Irina Anselm

Affiliations

Department of Neurology Boston Children's Hospital, Harvard Medical School Boston Massachusetts.

Publications (9)

Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.

JIMD reports

Avec: Didem Demirbas , David J Harris , Pamela H Arn , Xiaoping Huang , Susan E Waisbren , Irina Anselm , Jordan P Lerner-Ellis , Lee-Jun Wong , Harvey L Levy , Gerard T Berry

Gene therapy in the putamen for curing AADC deficiency and Parkinson's disease.

EMBO molecular medicine

Avec: Paul Wuh-Liang Hwu , Karl Kiening , Irina Anselm , David R Compton , Takeshi Nakajima , Thomas Opladen , Phillip L Pearl , Agathe Roubertie , Thomas Roujeau , Shin-Ichi Muramatsu

De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.

American journal of human genetics

Avec: Maria J Guillen Sacoto , Iva A Tchasovnikarova , Erin Torti , Cara Forster , E Hallie Andrew , Irina Anselm , Kristin W Baranano , Lauren C Briere , Julie S Cohen , William J Craigen , Cheryl Cytrynbaum , Nina Ekhilevitch , Matthew J Elrick , Ali Fatemi , Jamie L Fraser , Renata C Gallagher , Andrea Guerin , Devon Haynes , Frances A High , Cara N Inglese , Courtney Kiss , Mary Kay Koenig , Joel Krier , Kristin Lindstrom , Michael Marble , Hannah Meddaugh , Ellen S Moran , Chantal F Morel , Weiyi Mu , Eric A Muller , Jessica Nance , Marvin R Natowicz , Adam L Numis , Bridget Ostrem , John Pappas , Carl E Stafstrom , Haley Streff , David A Sweetser , Marta Szybowska , Auteur inconnu , Melissa A Walker , Wei Wang , Karin Weiss , Rosanna Weksberg , Patricia G Wheeler , Grace Yoon , Robert E Kingston , Jane Juusola

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.

Epilepsia

Avec: McKenna Kelly , Meredith Park , Ivana Mihalek , Anne Rochtus , Marie Gramm , Eduardo Pérez-Palma , Erika Takle Axeen , Christina Y Hung , Heather Olson , Lindsay Swanson , Irina Anselm , Lauren C Briere , Frances A High , David A Sweetser , Auteur inconnu , Saima Kayani , Molly Snyder , Sophie Calvert , Ingrid E Scheffer , Edward Yang , Jeff L Waugh , Dennis Lal , Olaf Bodamer , Annapurna Poduri

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

A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome.

Orphanet journal of rare diseases

Avec: Julia Han , Terry Jo Bichell , Stephanie Golden , Irina Anselm , Susan Waisbren , Carlos A Bacino , Sarika U Peters , Lynne M Bird , Virginia Kimonis

Expansion of the clinical and neuroimaging spectrum associated with NDUFS8-related disorder.

JIMD reports

Avec: Milena M Andzelm , Shanti Balasubramaniam , Edward Yang , Alison G Compton , Kate Millington , Jia Zhu , Irina Anselm , Lance H Rodan , David R Thorburn , John Christodoulou , Siddharth Srivastava

Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

American journal of human genetics

Avec: Thi Tuyet Mai Nguyen , Yoshiko Murakami , Sabrina Mobilio , Marcello Niceta , Giuseppe Zampino , Christophe Philippe , Sébastien Moutton , Maha S Zaki , Kiely N James , Damir Musaev , Weiyi Mu , Kristin Baranano , Jessica R Nance , Jill A Rosenfeld , Nancy Braverman , Andrea Ciolfi , Francisca Millan , Richard E Person , Ange-Line Bruel , Christel Thauvin-Robinet , Athina Ververi , Catherine DeVile , Alison Male , Stephanie Efthymiou , Reza Maroofian , Henry Houlden , Shazia Maqbool , Fatima Rahman , Nissan V Baratang , Justine Rousseau , Anik St-Denis , Matthew J Elrick , Irina Anselm , Lance H Rodan , Marco Tartaglia , Joseph Gleeson , Taroh Kinoshita , Philippe M Campeau

Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.

