Irene Valenzuela Palafoll

Affiliations

Centre de référence Anomalies du développement, CHU Grenoble-Alpes, Grenoble, France.

Publications (3)

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Brain : a journal of neurology

Avec: Phan Q Duy , Bettina Jux , Shujuan Zhao , Kedous Y Mekbib , Evan Dennis , Weilai Dong , Carol Nelson-Williams , Neel H Mehta , John P Shohfi , Jane Juusola , Garrett Allington , Hannah Smith , Sandrine Marlin , Kahina Belhous , Berrin Monteleone , G Bradley Schaefer , Margareta D Pisarska , Jaime Vásquez , Juviannee I Estrada-Veras , Boris Keren , Cyril Mignot , Leigh A Flore , Irene V Palafoll , Seth L Alper , Richard P Lifton , Shozeb Haider , Andres Moreno-De-Luca , Sheng Chih Jin , Waldemar Kolanus , Kristopher T Kahle

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Genome medicine

Avec: Madelyn A Gillentine , Tianyun Wang , Kendra Hoekzema , Jill Rosenfeld , Pengfei Liu , Hui Guo , Chang N Kim , Bert B A De Vries , Lisenka E L M Vissers , Magnus Nordenskjold , Malin Kvarnung , Anna Lindstrand , Ann Nordgren , Jozef Gecz , Maria Iascone , Anna Cereda , Agnese Scatigno , Silvia Maitz , Ginevra Zanni , Enrico Bertini , Christiane Zweier , Sarah Schuhmann , Antje Wiesener , Micah Pepper , Heena Panjwani , Erin Torti , Farida Abid , Irina Anselm , Siddharth Srivastava , Paldeep Atwal , Carlos A Bacino , Gifty Bhat , Katherine Cobian , Lynne M Bird , Jennifer Friedman , Meredith S Wright , Bert Callewaert , Florence Petit , Sophie Mathieu , Alexandra Afenjar , Celenie K Christensen , Kerry M White , Orly Elpeleg , Itai Berger , Edward J Espineli , Christina Fagerberg , Charlotte Brasch-Andersen , Lars Kjærsgaard Hansen , Timothy Feyma , Susan Hughes , Isabelle Thiffault , Bonnie Sullivan , Shuang Yan , Kory Keller , Boris Keren , Cyril Mignot , Frank Kooy , Marije Meuwissen , Alice Basinger , Mary Kukolich , Meredith Philips , Lucia Ortega , Margaret Drummond-Borg , Mathilde Lauridsen , Kristina Sorensen , Anna Lehman , Auteur inconnu , Elena Lopez-Rangel , Paul Levy , Davor Lessel , Timothy Lotze , Suneeta Madan-Khetarpal , Jessica Sebastian , Jodie Vento , Divya Vats , L Manace Benman , Shane Mckee , Ghayda M Mirzaa , Candace Muss , John Pappas , Hilde Peeters , Corrado Romano , Maurizio Elia , Ornella Galesi , Marleen E H Simon , Koen L I van Gassen , Kara Simpson , Robert Stratton , Sabeen Syed , Julien Thevenon , Irene Valenzuela Palafoll , Antonio Vitobello , Marie Bournez , Laurence Faivre , Kun Xia , Auteur inconnu , Rachel K Earl , Tomasz Nowakowski , Raphael A Bernier , Evan E Eichler

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.

