Valérie Cormier-Daire

Affiliations

INSERM UMR1163, Imagine Institute, Université de Paris, Paris, France.
Department of Clinical Genetics and Reference Centre for Constitutional Bone Diseases, Necker Hospital for Sick Children, AP-HP, Paris, France.

Publications (100)

Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.

Journal of clinical immunology

Avec: Mathieu Fusaro , Aline Vincent , Martin Castelle , Jérémie Rosain , Benjamin Fournier , Maria Veiga-da-Cunha , Takfarinas Kentache , Jill Serre , Catherine Fallet-Bianco , Anne-Lise Delezoide , Laurent Renesme , Fanny Morice Picard , Eulalie Lasseaux , Nathalie Aladjidi , Nathalie Seta , Emile van Schaftingen , Bénédicte Neven , Despina Moshous , Sophie Blesson , Capucine Picard

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

European journal of human genetics : EJHG

Avec: Muriel Holder-Espinasse , Aleksander Jamsheer , Fabienne Escande , Joris Andrieux , Florence Petit , Anna Sowinska-Seidler , Magdalena Socha , Anna Jakubiuk-Tomaszuk , Marion Gerard , Michèle Mathieu-Dramard , Alain Verloes , Annick Toutain , Ghislaine Plessis , Philippe Jonveaux , Clarisse Baumann , Albert David , Chantal Farra , Estelle Colin , Sébastien Jacquemont , Annick Rossi , Sahar Mansour , Neeti Ghali , Anne Moncla , Nayana Lahiri , Jane Hurst , Elena Pollina , Christine Patch , Joo Wook Ahn , Anne-Sylvie Valat , Aurélie Mezel , Philippe Bourgeot , David Zhang , Sylvie Manouvrier-Hanu

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.

European journal of medical genetics

Avec: Emilien Faudi , Elise Brischoux-Boucher , Céline Huber , Thibaud Dabudyk , Marion Lenoir , Geneviève Baujat , Caroline Michot , Lionel Van Maldergem , Juliette Piard

Healthcare trajectory of children with rare bone disease attending pediatric emergency departments.

Orphanet journal of rare diseases

Avec: David Dawei Yang , Geneviève Baujat , Antoine Neuraz , Nicolas Garcelon , Claude Messiaen , Arnaud Sandrin , Gérard Cheron , Anita Burgun , Zagorka Pejin , François Angoulvant

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome.

The Journal of experimental medicine

Avec: Yin-Huai Chen , Giedre Grigelioniene , Phillip T Newton , Jacob Gullander , Maria Elfving , Anna Hammarsjö , Dominyka Batkovskyte , Hessa S Alsaif , Wesam I Y Kurdi , Firdous Abdulwahab , Veerabahu Shanmugasundaram , Luke Devey , Séverine Bacrot , Jana Brodszki , Celine Huber , Ben Hamel , David Gisselsson , Nikos Papadogiannakis , Katarina Jedrycha , Barbara Gürtl-Lackner , Andrei S Chagin , Gen Nishimura , Dominik Aschenbrenner , Fowzan S Alkuraya , Arian Laurence , Holm H Uhlig

Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature.

Bone reports

Avec: Shuaa Basalom , Mélissa Fiscaletti , Valancy Miranda , Céline Huber , Guillaume Couture , Régen Drouin , Élise Monceau , Sandrine Wavrant , Johanne Dubé , Outi Mäkitie , Philippe M Campeau

The first European consensus on principles of management for achondroplasia.

Orphanet journal of rare diseases

Avec: Valerie Cormier-Daire , Moeenaldeen AlSayed , Tawfeg Ben-Omran , Sérgio Bernardo de Sousa , Silvio Boero , Svein O Fredwall , Encarna Guillen-Navarro , Melita Irving , Christian Lampe , Mohamad Maghnie , Geert Mortier , Zagorka Peijin , Klaus Mohnike

SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.

Human genetics

Avec: Zoé Durin , Johanne Dubail , Aurore Layotte , Dominique Legrand , François Foulquier

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies.

Therapeutic advances in musculoskeletal disease

Avec: Ravi Savarirayan , Josep Maria De Bergua , Paul Arundel , Helen McDevitt , Valerie Cormier-Daire , Vrinda Saraff , Mars Skae , Borja Delgado , Antonio Leiva-Gea , Fernando Santos-Simarro , Jean Pierre Salles , Marc Nicolino , Massimiliano Rossi , Peter Kannu , Michael B Bober , John Phillips , Howard Saal , Paul Harmatz , Christine Burren , Garrett Gotway , Terry Cho , Elena Muslimova , Richard Weng , Daniela Rogoff , Julie Hoover-Fong , Melita Irving

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

American journal of human genetics

Avec: Katherine A Wood , R Spencer Tong , Marialetizia Motta , Viviana Cordeddu , Eleanor R Scimone , Stephen J Bush , Dale W Maxwell , Eleni Giannoulatou , Viviana Caputo , Alice Traversa , Cecilia Mancini , Giovanni B Ferrero , Francesco Benedicenti , Paola Grammatico , Daniela Melis , Katharina Steindl , Nicola Brunetti-Pierri , Eva Trevisson , Andrew Om Wilkie , Angela E Lin , Valerie Cormier-Daire , Stephen Rf Twigg , Marco Tartaglia , Anne Goriely

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.

Journal of medical genetics

Avec: Marion Aubert-Mucca , Céline Huber , Genevieve Baujat , Caroline Michot , Mohammed Zarhrate , Marc Bras , Lucile Boutaud , Valérie Malan , Tania Attie-Bitach , Auteur inconnu , Valerie Cormier-Daire

Clinical heterogeneity of NADSYN1-associated VCRL syndrome.

Clinical genetics

Avec: Marion Aubert-Mucca , Caroline Janel , Valérie Porquet-Bordes , Olivier Patat , Renaud Touraine , Thomas Edouard , Caroline Michot , Aude Tessier , Tania Attie-Bitach , Geneviève Baujat

Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.

Advances in therapy

Avec: Oliver Semler , Ekkehart Lausch , Michael B Bober , Ricki Carroll , Sérgio B Sousa , David Deyle , Maha Faden , Gabriele Hartmann , Aaron J Huser , Janet M Legare , Klaus Mohnike , Tilman R Rohrer , Frank Rutsch , Pamela Smith , Andre M Travessa , Angela Verardo , Klane K White , William R Wilcox , Julie Hoover-Fong

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.

Journal of medical genetics

Avec: Pauline Marzin , Sophie Rondeau , Jean-Luc Alessandri , Klaus Dieterich , Carine le Goff , Clémentine Mahaut , Sandra Mercier , Caroline Michot , Oana Moldovan , Gianmaria Miolo , Massimiliano Rossi , Julien Van-Gils , Christine Francannet , Matthieu P Robert , Jean-Philippe Jaïs , Céline Huber , Valerie Cormier-Daire

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.

Scientific reports

Avec: Quentin Hennocq , Marjolaine Willems , Jeanne Amiel , Stéphanie Arpin , Tania Attie-Bitach , Thomas Bongibault , Thomas Bouygues , Pierre Corre , Klaus Dieterich , Maxime Douillet , Jean Feydy , Eva Galliani , Fabienne Giuliano , Stanislas Lyonnet , Arnaud Picard , Thantrira Porntaveetus , Marlène Rio , Flavien Rouxel , Vorasuk Shotelersuk , Annick Toutain , Kevin Yauy , David Geneviève , Roman H Khonsari , Nicolas Garcelon

Root resorptions induced by genetic disorders: A systematic review.

