Juan Pié - Publications, H-index & Citations

Juan Pié

University of Zaragoza

29H指数

116论文数

3.1K被引数

收录论文 37

发表时间

Is the Loss of Previously Acquired Skills a Feature of PACS1-, PACS2- and WDR37-Related Syndromes? A Systematized Narrative Review 先前习得技能的丧失是PACS1-、PACS2-和WDR37相关综合征的特征吗？一项系统化叙事综述

International Journal of Molecular Sciences

IF4.9

2026-09-16

OAAI

Julia del Rincón; Ana Latorre-Pellicer; Beatriz Puisac; Cristina Lucia-Campos; Marta Gil-Salvador; Laura Acero; Laura Trujillano; Pilar Pamplona; Ariadna Ayerza-Casas; Feliciano J. Ramos; Juan Pié; María Arnedo

Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype cohesin加载器亚基MAU2的致病性变异是独特的Cornelia de Lange综合征亚型的基础

Nature Communications

IF15.7

2026-03-30

OAAI

Ilaria Parenti; Alina Hesters; Marta Gil-Salvador; Laura Duffy; Deniz Kanber; Jasmin Beygo; Jennifer Kerkhof; Laura Steenpaß; Elsa Leitão; Julia Woestefeld; Philip M. Boone; Emeline M. Kao; Lama Alabdi; Hesham M. Aldhalaan; Fowzan S. Alkuraya; Muneera J. Alshammari; Stylianos E. Antonarakis; Donald Basel; Kevin Cassinari; Laurana de Polli Cellin; Amanda R. Clause; Alexander Augusto de Lima Jorge; Andréa de Castro Leal; Stephan C. Collins; Benjamin Durand; Juliane Eckhold; Mais O. Hashem; Parul Jayakar; Arif O. Khan; Kohji Kato; Regina Kubica; Gholson J. Lyon; Elaine Marchi; Julie McCarrier; Lara K. Kimmig; Seiji Mizuno; Gael Nicolas; Yosuke Nishio; Tomoo Ogi; Juan Pié; Jordyn Prell; Beatriz Puisac; Feliciano J. Ramos; Emmanuelle Ranza; Claire Redin; Eric Rush; Shinji Saitoh; Hanan E. Shamseldin; Susan Starling; Esteban Astiazaran-Symonds; Sara H. Eltahir; Alma Kuechler; Bekim Sadikovic; Binnaz Yalcin; Kerstin S. Wendt; Frank J. Kaiser

Assessing Quality of Life in PACS1 Syndrome Using the KidsLife Scale from Mothers’ and Fathers’ Perspectives 使用KidsLife量表从母亲和父亲的角度评估PACS1综合征患者的生活质量

Behavioral Sciences

IF2.5

2026-02-28

OAAI

Julia del Rincón; Laura Trujillano; Cristina Lucia-Campos; Isabel Xiang; Ana Latorre-Pellicer; Beatriz Puisac; María Arnedo; Marta Gil-Salvador; Laura Acero; Pilar Pamplona; Ariadna Ayerza-Casas; Feliciano J. Ramos; Juan Pié

Ligand–Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency 错义变异在线粒体HMG-CoA合成酶缺乏症中的配体-酶相互作用建模

International Journal of Molecular Sciences 2025, Vol. 26, Page 8266

IF4.9

2025-08-27

PREAI

María Arnedo; David Ros-Pardo; Beatriz Puisac; Cristina Lucia-Campos; Marta Gil-Salvador; Ana Latorre-Pellicer; Íñigo Marcos-Alcalde; Juan Pié; Paulino Gómez-Puertas

AI-Based Facial Phenotyping Supports a Shared Molecular Axis in PACS1-, PACS2-, and WDR37-Related Syndromes 基于人工智能的面部表型分析支持PACS1-、PACS2-和WDR37-相关综合征存在共享分子轴。