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

Avec: Christian Staufner , Bianca Peters , Matias Wagner , Seham Alameer , Ivo Barić , Pierre Broué , Derya Bulut , Joseph A Church , Ellen Crushell , Buket Dalgıç , Anibh M Das , Anke Dick , Nicola Dikow , Carlo Dionisi-Vici , Felix Distelmaier , Neslihan Ekşi Bozbulut , François Feillet , Emmanuel Gonzales , Nedim Hadzic , Fabian Hauck , Robert Hegarty , Maja Hempel , Theresia Herget , Christoph Klein , Vassiliki Konstantopoulou , Robert Kopajtich , Alice Kuster , Martin W Laass , Elke Lainka , Catherine Larson-Nath , Alexander Leibner , Eberhard Lurz , Johannes A Mayr , Patrick McKiernan , Karine Mention , Ute Moog , Neslihan Onenli Mungan , Korbinian M Riedhammer , René Santer , Irene Valenzuela Palafoll , Jerry Vockley , Dominik S Westphal , Arnaud Wiedemann , Saskia B Wortmann , Gaurav D Diwan , Robert B Russell , Holger Prokisch , Sven F Garbade , Stefan Kölker , Georg F Hoffmann , Dominic Lenz

Réseau de co-auteurs

Boris Keren 2 collaborations

Cyril Mignot 2 collaborations

None None 2 collaborations

Phan Q Duy 1 collaboration

Bettina Jux 1 collaboration

Shujuan Zhao 1 collaboration

Kedous Y Mekbib 1 collaboration

Evan Dennis 1 collaboration

Weilai Dong 1 collaboration

Carol Nelson-Williams 1 collaboration

Neel H Mehta 1 collaboration

John P Shohfi 1 collaboration

Jane Juusola 1 collaboration

Garrett Allington 1 collaboration

Hannah Smith 1 collaboration

Sandrine Marlin 1 collaboration

Kahina Belhous 1 collaboration

Berrin Monteleone 1 collaboration

G Bradley Schaefer 1 collaboration

Margareta D Pisarska 1 collaboration

Jaime Vásquez 1 collaboration

Juviannee I Estrada-Veras 1 collaboration

Leigh A Flore 1 collaboration

Irene V Palafoll 1 collaboration

Seth L Alper 1 collaboration

Richard P Lifton 1 collaboration

Shozeb Haider 1 collaboration

Andres Moreno-De-Luca 1 collaboration

Sheng Chih Jin 1 collaboration

Waldemar Kolanus 1 collaboration

Kristopher T Kahle 1 collaboration

Madelyn A Gillentine 1 collaboration

Tianyun Wang 1 collaboration

Kendra Hoekzema 1 collaboration

Jill Rosenfeld 1 collaboration

Pengfei Liu 1 collaboration

Hui Guo 1 collaboration

Chang N Kim 1 collaboration

Bert B A De Vries 1 collaboration

Lisenka E L M Vissers 1 collaboration

Magnus Nordenskjold 1 collaboration

Malin Kvarnung 1 collaboration

Anna Lindstrand 1 collaboration

Ann Nordgren 1 collaboration

Jozef Gecz 1 collaboration

Maria Iascone 1 collaboration

Anna Cereda 1 collaboration

Agnese Scatigno 1 collaboration

Silvia Maitz 1 collaboration

Ginevra Zanni 1 collaboration

Enrico Bertini 1 collaboration

Christiane Zweier 1 collaboration

Sarah Schuhmann 1 collaboration

Antje Wiesener 1 collaboration

Micah Pepper 1 collaboration

Heena Panjwani 1 collaboration

Erin Torti 1 collaboration

Farida Abid 1 collaboration

Irina Anselm 1 collaboration

Siddharth Srivastava 1 collaboration

Paldeep Atwal 1 collaboration

Carlos A Bacino 1 collaboration

Gifty Bhat 1 collaboration

Katherine Cobian 1 collaboration

Lynne M Bird 1 collaboration

Jennifer Friedman 1 collaboration

Meredith S Wright 1 collaboration

Bert Callewaert 1 collaboration

Florence Petit 1 collaboration

Sophie Mathieu 1 collaboration

Alexandra Afenjar 1 collaboration

Celenie K Christensen 1 collaboration

Kerry M White 1 collaboration

Orly Elpeleg 1 collaboration

Itai Berger 1 collaboration

Edward J Espineli 1 collaboration

Christina Fagerberg 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Lars Kjærsgaard Hansen 1 collaboration

