Bruel Ange-Line

Affiliations

UMR 1231 INSERM, GAD, Université Bourgogne Franche-Comté, Dijon, France.
Unité Fonctionnelle d'Innovation en Diagnostique Génomique des Maladies Rares, FHU-TRANSLAD, Centre Hospitalier Universitaire Estaing (CHU), Dijon Bourgogne, Dijon, France.

Publications (2)

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy.

The Journal of clinical investigation

Avec: Najim Lahrouchi , Alex V Postma , Christian M Salazar , Daniel M De Laughter , Fleur Tjong , Lenka Piherová , Forrest Z Bowling , Dominic Zimmerman , Elisabeth M Lodder , Asaf Ta-Shma , Zeev Perles , Leander Beekman , Aho Ilgun , Quinn Gunst , Mariam Hababa , Doris Škorić-Milosavljević , Viktor Stránecký , Viktor Tomek , Peter de Knijff , Rick de Leeuw , Jamille Y Robinson , Sabrina C Burn , Hiba Mustafa , Matthew Ambrose , Timothy Moss , Jennifer Jacober , Dmitriy M Niyazov , Barry Wolf , Katherine H Kim , Sara Cherny , Andreas Rousounides , Aphrodite Aristidou-Kallika , George Tanteles , Bruel Ange-Line , Anne-Sophie Denommé-Pichon , Christine Francannet , Damara Ortiz , Monique C Haak , Arend D.J. Ten Harkel , Gwendolyn Tr Manten , Annemiek C Dutman , Katelijne Bouman , Monia Magliozzi , Francesca Clementina Radio , Gijs We Santen , Johanna C Herkert , H Alex Brown , Orly Elpeleg , Maurice Jb van den Hoff , Barbara Mulder , Michael V Airola , Stanislav Kmoch , Joey V Barnett , Sally-Ann Clur , Michael A Frohman , Connie R Bezzina

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

The Journal of clinical investigation

Avec: Dong Li , Qin Wang , Allan Bayat , Mark R Battig , Yijing Zhou , Daniëlle Gm Bosch , Gijs van Haaften , Leslie Granger , Andrea K Petersen , Luis A Pérez-Jurado , Gemma Aznar-Laín , Anushree Aneja , Miroslava Hancarova , Sarka Bendova , Martin Schwarz , Radka Kremlíková Pourová , Zdenek Sedlacek , Beth A Keena , Michael E March , Cuiping Hou , Nora O'Connor , Elizabeth J Bhoj , Margaret H Harr , Gabrielle Lemire , Kym M Boycott , Meghan C Towne , Megan Li , Mark Tarnopolsky , Lauren Brady , Michael J Parker , Hanna Faghfoury , Lea Kristin Parsley , Emanuele Agolini , Maria Lisa Dentici , Antonio Novelli , Meredith S Wright , Rachel Palmquist , Khanh Lai , Marcello Scala , Pasquale Striano , Michele Iacomino , Federico Zara , Annina Cooper , Timothy J Maarup , Melissa Byler , Robert Roger Lebel , Tugce B Balci , Raymond J Louie , Michael J Lyons , Jessica Douglas , Catherine B Nowak , Alexandra Afenjar , Juliane Hoyer , Boris Keren , Saskia M Maas , Mahdi M Motazacker , Julian A Martinez-Agosto , Ahna M Rabani , Elizabeth M McCormick , Marni Falk , Sarah M Ruggiero , Ingo Helbig , Rikke S Møller , Lino Tessarollo , Francesco Tomassoni-Ardori , Mary Ellen Palko , Tzung-Chien Hsieh , Peter M Krawitz , Mythily Ganapathi , Bruce D Gelb , Vaidehi Jobanputra , Ashley Wilson , John Greally , Sébastien Jacquemont , Khadijé Jizi , Bruel Ange-Line , Chloé Quelin , Vinod K Misra , Erika Chick , Corrado Romano , Donatella Greco , Alessia Arena , Manuela Morleo , Vincenzo Nigro , Rie Seyama , Yuri Uchiyama , Naomichi Matsumoto , Ryoji Taira , Katsuya Tashiro , Yasunari Sakai , Gökhan Yigit , Bernd Wollnik , Michael Wagner , Barbara Kutsche , Anna Ce Hurst , Michelle L Thompson , Ryan J Schmidt , Linda M Randolph , Rebecca C Spillmann , Vandana Shashi , Edward J Higginbotham , Dawn Cordeiro , Amanda Carnevale , Gregory Costain , Tayyaba Khan , Benoît Funalot , Frederic Tran Mau-Them , Luis Fernandez Garcia Moya , Sixto García-Miñaúr , Matthew Osmond , Lauren Chad , Nada Quercia , Diana Carrasco , Chumei Li , Amarilis Sanchez-Valle , Meghan Kelley , Mathilde Nizon , Brynjar O Jensson , Patrick Sulem , Kari Stefansson , Svetlana Gorokhova , Tiffany Busa , Marlène Rio , Hamza Hadj Abdallah , Marion Lesieur-Sebellin , Jeanne Amiel , Véronique Pingault , Sandra Mercier , Marie Vincent , Christophe Philippe , Clemence Fatus-Fauconnier , Kathryn Friend , Rebecca K Halligan , Sunita Biswas , Jane Mr Rosser , Cheryl Shoubridge , Mark A Corbett , Christopher Barnett , Jozef Gecz , Kathleen A Leppig , Anne Slavotinek , Carlo Marcelis , Rolph Pfundt , Bert Ba de Vries , Marjon A van Slegtenhorst , Alice S Brooks , Benjamin Cogne , Thomas Rambaud , Zeynep Tümer , Elaine H Zackai , Naiara Akizu , Yuanquan Song , Hakon Hakonarson

