Stanislas Lyonnet

Affiliations
  • Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), and Institut Imagine, Paris 75015, France; Laboratory of embryology and genetics of human malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Université de Paris, Paris 75015, France.

Publications (65)

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

American journal of human genetics
Avec: Maya Chopra , Meriel McEntagart , Jill Clayton-Smith , Konrad Platzer , Anju Shukla , Katta M Girisha , Anupriya Kaur , Parneet Kaur , Rolph Pfundt , Hermine Veenstra-Knol , Grazia M S Mancini , Gerarda Cappuccio , Nicola Brunetti-Pierri , Fanny Kortüm , Maja Hempel , Jonas Denecke , Anna Lehman , Auteur inconnu , Tjitske Kleefstra , Kyra E Stuurman , Martina Wilke , Michelle L Thompson , E Martina Bebin , Emilia K Bijlsma , Mariette J V Hoffer , Cacha Peeters-Scholte , Anne Slavotinek , William A Weiss , Tiffany Yip , Ugur Hodoglugil , Amy Whittle , Janette diMonda , Juanita Neira , Sandra Yang , Amelia Kirby , Hailey Pinz , Rosan Lechner , Frank Sleutels , Ingo Helbig , Sarah McKeown , Katherine Helbig , Rebecca Willaert , Jane Juusola , Jennifer Semotok , Medard Hadonou , John Short , Auteur inconnu , Naomi Yachelevich , Sajel Lala , Alberto Fernández-Jaen , Janvier Porta Pelayo , Chiara Klöckner , Susanne B Kamphausen , Rami Abou Jamra , Maria Arelin , A Micheil Innes , Anni Niskakoski , Sam Amin , Maggie Williams , Julie Evans , Sarah Smithson , Damian Smedley , Anna de Burca , Usha Kini , Martin B Delatycki , Lyndon Gallacher , Alison Yeung , Lynn Pais , Michael Field , Ellenore Martin , Perrine Charles , Thomas Courtin , Boris Keren , Maria Iascone , Anna Cereda , Gemma Poke , Véronique Abadie , Christel Chalouhi , Padmini Parthasarathy , Benjamin J Halliday , Stephen P Robertson , Jeanne Amiel , Christopher T Gordon

Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome.

American journal of human genetics
Avec: Na Chen , Sen Zhao , Angad Jolly , Lianlei Wang , Hongxin Pan , Jian Yuan , Shaoke Chen , André Koch , Congcong Ma , Weijie Tian , Ziqi Jia , Jia Kang , Lina Zhao , Chenglu Qin , Xin Fan , Katharina Rall , Zeynep Coban-Akdemir , Zefu Chen , Shalini Jhangiani , Ze Liang , Yuchen Niu , Xiaoxin Li , Zihui Yan , Yong Wu , Shuangshuang Dong , Chengcheng Song , Guixing Qiu , Shuyang Zhang , Pengfei Liu , Jennifer E Posey , Feng Zhang , Guangnan Luo , Zhihong Wu , Auteur inconnu , Jianzhong Su , Jianguo Zhang , Eugenia Y Chen , Konstantinos Rouskas , Stavros Glentis , Flora Bacopoulou , Efthymios Deligeoroglou , George Chrousos , Michel Polak , Carla Rosenberg , Irene Dingeldein , Ximena Bonilla , Christelle Borel , Richard A Gibbs , Jennifer E Dietrich , Antigone S Dimas , Stylianos E Antonarakis , Sara Y Brucker , James R Lupski , Nan Wu , Lan Zhu

Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations.

Human mutation
Avec: Enzo Cohen , Sabrina Belkacem , Soumeya Fedala , Nathalie Collot , Eliane Khallouf , Florence Dastot , Michel Polak , Philippe Duquesnoy , Frederic Brioude , Sophie Rose , Géraldine Viot , Aude Soleyan , Jean-Claude Carel , Marie-Laure Sobrier , Philippe Chanson , Frédérique Gatelais , Claudine Heinrichs , Noureddine Kaffel , Regis Coutant , Şenay Savaş Erdeve , Erdal Kurnaz , Zehra Aycan , Caroline Thalassinos , Zeynep Şıklar , Merih Berberoglu , Cécile Brachet , Serge Amselem , Marie Legendre

Correction: Arterial tortuosity syndrome: 40 new families and literature review.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Aude Beyens , Juliette Albuisson , Annekatrien Boel , Mazen Al-Essa , Waheed Al-Manea , Damien Bonnet , Ozlem Bostan , Odile Boute , Tiffany Busa , Nathalie Canham , Ergun Cil , Paul J Coucke , Margot A Cousin , Majed Dasouki , Julie De Backer , Anne De Paepe , Sofie De Schepper , Deepthi De Silva , Koenraad Devriendt , Inge De Wandele , David R Deyle , Harry Dietz , Sophie Dupuis-Girod , Eudice Fontenot , Björn Fischer-Zirnsak , Alper Gezdirici , Jamal Ghoumid , Fabienne Giuliano , Neus Baena , Mohammed Z Haider , Joshua S Hardin , Xavier Jeunemaitre , Eric W Klee , Uwe Kornak , Manuel F Landecho , Anne Legrand , Bart Loeys , Helen Michael , Pamela Moceri , Shehla Mohammed , Laura Muiño-Mosquera , Sheela Nampoothiri , Karin Pichler , Katrina Prescott , Anna Rajeb , Maria Ramos-Arroyo , Massimiliano Rossi , Mustafa Salih , Mohammed Z Seidahmed , Elise Schaefer , Elisabeth Steichen-Gersdorf , Sehime Temel , Fahrettin Uysal , Marine Vanhomwegen , Lut Van Laer , Lionel Van Maldergem , David Warner , Andy Willaert , Tom R Collins Ii , Andrea Taylor , Elaine C Davis , Yuri Zarate , Bert Callewaert

Agonists of prostaglandin E

Proceedings of the National Academy of Sciences of the United States of America
Avec: Hugo Garcia , Alice S Serafin , Flora Silbermann , Esther Porée , Amandine Viau , Clémentine Mahaut , Katy Billot , Éléonore Birgy , Meriem Garfa-Traore , Stéphanie Roy , Salomé Ceccarelli , Manon Mehraz , Pamela C Rodriguez , Bérangère Deleglise , Laetitia Furio , Fabienne Jabot-Hanin , Nicolas Cagnard , Elaine Del Nery , Marc Fila , Soraya Sin-Monnot , Corinne Antignac , Pauline Krug , Rémi Salomon , Jean-Philippe Annereau , Alexandre Benmerah , Marion Delous , Luis Briseño-Roa , Sophie Saunier

Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.

Frontiers in molecular neuroscience
Avec: 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 , Malcolm P Logan , Allan M Goldstein , Megan G Davey , Robert M W Hofstra , Nikhil Thapar , Alan J Burns

Artificial intelligence-based diagnosis in fetal pathology using external ear shapes.

Prenatal diagnosis
Avec: Quentin Hennocq , Nicolas Garcelon , Thomas Bongibault , Thomas Bouygues , Sandrine Marlin , Jeanne Amiel , Lucile Boutaud , Maxime Douillet , Vèronique Pingault , Arnaud Picard , Marlèe Rio , Tania Attie-Bitach , Roman H Khonsari , Nathalie Roux

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 , Valérie Cormier-Daire , Pierre Corre , Klaus Dieterich , Maxime Douillet , Jean Feydy , Eva Galliani , Fabienne Giuliano , Arnaud Picard , Thantrira Porntaveetus , Marlène Rio , Flavien Rouxel , Vorasuk Shotelersuk , Annick Toutain , Kevin Yauy , David Geneviève , Roman H Khonsari , Nicolas Garcelon

Differential alternative splicing analysis links variation in ZRSR2 to a novel type of oral-facial-digital syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Laurens Hannes , Marta Atzori , Alice Goldenberg , Jesús Argente , Tania Attie-Bitach , Jeanne Amiel , Catia Attanasio , Débora G Braslavsky , Ange-Line Bruel , Mireille Castanet , Christèle Dubourg , An Jacobs , Julian Martinez-Mayer , María Inés Pérez Millán , Nunziana Pezzella , Elise Pelgrims , Mio Aerden , Marijke Bauters , Anne Rochtus , Paula Scaglia , Ann Swillen , Alejandro Sifrim , Roberta Tammaro , Frederic Tran Mau-Them , Sylvie Odent , Christel Thauvin-Robinet , Brunella Franco , Jeroen Breckpot

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 , Valérie Cormier-Daire , Susanna Balcells , Daniel Grinberg , Jeanne Amiel , Roser Urreizti , Christopher T Gordon

Diagnosis support systems for rare diseases: a scoping review.

Orphanet journal of rare diseases
Avec: Carole Faviez , Xiaoyi Chen , Nicolas Garcelon , Antoine Neuraz , Bertrand Knebelmann , Rémi Salomon , Sophie Saunier , Anita Burgun

PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.

European journal of medical genetics
Avec: Oriane Mercati , Marie-Thérèse Abi Warde , Geneviève Lina-Granade , Marlène Rio , Solveig Heide , Pascale de Lonlay , Irène Ceballos-Picot , Matthieu P Robert , Vincent Couloigner , Jacques Beltrand , Nathalie Boddaert , Diana Rodriguez , Elisa Rubinato , Jean-Michel Lapierre , Christophe Merlette , Sylvia Sanquer , Agnès Rötig , Holger Prokisch , Natalie Loundon , Josseline Kaplan , Jean-Paul Bonnefont , Arnold Munnich , Claude Besmond , Laurence Jonard , Sandrine Marlin

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 , Valérie Cormier-Daire , 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

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

The British journal of dermatology
Avec: D Bessis , F Morice-Picard , E Bourrat , C Abadie , S Aouinti , C Baumann , M Best , A-C Bursztejn , Y Capri , C Chiaverini , C Coubes , F Giuliano , S Hadj-Rabia , M-L Jacquemont , D Lacombe , S Lyonnet , S Mallet , J Mazereeuw-Hautier , J Miquel , N Molinari , B Parfait , C Pernet , N Philip , L Pinson , N Pouvreau , Y Vial , P Sarda , S Sigaudy , A Verloes , H Cavé , D Geneviève

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.

Frontiers in genetics
Avec: Christoffer Nellåker , Fowzan S Alkuraya , Gareth Baynam , Raphael A Bernier , Francois P J Bernier , Vanessa Boulanger , Michael Brudno , Han G Brunner , Jill Clayton-Smith , Benjamin Cogné , Hugh J S Dawkins , Bert B A deVries , Sofia Douzgou , Tracy Dudding-Byth , Evan E Eichler , Michael Ferlaino , Karen Fieggen , Helen V Firth , David R FitzPatrick , Dylan Gration , Tudor Groza , Melissa Haendel , Nina Hallowell , Ada Hamosh , Jayne Hehir-Kwa , Marc-Phillip Hitz , Mark Hughes , Usha Kini , Tjitske Kleefstra , R Frank Kooy , Peter Krawitz , Sébastien Küry , Melissa Lees , Gholson J Lyon , Julien L Marcadier , Stephen Meyn , Veronika Moslerová , Juan M Politei , Cathryn C Poulton , F Lucy Raymond , Margot R F Reijnders , Peter N Robinson , Corrado Romano , Catherine M Rose , David C G Sainsbury , Lyn Schofield , Vernon R Sutton , Marek Turnovec , Anke Van Dijck , Hilde Van Esch , Andrew O M Wilkie , Auteur inconnu

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 , Valérie Cormier-Daire , 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 , 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

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.

European journal of human genetics : EJHG
Avec: Flavien Rouxel , Kevin Yauy , Guilaine Boursier , Vincent Gatinois , Mouna Barat-Houari , Elodie Sanchez , Didier Lacombe , Stéphanie Arpin , Fabienne Giuliano , Damien Haye , Marlène Rio , Annick Toutain , Klaus Dieterich , Elise Brischoux-Boucher , Sophie Julia , Mathilde Nizon , Alexandra Afenjar , Boris Keren , Aurelia Jacquette , Sebastien Moutton , Marie-Line Jacquemont , Claire Duflos , Yline Capri , Jeanne Amiel , Patricia Blanchet , Damien Sanlaville , David Genevieve

The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies.

Research square
Avec: Jeremy Manry , Paul Bastard , Adrian Gervais , Tom Le Voyer , Jérémie Rosain , Quentin Philippot , Eleftherios Michailidis , Hans-Heinrich Hoffmann , Shohei Eto , Marina Garcia-Prat , Lucy Bizien , Alba Parra-Martínez , Rui Yang , Liis Haljasmägi , Mélanie Migaud , Karita Särekannu , Julia Maslovskaja , Nicolas de Prost , Yacine Tandjaoui-Lambiotte , Charles-Edouard Luyt , Blanca Amador-Borrero , Alexandre Gaudet , Julien Poissy , Pascal Morel , Pascale Richard , Fabrice Cognasse , Jesus Troya , Sophie Trouillet-Assant , Alexandre Belot , Kahina Saker , Pierre Garçon , Jacques G Rivière , Jean-Christophe Lagier , Stéphanie Gentile , Lindsey Rosen , Elana Shaw , Tomohiro Morio , Junko Tanaka , David Dalmau , Pierre-Louis Tharaux , Damien Sene , Alain Stepanian , Bruno Mégarbane , Vasiliki Triantafyllia , Arnaud Fekkar , James Heath , Jose Franco , Juan-Manuel Anaya , Jordi Solé-Violán , Luisa Imberti , Andrea Biondi , Paolo Bonfanti , Riccardo Castagnoli , Ottavia Delmonte , Yu Zhang , Andrew Snow , Steve Holland , Catherine Biggs , Marcela Moncada-Vélez , Andrés Arias , Lazaro Lorenzo , Soraya Boucherit , Dany Anglicheau , Anna Planas , Filomeen Haerynck , Sotirija Duvlis , Robert Nussbaum , Tayfun Ozcelik , Sevgi Keles , Aziz Bousfiha , Jalila El Bakkouri , Carolina Ramirez-Santana , Stéphane Paul , Qiang Pan-Hammarstrom , Lennart Hammarstrom , Annabelle Dupont , Alina Kurolap , Christine Metz , Alessandro Aiuti , Giorgio Casari , Vito Lampasona , Fabio Ciceri , Lucila Barreiros , Elena Dominguez-Garrido , Mateus Vidigal , Mayana Zatz , Diederik van de Beek , Sabina Sahanic , Ivan Tancevski , Yurii Stepanovskyy , Oksana Boyarchuk , Yoko Nukui , Miyuki Tsumura , Loreto Vidaur , Stuart Tangye , Sonia Burrel , Darragh Duffy , Lluis Quintana-Murci , Adam Klocperk , Nelli Kann , Anna Shcherbina , Yu-Lung Lau , Daniel Leung , Matthieu Coulongeat , Julien Marlet , Rutger Koning , Luis Reyes , Angélique Chauvineau-Grenier , Fabienne Venet , Guillaume Monneret , Michel Nussenzweig , Romain Arrestier , Idris Boudhabhay , Hagit Baris-Feldman , David Hagin , Joost Wauters , Isabelle Meyts , Adam Dyer , Sean Kennelly , Nollaig Bourke , Rabih Halwani , Fatemeh Sharif-Askari , Karim Dorgham , Jérôme Sallette , Souad Mehlal-Sedkaoui , Suzan AlKhater , Raúl Rigo-Bonnin , Francisco Morandeira , Lucie Roussel , Donald Vinh , Christian Erikstrup , Antonio Condino-Neto , Carolina Prando , Anastasiia Bondarenko , András Spaan , Laurent Gilardin , Jacques Fellay , Kaya Bilguvar , Richard Lifton , Shrikant Mane , Mark Anderson , Bertrand Boisson , Vivien Béziat , Shen-Ying Zhang , Evangelos Andreakos , Olivier Hermine , Aurora Pujol , Pärt Peterson , Trine Hyrup Mogensen , Lee Rowen , James Mond , Stéphanie Debette , Xavier deLamballerie , Charles Burdet , Lila Bouadma , Marie Zins , Pere Soler-Palacin , Roger Colobran , Guy Gorochov , Xavier Solanich , Sophie Susen , Javier Martinez-Picado , Didier Raoult , Marc Vasse , Peter Gregersen , Carlos Rodríguez-Gallego , Lorenzo Piemonti , Luigi Notarangelo , Helen Su , Kai Kisand , Satoshi Okada , Anne Puel , Emmanuelle Jouanguy , Charles Rice , Pierre Tiberghien , Qian Zhang , Jean-Laurent Casanova , Laurent Abel , Aurélie Cobat

Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: William Dufour , Salem Alawbathani , Anne-Sophie Jourdain , Maria Asif , Geneviève Baujat , Christian Becker , Birgit Budde , Lyndon Gallacher , Theodoros Georgomanolis , Jamal Ghoumid , Wolfgang Höhne , Iman Ali Ba-Saddik , Sylvie Manouvrier-Hanu , Susanne Motameny , Angelika A Noegel , Lynn Pais , Clémence Vanlerberghe , Prerana Wagle , Susan M White , Marjolaine Willems , Peter Nürnberg , Fabienne Escande , Florence Petit , Muhammad Sajid Hussain

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.

Science (New York, N.Y.)
Avec: András N Spaan , Anna-Lena Neehus , Emmanuel Laplantine , Frederik Staels , Masato Ogishi , Yoann Seeleuthner , Franck Rapaport , Keenan A Lacey , Erika Van Nieuwenhove , Maya Chrabieh , David Hum , Mélanie Migaud , Araksya Izmiryan , Lazaro Lorenzo , Tatiana Kochetkov , Dani A C Heesterbeek , Bart W Bardoel , Ashley L DuMont , Kerry Dobbs , Solenne Chardonnet , Søren Heissel , Timour Baslan , Peng Zhang , Rui Yang , Dusan Bogunovic , Herman F Wunderink , Pieter-Jan A Haas , Henrik Molina , Griet Van Buggenhout , Luigi D Notarangelo , Mikko R J Seppänen , Robert Weil , Gisela Seminario , Héctor Gomez-Tello , Carine Wouters , Mehrnaz Mesdaghi , Mohammad Shahrooei , Xavier Bossuyt , Erdal Sag , Rezan Topaloglu , Seza Ozen , Helen L Leavis , Maarten M J van Eijk , Liliana Bezrodnik , Lizbeth Blancas Galicia , Alain Hovnanian , Aude Nassif , Brigitte Bader-Meunier , Bénédicte Neven , Isabelle Meyts , Rik Schrijvers , Anne Puel , Jacinta Bustamante , Ivona Aksentijevich , Daniel L Kastner , Victor J Torres , Stéphanie Humblet-Baron , Adrian Liston , Laurent Abel , Bertrand Boisson , Jean-Laurent Casanova

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

PLoS genetics
Avec: 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 , René M H Wijnen , Jeanne Amiel , Maria-Mercè Garcia-Barcelo , Paul K H Tam , Maria M Alves , Alice S Brooks , Robert M W Hofstra , Erwin Brosens

Journal of medical genetics
Avec: Laurence Hubert , Magda Cannata Serio , Laure Villoing-Gaudé , Nathalie Boddaert , Anna Kaminska , Marlène Rio , Arnold Munnich , Karine Poirier , Matias Simons , Claude Besmond

Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.

