Gemma Aznar (Gemma Aznar Lain, Gemma Aznar-Laín)

Publication Activity (10 Years)

Years Active: 2022-2024
Publications (10 Years): 14

Top Topics

Intellectual Disability

Congenital Heart Disease

Dna Methylation

Top Venues

European journal of human genetics : EJHG

Journal of binocular vision and ocular motility

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

Publications

Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Eulàlia Turón-Viñas, Susana Boronat, Ignasi Gich, Verónica González Álvarez, Montserrat García-Puig, Maria Camós Carreras, Agustín Rodriguez-Palmero, Ana Felipe-Rucián, Gemma Aznar, Francesc Xavier Jiménez-Fàbrega, Natalia Perez de la Ossa, null null
Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE. Stroke 55 (9) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Eulàlia Turón-Viñas, Susana Boronat, Ignasi Gich, Verónica González Álvarez, Montserrat García-Puig, Maria Camós Carreras, Agustín Rodriguez-Palmero, Ana Felipe-Rucián, Gemma Aznar, Francesc Xavier Jiménez-Fàbrega, Natalia Perez de la Ossa, null null
Design and Interrater Reliability of the Pediatric Version of the Race Scale: PedRACE. Stroke (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots, Alexander J M Dingemans, Nael Nadif Kasri, Susana Boronat, Salvador Ibáñez-Mico, Laura Cuesta Herraiz, Irene Ferrer, Antonio Martínez Carrascal, Luis Alberto Pérez-Jurado, Gemma Aznar, Juan Dario Ortigoza-Escobar, Bert B A de Vries, David A Koolen, Rosanna Weksberg
A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells. European journal of human genetics : EJHG 32 (3) (2024)
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
Ophthalmological Manifestations of Hereditary Myopathies. Journal of binocular vision and ocular motility 72 (1) (2022)