Oral diseases

Avec: Nicolas Dupre , Margot C Riou , Juliane Isaac , François Ferre , Stéphane Kerner , Muriel de La Dure-Molla , Nunthawan Nowwarote , Ana Carolina Acevedo , Benjamin P J Fournier

Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.

American journal of medical genetics. Part A

Avec: Pelin Ozlem Simsek-Kiper , Ekim Taskiran , Can Kosukcu , Umut Ece Arslan , Nazlı Gonc , Alev Ozon , Ayfer Alikasifoglu , Nurgun Kandemir , Gulen Eda Utine , Yasemin Alanay , Mehmet Alikasifoglu , Koray Boduroglu

Overgrowth syndromes - clinical and molecular aspects and tumour risk.

Nature reviews. Endocrinology

Avec: Frédéric Brioude , Annick Toutain , Eloise Giabicani , Edouard Cottereau , Irene Netchine

The influence of fronto-facial monobloc advancement on obstructive sleep apnea: An assessment of 109 syndromic craniosynostoses cases.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery

Avec: Roman Hossein Khonsari , Samer Haber , Giovanna Paternoster , Brigitte Fauroux , Marie-Paule Morisseau-Durand , Laurence Legeai-Mallet , Syril James , Quentin Hennocq , Eric Arnaud

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Brain : a journal of neurology

Avec: Christopher C Y Mak , Dan Doherty , Angela E Lin , Nancy Vegas , Megan T Cho , Géraldine Viot , Clémantine Dimartino , James D Weisfeld-Adams , Davor Lessel , Shelagh Joss , Chumei Li , Claudia Gonzaga-Jauregui , Yuri A Zarate , Nadja Ehmke , Denise Horn , Caitlin Troyer , Sarina G Kant , Youngha Lee , Gisele E Ishak , Gordon Leung , Amanda Barone Pritchard , Sandra Yang , Eric G Bend , Francesca Filippini , Chelsea Roadhouse , Nicolas Lebrun , Michele G Mehaffey , Pierre-Marie Martin , Benjamin Apple , Francisca Millan , Oliver Puk , Mariette J V Hoffer , Lindsay B Henderson , Ruth McGowan , Ingrid M Wentzensen , Steven Pei , Farah R Zahir , Mullin Yu , William T Gibson , Ann Seman , Marcie Steeves , Jill R Murrell , Sabine Luettgen , Elizabeth Francisco , Tim M Strom , Louise Amlie-Wolf , Angela M Kaindl , William G Wilson , Sara Halbach , Lina Basel-Salmon , Noa Lev-El , Jonas Denecke , Lisenka E L M Vissers , Kelly Radtke , Jamel Chelly , Elaine Zackai , Jan M Friedman , Michael J Bamshad , Deborah A Nickerson , Auteur inconnu , Russell R Reid , Koenraad Devriendt , Jong-Hee Chae , Elliot Stolerman , Carey McDougall , Zöe Powis , Thierry Bienvenu , Tiong Y Tan , Naama Orenstein , William B Dobyns , Joseph T Shieh , Murim Choi , Darrel Waggoner , Karen W Gripp , Michael J Parker , Joan Stoler , Stanislas Lyonnet , David Viskochil , Trevor L Hoffman , Jeanne Amiel , Brian H Y Chung , Christopher T Gordon

New perspectives on the treatment of skeletal dysplasia.

Therapeutic advances in endocrinology and metabolism

Avec: Pauline Marzin ,

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Avec: Alice Costantini , Jessica J Alm , Francesca Tonelli , Helena Valta , Céline Huber , Anh N Tran , Valentina Daponte , Nadi Kirova , Yong-Uk Kwon , Jung Yun Bae , Woo Yeong Chung , Shengjiang Tan , Yves Sznajer , Gen Nishimura , Tuomas Näreoja , Alan J Warren , Ok-Hwa Kim , Antonella Forlino , Tae-Joon Cho , Outi Mäkitie

Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.

International journal of molecular sciences

Avec: Alessandra Guasto ,

The critical role of the TB5 domain of fibrillin-1 in endochondral ossification.

Human molecular genetics

Avec: Laure Delhon , Zakaria Mougin , Jérémie Jonquet , Angélique Bibimbou , Johanne Dubail , Cynthia Bou-Chaaya , Nicolas Goudin , Wilfried Le Goff , Catherine Boileau , Carine Le Goff

Craniofacial growth and function in achondroplasia: a multimodal 3D study on 15 patients.

Orphanet journal of rare diseases

Avec: Anne Morice , Maxime Taverne , Sophie Eché , Lucie Griffon , Brigitte Fauroux , Nicolas Leboulanger , Vincent Couloigner , Geneviève Baujat , Arnaud Picard , Laurence Legeai-Mallet , Natacha Kadlub , Roman Hossein Khonsari

Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Avec: Johanne Dubail , Sophie Rondeau , Caroline Michot , Geneviève Baujat , Yline Capri , Julien Thévenon , Maelle Charpie , Zagorka Pejin , Gilles Phan , Céline Huber ,

Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study.

Orphanet journal of rare diseases

Avec: Ravi Savarirayan , Wagner Baratela , Thomas Butt , Melita Irving , Bradley S Miller , Klaus Mohnike , Keiichi Ozono , Ron Rosenfeld , Angelo Selicorni , Dominic Thompson , Klane K White , Michael Wright , Svein O Fredwall

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Avec: Madeline Louise Reilly , Noor Ul Ain , Mari Muurinen , Alice Tata , Céline Huber , Marleen Simon , Tayyaba Ishaq , Nick Shaw , Salla Rusanen , Minna Pekkinen , Wolfgang Högler , Maarten F C M Knapen , Myrthe van den Born , Sophie Saunier , Sadaf Naz , Alexandre Benmerah , Outi Makitie

Natural history of Myhre syndrome.

Orphanet journal of rare diseases

Avec: David Dawei Yang , Marlene Rio , Caroline Michot , Nathalie Boddaert , Wael Yacoub , Nicolas Garcelon , Briac Thierry , Damien Bonnet , Sophie Rondeau , Dominique Herve , Stephanie Guey , Francois Angoulvant , Valerie Cormier-Daire

Nosology of genetic skeletal disorders: 2023 revision.

American journal of medical genetics. Part A

Avec: Sheila Unger , Carlos R Ferreira , Geert R Mortier , Houda Ali , Débora R Bertola , Alistair Calder , Daniel H Cohn , Valerie Cormier-Daire , Katta M Girisha , Christine Hall , Deborah Krakow , Outi Makitie , Stefan Mundlos , Gen Nishimura , Stephen P Robertson , Ravi Savarirayan , David Sillence , Marleen Simon , V Reid Sutton , Matthew L Warman , Andrea Superti-Furga