Journal of biomedical informatics
Avec: Xiaoyi Chen , Nicolas Garcelon , Antoine Neuraz , Katy Billot , Marc Lelarge , Thomas Bonald , Hugo Garcia , Yoann Martin , Vincent Benoit , Marc Vincent , Hassan Faour , Maxime Douillet , Sophie Saunier , Anita Burgun

PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.

Human molecular genetics
Avec: Anna Pelet , Vaclava Skopova , Ulrike Steuerwald , Veronika Baresova , Mohammed Zarhrate , Jean-Marc Plaza , Ales Hnizda , Matyas Krijt , Olga Souckova , Flemming Wibrand , Guðrið Andorsdóttir , Fróði Joensen , David Sedlak , Anthony J Bleyer , Stanislav Kmoch , Marie Zikanova

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

American journal of human genetics
Avec: Benjamin Cogné , Sophie Ehresmann , Eliane Beauregard-Lacroix , Justine Rousseau , Thomas Besnard , Thomas Garcia , Slavé Petrovski , Shiri Avni , Kirsty McWalter , Patrick R Blackburn , Stephan J Sanders , Kévin Uguen , Jacqueline Harris , Julie S Cohen , Moira Blyth , Anna Lehman , Jonathan Berg , Mindy H Li , Usha Kini , Shelagh Joss , Charlotte von der Lippe , Christopher T Gordon , Jennifer B Humberson , Laurie Robak , Daryl A Scott , Vernon R Sutton , Cara M Skraban , Jennifer J Johnston , Annapurna Poduri , Magnus Nordenskjöld , Vandana Shashi , Erica H Gerkes , Ernie M H F Bongers , Christian Gilissen , Yuri A Zarate , Malin Kvarnung , Kevin P Lally , Peggy A Kulch , Brina Daniels , Andres Hernandez-Garcia , Nicholas Stong , Julie McGaughran , Kyle Retterer , Kristian Tveten , Jennifer Sullivan , Madeleine R Geisheker , Asbjorg Stray-Pedersen , Jennifer M Tarpinian , Eric W Klee , Julie C Sapp , Jacob Zyskind , Øystein L Holla , Emma Bedoukian , Francesca Filippini , Anne Guimier , Arnaud Picard , Øyvind L Busk , Jaya Punetha , Rolph Pfundt , Anna Lindstrand , Ann Nordgren , Fayth Kalb , Megha Desai , Ashley Harmon Ebanks , Shalini N Jhangiani , Tammie Dewan , Zeynep H Coban Akdemir , Aida Telegrafi , Elaine H Zackai , Amber Begtrup , Xiaofei Song , Annick Toutain , Ingrid M Wentzensen , Sylvie Odent , Dominique Bonneau , Xénia Latypova , Wallid Deb , Auteur inconnu , Sylvia Redon , Frédéric Bilan , Marine Legendre , Caitlin Troyer , Kerri Whitlock , Oana Caluseriu , Marine I Murphree , Pavel N Pichurin , Katherine Agre , Ralitza Gavrilova , Tuula Rinne , Meredith Park , Catherine Shain , Erin L Heinzen , Rui Xiao , Jeanne Amiel , Bertrand Isidor , Leslie G Biesecker , Dan Lowenstein , Jennifer E Posey , Anne-Sophie Denommé-Pichon , Auteur inconnu , Claude Férec , Xiang-Jiao Yang , Jill A Rosenfeld , Brigitte Gilbert-Dussardier , Séverine Audebert-Bellanger , Richard Redon , Holly A F Stessman , Christoffer Nellaker , Yaping Yang , James R Lupski , David B Goldstein , Evan E Eichler , Francois Bolduc , Stéphane Bézieau , Sébastien Küry , Philippe M Campeau

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 , Valérie Cormier-Daire , David Viskochil , Trevor L Hoffman , Jeanne Amiel , Brian H Y Chung , Christopher T Gordon

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

Blood
Avec: 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 , Yves Colin , Giulia Barcia , Vincent Cantagrel , Caroline Le Van Kim , Olivier Hermine , Taroh Kinoshita , Thierry Peyrard , Slim Azouzi

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Molecular genetics & genomic medicine
Avec: Valentin Ruault , Pauline Burger , Johanna Gradels-Hauguel , Nathalie Ruiz , Auteur inconnu , Rami Abou Jamra , Alexandra Afenjar , Yves Alembik , Jean-Luc Alessandri , Stéphanie Arpin , Giulia Barcia , Šárka Bendová , Ange-Line Bruel , Perrine Charles , Nicolas Chatron , Maya Chopra , Solène Conrad , Valérie Cormier Daire , Auriane Cospain , Christine Coubes , Juliette Coursimault , Andrée Delahaye-Duriez , Martine Doco , William Dufour , Benjamin Durand , Camille Engel , Laurence Faivre , Fanny Ferroul , Mélanie Fradin , Hélène Frenkiel , Carlo Fusco , Livia Garavelli , Aurore Garde , Bénédicte Gerard , David Germanaud , Louise Goujon , Aurélie Gouronc , Emmanuelle Ginglinger , Alice Goldenberg , Miroslava Hancarova , Markéta Havlovicová , Delphine Heron , Bertrand Isidor , Nolwenn Jean Marçais , Boris Keren , Margarete Koch-Hogrebe , Paul Kuentz , Victoria Lamure , Anne-Sophie Lebre , François Lecoquierre , Natacha Lehman , Gaetan Lesca , Delphine Martin , Cyril Mignot , Teresa M Neuhann , Gaël Nicolas , Mathilde Nizon , Florence Petit , Christophe Philippe , Amélie Piton , Marzia Pollazzon , Darina Prchalová , Audrey Putoux , Marlène Rio , Sophie Rondeau , Massimiliano Rossi , Quentin Sabbagh , Pascale Saugier-Veber , Ariane Schmetz , Julie Steffann , Christel Thauvin-Robinet , Annick Toutain , Frederic Tran Mau Them , Gabriele Trimarchi , Marie Vincent , Markéta Vlčková , Dagmar Wieczorek , Marjolaine Willems , Kevin Yauy , Michaela Zelinová , Alban Ziegler , Auteur inconnu , Boris Chaumette , Bekim Sadikovic , Jean-Louis Mandel , David Geneviève

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

American journal of medical genetics. Part A
Avec: Guillaume Jouret , Matthieu Egloff , Emilie Landais , Olivier Tassy , Fabienne Giuliano , Houda Karmous-Benailly , Charles Coutton , Véronique Satre , Françoise Devillard , Klaus Dieterich , Gaëlle Vieville , Paul Kuentz , Cédric le Caignec , Claire Beneteau , Bertrand Isidor , Mathilde Nizon , Patrick Callier , Valentine Marquet , Eric Bieth , Jonathan Lévy , Anne-Claude Tabet , Geneviève Baujat , Marlène Rio , François Cartault , Sophie Scheidecker , Aurélie Gouronc , Audrey Schalk , Clémence Jacquin , Marta Spodenkiewicz , Chloé Angélini , Perrine Pennamen , Caroline Rooryck , Martine Doco-Fenzy , Céline Poirsier

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 , Valérie Cormier-Daire , 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 , 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

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome.