International Journal of Molecular Sciences 2025, Vol. 26, Page 7964

IF4.9

2025-08-20

PREAI

Julia del Rincón; Marta Gil-Salvador; Cristina Lucia-Campos; Laura Acero; Laura Trujillano; María Arnedo; Pilar Pamplona; Ariadna Ayerza-Casas; Beatriz Puisac; Feliciano J. Ramos; Juan Pié; Ana Latorre-Pellicer

An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype 与Cornelia de Lange综合征表型相关的AFF2基因内的基因内复制

FRONTIERS IN GENETICS

IF2.8

2024-11-01

OAAI

Lucia-Campos, Cristina; Parenti, Ilaria; Latorre-Pellicer, Ana; Gil-Salvador, Marta; Bestetti, Ilaria; Finelli, Palma; Larizza, Lidia; Arnedo, Maria; Ayerza-Casas, Ariadna; Del Rincon, Julia; Trujillano, Laura; Morte, Beatriz; Perez-Jurado, Luis A.; Lapunzina, Pablo; Leitao, Elsa; Beygo, Jasmin; Lich, Christina; Kilpert, Fabian; Kaya, Sabine; Depienne, Christel; Kaiser, Frank J.; Ramos, Feliciano J.; Puisac, Beatriz; Pie, Juan

Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder

JOURNAL OF CLINICAL MEDICINE

IF2.9

2023-06-14

OAAI

Latorre-Pellicer, Ana; Trujillano, Laura; del Rincon, Julia; Pena-Marco, Monica; Gil-Salvador, Marta; Lucia-Campos, Cristina; Arnedo, Maria; Puisac, Beatriz; Ramos, Feliciano J.; Ayerza-Casas, Ariadna; Pie, Juan

High rate of autonomic neuropathy in Cornelia de Lange Syndrome

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-10-30

OAAI

Pablo, M. J.; Pamplona, P.; Haddad, M.; Benavente, I; Latorre-Pellicer, A.; Arnedo, M.; Trujillano, L.; Bueno-Lozano, G.; Kerr, L. M.; Huisman, S. A.; Kaiser, F. J.; Ramos, F.; Kline, A. D.; Pie, J.; Puisac, B.

Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood

SCIENTIFIC REPORTS

IF3.9

2021-07-29

OAAI

Latorre-Pellicer, Ana; Gil-Salvador, Marta; Parenti, Ilaria; Lucia-Campos, Cristina; Trujillano, Laura; Marcos-Alcalde, Inigo; Arnedo, Maria; Ascaso, Angela; Ayerza-Casas, Ariadna; Antonanzas-Perez, Rebeca; Gervasini, Cristina; Piccione, Maria; Mariani, Milena; Weber, Axel; Kanber, Deniz; Kuechler, Alma; Munteanu, Martin; Khuller, Katharina; Bueno-Lozano, Gloria; Puisac, Beatriz; Gomez-Puertas, Paulino; Selicorni, Angelo; Kaiser, Frank J.; Ramos, Feliciano J.; Pie, Juan

Disruption of NIPBL/Scc2 in Cornelia de Lange Syndrome provokes cohesin genome-wide redistribution with an impact in the transcriptome

NATURE COMMUNICATIONS

IF15.7

2021-07-27

OAAI

Garcia, Patricia; Fernandez-Hernandez, Rita; Cuadrado, Ana; Coca, Ignacio; Gomez, Antonio; Maqueda, Maria; Latorre-Pellicer, Ana; Puisac, Beatriz; Ramos, Feliciano J.; Sandoval, Juan; Esteller, Manel; Luis Mosquera, Jose; Rodriguez, Jairo; Pie, J.; Losada, Ana; Queralt, Ethel

MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome

CELL REPORTS

IF6.9

2020-05-01

OAAI

Parenti, Ilaria; Diab, Farah; Gil, Sara Ruiz; Mulugeta, Eskeatnaf; Casa, Valentina; Berutti, Riccardo; Brouwer, Rutger W. W.; Dupe, Valerie; Eckhold, Juliane; Graf, Elisabeth; Puisac, Beatriz; Ramos, Feliciano; Schwarzmayr, Thomas; Gines, Macarena Moronta; van Staveren, Thomas; van IJcken, Wilfred F. J.; Strom, Tim M.; Pie, Juan; Watrin, Erwan; Kaiser, Frank J.; Wendt, Kerstin S.

Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

HUMAN GENETICS

IF3.6

2020-03-19

OAAI

Krab, Lianne C.; Marcos-Alcalde, Inigo; Assaf, Melissa; Balasubramanian, Meena; Andersen, Janne Bayer; Bisgaard, Anne-Marie; Fitzpatrick, David R.; Gudmundsson, Sanna; Huisman, Sylvia A.; Kalayci, Tugba; Maas, Saskia M.; Martinez, Francisco; McKee, Shane; Menke, Leonie A.; Mulder, Paul A.; Murch, Oliver D.; Parker, Michael; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Mokry, Jill A. Rosenfeld; Scarano, Emanuela; Shinawi, Marwan; Gomez-Puertas, Paulino; Tumer, Zeynep; Hennekam, Raoul C.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

NATURE REVIEWS GENETICS

IF52

2018-07-11

242

OAAI

Kline, Antonie D.; Moss, Joanna F.; Selicorni, Angelo; Bisgaard, Anne-Marie; Deardorff, Matthew A.; Gillett, Peter M.; Ishman, Stacey L.; Kerr, Lynne M.; Levin, Alex V.; Mulder, Paul A.; Ramos, Feliciano J.; Wierzba, Jolanta; Ajmone, Paola Francesca; Axtell, David; Blagowidow, Natalie; Cereda, Anna; Costantino, Antonella; Cormier-Daire, Valerie; FitzPatrick, David; Grados, Marco; Groves, Laura; Guthrie, Whitney; Huisman, Sylvia; Kaiser, Frank J.; Koekkoek, Gerritjan; Levis, Mary; Mariani, Milena; McCleery, Joseph P.; Menke, Leonie A.; Metrena, Amy; O'Connor, Julia; Oliver, Chris; Pie, Juan; Piening, Sigrid; Potter, Carol J.; Quaglio, Ana L.; Redeker, Egbert; Richman, David; Rigamonti, Claudia; Shi, Angell; Tumer, Zeynep; Van Balkom, Ingrid D. C.; Hennekam, Raoul C.

Reduced immunoglobulin gene diversity in patients with Cornelia de Lange syndrome

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IF11.2

2018-01-01

OAAI

Bjorkman, Andrea; Du, Likun; van der Burg, Mirjam; Cormier-Daire, Valerie; Borck, Guntram; Pie, Juan; Anderlid, Britt-Marie; Hammarstrom, Lennart; Strom, Lena; de Villartay, Jean-Pierre; Kipling, David; Walters, Deborah Dunn; Pan-Hammarstrom, Qiang

Two-step ATP-driven opening of cohesin head

SCIENTIFIC REPORTS

IF3.9

2017-06-12

OAAI

Marcos-Alcalde, Inigo; Mendieta-Moreno, Jesus I.; Puisac, Beatriz; Concepcion Gil-Rodriguez, Maria; Hernandez-Marcos, Maria; Soler-Polo, Diego; Ramos, Feliciano J.; Ortega, Jose; Pie, Juan; Mendieta, Jesus; Gomez-Puertas, Paulino

Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes

HUMAN GENETICS

IF3.6

2017-01-24

PREAI

Parenti, Ilaria; Teresa-Rodrigo, Maria E.; Pozojevic, Jelena; Gil, Sara Ruiz; Bader, Ingrid; Braunholz, Diana; Bramswig, Nuria C.; Gervasini, Cristina; Larizza, Lidia; Pfeiffer, Lutz; Ozkinay, Ferda; Ramos, Feliciano; Reiz, Benedikt; Rittinger, Olaf; Strom, Tim M.; Watrin, Erwan; Wendt, