Elise Brischoux-Boucher

Affiliations
  • Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.
ORCID: 0000-0002-4816-1431

Publications (29)

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.

European journal of human genetics : EJHG
Avec: Sandra Whalen , Marie Shaw , Cyril Mignot , Delphine Héron , Sandra Chantot Bastaraud , Cecile Cieuta Walti , Jan Liebelt , Frances Elmslie , Patrick Yap , Jane Hurst , Elisabeth Forsythe , Brian Kirmse , Jillian Ozmore , Alessandro Mauro Spinelli , Olga Calabrese , Thierry Billette de Villemeur , Anne Claude Tabet , Jonathan Levy , Agnes Guet , Manoëlle Kossorotoff , Benjamin Kamien , Jenny Morton , Anne McCabe , Elise Brischoux-Boucher , Annick Raas-Rothschild , Antonella Pini , Renée Carroll , Jessica N Hartley , Auteur inconnu , Patrick Frosk , Anne Slavotinek , Kristen Truxal , Carroll Jennifer , Annelies Dheedene , Hong Cui , Vishal Kumar , Glen Thomson , Florence Riccardi , Jozef Gecz , Laurent Villard

uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndrome.

Human mutation
Avec: Juliette Coursimault , Anne Rovelet-Lecrux , Kévin Cassinari , Elise Brischoux-Boucher , Pascale Saugier-Veber , Alice Goldenberg , François Lecoquierre , Nathalie Drouot , Anne-Claire Richard , Gabriella Vera , Sophie Coutant , Olivier Quenez , Marion Rolain , Céline Bonnet , Myriam Bronner , Magalie Lecourtois , Gaël Nicolas

Rare pathogenic variants in WNK3 cause X-linked intellectual disability.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Sébastien Küry , Jinwei Zhang , Thomas Besnard , Alfonso Caro-Llopis , Xue Zeng , Stephanie M Robert , Sunday S Josiah , Emre Kiziltug , Anne-Sophie Denommé-Pichon , Benjamin Cogné , Adam J Kundishora , Le T Hao , Hong Li , Roger E Stevenson , Raymond J Louie , Wallid Deb , Erin Torti , Virginie Vignard , Kirsty McWalter , F Lucy Raymond , Farrah Rajabi , Emmanuelle Ranza , Detelina Grozeva , Stephanie A Coury , Xavier Blanc , Elise Brischoux-Boucher , Boris Keren , Katrin Õunap , Karit Reinson , Pilvi Ilves , Ingrid M Wentzensen , Eileen E Barr , Solveig Heide Guihard , Perrine Charles , Eleanor G Seaby , Kristin G Monaghan , Marlène Rio , Yolande van Bever , Marjon van Slegtenhorst , Wendy K Chung , Ashley Wilson , Delphine Quinquis , Flora Bréhéret , Kyle Retterer , Pierre Lindenbaum , Emmanuel Scalais , Lindsay Rhodes , Katrien Stouffs , Elaine M Pereira , Sara M Berger , Sarah S Milla , Ankita B Jaykumar , Melanie H Cobb , Shreyas Panchagnula , Phan Q Duy , Marie Vincent , Sandra Mercier , Brigitte Gilbert-Dussardier , Xavier Le Guillou , Séverine Audebert-Bellanger , Sylvie Odent , Sébastien Schmitt , Pierre Boisseau , Dominique Bonneau , Annick Toutain , Estelle Colin , Laurent Pasquier , Richard Redon , Arjan Bouman , Jill A Rosenfeld , Michael J Friez , Helena Pérez-Peña , Syed Raza Akhtar Rizvi , Shozeb Haider , Stylianos E Antonarakis , Charles E Schwartz , Francisco Martínez , Stéphane Bézieau , Kristopher T Kahle , Bertrand Isidor

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.