Réseau de co-auteurs

Najim Lahrouchi 1 collaboration

Alex V Postma 1 collaboration

Christian M Salazar 1 collaboration

Daniel M De Laughter 1 collaboration

Fleur Tjong 1 collaboration

Lenka Piherová 1 collaboration

Forrest Z Bowling 1 collaboration

Dominic Zimmerman 1 collaboration

Elisabeth M Lodder 1 collaboration

Asaf Ta-Shma 1 collaboration

Zeev Perles 1 collaboration

Leander Beekman 1 collaboration

Aho Ilgun 1 collaboration

Quinn Gunst 1 collaboration

Mariam Hababa 1 collaboration

Doris Škorić-Milosavljević 1 collaboration

Viktor Stránecký 1 collaboration

Viktor Tomek 1 collaboration

Peter de Knijff 1 collaboration

Rick de Leeuw 1 collaboration

Jamille Y Robinson 1 collaboration

Sabrina C Burn 1 collaboration

Hiba Mustafa 1 collaboration

Matthew Ambrose 1 collaboration

Timothy Moss 1 collaboration

Jennifer Jacober 1 collaboration

Dmitriy M Niyazov 1 collaboration

Barry Wolf 1 collaboration

Katherine H Kim 1 collaboration

Sara Cherny 1 collaboration

Andreas Rousounides 1 collaboration

Aphrodite Aristidou-Kallika 1 collaboration

George Tanteles 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Christine Francannet 1 collaboration

Damara Ortiz 1 collaboration

Monique C Haak 1 collaboration

Arend D.J. Ten Harkel 1 collaboration

Gwendolyn Tr Manten 1 collaboration

Annemiek C Dutman 1 collaboration

Katelijne Bouman 1 collaboration

Monia Magliozzi 1 collaboration

Francesca Clementina Radio 1 collaboration

Gijs We Santen 1 collaboration

Johanna C Herkert 1 collaboration

H Alex Brown 1 collaboration

Orly Elpeleg 1 collaboration

Maurice Jb van den Hoff 1 collaboration

Barbara Mulder 1 collaboration

Michael V Airola 1 collaboration

Stanislav Kmoch 1 collaboration

Joey V Barnett 1 collaboration

Sally-Ann Clur 1 collaboration

Michael A Frohman 1 collaboration

Connie R Bezzina 1 collaboration

Dong Li 1 collaboration

Qin Wang 1 collaboration

Allan Bayat 1 collaboration

Mark R Battig 1 collaboration

Yijing Zhou 1 collaboration

Daniëlle Gm Bosch 1 collaboration

Gijs van Haaften 1 collaboration

Leslie Granger 1 collaboration

Andrea K Petersen 1 collaboration

Luis A Pérez-Jurado 1 collaboration

Gemma Aznar-Laín 1 collaboration

Anushree Aneja 1 collaboration

Miroslava Hancarova 1 collaboration

Sarka Bendova 1 collaboration

Martin Schwarz 1 collaboration

Radka Kremlíková Pourová 1 collaboration

Zdenek Sedlacek 1 collaboration

Beth A Keena 1 collaboration

Michael E March 1 collaboration

Cuiping Hou 1 collaboration

Nora O'Connor 1 collaboration

Elizabeth J Bhoj 1 collaboration

Margaret H Harr 1 collaboration

Gabrielle Lemire 1 collaboration

Kym M Boycott 1 collaboration

Meghan C Towne 1 collaboration

Megan Li 1 collaboration

Mark Tarnopolsky 1 collaboration

Lauren Brady 1 collaboration

Michael J Parker 1 collaboration

Hanna Faghfoury 1 collaboration

Lea Kristin Parsley 1 collaboration

Emanuele Agolini 1 collaboration

Maria Lisa Dentici 1 collaboration

Antonio Novelli 1 collaboration

Meredith S Wright 1 collaboration

Rachel Palmquist 1 collaboration

Khanh Lai 1 collaboration

Marcello Scala 1 collaboration

Pasquale Striano 1 collaboration

Michele Iacomino 1 collaboration

Federico Zara 1 collaboration

Annina Cooper 1 collaboration

Timothy J Maarup 1 collaboration

Melissa Byler 1 collaboration

Robert Roger Lebel 1 collaboration

Tugce B Balci 1 collaboration

Raymond J Louie 1 collaboration

Michael J Lyons 1 collaboration

Jessica Douglas 1 collaboration

Catherine B Nowak 1 collaboration

Alexandra Afenjar 1 collaboration

Juliane Hoyer 1 collaboration

Boris Keren 1 collaboration

Saskia M Maas 1 collaboration

Mahdi M Motazacker 1 collaboration

Julian A Martinez-Agosto 1 collaboration

Ahna M Rabani 1 collaboration

Elizabeth M McCormick 1 collaboration

Marni Falk 1 collaboration

Sarah M Ruggiero 1 collaboration

Ingo Helbig 1 collaboration

Rikke S Møller 1 collaboration

Lino Tessarollo 1 collaboration

Francesco Tomassoni-Ardori 1 collaboration

Mary Ellen Palko 1 collaboration

Tzung-Chien Hsieh 1 collaboration

Peter M Krawitz 1 collaboration

Mythily Ganapathi 1 collaboration

Bruce D Gelb 1 collaboration

Vaidehi Jobanputra 1 collaboration

Ashley Wilson 1 collaboration

John Greally 1 collaboration

Sébastien Jacquemont 1 collaboration

Khadijé Jizi 1 collaboration

Chloé Quelin 1 collaboration

Vinod K Misra 1 collaboration

Erika Chick 1 collaboration

Corrado Romano 1 collaboration

Donatella Greco 1 collaboration

Alessia Arena 1 collaboration

Manuela Morleo 1 collaboration

Vincenzo Nigro 1 collaboration

Rie Seyama 1 collaboration

Yuri Uchiyama 1 collaboration

Naomichi Matsumoto 1 collaboration

Ryoji Taira 1 collaboration

Katsuya Tashiro 1 collaboration

Yasunari Sakai 1 collaboration

Gökhan Yigit 1 collaboration

Bernd Wollnik 1 collaboration

Michael Wagner 1 collaboration

Barbara Kutsche 1 collaboration

Anna Ce Hurst 1 collaboration

Michelle L Thompson 1 collaboration

Ryan J Schmidt 1 collaboration

Linda M Randolph 1 collaboration

Rebecca C Spillmann 1 collaboration

Vandana Shashi 1 collaboration

Edward J Higginbotham 1 collaboration

Dawn Cordeiro 1 collaboration

Amanda Carnevale 1 collaboration

Gregory Costain 1 collaboration

Tayyaba Khan 1 collaboration

Benoît Funalot 1 collaboration

Frederic Tran Mau-Them 1 collaboration

Luis Fernandez Garcia Moya 1 collaboration

Sixto García-Miñaúr 1 collaboration

Matthew Osmond 1 collaboration

Lauren Chad 1 collaboration

Nada Quercia 1 collaboration

Diana Carrasco 1 collaboration

Chumei Li 1 collaboration

Amarilis Sanchez-Valle 1 collaboration

Meghan Kelley 1 collaboration

Mathilde Nizon 1 collaboration

Brynjar O Jensson 1 collaboration

Patrick Sulem 1 collaboration

Kari Stefansson 1 collaboration

Svetlana Gorokhova 1 collaboration

Tiffany Busa 1 collaboration

Marlène Rio 1 collaboration

Hamza Hadj Abdallah 1 collaboration

Marion Lesieur-Sebellin 1 collaboration

Jeanne Amiel 1 collaboration

Véronique Pingault 1 collaboration

Sandra Mercier 1 collaboration

Marie Vincent 1 collaboration

Christophe Philippe 1 collaboration

Clemence Fatus-Fauconnier 1 collaboration

Kathryn Friend 1 collaboration

Rebecca K Halligan 1 collaboration

Sunita Biswas 1 collaboration

Jane Mr Rosser 1 collaboration

Cheryl Shoubridge 1 collaboration

Mark A Corbett 1 collaboration

Christopher Barnett 1 collaboration

Jozef Gecz 1 collaboration

Kathleen A Leppig 1 collaboration

Anne Slavotinek 1 collaboration

Carlo Marcelis 1 collaboration

Rolph Pfundt 1 collaboration

Bert Ba de Vries 1 collaboration

Marjon A van Slegtenhorst 1 collaboration

Alice S Brooks 1 collaboration

Benjamin Cogne 1 collaboration

Thomas Rambaud 1 collaboration

Zeynep Tümer 1 collaboration

Elaine H Zackai 1 collaboration

Naiara Akizu 1 collaboration

Yuanquan Song 1 collaboration

Hakon Hakonarson 1 collaboration