Judith Armstrong (Judith Armstrong-Moron, J Armstrong)

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 31

Top Topics

Endoplasmic Reticulum

Autism Spectrum Disorder

Top Venues

International journal of molecular sciences

The European journal of neuroscience

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Rober Kopajtich, Holger Prokisch, Judith Armstrong
Multi-omics in MECP2 duplication syndrome patients and carriers. The European journal of neuroscience (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Rober Kopajtich, Holger Prokisch, Judith Armstrong
Multi-omics in MECP2 duplication syndrome patients and carriers. The European journal of neuroscience 60 (2) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics 143 (3) (2024)
Ainhoa Pascual-Alonso, Clara Xiol, Dmitrii Smirnov, Rober Kopajtich, Holger Prokisch, Judith Armstrong
Multi-omics in MECP2 duplication syndrome patients and carriers. The European journal of neuroscience 60 (2) (2024)
Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa A Osei-Owusu, Michael J Bamshad, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio Federico Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, null null, Seema Lalani, Jill Anne Rosenfeld, Lindsay C Burrage
Heterozygous MAP3K20 variants cause ectodermal dysplasia, craniosynostosis, sensorineural hearing loss, and limb anomalies. Human genetics (2024)
Paolo Petazzi, Olga Caridad Jorge-Torres, Antonio Gomez, Iolanda Scognamiglio, Jordi Serra-Musach, Angelika Merkel, Daniela Grases, Clara Xiol, M D M O'Callahan, Judith Armstrong, Manel Esteller, Sonia Guil
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects. International journal of molecular sciences 24 (2) (2023)
Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1. International journal of molecular sciences 24 (2) (2023)
Paolo Petazzi, Olga Caridad Jorge-Torres, Antonio Gomez, Iolanda Scognamiglio, Jordi Serra-Musach, Angelika Merkel, Daniela Grases, Clara Xiol, M D M O'Callahan, Judith Armstrong, Manel Esteller, Sonia Guil
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects. International journal of molecular sciences 24 (2) (2023)
Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1. International journal of molecular sciences 24 (2) (2023)
Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1. International journal of molecular sciences 24 (2) (2023)
Paolo Petazzi, Olga Caridad Jorge-Torres, Antonio Gomez, Iolanda Scognamiglio, Jordi Serra-Musach, Angelika Merkel, Daniela Grases, Clara Xiol, M D M O'Callahan, Judith Armstrong, Manel Esteller, Sonia Guil
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects. International journal of molecular sciences 24 (2) (2023)
Dolores Piniella, Ania Canseco, Silvia Vidal, Clara Xiol, Aránzazu Díaz de Bustamante, Itxaso Martí-Carrera, Judith Armstrong, Ugo Bastolla, Francisco Zafra
Experimental and Bioinformatic Insights into the Effects of Epileptogenic Variants on the Function and Trafficking of the GABA Transporter GAT-1. International journal of molecular sciences 24 (2) (2023)
Paolo Petazzi, Olga Caridad Jorge-Torres, Antonio Gomez, Iolanda Scognamiglio, Jordi Serra-Musach, Angelika Merkel, Daniela Grases, Clara Xiol, M D M O'Callahan, Judith Armstrong, Manel Esteller, Sonia Guil
Global Impairment of Immediate-Early Genes Expression in Rett Syndrome Models and Patients Linked to Myelination Defects. International journal of molecular sciences 24 (2) (2023)
Guerau Fernandez, Dèlia Yubero, Francesc Palau, Judith Armstrong
Molecular Modelling Hurdle in the Next-Generation Sequencing Era. International journal of molecular sciences 23 (13) (2022)
