOI: 10.1038/ng.3765

– Biallelic PPA2 mutations cause sudden unexpected cardiac arrest in infancy
Guimier A, Gordon CT, Godard F, Ravenscroft G, Oufadem M, Vasnier C, Rambaud C, Nitschke P, Bole-Feysot C, Masson C, Dauger S, Longman C, Laing NG, Kugener B, Bonnet D, Bouvagnet P, Di Filippo S, Probst V, Redon R, Charron P, Rötig A, Lyonnet S, Dautant A, de Pontual L, di Rago JP, Delahodde A, Amiel J.
Am J Hum Genet, 2016 Sep 1, PMID: 27523598 PMCID: PMC5010643 DOI: 10.1016/j.ajhg.2016.06.021

– Mutations in the endothelin receptor type a cause mandibulofacial dysostosis with alopecia
Gordon CT, Weaver KN, Zechi-Ceide RM, Madsen EC, Tavares ALP, Oufadem M, Kurihara Y, Adameyko I, Picard A, Breton S, Pierrot S, Biosse-Duplan M, Voisin N, Masson C, Bole-Feysot C, Nitschké P, Delrue MA, Guion-Almeida ML, Padilha Moura P, Gamba Garib D, Munnich A, Ernfors P, Kurihara H, Hufnagel RB, Saal HM, Weaver DD, Katsanis N, Lyonnet S, Golzio C, Clouthier DE, Amiel J.
Am J Hum Genet, 2015 Apr 2, PMID: 25772936 PMCID: PMC4385188 DOI: 10.1016/j.ajhg.2015.01.015

– MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates
Guimier A, Gabriel GC, Bajolle F, Tsang M, Liu H, Noll A, Schwartz M, El Malti R, Smith LD, Klena NT, Jimenez G, Miller NA, Oufadem M, Moreau de Bellaing A, Yagi H, Saunders CJ, Baker CN, Di Filippo S, Peterson KA, Thiffault I, Bole-Feysot C, Cooley LD, Farrow EG, Masson C, Schoen P, Deleuze JF, Nitschké P, Lyonnet S, de Pontual L, Murray SA, Bonnet D, Kingsmore SF, Amiel J, Bouvagnet P, Lo CW, Gordon CT.
Nat Genet, 2015 Nov, PMID: 26437028 PMCID: PMC5620017 DOI: 10.1038/ng.3376

The extraordinary powers of the human body : The mysteries of our genes, the secrets of longevity.
France 2 | 08.31.2021

Michel Cymes and Adriana Karembeu question the role played by genes in longevity. With humor and candor, they interview specialists and conduct enlightening experiments. > Watch the documentary

Ondine, a rare genetic disease: these breathless children
Handicap.fr | 06.15.2021

One in 200,000 children are born with a severe breakdown in respiratory function called Ondine syndrome. Impossible to breathe alone during their sleep. In the absence of an existing treatment, the Imagine Institute wishes to speed up research. > Read more

AtmosR, Medetia and Imagine Institute launch collaboration to develop a treatment for Ondine syndrome
Imagine | 06.03.2021

Ondine syndrome is a rare and orphan disease that affects children from birth. The main symptom is severe failure of respiratory function. The PHOX2B gene, at the origin of 90% of these syndromes, was discovered in 2003 by the team of Professor Jeanne Amiel. The companies AtmosR and Medetia – two start-ups located at the Imagine Institute (Inserm / Hôpital Necker-Enfants Malades AP-HP / University of Paris) – join forces with Imagine to accelerate fundamental research work and rapidly develop a treatment for patients. The goal of this collaboration is to identify the most promising molecules for a future therapeutic solution. > Read more

A new gene responsible for developmental anomalies
Imagine | 05.18.2020

The team of Pr Jeanne Amiel and Stanislas Lyonnet have just identified a new Achilles heel in the Hedgehog signaling pathway, essential during embryonic development. This work is the result of collaboration with Professors Attié-Bitach and Cormier-Daire at Imagine and several international teams. > Read more

We found the gene responsible for the lack of a nose
Sciences et avenir | 02.08.2017

An international collaboration has just identified a gene responsible for arhinia, the absence of a nose. > Read more