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

European journal of human genetics : EJHG

Avec: Thomas Husson , François Lecoquierre , Gaël Nicolas , Anne-Claire Richard , Alexandra Afenjar , Séverine Audebert-Bellanger , Catherine Badens , Frédéric Bilan , Varoona Bizaoui , Anne Boland , Marie-Noëlle Bonnet-Dupeyron , Elise Brischoux-Boucher , Céline Bonnet , Marie Bournez , Odile Boute , Perrine Brunelle , Roseline Caumes , Perrine Charles , Nicolas Chassaing , Nicolas Chatron , Benjamin Cogné , Estelle Colin , Rodolphe Dard , Benjamin Dauriat , Julian Delanne , Jean-François Deleuze , Florence Demurger , Anne-Sophie Denommé-Pichon , Christel Depienne , Anne Dieux , Christèle Dubourg , Patrick Edery , Salima El Chehadeh , Laurence Faivre , Patricia Fergelot , Mélanie Fradin , Aurore Garde , David Geneviève , Brigitte Gilbert-Dussardier , Cyril Goizet , Alice Goldenberg , Evan Gouy , Anne-Marie Guerrot , Anne Guimier , Inès Harzalla , Delphine Héron , Bertrand Isidor , Didier Lacombe , Xavier Le Guillou Horn , Boris Keren , Alma Kuechler , Elodie Lacaze , Alinoë Lavillaureix , Daphné Lehalle , Gaëtan Lesca , James Lespinasse , Jonathan Levy , Stanislas Lyonnet , Godeliève Morel , Nolwenn Jean-Marçais , Sandrine Marlin , Luisa Marsili , Cyril Mignot , Sophie Nambot , Mathilde Nizon , Robert Olaso , Laurent Pasquier , Laurine Perrin , Florence Petit , Veronique Pingault , Amélie Piton , Fabienne Prieur , Audrey Putoux , Marc Planes , Sylvie Odent , Chloé Quélin , Sylvia Quemener-Redon , Mélanie Rama , Marlène Rio , Massimiliano Rossi , Elise Schaefer , Sophie Rondeau , Pascale Saugier-Veber , Thomas Smol , Sabine Sigaudy , Renaud Touraine , Frederic Tran Mau-Them , Aurélien Trimouille , Julien Van Gils , Clémence Vanlerberghe , Valérie Vantalon , Gabriella Vera , Marie Vincent , Alban Ziegler , Olivier Guillin , Dominique Campion , Camille Charbonnier

Osteogenesis Imperfecta: A study of the patient journey in 13 European countries.

Orphanet journal of rare diseases

Avec: Ingunn Westerheim , Valerie Cormier-Daire , Scott Gilbert , Sean O'Malley , Richard Keen

European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia.

Advances in therapy

Avec: Svein Fredwall , Moeenaldeen AlSayed , Tawfeg Ben-Omran , Silvio Boero , Brigitte Fauroux , Encarna Guillén-Navarro , Florian Innig , Philip Kunkel , Christian Lampe , Mohamad Maghnie , Klaus Mohnike , Geert Mortier , Zagorka Pejin , Marco Sessa , Sérgio B Sousa , Melita Irving

AI-based diagnosis and phenotype - Genotype correlations in syndromic craniosynostoses.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery

Avec: Quentin Hennocq , Giovanna Paternoster , Corinne Collet , Jeanne Amiel , Thomas Bongibault , Thomas Bouygues , Maxime Douillet , David J Dunaway , Nu Owase Jeelani , Lara S van de Lande , Stanislas Lyonnet , Juling Ong , Arnaud Picard , Alexander J Rickart , Marlène Rio , Silvia Schievano , Eric Arnaud , Nicolas Garcelon , Roman H Khonsari

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

American journal of human genetics

Avec: Thuy-Linh Le , Yunia Sribudiani , Xiaomin Dong , Céline Huber , Chelsea Kois , Geneviève Baujat , Christopher T Gordon , Valerie Mayne , Louise Galmiche , Valérie Serre , Nicolas Goudin , Mohammed Zarhrate , Christine Bole-Feysot , Cécile Masson , Patrick Nitschké , Frans W Verheijen , Lynn Pais , Anna Pelet , Simon Sadedin , John A Pugh , Natasha Shur , Susan M White , Salima El Chehadeh , John Christodoulou , R M W Hofstra , Stanislas Lyonnet , Tiong Yang Tan , Tania Attié-Bitach , Wilhelmina S Kerstjens-Frederikse , Jeanne Amiel , Sophie Thomas

Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.

Clinical genetics

Avec: Varoona Bizaoui , Caroline Michot , Geneviève Baujat , Cyril Amouroux , Sabine Baron , Yline Capri , Martine Cohen-Solal , Corinne Collet , Anne Dieux , David Geneviève , Bertrand Isidor , Sophie Monnot , Massimiliano Rossi , Anya Rothenbuhler , Elise Schaefer ,

Nosology and classification of genetic skeletal disorders: 2019 revision.

American journal of medical genetics. Part A

Avec: Geert R Mortier , Daniel H Cohn , Valerie Cormier-Daire , Christine Hall , Deborah Krakow , Stefan Mundlos , Gen Nishimura , Stephen Robertson , Luca Sangiorgi , Ravi Savarirayan , David Sillence , Andrea Superti-Furga , Sheila Unger , Matthew L Warman

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

American journal of human genetics

Avec: Lindsay C Burrage , John J Reynolds , Nissan Vida Baratang , Jennifer B Phillips , Jeremy Wegner , Ashley McFarquhar , Martin R Higgs , Audrey E Christiansen , Denise G Lanza , John R Seavitt , Mahim Jain , Xiaohui Li , David A Parry , Vandana Raman , David Chitayat , Ivan K Chinn , Alison A Bertuch , Lefkothea Karaviti , Alan E Schlesinger , Dawn Earl , Michael Bamshad , Ravi Savarirayan , Harsha Doddapaneni , Donna Muzny , Shalini N Jhangiani , Christine M Eng , Richard A Gibbs , Weimin Bi , Lisa Emrick , Jill A Rosenfeld , John Postlethwait , Monte Westerfield , Mary E Dickinson , Arthur L Beaudet , Emmanuelle Ranza , Celine Huber , Wei Shen , Rong Mao , Jason D Heaney , Jordan S Orange , Auteur inconnu , Auteur inconnu , Débora Bertola , Guilherme L Yamamoto , Wagner A R Baratela , Merlin G Butler , Asim Ali , Mehdi Adeli , Daniel H Cohn , Deborah Krakow , Andrew P Jackson , Melissa Lees , Amaka C Offiah , Colleen M Carlston , John C Carey , Grant S Stewart , Carlos A Bacino , Philippe M Campeau , Brendan Lee

Sleep-disordered breathing in children with mucolipidosis.

American journal of medical genetics. Part A

Avec: Laurence Tabone , Catherine Caillaud , Alessandro Amaddeo , Sonia Khirani , Caroline Michot , Vincent Couloigner , Anais Brassier , Valerie Cormier-Daire , Geneviève Baujat , Brigitte Fauroux

Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions.

Nature genetics

Avec: Patricia Heyn , Clare V Logan , Adeline Fluteau , Rachel C Challis , Tatsiana Auchynnikava , Carol-Anne Martin , Joseph A Marsh , Francesca Taglini , Fiona Kilanowski , David A Parry , Valerie Cormier-Daire , Chin-To Fong , Kate Gibson , Vivian Hwa , Lourdes Ibáñez , Stephen P Robertson , Giorgia Sebastiani , Juri Rappsilber , Robin C Allshire , Martin A M Reijns , Andrew Dauber , Duncan Sproul , Andrew P Jackson

Geleophysic and acromicric dysplasias: natural history, genotype-phenotype correlations, and management guidelines from 38 cases.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Pauline Marzin , Briac Thierry , Andrea Dancasius , Anne Cavau , Caroline Michot , Sophie Rondeau , Geneviève Baujat , Gilles Phan , Maryse Bonnière , Muriel Le Bourgeois , Diala Khraiche , Zagorka Pejin , Damien Bonnet , Christophe Delacourt ,

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.