American journal on intellectual and developmental disabilities

Avec: Cristan A Farmer , Aaron J Kaat , Audrey Thurm , Irina Anselm , Natacha Akshoomoff , Amanda Bennett , Leandra Berry , Aleksandra Bruchey , Bruce A Barshop , Elizabeth Berry-Kravis , Simona Bianconi , Kim M Cecil , Robert J Davis , Can Ficicioglu , Forbes D Porter , Allison Wainer , Robin P Goin-Kochel , Caroline Leonczyk , Whitney Guthrie , Dwight Koeberl , Jamie Love-Nichols , Eva Mamak , Saadet Mercimek-Andrews , Rebecca P Thomas , Gail A Spiridigliozzi , Nancy Sullivan , Vernon R Sutton , Manisha D Udhnani , Susan E Waisbren , Judith S Miller

Réseau de co-auteurs

None None 4 collaborations

Susan E Waisbren 2 collaborations

Erin Torti 2 collaborations

Lauren C Briere 2 collaborations

Matthew J Elrick 2 collaborations

Frances A High 2 collaborations

Weiyi Mu 2 collaborations

John Pappas 2 collaborations

David A Sweetser 2 collaborations

Edward Yang 2 collaborations

Siddharth Srivastava 2 collaborations

Carlos A Bacino 2 collaborations

Lynne M Bird 2 collaborations

Lance H Rodan 2 collaborations

Didem Demirbas 1 collaboration

David J Harris 1 collaboration

Pamela H Arn 1 collaboration

Xiaoping Huang 1 collaboration

Jordan P Lerner-Ellis 1 collaboration

Lee-Jun Wong 1 collaboration

Harvey L Levy 1 collaboration

Gerard T Berry 1 collaboration

Paul Wuh-Liang Hwu 1 collaboration

Karl Kiening 1 collaboration

David R Compton 1 collaboration

Takeshi Nakajima 1 collaboration

Thomas Opladen 1 collaboration

Phillip L Pearl 1 collaboration

Agathe Roubertie 1 collaboration

Thomas Roujeau 1 collaboration

Shin-Ichi Muramatsu 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Iva A Tchasovnikarova 1 collaboration

Cara Forster 1 collaboration

E Hallie Andrew 1 collaboration

Kristin W Baranano 1 collaboration

Julie S Cohen 1 collaboration

William J Craigen 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Nina Ekhilevitch 1 collaboration