EBioMedicine
Avec: Abdelkader Heddar , Cagri Ogur , Sabrina Da Costa , Inès Braham , Line Billaud-Rist , Necati Findikli , Claire Beneteau , Rachel Reynaud , Khaled Mahmoud , Stéphanie Legrand , Maud Marchand , Isabelle Cedrin-Durnerin , Adèle Cantalloube , Maeliss Peigne , Marion Bretault , Benedicte Dagher-Hayeck , Sandrine Perol , Celine Droumaguet , Sabri Cavkaytar , Carole Nicolas-Bonne , Hanen Elloumi , Mohamed Khrouf , Charlotte Rougier-LeMasle , Melanie Fradin , Elsa Le Boette , Perrine Luigi , Anne-Marie Guerrot , Emmanuelle Ginglinger , Amandine Zampa , Anais Fauconnier , Nathalie Auger , Françoise Paris , Elise Brischoux-Boucher , Christelle Cabrol , Aurore Brun , Laura Guyon , Melanie Berard , Axelle Riviere , Nicolas Gruchy , Sylvie Odent , Brigitte Gilbert-Dussardier , Bertrand Isidor , Juliette Piard , Laetitia Lambert , Samir Hamamah , Anne Marie Guedj , Aude Brac de la Perriere , Hervé Fernandez , Marie-Laure Raffin-Sanson , Michel Polak , Hélène Letur , Sylvie Epelboin , Genevieve Plu-Bureau , Sławomir Wołczyński , Sylvie Hieronimus , Kristiina Aittomaki , Sophie Catteau-Jonard , Micheline Misrahi

Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition.

Clinical genetics
Avec: Elise Brischoux-Boucher , Eric Dahlen , Céline Gronier , François Nobili , Estelle Marcoux , Fowzan S Alkuraya , Lionel Van Maldergem

Increasing knowledge in

Journal of medical genetics
Avec: Eloïse Giabicani , Marjolaine Willems , Virginie Steunou , Sandra Chantot-Bastaraud , Nathalie Thibaud , Walid Abi Habib , Salah Azzi , Bich Lam , Laurence Bérard , Hélène Bony-Trifunovic , Cécile Brachet , Elise Brischoux-Boucher , Emmanuelle Caldagues , Regis Coutant , Marie-Laure Cuvelier , Georges Gelwane , Isabelle Guemas , Muriel Houang , Bertrand Isidor , Claire Jeandel , James Lespinasse , Catherine Naud-Saudreau , Monique Jesuran-Perelroizen , Laurence Perrin , Juliette Piard , Claire Sechter , Pierre-François Souchon , Caroline Storey , Domitille Thomas , Yves Le Bouc , Sylvie Rossignol , Irène Netchine , Frédéric Brioude

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Mehdi Benkirane , Cecilia Marelli , Claire Guissart , Agathe Roubertie , Elizabeth Ollagnon , Ariane Choumert , Frédérique Fluchère , Fabienne Ory Magne , Yosra Halleb , Mathilde Renaud , Lise Larrieu , David Baux , Olivier Patat , Idriss Bousquet , Jean-Marie Ravel , Danielle Cuntz-Shadfar , Catherine Sarret , Xavier Ayrignac , Anne Rolland , Raoul Morales , Morgane Pointaux , Cathy Lieutard-Haag , Brice Laurens , Caroline Tillikete , Emilien Bernard , Martial Mallaret , Clarisse Carra-Dallière , Christine Tranchant , Pierre Meyer , Lena Damaj , Laurent Pasquier , Cecile Acquaviva , Annabelle Chaussenot , Bertrand Isidor , Karine Nguyen , William Camu , Alexandre Eusebio , Nicolas Carrière , Audrey Riquet , Eric Thouvenot , Victoria Gonzales , Emilie Carme , Shahram Attarian , Sylvie Odent , Anna Castrioto , Claire Ewenczyk , Perrine Charles , Laurent Kremer , Samira Sissaoui , Nadia Bahi-Buisson , Elsa Kaphan , Adrian Degardin , Bérénice Doray , Sophie Julia , Ganaëlle Remerand , Valerie Fraix , Lydia Abou Haidar , Leila Lazaro , Vincent Laugel , Frederic Villega , Cyril Charlin , Solène Frismand , Marinha Costa Moreira , Tatiana Witjas , Christine Francannet , Ulrike Walther-Louvier , Mélanie Fradin , Brigitte Chabrol , Joel Fluss , Eric Bieth , Giovanni Castelnovo , Sylvain Vergnet , Isabelle Meunier , Alain Verloes , Elise Brischoux-Boucher , Christine Coubes , David Geneviève , Nicolas Lebouc , Jean Phillipe Azulay , Mathieu Anheim , Cyril Goizet , François Rivier , Pierre Labauge , Patrick Calvas , Michel Koenig