Journal of medical genetics

Avec: Annie Laquerriere , Dana Jaber , Emanuela Abiusi , Jérome Maluenda , Dan Mejlachowicz , Alexandre Vivanti , Klaus Dieterich , Radka Stoeva , Loic Quevarec , Flora Nolent , Valerie Biancalana , Philippe Latour , Damien Sternberg , Yline Capri , Alain Verloes , Bettina Bessieres , Laurence Loeuillet , Tania Attie-Bitach , Jelena Martinovic , Sophie Blesson , Florence Petit , Claire Beneteau , Sandra Whalen , Florent Marguet , Jerome Bouligand , Delphine Héron , Géraldine Viot , Jeanne Amiel , Daniel Amram , Céline Bellesme , Martine Bucourt , Laurence Faivre , Pierre-Simon Jouk , Suonavy Khung , Sabine Sigaudy , Anne-Lise Delezoide , Alice Goldenberg , Marie-Line Jacquemont , Laetitia Lambert , Valérie Layet , Stanislas Lyonnet , Arnold Munnich , Lionel Van Maldergem , Juliette Piard , Fabien Guimiot , Pierre Landrieu , Pascaline Letard , Fanny Pelluard , Laurence Perrin , Marie-Hélène Saint-Frison , Haluk Topaloglu , Laetitia Trestard , Catherine Vincent-Delorme , Helge Amthor , Christine Barnerias , Alexandra Benachi , Eric Bieth , Elise Boucher , Valerie Cormier-Daire , Andrée Delahaye-Duriez , Isabelle Desguerre , Bruno Eymard , Christine Francannet , Sarah Grotto , Didier Lacombe , Fanny Laffargue , Marine Legendre , Dominique Martin-Coignard , André Mégarbané , Sandra Mercier , Mathilde Nizon , Luc Rigonnot , Fabienne Prieur , Chloé Quélin , Hanitra Ranjatoelina-Randrianaivo , Nicoletta Resta , Annick Toutain , Helene Verhelst , Marie Vincent , Estelle Colin , Catherine Fallet-Bianco , Michèle Granier , Romulus Grigorescu , Julien Saada , Marie Gonzales , Anne Guiochon-Mantel , Jean-Louis Bessereau , Marcel Tawk , Ivo Gut , Cyril Gitiaux , Judith Melki

CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.

Clinical genetics

Avec: Elizabeth E Palmer , Chloe Whitton , Mais O Hashem , Robin D Clark , Subhadra Ramanathan , Lois J Starr , Danita Velasco , John Karl De Dios , Emily Singh , Valerie Cormier-Daire , Maya Chopra , Lance H Rodan , Christoffer Nellaker , Shenela Lakhani , Eric J Mallack , Karin Panzer , Alpa Sidhu , Ingrid M Wentzensen , Didier Lacombe , Vincent Michaud , Fowzan S Alkuraya

SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.

Orphanet journal of rare diseases

Avec: M Mouillé , M Rio , S Breton , M L Piketty , A Afenjar , J Amiel , Y Capri , A Goldenberg , C Francannet , C Michot , C Mignot , L Perrin , C Quelin , J Van Gils , G Barcia , V Pingault , G Maruani , E Koumakis , V Cormier-Daire

Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.

Brain : a journal of neurology

Avec: Alessandra Guasto , Johanne Dubail , Sergio Aguilera-Albesa , Chiara Paganini , Catherine Vanhulle , Walid Haouari , Nerea Gorría-Redondo , Elena Aznal-Sainz , Nathalie Boddaert , Laura Planas-Serra , Agatha Schlüter , Valentina Vélez-Santamaría , Edgard Verdura , Arnaud Bruneel , Antonio Rossi , Céline Huber , Aurora Pujol ,

Osteogenesis Imperfecta: characterization of fractures during pregnancy and post-partum.

Orphanet journal of rare diseases

Avec: Eugénie Koumakis , Azeddine Dellal , Marc Debernardi , Bernard Cortet , Françoise Debiais , Rose-Marie Javier , Thierry Thomas , Nadia Mehsen-Cetre , Martine Cohen-Solal , Elisabeth Fontanges , Michel Laroche , Valérie Porquet-Bordes , Christian Marcelli , Alexandra Benachi , Karine Briot , Christian Roux , Catherine Cormier

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

American journal of human genetics

Avec: Federico Tessadori , Karen Duran , Karen Knapp , Matthias Fellner , Auteur inconnu , Sarah Smithson , Ana Beleza Meireles , Mariet W Elting , Quinten Waisfisz , Anne O'Donnell-Luria , Catherine Nowak , Jessica Douglas , Anne Ronan , Theresa Brunet , Urania Kotzaeridou , Shayna Svihovec , Margarita S Saenz , Isabelle Thiffault , Florencia Del Viso , Patrick Devine , Shannon Rego , Jessica Tenney , Arie van Haeringen , Claudia A L Ruivenkamp , Saskia Koene , Stephen P Robertson , Charulata Deshpande , Rolph Pfundt , Nienke Verbeek , Jiddeke M van de Kamp , Janneke M M Weiss , Anna Ruiz , Elisabeth Gabau , Ehud Banne , Alexander Pepler , Armand Bottani , Sacha Laurent , Michel Guipponi , Emilia Bijlsma , Ange-Line Bruel , Arthur Sorlin , Mary Willis , Zoe Powis , Thomas Smol , Catherine Vincent-Delorme , Diana Baralle , Estelle Colin , Nicole Revencu , Eduardo Calpena , Andrew O M Wilkie , Maya Chopra , Valerie Cormier-Daire , Boris Keren , Alexandra Afenjar , Marcello Niceta , Alessandra Terracciano , Nicola Specchio , Marco Tartaglia , Marlene Rio , Giulia Barcia , Sophie Rondeau , Cindy Colson , Jeroen Bakkers , Peter D Mace , Louise S Bicknell , Gijs van Haaften

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations.

Orphanet journal of rare diseases

Avec: Valerie Cormier-Daire , Moeenaldeen AlSayed , Inês Alves , Joana Bengoa , Tawfeg Ben-Omran , Silvio Boero , Svein Fredwall , Catherine Garel , Encarna Guillen-Navarro , Melita Irving , Christian Lampe , Mohamad Maghnie , Geert Mortier , Sérgio B Sousa , Klaus Mohnike

Consideration of oral health in rare disease expertise centres: a retrospective study on 39 rare diseases using text mining extraction method.

Orphanet journal of rare diseases

Avec: Lisa Friedlander , Marc Vincent , Ariane Berdal , Stanislas Lyonnet , Nicolas Garcelon

Parents' Experience of Administering Vosoritide: A Daily Injectable for Children with Achondroplasia.

Advances in therapy

Avec: Sinead NiMhurchadha , Karen Butler , Rob Argent , Katja Palm , Genevieve Baujat , Valerie Cormier-Daire , Klaus Mohnike

An intermediate phenotype in IDH related enchondromatosis spectrum.

European journal of medical genetics

Avec: Elif Yilmaz-Gulec , Pauline Marzin , Céline Huber-Lequesne ,

Oro-dental phenotyping and report of three families with RELT-associated amelogenesis imperfecta.

