Luis Alberto Pérez-Jurado (Luis A Perez-Jurado, Luis A Pérez-Jurado, Luís A Pérez-Jurado, L A Pérez-Jurado)

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 35

Top Venues

European journal of human genetics : EJHG

NPJ genomic medicine

International journal of molecular sciences

Journal of human genetics

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

Publications

Erta Zykaj, Chelsea Abboud, Paria Asadi, Simane Warsame, Hashem Almousa, Miroslav P Milev, Brittany M Greco, Marcos López-Sánchez, Drago Bratkovic, Aashiq H Kachroo, Luis Alberto Pérez-Jurado, Michael Sacher
A Humanized Yeast Model for Studying TRAPP Complex Mutations; Proof-of-Concept Using Variants from an Individual with a TRAPPC1 -Associated Neurodevelopmental Syndrome. Cells 13 (17) (2024)
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals. Journal of human genetics 69 (5) (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)
Luis Alberto Pérez-Jurado, Alejandro Cáceres, Laura Balagué-Dobón, Tonu Esko, Miguel López de Heredia, Inés Quintela, Raquel Cruz, Pablo Lapunzina, Ángel Carracedo, null null, Juan Ramon González
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. Communications biology 7 (1) (2024)
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals. Journal of human genetics 69 (5) (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)
Luis Alberto Pérez-Jurado, Alejandro Cáceres, Laura Balagué-Dobón, Tonu Esko, Miguel López de Heredia, Inés Quintela, Raquel Cruz, Pablo Lapunzina, Ángel Carracedo, null null, Juan Ramon González
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. Communications biology 7 (1) (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)
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals. Journal of human genetics (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)
Luis Alberto Pérez-Jurado, Alejandro Cáceres, Laura Balagué-Dobón, Tonu Esko, Miguel López de Heredia, Inés Quintela, Raquel Cruz, Pablo Lapunzina, Ángel Carracedo, null null, Juan Ramon González
Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2. Communications biology 7 (1) (2024)
Francisco Javier Cotrina-Vinagre, María Elena Rodríguez-García, Lucía Del Pozo-Filíu, Aurelio Hernández-Laín, Ana Arteche-López, Beatriz Morte, Marta Sevilla, Luis Alberto Pérez-Jurado, Pilar Quijada-Fraile, Ana Camacho, Francisco Martínez-Azorín
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals. Journal of human genetics 69 (5) (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)
Noura Abdalla, Paula Ortiz-Romero, Isaac Rodriguez-Rovira, Luis Alberto Pérez-Jurado, Gustavo Egea, Victoria Campuzano
The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams-Beuren Syndrome Mouse Model. International journal of molecular sciences 24 (4) (2023)
Noura Abdalla, Paula Ortiz-Romero, Isaac Rodriguez-Rovira, Luis Alberto Pérez-Jurado, Gustavo Egea, Victoria Campuzano
The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams-Beuren Syndrome Mouse Model. International journal of molecular sciences 24 (4) (2023)
Noura Abdalla, Paula Ortiz-Romero, Isaac Rodriguez-Rovira, Luis Alberto Pérez-Jurado, Gustavo Egea, Victoria Campuzano
The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams-Beuren Syndrome Mouse Model. International journal of molecular sciences 24 (4) (2023)
Noura Abdalla, Paula Ortiz-Romero, Isaac Rodriguez-Rovira, Luis Alberto Pérez-Jurado, Gustavo Egea, Victoria Campuzano
The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams-Beuren Syndrome Mouse Model. International journal of molecular sciences 24 (4) (2023)
Natàlia Carreras-Gallo, Alejandro Cáceres, Laura Balagué-Dobón, Carlos Ruiz-Arenas, Regina Grazuleviciene, Ángel Carracedo, Maribel Casas, Leda Chatzi, Regina Grazuleviciene, Kristine Bjerve Gutzkow, Johanna Lepeule, Lea Maitre, Mark Nieuwenhuijsen, Remy Slama, Nikos Stratakis, Cathrine Thomsen, Jose Urquiza, John Wright, Tiffany Yang, Geòrgia Escaramís, Mariona Bustamante, Martine Vrijheid, Luis Alberto Pérez-Jurado, Juan Ramon González