Timothy Feyma 1 collaboration

Susan Hughes 1 collaboration

Isabelle Thiffault 1 collaboration

Bonnie Sullivan 1 collaboration

Shuang Yan 1 collaboration

Kory Keller 1 collaboration

Frank Kooy 1 collaboration

Marije Meuwissen 1 collaboration

Alice Basinger 1 collaboration

Mary Kukolich 1 collaboration

Meredith Philips 1 collaboration

Lucia Ortega 1 collaboration

Margaret Drummond-Borg 1 collaboration

Mathilde Lauridsen 1 collaboration

Kristina Sorensen 1 collaboration

Anna Lehman 1 collaboration

Elena Lopez-Rangel 1 collaboration

Paul Levy 1 collaboration

Davor Lessel 1 collaboration

Timothy Lotze 1 collaboration

Suneeta Madan-Khetarpal 1 collaboration

Jessica Sebastian 1 collaboration

Jodie Vento 1 collaboration

Divya Vats 1 collaboration

L Manace Benman 1 collaboration

Shane Mckee 1 collaboration

Ghayda M Mirzaa 1 collaboration

Candace Muss 1 collaboration

John Pappas 1 collaboration

Hilde Peeters 1 collaboration

Corrado Romano 1 collaboration

Maurizio Elia 1 collaboration

Ornella Galesi 1 collaboration

Marleen E H Simon 1 collaboration

Koen L I van Gassen 1 collaboration

Kara Simpson 1 collaboration

Robert Stratton 1 collaboration

Sabeen Syed 1 collaboration

Julien Thevenon 1 collaboration

Antonio Vitobello 1 collaboration

Marie Bournez 1 collaboration

Laurence Faivre 1 collaboration

Kun Xia 1 collaboration

Rachel K Earl 1 collaboration

Tomasz Nowakowski 1 collaboration

Raphael A Bernier 1 collaboration

Evan E Eichler 1 collaboration

Christian Staufner 1 collaboration

Bianca Peters 1 collaboration

Matias Wagner 1 collaboration

Seham Alameer 1 collaboration

Ivo Barić 1 collaboration

Pierre Broué 1 collaboration

Derya Bulut 1 collaboration

Joseph A Church 1 collaboration

Ellen Crushell 1 collaboration

Buket Dalgıç 1 collaboration

Anibh M Das 1 collaboration

Anke Dick 1 collaboration

Nicola Dikow 1 collaboration

Carlo Dionisi-Vici 1 collaboration

Felix Distelmaier 1 collaboration

Neslihan Ekşi Bozbulut 1 collaboration

François Feillet 1 collaboration

Emmanuel Gonzales 1 collaboration

Nedim Hadzic 1 collaboration

Fabian Hauck 1 collaboration

Robert Hegarty 1 collaboration

Maja Hempel 1 collaboration

Theresia Herget 1 collaboration

Christoph Klein 1 collaboration

Vassiliki Konstantopoulou 1 collaboration

Robert Kopajtich 1 collaboration

Alice Kuster 1 collaboration

Martin W Laass 1 collaboration

Elke Lainka 1 collaboration

Catherine Larson-Nath 1 collaboration

Alexander Leibner 1 collaboration

Eberhard Lurz 1 collaboration

Johannes A Mayr 1 collaboration

Patrick McKiernan 1 collaboration

Karine Mention 1 collaboration

Ute Moog 1 collaboration

Neslihan Onenli Mungan 1 collaboration

Korbinian M Riedhammer 1 collaboration

René Santer 1 collaboration

Jerry Vockley 1 collaboration

Dominik S Westphal 1 collaboration

Arnaud Wiedemann 1 collaboration

Saskia B Wortmann 1 collaboration

Gaurav D Diwan 1 collaboration

Robert B Russell 1 collaboration

Holger Prokisch 1 collaboration

Sven F Garbade 1 collaboration

Stefan Kölker 1 collaboration

Georg F Hoffmann 1 collaboration

Dominic Lenz 1 collaboration