European journal of human genetics : EJHG

Avec: Kemelly Karolliny Moreira Resende , Margot Charlotte Riou , Paulo Marcio Yamaguti , Benjamin Fournier , Sophie Rondeau , Laurence Pacot , Ariane Berdal , Rufino Felizardo , Juliana Forte Mazzeu , Céline Gaucher , Ana Carolina Acevedo , Muriel de La Dure-Molla

Determinants of dental care use in patients with rare diseases: a qualitative exploration.

BMC oral health

Avec: Lisa Friedlander , Ariane Berdal , Stanislas Lyonnet , Nicolas Garcelon

Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in

Genes

Avec: Patricia Pascual , Jair Tenorio-Castano , Cyril Mignot , Alexandra Afenjar , Pedro Arias , Natalia Gallego-Zazo , Alejandro Parra , Lucia Miranda , Mario Cazalla , Cristina Silván , Delphine Heron , Boris Keren , Ioana Popa , María Palomares , Emi Rikeros , Feliciano J Ramos , Berta Almoguera , Carmen Ayuso , Saoud Tahsin Swafiri , Ana Isabel Sánchez Barbero , Varunvenkat M Srinivasan , Vykuntaraju K Gowda , Manuela Morleo , Vicenzo Nigro , Stefano D'Arrigo , Claudia Ciaccio , Carmen Martin Mesa , Beatriz Paumard , Gema Guillen , Ana Teresa Serrano Anton , Marta Domínguez Jimenez , Veronica Seidel , Julia Suárez , Valerie Cormier-Daire , The Sogri Consortium , Julián Nevado , Pablo Lapunzina

European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis.

Orphanet journal of rare diseases

Avec: Melita Irving , Moeenaldeen AlSayed , Paul Arundel , Geneviève Baujat , Tawfeg Ben-Omran , Silvio Boero , Svein Fredwall , Encarna Guillen-Navarro , Heike Hoyer-Kuhn , Philip Kunkel , Christian Lampe , Mohamad Maghnie , Klaus Mohnike , Geert Mortier , Sérgio B Sousa

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Laura Castilla-Vallmanya , Kaja K Selmer , Clémantine Dimartino , Raquel Rabionet , Bernardo Blanco-Sánchez , Sandra Yang , Margot R F Reijnders , Antonie J van Essen , Myriam Oufadem , Magnus D Vigeland , Barbro Stadheim , Gunnar Houge , Helen Cox , Helen Kingston , Jill Clayton-Smith , Jeffrey W Innis , Maria Iascone , Anna Cereda , Sara Gabbiadini , Wendy K Chung , Victoria Sanders , Joel Charrow , Emily Bryant , John Millichap , Antonio Vitobello , Christel Thauvin , Frederic Tran Mau-Them , Laurence Faivre , Gaetan Lesca , Audrey Labalme , Christelle Rougeot , Nicolas Chatron , Damien Sanlaville , Katherine M Christensen , Amelia Kirby , Raymond Lewandowski , Rachel Gannaway , Maha Aly , Anna Lehman , Lorne Clarke , Luitgard Graul-Neumann , Christiane Zweier , Davor Lessel , Bernarda Lozic , Ingvild Aukrust , Ryan Peretz , Robert Stratton , Thomas Smol , Anne Dieux-Coëslier , Joanna Meira , Elizabeth Wohler , Nara Sobreira , Erin M Beaver , Jennifer Heeley , Lauren C Briere , Frances A High , David A Sweetser , Melissa A Walker , Catherine E Keegan , Parul Jayakar , Marwan Shinawi , Wilhelmina S Kerstjens-Frederikse , Dawn L Earl , Victoria M Siu , Emma Reesor , Tony Yao , Robert A Hegele , Olena M Vaske , Shannon Rego , Auteur inconnu , Kevin A Shapiro , Brian Wong , Michael J Gambello , Marie McDonald , Danielle Karlowicz , Roberto Colombo , Alessandro Serretti , Lynn Pais , Anne O'Donnell-Luria , Alison Wray , Simon Sadedin , Belinda Chong , Tiong Y Tan , John Christodoulou , Susan M White , Anne Slavotinek , Deborah Barbouth , Dayna Morel Swols , Mélanie Parisot , Christine Bole-Feysot , Patrick Nitschké , Véronique Pingault , Arnold Munnich , Megan T Cho , Susanna Balcells , Stanislas Lyonnet , Daniel Grinberg , Jeanne Amiel , Roser Urreizti , Christopher T Gordon

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

Bone

Avec: Nadja Ehmke , Kristina Cusmano-Ozog , Rainer Koenig , Manuel Holtgrewe , Banu Nur , Ercan Mihci , Holly Babcock , Claudia Gonzaga-Jauregui , John D Overton , Jing Xiao , Ariel F Martinez , Maximilian Muenke , Alexander Balzer , Judith Jochim , Naji El Choubassi , Björn Fischer-Zirnsak , Céline Huber , Uwe Kornak , Sarah H Elsea , Carlos R Ferreira

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.

Journal of medical genetics

Avec: Martin Chevarin , Yannis Duffourd , Rebecca A Barnard , Sébastien Moutton , François Lecoquierre , Fatma Daoud , Paul Kuentz , Caroline Cabret , Julien Thevenon , Elodie Gautier , Patrick Callier , Judith St-Onge , Thibaud Jouan , Didier Lacombe , Marie Ange Delrue , Cyril Goizet , Fanny Morice-Picard , Julien Van-Gils , Arnold Munnich , Stanislas Lyonnet , Geneviève Baujat , Muriel Holder , Florence Petit , Bruno Leheup , Sylvie Odent , Pierre-Simon Jouk , Gipsy Lopez , David Geneviève , Patrick Collignon , Dominique Martin-Coignard , Aurélia Jacquette , Laurence Perrin , Audrey Putoux , Elisabeth Sarrazin , Khadija Amarof , Isabelle Missotte , Christine Coubes , Sujatha Jagadeesh , Elisabetta Lapi , Florence Demurger , Alice Goldenberg , Martine Doco-Fenzy , Cyril Mignot , Delphine Héron , Nolwenn Jean-Marçais , Alice Masurel , Salima El Chehadeh , Nathalie Marle , Frédéric Huet , Christine Binquet , Gwenaëlle Collod-Beroud , Pauline Arnaud , Nadine Hanna , Catherine Boileau , Guillaume Jondeau , Robert Olaso , Doris Lechner , Charlotte Poe , Mirna Assoum , Virginie Carmignac , Laurence Duplomb , Frédéric Tran Mau-Them , Christophe Philippe , Antonio Vitobello , Ange-Line Bruel , Anne Boland , Jean-François Deleuze , Christel Thauvin-Robinet , Jean-Baptiste Rivière , Brian J O'Roak , Laurence Faivre

[Secondary surgeries in craniosynostosis and faciocraniosynostosis].

Annales de chirurgie plastique et esthetique

Avec: E Arnaud , S E Haber , G Paternoster , S James , H Khonsari , M P Morisseau-Durand , B Fauroux , V Viot-Blanc , V Couloigner , A Picard , V Cormier-Daire , M Robert , C Legros , M Zerah , P H Meyer

C-Type Natriuretic Peptide Analogue Therapy in Children with Achondroplasia.