The early-life exposome modulates the effect of polymorphic inversions on DNA methylation. Communications biology 5 (1) (2022)
Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Victor Martínez-González, Fernando Santos-Simarro, Sixto García-Miñaúr, María Palomares-Bralo, Marta Pacio-Míguez, Beatriz Gómez, Pedro Arias, Alba Alcochea, Juan Carrión, Patricia Arias, Berta Almoguera, Fermina López-Grondona, Isabel Lorda-Sanchez, Enrique Galán-Gómez, Maria Irene Valenzuela Palafoll, María Pilar Méndez Perez, Ivón Cuscó, Francisco Barros, Juan Pié, Sergio Ramos, Feliciano J Ramos, Alma Kuechler, Eduardo Tizzano, Carmen Ayuso, Frank J Kaiser, Luis Alberto Pérez-Jurado, Angel Carracedo, null The ENoD-Ciberer Consortium, null The Side Consortium, Pablo Lapunzina
Schuurs-Hoeijmakers Syndrome (PACS1 Neurodevelopmental Disorder): Seven Novel Patients and a Review. Genes 12 (5) (2021)
Vicente Barrios-Sabador, Julia A Chowen, Álvaro Martín-Rivada, Santiago Guerra-Cantera, Jesús Pozo, Shoshana Yakar, Ron G Rosenfeld, Luis Alberto Pérez-Jurado, Juan Suarez, Jesús Argente
Pregnancy-Associated Plasma Protein (PAPP)-A2 in Physiology and Disease. Cells 10 (12) (2021)
Clare L van Eyk, D L Webber, A E Minoche, Luis Alberto Pérez-Jurado, Mark A Corbett, A E Gardner, Jesia G Berry, K Harper, A H MacLennan, Jozef Gecz
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. NPJ genomic medicine 6 (1) (2021)
Lachlan A Jolly, Euan Parnell, Alison E Gardner, Mark A Corbett, Luis Alberto Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M White, Martin B Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A Wood, Michael Piper, Peter Penzes, Jozef Gecz
Missense variant contribution to USP9X-female syndrome. NPJ genomic medicine 5 (1) (2020)
Marta Codina-Sola, Mar Costa-Roger, Debora Pérez-García, Raquel Flores, Maria Gabriela Palacios-Verdú, Ivon Cusco, Luis Alberto Pérez-Jurado
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome. Journal of medical genetics 56 (12) (2019)
Weiyin Zhou, Mitchell J Machiela, Neal D Freedman, Nathaniel Rothman, Núria Malats, Casey L Dagnall, Neil Caporaso, Lauren T Teras, Mia M Gaudet, Susan M Gapstur, Victoria L Stevens, Kevin B Jacobs, Joshua Sampson, Demetrius Albanes, Stephanie Weinstein, Jarmo Virtamo, Sonja Berndt, Robert N Hoover, Amanda Black, Debra Silverman, Jonine Figueroa, Montserrat Garcia-Closas, Francisco X Real, Julie Earl, Gaelle Marenne, Benjamin Rodriguez-Santiago, Margaret Karagas, Alison Johnson, Molly Schwenn, Xifeng Wu, Jian Gu, Yuanqing Ye, Amy Hutchinson, Margaret Tucker, Luis Alberto Pérez-Jurado, Michael Dean, Meredith Yeager, Stephen J Chanock
Reply to 'Mosaic loss of chromosome Y in leukocytes matters'. Nature genetics 51 (1) (2019)
Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francesc Bou de Pieri, Raquel Flores, Julia A Chowen, Luis Alberto Pérez-Jurado, Jesús Argente
Heterozygous rare genetic variants in non-syndromic early-onset obesity. International journal of obesity (2005) 44 (4) (2019)
Mark A Corbett, Clare L van Eyk, Dani L Webber, Stephen J Bent, Morgan Newman, Kelly Harper, Jesia G Berry, Dimitar N Azmanov, Karen J Woodward, Alison E Gardner, Jennie Slee, Luis Alberto Pérez-Jurado, Alastair H MacLennan, Jozef Gecz
Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. NPJ genomic medicine 4 (2019)
Mark A Corbett, Clare L van Eyk, Dani L Webber, Stephen J Bent, Morgan Newman, Kelly Harper, Jesia G Berry, Dimitar N Azmanov, Karen J Woodward, Alison E Gardner, Jennie Slee, Luis Alberto Pérez-Jurado, Alastair H MacLennan, Jozef Gecz
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. NPJ genomic medicine 3 (2018)