Ali Fatemi 1 collaboration

Jamie L Fraser 1 collaboration

Renata C Gallagher 1 collaboration

Andrea Guerin 1 collaboration

Devon Haynes 1 collaboration

Cara N Inglese 1 collaboration

Courtney Kiss 1 collaboration

Mary Kay Koenig 1 collaboration

Joel Krier 1 collaboration

Kristin Lindstrom 1 collaboration

Michael Marble 1 collaboration

Hannah Meddaugh 1 collaboration

Ellen S Moran 1 collaboration

Chantal F Morel 1 collaboration

Eric A Muller 1 collaboration

Jessica Nance 1 collaboration

Marvin R Natowicz 1 collaboration

Adam L Numis 1 collaboration

Bridget Ostrem 1 collaboration

Carl E Stafstrom 1 collaboration

Haley Streff 1 collaboration

Marta Szybowska 1 collaboration

Melissa A Walker 1 collaboration

Wei Wang 1 collaboration

Karin Weiss 1 collaboration

Rosanna Weksberg 1 collaboration

Patricia G Wheeler 1 collaboration

Grace Yoon 1 collaboration

Robert E Kingston 1 collaboration

Jane Juusola 1 collaboration

McKenna Kelly 1 collaboration

Meredith Park 1 collaboration

Ivana Mihalek 1 collaboration

Anne Rochtus 1 collaboration

Marie Gramm 1 collaboration

Eduardo Pérez-Palma 1 collaboration

Erika Takle Axeen 1 collaboration

Christina Y Hung 1 collaboration

Heather Olson 1 collaboration

Lindsay Swanson 1 collaboration

Saima Kayani 1 collaboration

Molly Snyder 1 collaboration

Sophie Calvert 1 collaboration

Ingrid E Scheffer 1 collaboration

Jeff L Waugh 1 collaboration

Dennis Lal 1 collaboration

Olaf Bodamer 1 collaboration

Annapurna Poduri 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

Farida Abid 1 collaboration

Paldeep Atwal 1 collaboration

Gifty Bhat 1 collaboration

Katherine Cobian 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

Boris Keren 1 collaboration

Cyril Mignot 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

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

Irene Valenzuela Palafoll 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

Julia Han 1 collaboration

Terry Jo Bichell 1 collaboration

Stephanie Golden 1 collaboration

Susan Waisbren 1 collaboration

Sarika U Peters 1 collaboration

Virginia Kimonis 1 collaboration

Milena M Andzelm 1 collaboration

Shanti Balasubramaniam 1 collaboration

Alison G Compton 1 collaboration

Kate Millington 1 collaboration

Jia Zhu 1 collaboration

David R Thorburn 1 collaboration

John Christodoulou 1 collaboration

Thi Tuyet Mai Nguyen 1 collaboration

Yoshiko Murakami 1 collaboration

Sabrina Mobilio 1 collaboration

Marcello Niceta 1 collaboration

Giuseppe Zampino 1 collaboration

Christophe Philippe 1 collaboration

Sébastien Moutton 1 collaboration

Maha S Zaki 1 collaboration

Kiely N James 1 collaboration

Damir Musaev 1 collaboration

Kristin Baranano 1 collaboration

Jessica R Nance 1 collaboration

Jill A Rosenfeld 1 collaboration

Nancy Braverman 1 collaboration

Andrea Ciolfi 1 collaboration

Francisca Millan 1 collaboration

Richard E Person 1 collaboration

Ange-Line Bruel 1 collaboration

Christel Thauvin-Robinet 1 collaboration

Athina Ververi 1 collaboration

Catherine DeVile 1 collaboration

Alison Male 1 collaboration

Stephanie Efthymiou 1 collaboration

Reza Maroofian 1 collaboration

Henry Houlden 1 collaboration

Shazia Maqbool 1 collaboration

Fatima Rahman 1 collaboration

Nissan V Baratang 1 collaboration

Justine Rousseau 1 collaboration

Anik St-Denis 1 collaboration

Marco Tartaglia 1 collaboration

Joseph Gleeson 1 collaboration

Taroh Kinoshita 1 collaboration

Philippe M Campeau 1 collaboration

Cristan A Farmer 1 collaboration

Aaron J Kaat 1 collaboration

Audrey Thurm 1 collaboration

Natacha Akshoomoff 1 collaboration

Amanda Bennett 1 collaboration

Leandra Berry 1 collaboration

Aleksandra Bruchey 1 collaboration

Bruce A Barshop 1 collaboration

Elizabeth Berry-Kravis 1 collaboration

Simona Bianconi 1 collaboration

Kim M Cecil 1 collaboration

Robert J Davis 1 collaboration

Can Ficicioglu 1 collaboration

Forbes D Porter 1 collaboration

Allison Wainer 1 collaboration

Robin P Goin-Kochel 1 collaboration

Caroline Leonczyk 1 collaboration

Whitney Guthrie 1 collaboration

Dwight Koeberl 1 collaboration

Jamie Love-Nichols 1 collaboration

Eva Mamak 1 collaboration

Saadet Mercimek-Andrews 1 collaboration

Rebecca P Thomas 1 collaboration

Gail A Spiridigliozzi 1 collaboration

Nancy Sullivan 1 collaboration

Vernon R Sutton 1 collaboration

Manisha D Udhnani 1 collaboration

Judith S Miller 1 collaboration