The New England journal of medicine

Avec: Ravi Savarirayan , Melita Irving , Carlos A Bacino , Bret Bostwick , Joel Charrow , Valerie Cormier-Daire , Kim-Hanh Le Quan Sang , Patricia Dickson , Paul Harmatz , John Phillips , Natalie Owen , Anu Cherukuri , Kala Jayaram , George S Jeha , Kevin Larimore , Ming-Liang Chan , Alice Huntsman Labed , Jonathan Day , Julie Hoover-Fong

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Henri Margot , Guilaine Boursier , Claire Duflos , Elodie Sanchez , Jeanne Amiel , Jean-Christophe Andrau , Stéphanie Arpin , Elise Brischoux-Boucher , Odile Boute , Lydie Burglen , Charlotte Caille , Yline Capri , Patrick Collignon , Solène Conrad , Geoffroy Delplancq , Klaus Dieterich , Hélène Dollfus , Mélanie Fradin , Laurence Faivre , Helder Fernandes , Christine Francannet , Vincent Gatinois , Marion Gerard , Alice Goldenberg , Jamal Ghoumid , Sarah Grotto , Anne-Marie Guerrot , Agnès Guichet , Bertrand Isidor , Marie-Line Jacquemont , Sophie Julia , Philippe Khau Van Kien , Marine Legendre , K H Le Quan Sang , Bruno Leheup , Stanislas Lyonnet , Virginie Magry , Sylvie Manouvrier , Dominique Martin , Godelieve Morel , Arnold Munnich , Sophie Naudion , Sylvie Odent , Laurence Perrin , Florence Petit , Nicole Philip , Marlène Rio , Julie Robbe , Massimiliano Rossi , Elisabeth Sarrazin , Annick Toutain , Julien Van Gils , Gabriella Vera , Alain Verloes , Sacha Weber , Sandra Whalen , Damien Sanlaville , Didier Lacombe , Nathalie Aladjidi , David Geneviève

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.

European journal of medical genetics

Avec: Pauline Marzin , Geneviève Baujat , Déborah Gensburger , Céline Huber , Christine Bole , Michel Panuel , Georges Finidori , Muriel De la Dure ,

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

American journal of medical genetics. Part C, Seminars in medical genetics

Avec: Pauline Marzin , Sophie Rondeau , Kimberly A Aldinger , Jean-Luc Alessandri , Bertrand Isidor , Delphine Heron , Boris Keren , William B Dobyns ,

Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification.

Matrix biology : journal of the International Society for Matrix Biology

Avec: Chiara Paganini , Luca Monti , Rossella Costantini , Roberta Besio , Silvia Lecci , Marco Biggiogera , Kun Tian , Jean-Marc Schwartz , Céline Huber , Beth G Gibson , Katarzyna A Pirog , Antonella Forlino , Antonio Rossi

Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants.

European journal of human genetics : EJHG

Avec: Clémence Vanlerberghe , Anne-Sophie Jourdain , Jamal Ghoumid , Frédéric Frenois , Aurélie Mezel , Guy Vaksmann , Bruno Lenne , Bruno Delobel , Nicole Porchet , Thomas Smol , Fabienne Escande , Sylvie Manouvrier-Hanu , Florence Petit

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

American journal of human genetics

Avec: Adrian Palencia-Campos , Phillip C Aoto , Erik M F Machal , Ana Rivera-Barahona , Patricia Soto-Bielicka , Daniela Bertinetti , Blaine Baker , Lily Vu , Francesca Piceci-Sparascio , Isabella Torrente , Eveline Boudin , Silke Peeters , Wim Van Hul , Celine Huber , Dominique Bonneau , Michael S Hildebrand , Matthew Coleman , Melanie Bahlo , Mark F Bennett , Amy L Schneider , Ingrid E Scheffer , Maria Kibæk , Britta S Kristiansen , Mahmoud Y Issa , Mennat I Mehrez , Samira Ismail , Jair Tenorio , Gaoyang Li , Bjørn Steen Skålhegg , Ghada A Otaify , Samia Temtamy , Mona Aglan , Aia E Jønch , Alessandro De Luca , Geert Mortier , Alban Ziegler , Mathew Wallis , Pablo Lapunzina , Friedrich W Herberg , Susan S Taylor , Victor L Ruiz-Perez

Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.

International journal of molecular sciences

Avec: Guillaume Velasco , Damien Ulveling , Sophie Rondeau , Pauline Marzin , Motoko Unoki , Claire Francastel

Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome.

Studies in health technology and informatics

Avec: Carole Faviez , Marc Vincent , Nicolas Garcelon , Caroline Michot , Genevieve Baujat , Valerie Cormier-Daire , Sophie Saunier , Xiaoyi Chen , Anita Burgun

Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.

Frontiers in genetics

Avec: Johanne Dubail ,

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome.

Journal of medical genetics

Avec: Shiomi Otsuji , Yosuke Nishio , Maki Tsujita , Marlene Rio , Céline Huber , Carlos Antón-Plágaro , Seiji Mizuno , Yoshihiko Kawano , Satoko Miyatake , Marleen Simon , Ellen van Binsbergen , Richard H van Jaarsveld , Naomichi Matsumoto , Valerie Cormier-Daire , Peter J Cullen , Shinji Saitoh , Kohji Kato

Real-world evidence in achondroplasia: considerations for a standardized data set.

Orphanet journal of rare diseases

Avec: Yasemin Alanay , Klaus Mohnike , Ola Nilsson , Inês Alves , Moeenaldeen AlSayed , Natasha M Appelman-Dijkstra , Genevieve Baujat , Tawfeg Ben-Omran , Sandra Breyer , Valerie Cormier-Daire , Pernille Axél Gregersen , Encarna Guillén-Navarro , Wolfgang Högler , Mohamad Maghnie , Swati Mukherjee , Shelda Cohen , Jeanne Pimenta , Angelo Selicorni , J Oliver Semler , Sabine Sigaudy , Dmitry Popkov , Ian Sabir , Susana Noval , Marco Sessa , Melita Irving

Bone allografting: an original method for biological osteosynthesis and bone reinforcement in children with osteogenesis imperfecta.

International orthopaedics

Avec: Mathilde Gaume , Sarah El Yahiaouni , Marine De Tienda , Genevieve Baujat , Valérie Dumaine , Stéphanie Pannier , Georges Finidori , Zagorka Pejin

ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions.

European journal of medical genetics

Avec: Lorena Casareto , Natasha M Appelman-Dijkstra , Maria Luisa Brandi , Roland Chapurlat , Neveen A T Hamdy , Karen E Heath , Joachim Horn , Giovanna Mantovani , Klaus Mohnike , Sérgio Bernardo Sousa , André Travessa , Lena Lande Wekre , M Carola Zillikens , Luca Sangiorgi , Auteur inconnu

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients.

Journal of medical genetics

Avec: Hortense Thomas , Tom Alix , Émeline Renard , Mathilde Renaud , Justine Wourms , Stéphane Zuily , Bruno Leheup , David Geneviève , Natacha Dreumont , Emmanuelle Schmitt , Myriam Bronner , Marc Muller , Marion Divoux , Marion Wandzel , Jean-Marie Ravel , Mylène Dexheimer , Aurélie Becker , Virginie Roth , Marjolaine Willems , Christine Coubes , Gaëlle Vieville , Françoise Devillard , Élise Schaefer , Sarah Baer , Amélie Piton , Bénédicte Gérard , Marie Vincent , Mathilde Nizon , Benjamin Cogné , Lyse Ruaud , Nathalie Couque , Audrey Putoux , Patrick Edery , Gaëtan Lesca , Nicolas Chatron , Marianne Till , Laurence Faivre , Frédéric Tran-Mau-Them , Jean-Luc Alessandri , Marine Lebrun , Chloé Quélin , Sylvie Odent , Christèle Dubourg , Véronique David , Marie Faoucher , Cyril Mignot , Boris Keren , Élise Pisan , Alexandra Afenjar , Sophie Julia , Éric Bieth , Guillaume Banneau , Alice Goldenberg , Thomas Husson , Dominique Campion , François Lecoquierre , Gaël Nicolas , Camille Charbonnier , Anne De Saint Martin , Sophie Naudion , Manon Degoutin , Sophie Rondeau , Caroline Michot , Abderrahim Oussalah , Carine Pourié , Laëtitia Lambert , Céline Bonnet

The unfolded protein response regulates ER exit sites via SNRPB-dependent RNA splicing and contributes to bone development.