Weiyin Zhou, Mitchell J Machiela, Neal D Freedman, Nathaniel Rothman, Nuria Malats, Casey Dagnall, Neil Caporaso, Lauren T Teras, Mia M Gaudet, Susan M Gapstur, Victoria L Stevens, Kevin B Jacobs, Joshua Sampson, Demetrius Albanes, Stephanie Weinstein, Jarmo Virtamo, Sonja Berndt, Robert N Hoover, Amanda Black, Debra Silverman, Jonine Figueroa, Montserrat Garcia-Closas, Francisco X Real, Julie Earl, Gaelle Marenne, Benjamin Rodriguez-Santiago, Margaret Karagas, Alison Johnson, Molly Schwenn, Xifeng Wu, Jian Gu, Yuanqing Ye, Amy Hutchinson, Margaret Tucker, Luis Alberto Pérez-Jurado, Michael Dean, Meredith Yeager, Stephen J Chanock
Mosaic loss of chromosome Y is associated with common variation near TCL1A. Nature genetics 48 (5) (2016)
Mitchell J Machiela, Weiyin Zhou, Eric Karlins, Joshua N Sampson, Neal D Freedman, Qi Yang, Belynda D Hicks, Casey L Dagnall, Christopher Hautman, Kevin B Jacobs, Christian C Abnet, Melinda C Aldrich, Christopher Amos, Laufey T Amundadottir, Alan A Arslan, Laura E Beane-Freeman, Sonja I Berndt, Amanda Black, William J Blot, Cathryn H Bock, Paige M Bracci, Louise A Brinton, H Bas Bueno-de-Mesquita, Laurie Burdett, Julie E Buring, Mary A Butler, Frederico Canzian, Tania Carreón, Kari G Rabe, I-Shou Chang, Nilanjan Chatterjee, Chu Chen, Constance Chen, Kexin Chen, Charles C Chung, Linda S Cook, Marta Crous Bou, Michael Cullen, Faith G Davis, Immaculata De Vivo, Ti Ding, Jennifer Doherty, Eric J Duell, Caroline G Epstein, Jin-Hu Fan, Jonine D Figueroa, Joseph F Fraumeni, Christine M Friedenreich, Charles S Fuchs, Steven Gallinger, Yu-Tang Gao, Susan M Gapstur, Montserrat Garcia-Closas, Mia M Gaudet, J Michael Gaziano, Graham G Giles, Elizabeth M Gillanders, Edward L Giovannucci, Lynn Goldin, Alisa M Goldstein, Christopher A Haiman, Goran Hallmans, Susan E Hankinson, Curtis C Harris, Roger Henriksson, Elizabeth A Holly, Yun-Chul Hong, Robert N Hoover, Chao A Hsiung, Nan Hu, Wei Hu, David J Hunter, Amy Hutchinson, Mazda Jenab, Christoffer Johansen, Kay-Tee Khaw, Hee Nam Kim, Yeul Hong Kim, Young Tae Kim, Alison P Klein, Robert Klein, Woon-Puay Koh, Laurence N Kolonel, Charles Kooperberg, Peter Kraft, Vittorio Krogh, Robert C Kurtz, Andrea LaCroix, Qing Lan, Maria Teresa Landi, Loic Le Marchand, Donghui Li, Xiaolin Liang, Linda M Liao, Dongxin Lin, Jianjun Liu, Jolanta Lissowska, Lingeng Lu, Anthony M Magliocco, Nuria Malats, Keitaro Matsuo, Lorna H McNeill, Robert R McWilliams, Beatrice S Melin, Lisa Mirabello, Lee Moore, Sara H Olson, Irene Orlow, Jae Yong Park, Ana Patiño-Garcia, Beata Peplonska, Ulrike Peters, Gloria M Petersen, Loreall Pooler, Jennifer Prescott, Ludmila Prokunina-Olsson, Mark P Purdue, You-Lin Qiao, Preetha Rajaraman, Francisco X Real, Elio Riboli, Harvey A Risch, Benjamin Rodriguez-Santiago, Avima M Ruder, Sharon A Savage, Fredrick Schumacher, Ann G Schwartz, Kendra L Schwartz, Adeline Seow, Veronica Wendy Setiawan, Gianluca Severi, Hongbing Shen, Xin Sheng, Min-Ho Shin, Xiao-Ou Shu, Debra T Silverman, Margaret R Spitz, Victoria L Stevens, Rachael Stolzenberg-Solomon, Daniel O Stram, Ze-Zhong Tang, Philip R Taylor, Lauren R Teras, Geoffrey S Tobias, David Van Den Berg, Kala Visvanathan, Sholom Wacholder, Jiu-Cun Wang, Zhaoming Wang, Nicolas Wentzensen, William Wheeler, Emily White, John K Wiencke, Brian M Wolpin, Maria Pik Wong, Chen Wu, Tangchun Wu, Xifeng Wu, Yi-Long Wu, Jay S Wunder, Lucy Xia, Hannah P Yang, Pan-Chyr Yang, Kai Yu, Krista A Zanetti, Anne Zeleniuch-Jacquotte, Wei Zheng, Baosen Zhou, Regina G Ziegler, Luis Alberto Pérez-Jurado, Neil E Caporaso, Nathaniel Rothman, Margaret Tucker, Michael C Dean, Meredith Yeager, Stephen J Chanock
Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome. Nature communications 7 (2016)

Luis Alberto Pérez-Jurado.css-eqlu8i{font-size:small;padding-left:4px;} (Luis A Perez-Jurado, Luis A Pérez-Jurado, Luís A Pérez-Jurado, L A Pérez-Jurado)

Publication Activity (10 Years)

Top Topics

Top Venues

Luis Alberto Pérez-Jurado (Luis A Perez-Jurado, Luis A Pérez-Jurado, Luís A Pérez-Jurado, L A Pérez-Jurado)