American journal of human genetics
Avec: Eden Engal , Kaisa Teele Oja , Reza Maroofian , Ophir Geminder , Thuy-Linh Le , Pauline Marzin , Anne Guimier , Evyatar Mor , Naama Zvi , Naama Elefant , Maha S Zaki , Joseph G Gleeson , Kai Muru , Sander Pajusalu , Monica H Wojcik , Divya Pachat , Marwa Abd Elmaksoud , Won Chan Jeong , Hane Lee , Peter Bauer , Giovanni Zifarelli , Henry Houlden , Muhannad Daana , Orly Elpeleg , Jeanne Amiel , Christopher T Gordon , Tamar Harel , Katrin Õunap , Maayan Salton , Hagar Mor-Shaked

Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations.

American journal of human genetics
Avec: Sadegheh Haghshenas , Karim Karimi , Roger E Stevenson , Michael A Levy , Raissa Relator , Jennifer Kerkhof , Jessica Rzasa , Haley McConkey , Carolyn Lauzon-Young , Tugce B Balci , Alexandre M White-Brown , Melissa T Carter , Julie Richer , Christine M Armour , Sarah L Sawyer , Priya T Bhola , Matthew L Tedder , Cindy D Skinner , Iris A L M van Rooij , Romy van de Putte , Ivo de Blaauw , Rebekka M Koeck , Alexander Hoischen , Han Brunner , Masoud Zamani Esteki , Anna Pelet , Jeanne Amiel , Kym M Boycott , Bekim Sadikovic

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 , Valérie Cormier-Daire , Maxime Douillet , David J Dunaway , Nu Owase Jeelani , Lara S van de Lande , Juling Ong , Arnaud Picard , Alexander J Rickart , Marlène Rio , Silvia Schievano , Eric Arnaud , Nicolas Garcelon , Roman H Khonsari

Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.

Journal of clinical immunology
Avec: Xiao-Fei Kong , Lisa Worley , Darawan Rinchai , Vincent Bondet , Puthen Veettil Jithesh , Marie Goulet , Emilie Nonnotte , Anne Sophie Rebillat , Martine Conte , Clotilde Mircher , Nicolas Gürtler , Luyan Liu , Mélanie Migaud , Mohammed Elanbari , Tanwir Habib , Cindy S Ma , Jacinta Bustamante , Laurent Abel , Aimé Ravel , Arnold Munnich , Darragh Duffy , Damien Chaussabel , Jean-Laurent Casanova , Stuart G Tangye , Stéphanie Boisson-Dupuis , Anne Puel

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 , Valérie Cormier-Daire , R M W Hofstra , Tiong Yang Tan , Tania Attié-Bitach , Wilhelmina S Kerstjens-Frederikse , Jeanne Amiel , Sophie Thomas

Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Molecular genetics & genomic medicine
Avec: Kévin Uguen , Claire Jubin , Yannis Duffourd , Claire Bardel , Valérie Malan , Jean-Michel Dupont , Laila El Khattabi , Nicolas Chatron , Antonio Vitobello , Pierre-Antoine Rollat-Farnier , Céline Baulard , Marc Lelorch , Aurélie Leduc , Emilie Tisserant , Frédéric Tran Mau-Them , Vincent Danjean , Marc Delepine , Marianne Till , Vincent Meyer , Anne-Laure Mosca-Boidron , Julien Thevenon , Laurence Faivre , Christel Thauvin-Robinet , Caroline Schluth-Bolard , Anne Boland , Robert Olaso , Patrick Callier , Serge Romana , Jean-François Deleuze , Damien Sanlaville

Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype.

American journal of medical genetics. Part A
Avec: Benjamin Dudoignon , Celine Huber , Caroline Michot , Federico Di Rocco , Muriel Girard , Marlène Rio , Smail Hadj Rabia , Valérie Cormier Daire , Geneviève Baujat

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 , 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