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

American journal of human genetics
Avec: Sanaa Choufani , Vanda McNiven , Cheryl Cytrynbaum , Maryam Jangjoo , Margaret P Adam , Hans T Bjornsson , Jacqueline Harris , David A Dyment , Gail E Graham , Marjan M Nezarati , Ritu B Aul , Claudia Castiglioni , Jeroen Breckpot , Koen Devriendt , Helen Stewart , Benito Banos-Pinero , Sarju Mehta , Richard Sandford , Carolyn Dunn , Remi Mathevet , Lionel van Maldergem , Juliette Piard , Elise Brischoux-Boucher , Antonio Vitobello , Laurence Faivre , Marie Bournez , Frederic Tran-Mau , Isabelle Maystadt , Alberto Fernández-Jaén , Sara Alvarez , Irene Díez García-Prieto , Fowzan S Alkuraya , Hessa S Alsaif , Zuhair Rahbeeni , Karen El-Akouri , Mariam Al-Mureikhi , Rebecca C Spillmann , Vandana Shashi , Pedro A Sanchez-Lara , John M Graham , Amy Roberts , Odelia Chorin , Gilad D Evrony , Minna Kraatari-Tiri , Tracy Dudding-Byth , Anamaria Richardson , David Hunt , Laura Hamilton , Sarah Dyack , Bryce A Mendelsohn , Nicolás Rodríguez , Rosario Sánchez-Martínez , Jair Tenorio-Castaño , Julián Nevado , Pablo Lapunzina , Pilar Tirado , Maria-Teresa Carminho Amaro Rodrigues , Lina Quteineh , A Micheil Innes , Antonie D Kline , P Y Billie Au , Rosanna Weksberg

Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.

Human genomics
Avec: Valerie Jacquemin , Nassim Versbraegen , Sarah Duerinckx , Annick Massart , Julie Soblet , Camille Perazzolo , Nicolas Deconinck , Elise Brischoux-Boucher , Anne De Leener , Nicole Revencu , Sandra Janssens , Stèphanie Moorgat , Bettina Blaumeiser , Kristiina Avela , Renaud Touraine , Imad Abou Jaoude , Kathelijn Keymolen , Pascale Saugier-Veber , Tom Lenaerts , Marc Abramowicz , Isabelle Pirson

Multiplex targeted high-throughput sequencing in a series of 352 patients with congenital limb malformations.

Human mutation
Avec: Anne-Sophie Jourdain , Florence Petit , Marie-Françoise Odou , Malika Balduyck , Perrine Brunelle , William Dufour , Simon Boussion , Elise Brischoux-Boucher , Cindy Colson , Anne Dieux , Marion Gérard , Jamal Ghoumid , Fabienne Giuliano , Alice Goldenberg , Philippe Khau Van Kien , Daphné Lehalle , Gilles Morin , Sébastien Moutton , Thomas Smol , Clémence Vanlerberghe , Sylvie Manouvrier-Hanu , Fabienne Escande

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 , 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

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 , Stanislas Lyonnet , Damien Sanlaville , David Genevieve

Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.

Journal of medical genetics
Avec: Francesca Peluso , Stefano G Caraffi , Gianluca Contrò , Lara Valeri , Manuela Napoli , Giorgia Carboni , Alka Seth , Roberta Zuntini , Emanuele Coccia , Guja Astrea , Anne-Marie Bisgaard , Ivan Ivanovski , Silvia Maitz , Elise Brischoux-Boucher , Melissa T Carter , Maria Lisa Dentici , Koenraad Devriendt , Melissa Bellini , Maria Cristina Digilio , Asif Doja , David A Dyment , Stense Farholt , Carlos R Ferreira , Lynne A Wolfe , William A Gahl , Maria Gnazzo , Himanshu Goel , Sabine Weller Grønborg , Trine Hammer , Lorenzo Iughetti , Tjitske Kleefstra , David A Koolen , Francesca Romana Lepri , Gabrielle Lemire , Pedro Louro , Gary McCullagh , Simona F Madeo , Annarita Milone , Roberta Milone , Jens Erik Klint Nielsen , Antonio Novelli , Charlotte W Ockeloen , Rosario Pascarella , Tommaso Pippucci , Ivana Ricca , Stephen P Robertson , Sarah Sawyer , Marie Falkenberg Smeland , Sander Stegmann , Constanze T Stumpel , Amy Goel , Juliet M Taylor , Domenico Barbuti , Annarosa Soresina , Maria Francesca Bedeschi , Roberta Battini , Anna Cavalli , Carlo Fusco , Maria Iascone , Lionel Van Maldergem , Sunita Venkateswaran , Orsetta Zuffardi , Samantha Vergano , Livia Garavelli , Allan Bayat

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

Research square
Avec: David Picketts , Ghayda Mirzaa , Keqin Yan , Raissa Relator , Sara Timpano , Binnaz Yalcin , Stephan Collins , Alban Ziegler , Emily Pao , Nora Oyama , Elise Brischoux-Boucher , Juliette Piard , Kristin Monaghan , Maria Guillen Sacoto , William Dobyns , Kristen Park , Daniel Fernández-Mayoralas , Alberto Fernández-Jaén , Parul Jayakar , Alfredo Brusco , Vincenzo Antona , Elisa Giorgio , Malin Kvarnung , Bertrand Isidor , Solène Conrad , Benjamin Cogné , Wallid Deb , K E Stuurman , Katalin Sterbova , Noor Smal , Sarah Weckhuysen , Renske Oegema , Micheil Innes , Maeson Latsko , Tawfeg Ben-Omran , Rebecca Yeh , Michael Kruer , Somayeh Bakhtiari , Antigone Papavasiliou , Sébastien Moutton , Sophie Nambot , Sirisak Chanprasert , Sarah Paolucci , Kait Miller , Barbara Burton , Katherine Kim , Emily O'Heir , Zandre Bruwer , Kirsten Donald , Tjitske Kleefstra , Amy Goldstein , Brad Angle , Kelly Bontempo , Peter Miny , Pascal Joset , Florence Demurger , Emma Hobson , Lewis Pang , Lori Carpenter , Dong Li , Dominique Bonneau , Bekim Sadikovic

Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.

American journal of medical genetics. Part A
Avec: Soha Sewani , Mahshid S Azamian , Bryce A Mendelsohn , Frederic Tran Mau-Them , Manon Réda , Sophie Nambot , Bertrand Isidor , Jasper J van der Smagt , Joseph J Shen , Amelle Shillington , Lori White , Houda Zghal Elloumi , Peter R Baker , Shayna Svihovec , Kathleen Brown , Yvonne Koopman-Keemink , Mariette J V Hoffer , Inge M M Lakeman , Elise Brischoux-Boucher , Maria Kinali , Xiaonan Zhao , Seema R Lalani , Daryl A Scott

Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Víctor Faundes , Stephanie Goh , Rhoda Akilapa , Heidre Bezuidenhout , Hans T Bjornsson , Lisa Bradley , Angela F Brady , Elise Brischoux-Boucher , Han Brunner , Saskia Bulk , Natalie Canham , Declan Cody , Maria Lisa Dentici , Maria Cristina Digilio , Frances Elmslie , Andrew E Fry , Harinder Gill , Jane Hurst , Diana Johnson , Sophie Julia , Katherine Lachlan , Robert Roger Lebel , Melissa Byler , Eric Gershon , Edmond Lemire , Maria Gnazzo , Francesca Romana Lepri , Antonia Marchese , Meriel McEntagart , Julie McGaughran , Seiji Mizuno , Nobuhiko Okamoto , Claudine Rieubland , Jonathan Rodgers , Erina Sasaki , Emmanuel Scalais , Ingrid Scurr , Mohnish Suri , Ineke van der Burgt , Naomichi Matsumoto , Noriko Miyake , Valérie Benoit , Damien Lederer , Siddharth Banka

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 , Valérie Cormier-Daire , Juliette Piard

GREB1L variants in familial and sporadic hereditary urogenital adysplasia and Mayer-Rokitansky-Kuster-Hauser syndrome.