The EMBO journal

Avec: Muhammad Zahoor , Yanchen Dong , Marco Preussner , Veronika Reiterer , Sabrina Shameen Alam , Margot Haun , Utku Horzum , Yannick Frey , Renata Hajdu , Stephan Geley , Valerie Cormier-Daire , Florian Heyd , Loydie A Jerome-Majewska , Hesso Farhan

RPL26 variants: a rare cause of Diamond-Blackfan Anemia Syndrome with multiple congenital anomalies at the forefront.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Clémence Vanlerberghe , Frédéric Frénois , Thomas Smol , Anne-Sophie Jourdain , Fabienne Escande , Emilie Aït-Yahya , Abdulrahman A Aldeeri , Timothy W Yu , Jamal Ghoumid , Maureen Jacob , Ruth Newbury-Ecob , Sylvie Manouvrier , Jessica Platon , Sebastian Sailer , Perrine Brunelle , Lydie Da Costa , Florence Petit

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Science immunology

Avec: Juan Li , Marco Ritelli , Cindy S Ma , Geetha Rao , Tanwir Habib , Emilie Corvilain , Salim Bougarn , Sophie Cypowyj , Lucie Grodecká , Romain Lévy , Vivien Béziat , Lei Shang , Kathryn Payne , Danielle T Avery , Mélanie Migaud , Soraya Boucherit , Sabri Boughorbel , Andrea Guennoun , Maya Chrabieh , Franck Rapaport , Benedetta Bigio , Yuval Itan , Bertrand Boisson , Delfien Syx , Fransiska Malfait , Nicoletta Zoppi , Laurent Abel , Tomáš Freiberger , Harry C Dietz , Nico Marr , Stuart G Tangye , Marina Colombi , Jean-Laurent Casanova , Anne Puel

Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies.

Journal of inherited metabolic disease

Avec: Walid Haouari , Johanne Dubail , Samra Lounis-Ouaras , Pierre Prada , Rizk Bennani , Charles Roseau , Céline Huber , Alexandra Afenjar , Estelle Colin , Sandrine Vuillaumier-Barrot , Nathalie Seta , François Foulquier , Christian Poüs , Arnaud Bruneel

Growth charts in Kabuki syndrome 1.

American journal of medical genetics. Part A

Avec: Valentin Ruault , Carole Corsini , Claire Duflos , Sandrine Akouete , Véra Georgescu , Mario Abaji , Yves Alembick , Eudeline Alix , Jeanne Amiel , Cyril Amouroux , Mouna Barat-Houari , Clarisse Baumann , Adeline Bonnard , Guilaine Boursier , Odile Boute , Lydie Burglen , Tiffany Busa , Marie-Pierre Cordier , Marie-Ange Delrue , Bérénice Doray , Laurence Faivre , Mélanie Fradin , Brigitte Gilbert-Dussardier , Fabienne Giuliano , Alice Goldenberg , Svetlana Gorokhova , Delphine Héron , Bertrand Isidor , Marie-Line Jacquemont , Aurélia Jacquette , Claire Jeandel , Didier Lacombe , Martine Le Merrer , Kim Hanh Le Quan Sang , Stanislas Lyonnet , Sylvie Manouvrier , Caroline Michot , Anne Moncla , Sébastien Moutton , Sylvie Odent , Anna Pelet , Nicole Philip , Lucile Pinson , Julie Reversat , Joëlle Roume , Elodie Sanchez , Damien Sanlaville , Pierre Sarda , Elise Schaefer , Marianne Till , Isabelle Touitou , Annick Toutain , Marjolaine Willems , Vincent Gatinois , David Geneviève

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.

American journal of human genetics

Avec: Erfan Aref-Eshghi , Jennifer Kerkhof , Victor P Pedro , Auteur inconnu , Mouna Barat-Houari , Nathalie Ruiz-Pallares , Jean-Christophe Andrau , Didier Lacombe , Julien Van-Gils , Patricia Fergelot , Christèle Dubourg , Valerie Cormier-Daire , Sophie Rondeau , François Lecoquierre , Pascale Saugier-Veber , Gaël Nicolas , Gaetan Lesca , Nicolas Chatron , Damien Sanlaville , Antonio Vitobello , Laurence Faivre , Christel Thauvin-Robinet , Frederic Laumonnier , Martine Raynaud , Mariëlle Alders , Marcel Mannens , Peter Henneman , Raoul C Hennekam , Guillaume Velasco , Claire Francastel , Damien Ulveling , Andrea Ciolfi , Simone Pizzi , Marco Tartaglia , Solveig Heide , Delphine Héron , Cyril Mignot , Boris Keren , Sandra Whalen , Alexandra Afenjar , Thierry Bienvenu , Philippe M Campeau , Justine Rousseau , Michael A Levy , Lauren Brick , Mariya Kozenko , Tugce B Balci , Victoria Mok Siu , Alan Stuart , Mike Kadour , Jennifer Masters , Kyoko Takano , Tjitske Kleefstra , Nicole de Leeuw , Michael Field , Marie Shaw , Jozef Gecz , Peter J Ainsworth , Hanxin Lin , David I Rodenhiser , Michael J Friez , Matt Tedder , Jennifer A Lee , Barbara R DuPont , Roger E Stevenson , Steven A Skinner , Charles E Schwartz , David Genevieve , Bekim Sadikovic

Avec: Lucy Bownass , Stephen Abbs , Ruth Armstrong , Genevieve Baujat , Gry Behzadi , Ragnhild Drage Berentsen , Christine Burren , Alistair Calder , Ruth Newbury-Ecob , Nicola Foulds , Petur B Juliusson , Sarina G Kant , Henrietta Lefroy , Sarju G Mehta , Else Merckoll , Caroline Michot , Fergal Monsell , Amaka C Offiah , Allan Richards , Karen Rosendahl , Cecilie F Rustad , Deborah Shears , Kristian Tveten , Diana Wellesley , Paul Wordsworth , Auteur inconnu , Sarah Smithson

Mutations in IFT80 cause SRPS Type IV. Report of two families and review.

American journal of medical genetics. Part A

Avec: Varoona Bizaoui , Céline Huber , Eva Kohaut , Joelle Roume , Maryse Bonnière , Tania Attié-Bitach ,

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Human molecular genetics

Avec: Marie Alice Dupont , Camille Humbert , Céline Huber , Quentin Siour , Ida Chiara Guerrera , Vincent Jung , Anni Christensen , Aurore Pouliet , Meriem Garfa-Traoré , Patrick Nitschké , Marie Injeyan , Kathryn Millar , David Chitayat , Patrick Shannon , Katta Mohan Girisha , Anju Shukla , Charlotte Mechler , Esben Lorentzen , Alexandre Benmerah , Cécile Jeanpierre , Sophie Saunier , Marion Delous

Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology

Avec: Laure Delhon , Clémentine Mahaut , Nicolas Goudin , Emilie Gaudas , Kevin Piquand , Wilfried Le Goff , Carine Le Goff

Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Nature

Avec: Quitterie Venot , Thomas Blanc , Smail Hadj Rabia , Laureline Berteloot , Sophia Ladraa , Jean-Paul Duong , Estelle Blanc , Simon C Johnson , Clément Hoguin , Olivia Boccara , Sabine Sarnacki , Nathalie Boddaert , Stephanie Pannier , Frank Martinez , Sato Magassa , Junna Yamaguchi , Bertrand Knebelmann , Pierre Merville , Nicolas Grenier , Dominique Joly , Caroline Michot , Christine Bole-Feysot , Arnaud Picard , Véronique Soupre , Stanislas Lyonnet , Jeremy Sadoine , Lotfi Slimani , Catherine Chaussain , Cécile Laroche-Raynaud , Laurent Guibaud , Christine Broissand , Jeanne Amiel , Christophe Legendre , Fabiola Terzi , Guillaume Canaud

Inherited Proteoglycan Biosynthesis Defects-Current Laboratory Tools and Bikunin as a Promising Blood Biomarker.

Genes

Avec: Walid Haouari , Johanne Dubail , Christian Poüs , Arnaud Bruneel

International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.

Nature reviews. Endocrinology

Avec: Ravi Savarirayan , Penny Ireland , Melita Irving , Dominic Thompson , Inês Alves , Wagner A R Baratela , James Betts , Michael B Bober , Silvio Boero , Jenna Briddell , Jeffrey Campbell , Philippe M Campeau , Patricia Carl-Innig , Moira S Cheung , Martyn Cobourne , Muriel Deladure-Molla , Mariana Del Pino , Heather Elphick , Virginia Fano , Brigitte Fauroux , Jonathan Gibbins , Mari L Groves , Lars Hagenäs , Therese Hannon , Julie Hoover-Fong , Morrys Kaisermann , Antonio Leiva-Gea , Juan Llerena , William Mackenzie , Kenneth Martin , Fabio Mazzoleni , Sharon McDonnell , Maria Costanza Meazzini , Josef Milerad , Klaus Mohnike , Geert R Mortier , Amaka Offiah , Keiichi Ozono , John A Phillips , Steven Powell , Yosha Prasad , Cathleen Raggio , Pablo Rosselli , Judith Rossiter , Angelo Selicorni , Marco Sessa , Mary Theroux , Matthew Thomas , Laura Trespedi , David Tunkel , Colin Wallis , Michael Wright , Natsuo Yasui , Svein Otto Fredwall

Avec: Svein Fredwall , Yana Allum , Moeenaldeen AlSayed , Inês Alves , Tawfeg Ben-Omran , Silvio Boero , Valerie Cormier-Daire , Encarna Guillen-Navarro , Melita Irving , Christian Lampe , Mohamad Maghnie , Klaus Mohnike , Geert Mortier , Sérgio B Sousa , Michael Wright

Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.

American journal of medical genetics. Part A

Avec: Emmanuelle Ranza , Morgane Le Gouez , Anne Guimier , Naziha Khen Dunlop , Sylvie Beaudoin , Valérie Malan , Caroline Michot , Geneviève Baujat , Marlène Rio , Véronique Abadie , Sabine Sarnacki , Christophe Delacourt , Stanislas Lyonnet , Tania Attié-Bitach , Véronique Pingault , Véronique Rousseau , Jeanne Amiel

Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Ravi Savarirayan , Melita Irving , Paul Harmatz , Borja Delgado , William R Wilcox , John Philips , Natalie Owen , Carlos A Bacino , Louise Tofts , Joel Charrow , Lynda E Polgreen , Julie Hoover-Fong , Paul Arundel , Ignacio Ginebreda , Howard M Saal , Donald Basel , Rosendo Ullot Font , Keiichi Ozono , Michael B Bober , Valerie Cormier-Daire , Kim-Hanh Le Quan Sang , Genevieve Baujat , Yasemin Alanay , Frank Rutsch , Daniel Hoernschemeyer , Klaus Mohnike , Hiroshi Mochizuki , Asako Tajima , Yumiko Kotani , David D Weaver , Klane K White , Clare Army , Kevin Larrimore , Keith Gregg , George Jeha , Claire Milligan , Elena Fisheleva , Alice Huntsman-Labed , Jonathan Day

An automatic facial landmarking for children with rare diseases.

American journal of medical genetics. Part A

Avec: Quentin Hennocq , Thomas Bongibault , Matthieu Bizière , Ombline Delassus , Maxime Douillet , Jeanne Amiel , Stanislas Lyonnet , Sandrine Marlin , Marlène Rio , Arnaud Picard , Roman Hossein Khonsari , Nicolas Garcelon

Unequal Impact of

Journal of dental research

Avec: P M Yamaguti , M de La Dure-Molla , S Monnot , Y J Cardozo-Amaya , G Baujat , C Michot , B P J Fournier , M C Riou , E C C Caldas Rosa , Y Soares de Lima , P A C Dos Santos , G Alcaraz , E N S Guerra , L C Castro , S F de Oliveira , R Pogue , A Berdal , L M de Paula , J F Mazzeu , V Cormier-Daire , A C Acevedo

TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature.

Annual review of genomics and human genetics

Avec: Alice Costantini , Alessandra Guasto ,

Low-dose non-steroidal anti-inflammatory drugs: a promising approach for the treatment of symptomatic bone marrow failure in Ghosal hematodiaphyseal dysplasia.

Haematologica

Avec: Jonathan Bordat , Felipe Suarez , Regis Peffault De Latour , Jean Soulier , Veronique Meignin , Mathilde Doyard , Lise Larcher , Stephane Vanderbecken , Flore Sicre De Fontbrune

Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.

BMC medical informatics and decision making

Avec: Carole Faviez , Xiaoyi Chen , Nicolas Garcelon , Mohamad Zaidan , Katy Billot , Friederike Petzold , Hassan Faour , Maxime Douillet , Jean-Michel Rozet , Tania Attié-Bitach , Stanislas Lyonnet , Sophie Saunier , Anita Burgun

Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.

European journal of human genetics : EJHG

Avec: Maëlle Charpié , Perrine Brunelle , Geneviève Baujat , Caroline Michot , Julien Van Gils , Bruno Leheup , Élise Schaefer , Eugénie Koumakis , Zagorka Pejin , Graziella Pinto , Sophie Monnot ,

Réseau de co-auteurs

Valerie Cormier-Daire 25 collaborations

Caroline Michot 19 collaborations

Geneviève Baujat 18 collaborations

Céline Huber 17 collaborations

Stanislas Lyonnet 16 collaborations

Klaus Mohnike 12 collaborations

Sophie Rondeau 12 collaborations

Melita Irving 11 collaborations

Jeanne Amiel 11 collaborations

Nicolas Garcelon 9 collaborations

None None 9 collaborations

Johanne Dubail 8 collaborations

Ravi Savarirayan 8 collaborations

Pauline Marzin 8 collaborations

Laurence Faivre 8 collaborations

Florence Petit 7 collaborations

Zagorka Pejin 7 collaborations

Genevieve Baujat 7 collaborations

David Geneviève 7 collaborations

Brigitte Fauroux 7 collaborations

Didier Lacombe 7 collaborations

Annick Toutain 6 collaborations

Moeenaldeen AlSayed 6 collaborations

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