Autoantibodies neutralizing type I IFNs are present in

Science immunology
Avec: Paul Bastard , Adrian Gervais , Tom Le Voyer , Jérémie Rosain , Quentin Philippot , Jérémy Manry , Eleftherios Michailidis , Hans-Heinrich Hoffmann , Shohei Eto , Marina Garcia-Prat , Lucy Bizien , Alba Parra-Martínez , Rui Yang , Liis Haljasmägi , Mélanie Migaud , Karita Särekannu , Julia Maslovskaja , Nicolas de Prost , Yacine Tandjaoui-Lambiotte , Charles-Edouard Luyt , Blanca Amador-Borrero , Alexandre Gaudet , Julien Poissy , Pascal Morel , Pascale Richard , Fabrice Cognasse , Jesus Troya , Sophie Trouillet-Assant , Alexandre Belot , Kahina Saker , Pierre Garçon , Jacques G Rivière , Jean-Christophe Lagier , Stéphanie Gentile , Lindsey B Rosen , Elana Shaw , Tomohiro Morio , Junko Tanaka , David Dalmau , Pierre-Louis Tharaux , Damien Sene , Alain Stepanian , Bruno Megarbane , Vasiliki Triantafyllia , Arnaud Fekkar , James R Heath , José Luis Franco , Juan-Manuel Anaya , Jordi Solé-Violán , Luisa Imberti , Andrea Biondi , Paolo Bonfanti , Riccardo Castagnoli , Ottavia M Delmonte , Yu Zhang , Andrew L Snow , Steven M Holland , Catherine Biggs , Marcela Moncada-Vélez , Andrés Augusto Arias , Lazaro Lorenzo , Soraya Boucherit , Boubacar Coulibaly , Dany Anglicheau , Anna M Planas , Filomeen Haerynck , Sotirija Duvlis , Robert L Nussbaum , Tayfun Ozcelik , Sevgi Keles , Ahmed A Bousfiha , Jalila El Bakkouri , Carolina Ramirez-Santana , Stéphane Paul , Qiang Pan-Hammarström , Lennart Hammarström , Annabelle Dupont , Alina Kurolap , Christine N Metz , Alessandro Aiuti , Giorgio Casari , Vito Lampasona , Fabio Ciceri , Lucila A Barreiros , Elena Dominguez-Garrido , Mateus Vidigal , Mayana Zatz , Diederik van de Beek , Sabina Sahanic , Ivan Tancevski , Yurii Stepanovskyy , Oksana Boyarchuk , Yoko Nukui , Miyuki Tsumura , Loreto Vidaur , Stuart G Tangye , Sonia Burrel , Darragh Duffy , Lluis Quintana-Murci , Adam Klocperk , Nelli Y Kann , Anna Shcherbina , Yu-Lung Lau , Daniel Leung , Matthieu Coulongeat , Julien Marlet , Rutger Koning , Luis Felipe Reyes , Angélique Chauvineau-Grenier , Fabienne Venet , Guillaume Monneret , Michel C Nussenzweig , Romain Arrestier , Idris Boudhabhay , Hagit Baris-Feldman , David Hagin , Joost Wauters , Isabelle Meyts , Adam H Dyer , Sean P Kennelly , Nollaig M Bourke , Rabih Halwani , Narjes Saheb Sharif-Askari , Karim Dorgham , Jérome Sallette , Souad Mehlal Sedkaoui , Suzan AlKhater , Raúl Rigo-Bonnin , Francisco Morandeira , Lucie Roussel , Donald C Vinh , Sisse Rye Ostrowski , Antonio Condino-Neto , Carolina Prando , Anastasiia Bonradenko , András N Spaan , Laurent Gilardin , Jacques Fellay , Kaya Bilguvar , Richard P Lifton , Shrikant Mane , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Mark S Anderson , Bertrand Boisson , Vivien Béziat , Shen-Ying Zhang , Evangelos Vandreakos , Olivier Hermine , Aurora Pujol , Pärt Peterson , Trine H Mogensen , Lee Rowen , James Mond , Stéphanie Debette , Xavier de Lamballerie , Xavier Duval , France Mentré , Marie Zins , Pere Soler-Palacin , Roger Colobran , Guy Gorochov , Xavier Solanich , Sophie Susen , Javier Martinez-Picado , Didier Raoult , Marc Vasse , Peter K Gregersen , Lorenzo Piemonti , Carlos Rodríguez-Gallego , Luigi D Notarangelo , Helen C Su , Kai Kisand , Satoshi Okada , Anne Puel , Emmanuelle Jouanguy , Charles M Rice , Pierre Tiberghien , Qian Zhang , Aurélie Cobat , Laurent Abel , Jean-Laurent Casanova

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies.

Proceedings of the National Academy of Sciences of the United States of America
Avec: Jérémy Manry , Paul Bastard , Adrian Gervais , Tom Le Voyer , Jérémie Rosain , Quentin Philippot , Eleftherios Michailidis , Hans-Heinrich Hoffmann , Shohei Eto , Marina Garcia-Prat , Lucy Bizien , Alba Parra-Martínez , Rui Yang , Liis Haljasmägi , Mélanie Migaud , Karita Särekannu , Julia Maslovskaja , Nicolas de Prost , Yacine Tandjaoui-Lambiotte , Charles-Edouard Luyt , Blanca Amador-Borrero , Alexandre Gaudet , Julien Poissy , Pascal Morel , Pascale Richard , Fabrice Cognasse , Jesús Troya , Sophie Trouillet-Assant , Alexandre Belot , Kahina Saker , Pierre Garçon , Jacques G Rivière , Jean-Christophe Lagier , Stéphanie Gentile , Lindsey B Rosen , Elana Shaw , Tomohiro Morio , Junko Tanaka , David Dalmau , Pierre-Louis Tharaux , Damien Sene , Alain Stepanian , Bruno Mégarbane , Vasiliki Triantafyllia , Arnaud Fekkar , James R Heath , José Luis Franco , Juan-Manuel Anaya , Jordi Solé-Violán , Luisa Imberti , Andrea Biondi , Paolo Bonfanti , Riccardo Castagnoli , Ottavia M Delmonte , Yu Zhang , Andrew L Snow , Steven M Holland , Catherine M Biggs , Marcela Moncada-Vélez , Andrés Augusto Arias , Lazaro Lorenzo , Soraya Boucherit , Dany Anglicheau , Anna M Planas , Filomeen Haerynck , Sotirija Duvlis , Tayfun Ozcelik , Sevgi Keles , Ahmed A Bousfiha , Jalila El Bakkouri , Carolina Ramirez-Santana , Stéphane Paul , Qiang Pan-Hammarström , Lennart Hammarström , Annabelle Dupont , Alina Kurolap , Christine N Metz , Alessandro Aiuti , Giorgio Casari , Vito Lampasona , Fabio Ciceri , Lucila A Barreiros , Elena Dominguez-Garrido , Mateus Vidigal , Mayana Zatz , Diederik van de Beek , Sabina Sahanic , Ivan Tancevski , Yurii Stepanovskyy , Oksana Boyarchuk , Yoko Nukui , Miyuki Tsumura , Loreto Vidaur , Stuart G Tangye , Sonia Burrel , Darragh Duffy , Lluis Quintana-Murci , Adam Klocperk , Nelli Y Kann , Anna Shcherbina , Yu-Lung Lau , Daniel Leung , Matthieu Coulongeat , Julien Marlet , Rutger Koning , Luis Felipe Reyes , Angélique Chauvineau-Grenier , Fabienne Venet , Guillaume Monneret , Michel C Nussenzweig , Romain Arrestier , Idris Boudhabhay , Hagit Baris-Feldman , David Hagin , Joost Wauters , Isabelle Meyts , Adam H Dyer , Sean P Kennelly , Nollaig M Bourke , Rabih Halwani , Fatemeh Saheb Sharif-Askari , Karim Dorgham , Jérôme Sallette , Souad Mehlal Sedkaoui , Suzan AlKhater , Raúl Rigo-Bonnin , Francisco Morandeira , Lucie Roussel , Donald C Vinh , Christian Erikstrup , Antonio Condino-Neto , Carolina Prando , Anastasiia Bondarenko , András N Spaan , Laurent Gilardin , Jacques Fellay , Kaya Bilguvar , Richard P Lifton , Shrikant Mane , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Auteur inconnu , Mark S Anderson , Bertrand Boisson , Vivien Béziat , Shen-Ying Zhang , Evangelos Andreakos , Olivier Hermine , Aurora Pujol , Pärt Peterson , Trine H Mogensen , Lee Rowen , James Mond , Stéphanie Debette , Xavier de Lamballerie , Charles Burdet , Lila Bouadma , Marie Zins , Pere Soler-Palacin , Roger Colobran , Guy Gorochov , Xavier Solanich , Sophie Susen , Javier Martinez-Picado , Didier Raoult , Marc Vasse , Peter K Gregersen , Lorenzo Piemonti , Carlos Rodríguez-Gallego , Luigi D Notarangelo , Helen C Su , Kai Kisand , Satoshi Okada , Anne Puel , Emmanuelle Jouanguy , Charles M Rice , Pierre Tiberghien , Qian Zhang , Jean-Laurent Casanova , Laurent Abel , Aurélie Cobat

TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.

Frontiers in molecular neuroscience
Avec: 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 , Malcolm P Logan , Allan M Goldstein , Megan G Davey , Robert M W Hofstra , Nikhil Thapar , Alan J Burns

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 , Valérie Cormier-Daire , Nicolas Garcelon

Neurodevelopmental disorders (NDD) without boundaries: research and interventions beyond classifications.

Journal of neural transmission (Vienna, Austria : 1996)
Avec: Cécile Louveau , Pierre Ellul , Anton Iftimovici , Julien Dubreucq , Charles Laidi , Quentin Leyrolle , Diane Purper-Ouakil , Sebastien Jacquemont , Catherine Barthélémy , Marie-Odile Krebs , Jing Bai , Paul Olivier , Boris Chaumette

AI-based diagnosis in mandibulofacial dysostosis with microcephaly using external ear shapes.

Frontiers in pediatrics
Avec: Quentin Hennocq , Thomas Bongibault , Sandrine Marlin , Jeanne Amiel , Tania Attie-Bitach , Geneviève Baujat , Lucile Boutaud , Georges Carpentier , Pierre Corre , Françoise Denoyelle , François Djate Delbrah , Maxime Douillet , Eva Galliani , Wuttichart Kamolvisit , Dan Milea , Véronique Pingault , Thantrira Porntaveetus , Sandrine Touzet-Roumazeille , Marjolaine Willems , Arnaud Picard , Marlène Rio , Nicolas Garcelon , Roman H Khonsari

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

BMC oral health
Avec: Lisa Friedlander , Ariane Berdal , Valérie Cormier-Daire , Nicolas Garcelon

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Quentin Sabbagh , Sadegheh Haghshenas , Juliette Piard , Chloé Trouvé , Jeanne Amiel , Tania Attié-Bitach , Tugce Balci , Mouna Barat-Houari , Alyce Belonis , Odile Boute , Diana S Brightman , Ange-Line Bruel , Stefano Giuseppe Caraffi , Nicolas Chatron , Corinne Collet , William Dufour , Patrick Edery , Chin-To Fong , Carlo Fusco , Vincent Gatinois , Evan Gouy , Anne-Marie Guerrot , Solveig Heide , Aakash Joshi , Natalya Karp , Boris Keren , Marion Lesieur-Sebellin , Jonathan Levy , Michael A Levy , Claire Lozano , Henri Margot , Pauline Marzin , Haley McConkey , Vincent Michaud , Gaël Nicolas , Mevyn Nizard , Alix Paulet , Francesca Peluso , Vincent Pernin , Laurence Perrin , Christophe Philippe , Chitra Prasad , Madhavi Prasad , Raissa Relator , Marlène Rio , Sophie Rondeau , Valentin Ruault , Nathalie Ruiz-Pallares , Elodie Sanchez , Debbie Shears , Victoria Mok Siu , Arthur Sorlin , Matthew Tedder , Mylène Tharreau , Frédéric Tran Mau-Them , Liselot van der Laan , Julien Van Gils , Alain Verloes , Sandra Whalen , Marjolaine Willems , Kévin Yauy , Roberta Zuntini , Jennifer Kerkhof , Bekim Sadikovic , David Geneviève

HDR syndrome: Large cohort and systematic review.

Clinical genetics
Avec: Nicolas Rive Le Gouard , Valentin Lafond-Rive , Laurence Jonard , Natalie Loundon , Sophie Achard , Laurence Heidet , Isabelle Mosnier , Frederic Brioude , Margaux Serey Gaut , Sandrine Marlin

Fraser syndrome without cryptophthalmos: Two cases.

European journal of medical genetics
Avec: S Boussion , S Lyonnet , B Van Der Zwaag , M J Vogel , T Smol , A Mezel , S Manouvrier-Hanu , C Vincent-Delorme , C Vanlerberghe

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 , Valérie Cormier-Daire , 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 , 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

Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.

Orphanet journal of rare diseases
Avec: Véronique Abadie , Priscilla Hamiaux , Stéphanie Ragot , Marine Legendre , Gaelle Malecot , Alexia Burtin , Tania Attie-Bitach , Frédéric Bilan , Brigitte Gilbert-Dussardier , Laurence Vaivre-Douret

Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.

Nature communications
Avec: Najim Lahrouchi , Aman George , Ilham Ratbi , Ronen Schneider , Siham C Elalaoui , Shahida Moosa , Sanita Bharti , Ruchi Sharma , Mones Abu-Asab , Felix Onojafe , Najlae Adadi , Elisabeth M Lodder , Fatima-Zahra Laarabi , Yassine Lamsyah , Hamza Elorch , Imane Chebbar , Alex V Postma , Vassilios Lougaris , Alessandro Plebani , Janine Altmueller , Henriette Kyrieleis , Vardiella Meiner , Helen McNeill , Kapil Bharti , Bernd Wollnik , Alexandra Henrion-Caude , Amina Berraho , Friedhelm Hildebrandt , Connie R Bezzina , Brian P Brooks , Abdelaziz Sefiani

Anatomical and functional abnormalities on MRI in kabuki syndrome.

NeuroImage. Clinical
Avec: Jennifer Boisgontier , Jean Marc Tacchella , Hervé Lemaître , Natacha Lehman , Ana Saitovitch , Vincent Gatinois , Guilaine Boursier , Elodie Sanchez , Elza Rechtman , Ludovic Fillon , Kim-Hanh Le Quang Sang , Genevieve Baujat , Marlene Rio , Odile Boute , Laurence Faivre , Elise Schaefer , Damien Sanlaville , Monica Zilbovicius , David Grévent , David Geneviève , Nathalie Boddaert

[Child psychiatry interventions in patients with 22q11 deletion syndrome: From treatment to prevention].

L'Encephale
Avec: A Novo , L Woestelandt , B Rousselot-Pailley , M Leitgel , J Eutrope , M Rio , S Lyonnet , L Robel

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 , Valérie Cormier-Daire , Caroline Michot , Christine Bole-Feysot , Arnaud Picard , Véronique Soupre , Jeremy Sadoine , Lotfi Slimani , Catherine Chaussain , Cécile Laroche-Raynaud , Laurent Guibaud , Christine Broissand , Jeanne Amiel , Christophe Legendre , Fabiola Terzi , Guillaume Canaud

Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.

American journal of human genetics
Avec: Alban Ziegler , Rémi Duclaux-Loras , Céline Revenu , Fabienne Charbit-Henrion , Bernadette Begue , Karine Duroure , Linda Grimaud , Anne Laure Guihot , Valérie Desquiret-Dumas , Mohammed Zarhrate , Nicolas Cagnard , Emmanuel Mas , Anne Breton , Thomas Edouard , Clarisse Billon , Michael Frank , Estelle Colin , Guy Lenaers , Daniel Henrion , Laurence Faivre , Yves Alembik , Anaïs Philippe , Bruno Moulin , Eyal Reinstein , Shay Tzur , Ruben Attali , George McGillivray , Susan M White , Lyndon Gallacher , Kerstin Kutsche , Pauline Schneeberger , Katta M Girisha , Shalini S Nayak , Lynn Pais , Reza Maroofian , Aboulfazl Rad , Barbara Vona , Ehsan Ghayoor Karimiani , Caroline Lekszas , Thomas Haaf , Ludovic Martin , Frank Ruemmele , Dominique Bonneau , Nadine Cerf-Bensussan , Filippo Del Bene , Marianna Parlato

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

The Journal of clinical investigation
Avec: 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 , Jeanne Amiel , Nadège Bondurand

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Birth defects research
Avec: Suzanne Chartier , Lucile Boutaud , Edouard Le Guillou , Caroline Alby , Clarisse Billon , Anne-Elodie Millischer , Catherine Caillaud , Louise Galmiche , Charlotte Mechler , Pascale Sonigo , Nathalie Boddaert , Sophie Rondeau , Christine Bole-Feysot , Cécile Masson , Yves Ville , Philippe Roth , Isabelle Desguerre , Férechté Encha-Razavi , Tania Attie-Bitach

Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis.

Frontiers in pharmacology
Avec: Xiaoyi Chen , Carole Faviez , Marc Vincent , Luis Briseño-Roa , Hassan Faour , Jean-Philippe Annereau , Mohamad Zaidan , Sophie Saunier , Nicolas Garcelon , Anita Burgun

Variants in

HGG advances
Avec: Andrew K Sobering , Laura M Bryant , Dong Li , Julie McGaughran , Isabelle Maystadt , Stephanie Moortgat , John M Graham , Arie van Haeringen , Claudia Ruivenkamp , Roos Cuperus , Julie Vogt , Jenny Morton , Charlotte Brasch-Andersen , Maria Steenhof , Lars Kjærsgaard Hansen , Élodie Adler , Veronique Pingault , Marlin Sandrine , Alban Ziegler , Tyhiesia Donald , Beverly Nelson , Brandon Holt , Oleksandra Petryna , Helen Firth , Kirsty McWalter , Jacob Zyskind , Aida Telegrafi , Jane Juusola , Richard Person , Michael J Bamshad , Dawn Earl , Auteur inconnu , Anne Chun-Hui Tsai , Katherine R Yearwood , Elysa Marco , Catherine Nowak , Jessica Douglas , Hakon Hakonarson , Elizabeth J Bhoj

Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.

European journal of human genetics : EJHG
Avec: Maya Chopra , Richard Caswell , Giulia Barcia , Sophie Rondeau , Laurence Jonard , Patrick Nitchké , Daniel Amram , Marc-Lionel Bellaiche , Veronique Abadie , Marine Parodi , Francoise Denoyelle , Andrew Hattersley , Christine Bole , Sandrine Marlin

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 , Valérie Cormier-Daire , Véronique Abadie , Sabine Sarnacki , Christophe Delacourt , Tania Attié-Bitach , Véronique Pingault , Véronique Rousseau , Jeanne Amiel

Erratum: Variants in

HGG advances
Avec: Andrew K Sobering , Laura M Bryant , Dong Li , Julie McGaughran , Isabelle Maystadt , Stephanie Moortgat , John M Graham , Arie van Haeringen , Claudia Ruivenkamp , Roos Cuperus , Julie Vogt , Jenny Morton , Charlotte Brasch-Andersen , Maria Steenhof , Lars Kjærsgaard Hansen , Élodie Adler , Veronique Pingault , Marlin Sandrine , Alban Ziegler , Tyhiesia Donald , Beverly Nelson , Brandon Holt , Oleksandra Petryna , Helen Firth , Kirsty McWalter , Jacob Zyskind , Aida Telegrafi , Jane Juusola , Richard Person , Michael J Bamshad , Dawn Earl , Auteur inconnu , Anne Chun-Hui Tsai , Katherine R Yearwood , Elysa Marco , Catherine Nowak , Jessica Douglas , Hakon Hakonarson , Elizabeth J Bhoj

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 , Valérie Cormier-Daire , Jeanne Amiel , Sandrine Marlin , Marlène Rio , Arnaud Picard , Roman Hossein Khonsari , Nicolas Garcelon

Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.

International journal of pediatric otorhinolaryngology
Avec: L Rhamati , A Marcolla , A M Guerrot , Y Lerosey , A Goldenberg , M Serey-Gaut , M Rio , V Cormier Daire , G Baujat , S Lyonnet , E Rubinato , L Jonard , S Rondeau , I Rouillon , V Couloignier , M L Jacquemont , D Dupin Deguine , S Moutton , M Vincent , B Isidor , A Ziegler , J P Marie , S Marlin

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 , Valérie Cormier-Daire , Tania Attié-Bitach , Sophie Saunier , Anita Burgun

Réseau de co-auteurs

None None 51 collaborations
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