Diego Lopergolo, Flavia Privitera, Giuseppe Castello, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Anna Maria Pinto, Francesca Ariani, Aurora Currò, Vittoria Lamacchia, Roberto Canitano, Elisabetta Vaghi, Alessandra Ferrarini, Gerardo Mejia Baltodano, Damien Lederer, Lionel Van Maldergem, Mercedes Serrano, Mercè Pineda, Maria Del Carmen Fons-Estupina, Hilde Van Esch, Jeroen Breckpot, Candy Kumps, Bert Callewaert, Sabrina Mueller, Gian Paolo Ramelli, Judith Armstrong, Alessandra Renieri, Francesca Mari
IQSEC2 disorder: A new disease entity or a Rett spectrum continuum? Clinical genetics 99 (3) (2021)
Alba-Aina Castells, Rafel Balada, Alba Tristán-Noguero, M D M O'Callahan, Elisenda Cortès-Saladelafont, Ainhoa Pascual-Alonso, Àngels Garcia-Cazorla, Judith Armstrong, Soledad Alcántara
Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy. Biomedicines 9 (2) (2021)
Carolina Migliorelli, I Medina-Rivera, Alejandro Bachiller, Ana Tost, Joan Francesc Alonso, Anna López-Sala, Judith Armstrong, M D M O'Callahan, Mercedes Pineda, Miguel Angel Mañanas, Sergio Romero, Ángeles García-Cazorla
Cognitive stimulation has potential for brain activation in individuals with Rett syndrome. Journal of intellectual disability research : JIDR (2021)
Sofía Barbosa-Gouveia, Maria Eugenia Vázquez-Mosquera, Emiliano Gonzalez-Vioque, Álvaro Hermida-Ameijeiras, Laura L Valverde, Judith Armstrong, Maria Del Carmen Fons-Estupiña, Liesbeth T M Wintjes, Antonia Kappen, Richard J T Rodenburg, Maria-Luz Couce
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome. International journal of molecular sciences 22 (24) (2021)
Dèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, Judith Armstrong, Loreto Martorell, Guerau Fernàndez, Joan Maynou, Cristina Jou, Mònica Roldan, Carlos Ortez, Andrés Nascimento, Janet Hoenicka, Francesc Palau
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases. International journal of molecular sciences 22 (8) (2021)
Ainhoa Pascual-Alonso, Laura Blasco, Silvia Vidal, Esther Gean, Patricia Rubio, Mar O'Callaghan, Antonio Federico Martínez-Monseny, Alba Aina Castells, Clara Xiol, Vicenç Català, Nuria Brandi, Paola Pacheco, Carlota Ros, Miguel Del Campo, Encarna Guillén, Salva Ibañez, María J Sánchez, Pablo Lapunzina, Julián Nevado, Fernando Santos, Elisabet Lloveras, Juan D Ortigoza-Escobar, María-Isabel Tejada, Hiart Maortua, Francisco Martínez, Carmen Orellana, Mónica Roselló, María A Mesas, María Obón, Alberto Plaja, Joaquín A Fernández-Ramos, Eduardo F Tizzano, Rosario Marín, José L Peña-Segura, Soledad Alcántara, Judith Armstrong
Molecular characterization of Spanish patients with MECP2 duplication syndrome. Clinical genetics 97 (4) (2020)
Silvia Vidal, Clara Xiol, Ainhoa Pascual-Alonso, M O'Callaghan, Mercè Pineda, Judith Armstrong
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges. International journal of molecular sciences 20 (16) (2019)
Silvia Vidal, Ainhoa Pascual-Alonso, Marc Rabaza-Gairí, Edgar Gerotina, Nuria Brandi, Paola Pacheco, Clara Xiol, Mercè Pineda, null null, Judith Armstrong
Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis. Molecular genetics & genomic medicine 7 (8) (2019)
Virginia Pérez-Grijalba, Alberto García-Oguiza, María López, Judith Armstrong, Sixto García-Miñaur, Jose María Mesa-Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos-Arroyo, Fernando Santos-Simarro, Verónica Seidel, Elena Dominguez Garrido
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients. Molecular genetics & genomic medicine 7 (11) (2019)
David Soto, Mireia Olivella, Cristina Grau, Judith Armstrong, Clara Alcon, Xavier Gasull, Ana Santos-Gómez, Sílvia Locubiche, Macarena Gómez de Salazar, Roberto García-Díaz, Esther Gratacòs-Batlle, David Ramos-Vicente, Emeline Chu-Van, Benoit Colsch, Víctor Fernández-Dueñas, Francisco Ciruela, Àlex Bayés, Carlos Sindreu, Anna López-Sala, Ángeles García-Cazorla, Xavier Altafaj
L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy. Science signaling 12 (586) (2019)