Clinical genetics
Avec: Adeline Jacquinet , Bouchra Boujemla , Corinne Fasquelle , Jerôme Thiry , Claire Josse , Aimé Lumaka , Elise Brischoux-Boucher , Christèle Dubourg , Véronique David , Laurent Pasquier , Anna Lehman , Karine Morcel , Daniel Guerrier , Vincent Bours

Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.

Human molecular genetics
Avec: Robert Pilz , Lukáš Opálka , Adam Majcher , Elisabeth Grimm , Lionel Van Maldergem , Silvia Mihalceanu , Knut Schäkel , Alexander Enk , François Aubin , Anne-Claire Bursztejn , Elise Brischoux-Boucher , Judith Fischer , Roger Sandhoff

Implementation of fetal clinical exome sequencing: Comparing prospective and retrospective cohorts.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Martina Marangoni , Guillaume Smits , Gilles Ceysens , Elena Costa , Robert Coulon , Caroline Daelemans , Caroline De Coninck , Sara Derisbourg , Kalina Gajewska , Giulia Garofalo , Caroline Gounongbe , Meriem Guizani , Anne Holoye , Catherine Houba , Jean Makhoul , Christian Norgaard , Cecile Regnard , Stephanie Romée , Jamil Soto , Aurore Stagel-Trabbia , Michel Van Rysselberge , An Vercoutere , Siham Zaytouni , Sarah Bouri , Nicky D'Haene , Dominique D'Onle , Christian Dugauquier , Marie-Lucie Racu , Laureen Rocq , Valérie Segers , Camille Verocq , Ephraim Freddy Avni , Marie Cassart , Anne Massez , Bettina Blaumeiser , Elise Brischoux-Boucher , Saskia Bulk , Thomy De Ravel , Guillaume Debray , Boyan Dimitrov , Sandra Janssens , Kathelijn Keymolen , Marie Laterre , Kim van Berkel , Lionel Van Maldergem , Isabelle Vandernoot , Catheline Vilain , Catherine Donner , Laura Tecco , Dominique Thomas , Julie Désir , Marc Abramowicz , Isabelle Migeotte

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.

American journal of human genetics
Avec: Dmitrijs Rots , Sanaa Choufani , Victor Faundes , Alexander J M Dingemans , Shelagh Joss , Nicola Foulds , Elizabeth A Jones , Sarah Stewart , Pradeep Vasudevan , Tabib Dabir , Soo-Mi Park , Rosalyn Jewell , Natasha Brown , Lynn Pais , Sébastien Jacquemont , Khadijé Jizi , Conny M A van Ravenswaaij-Arts , Hester Y Kroes , Constance T R M Stumpel , Charlotte W Ockeloen , Illja J Diets , Mathilde Nizon , Marie Vincent , Benjamin Cogné , Thomas Besnard , Marios Kambouris , Emily Anderson , Elaine H Zackai , Carey McDougall , Sarah Donoghue , Anne O'Donnell-Luria , Zaheer Valivullah , Melanie O'Leary , Siddharth Srivastava , Heather Byers , Nancy Leslie , Sarah Mazzola , George E Tiller , Moin Vera , Joseph J Shen , Richard Boles , Vani Jain , Elise Brischoux-Boucher , Esther Kinning , Brittany N Simpson , Jacques C Giltay , Jacqueline Harris , Boris Keren , Anne Guimier , Pierre Marijon , Bert B A de Vries , Constance S Motter , Bryce A Mendelsohn , Samantha Coffino , Erica H Gerkes , Alexandra Afenjar , Paola Visconti , Elena Bacchelli , Elena Maestrini , Andree Delahaye-Duriez , Catherine Gooch , Yvonne Hendriks , Hieab Adams , Christel Thauvin-Robinet , Sarah Josephi-Taylor , Marta Bertoli , Michael J Parker , Julie W Rutten , Oana Caluseriu , Hilary J Vernon , Jonah Kaziyev , Jia Zhu , Jessica Kremen , Zoe Frazier , Hailey Osika , David Breault , Sreelata Nair , Suzanne M E Lewis , Fabiola Ceroni , Marta Viggiano , Annio Posar , Helen Brittain , Traficante Giovanna , Gori Giulia , Lina Quteineh , Russia Ha-Vinh Leuchter , Evelien Zonneveld-Huijssoon , Cecilia Mellado , Isabelle Marey , Alicia Coudert , Mariana Inés Aracena Alvarez , Milou G P Kennis , Arianne Bouman , Maian Roifman , María Inmaculada Amorós Rodríguez , Juan Dario Ortigoza-Escobar , Vivian Vernimmen , Margje Sinnema , Rolph Pfundt , Han G Brunner , Lisenka E L M Vissers , Tjitske Kleefstra , Rosanna Weksberg , Siddharth Banka

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Clinical genetics
Avec: Alexis Billes , Mathilde Pujalte , Guillaume Jedraszak , Daniel Amsallem , Elise Boudry-Labis , Odile Boute , Sonia Bouquillon , Elise Brischoux-Boucher , Patrick Callier , Charles Coutton , Anne-Laude Avice Denizet , Klaus Dieterich , Paul Kuentz , James Lespinasse , Benoît Mazel , Gilles Morin , Florence Amram , Perrine Pennamen , Marlène Rio , Juliette Piard , Audrey Putoux , Mélanie Rama , Virginie Roze-Guillaumey , Caroline Schluth-Bolard , Marianne Till , Chloé Trouvé , Gaëlle Vieville , Caroline Rooryck , Damien Sanlaville , Nicolas Chatron

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Juliette Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti , Romina Romaniello , Melanie Fradin , Yline Capri , Delphine Héron , Marie-Christine Nougues , Caroline Nava , Oana Tarta Arsene , Debbie Shears , John Taylor , Alistair Pagnamenta , Jenny C Taylor , Yoshimi Sogawa , Diana Johnson , Helen Firth , Pradeep Vasudevan , Gabriela Jones , Marie-Ange Nguyen-Morel , Tiffany Busa , Agathe Roubertie , Myrthe van den Born , Elise Brischoux-Boucher , Michel Koenig , Cyril Mignot , Auteur inconnu , Usha Kini , Christophe Philippe

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Juliette Piard , Lara Hawkes , Mathieu Milh , Laurent Villard , Renato Borgatti , Romina Romaniello , Melanie Fradin , Yline Capri , Delphine Héron , Marie-Christine Nougues , Caroline Nava , Oana Tarta Arsene , Debbie Shears , John Taylor , Alistair Pagnamenta , Jenny C Taylor , Yoshimi Sogawa , Diana Johnson , Helen Firth , Pradeep Vasudevan , Gabriela Jones , Marie-Ange Nguyen-Morel , Tiffany Busa , Agathe Roubertie , Myrthe van den Born , Elise Brischoux-Boucher , Michel Koenig , Cyril Mignot , Auteur inconnu , Usha Kini , Christophe Philippe

Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

European journal of human genetics : EJHG
Avec: Bertrand Chesneau , Aurélie Plancke , Guillaume Rolland , Nicolas Chassaing , Christine Coubes , Elise Brischoux-Boucher , Thomas Edouard , Yves Dulac , Marion Aubert-Mucca , Thierry Lavabre-Bertrand , Julie Plaisancié , Philippe Khau Van Kien

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Richard H van Jaarsveld , Jack Reilly , Marie-Claire Cornips , Michael A Hadders , Emanuele Agolini , Priyanka Ahimaz , Kwame Anyane-Yeboa , Severine Audebert Bellanger , Ellen van Binsbergen , Marie-Jose van den Boogaard , Elise Brischoux-Boucher , Raymond C Caylor , Andrea Ciolfi , Ton A J van Essen , Paolo Fontana , Saskia Hopman , Maria Iascone , Margaret M Javier , Erik-Jan Kamsteeg , Jennifer Kerkhof , Jun Kido , Hyung-Goo Kim , Tjitske Kleefstra , Fortunato Lonardo , Abbe Lai , Dorit Lev , Michael A Levy , M E Suzanne Lewis , Angie Lichty , Marcel M A M Mannens , Naomichi Matsumoto , Idit Maya , Haley McConkey , Andre Megarbane , Vincent Michaud , Evelina Miele , Marcello Niceta , Antonio Novelli , Roberta Onesimo , Rolph Pfundt , Bernt Popp , Eloise Prijoles , Raissa Relator , Sylvia Redon , Dmitrijs Rots , Karen Rouault , Ken Saida , Jolanda Schieving , Marco Tartaglia , Romano Tenconi , Kevin Uguen , Nienke Verbeek , Christopher A Walsh , Keren Yosovich , Christopher J Yuskaitis , Giuseppe Zampino , Bekim Sadikovic , Mariëlle Alders , Renske Oegema

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

European journal of human genetics : EJHG
Avec: Camille Engel , Stéphanie Valence , Geoffroy Delplancq , Reza Maroofian , Andrea Accogli , Emanuele Agolini , Fowzan S Alkuraya , Valentina Baglioni , Irene Bagnasco , Mathilde Becmeur-Lefebvre , Enrico Bertini , Ingo Borggraefe , Elise Brischoux-Boucher , Ange-Line Bruel , Alfredo Brusco , Dalal K Bubshait , Christelle Cabrol , Maria Roberta Cilio , Marie-Coralie Cornet , Christine Coubes , Olivier Danhaive , Valérie Delague , Anne-Sophie Denommé-Pichon , Marilena Carmela Di Giacomo , Martine Doco-Fenzy , Hartmut Engels , Kirsten Cremer , Marion Gérard , Joseph G Gleeson , Delphine Heron , Joanna Goffeney , Anne Guimier , Frederike L Harms , Henry Houlden , Michele Iacomino , Rauan Kaiyrzhanov , Benjamin Kamien , Ehsan Ghayoor Karimiani , Dror Kraus , Paul Kuentz , Kerstin Kutsche , Damien Lederer , Lauren Massingham , Cyril Mignot , Déborah Morris-Rosendahl , Lakshmi Nagarajan , Sylvie Odent , Clothilde Ormières , Jennifer Neil Partlow , Laurent Pasquier , Lynette Penney , Christophe Philippe , Gianluca Piccolo , Cathryn Poulton , Audrey Putoux , Marlène Rio , Christelle Rougeot , Vincenzo Salpietro , Ingrid Scheffer , Amy Schneider , Siddharth Srivastava , Rachel Straussberg , Pasquale Striano , Enza Maria Valente , Perrine Venot , Laurent Villard , Antonio Vitobello , Johanna Wagner , Matias Wagner , Maha S Zaki , Federizo Zara , Gaetan Lesca , Vahid Reza Yassaee , Mohammad Miryounesi , Farzad Hashemi-Gorji , Mehran Beiraghi , Farah Ashrafzadeh , Hamid Galehdari , Christopher Walsh , Antonio Novelli , Moritz Tacke , Dinara Sadykova , Yerdan Maidyrov , Kairgali Koneev , Chingiz Shashkin , Valeria Capra , Mina Zamani , Lionel Van Maldergem , Lydie Burglen , Juliette Piard

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 , 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

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.

Molecular psychiatry
Avec: Jérémie Courraud , Camille Engel , Angélique Quartier , Nathalie Drouot , Ursula Houessou , Damien Plassard , Arthur Sorlin , Elise Brischoux-Boucher , Evan Gouy , Lionel Van Maldergem , Massimiliano Rossi , Gaetan Lesca , Patrick Edery , Audrey Putoux , Frederic Bilan , Brigitte Gilbert-Dussardier , Isis Atallah , Vera M Kalscheuer , Jean-Louis Mandel , Amélie Piton

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Juliette Piard 9 collaborations
Bertrand Isidor 8 collaborations
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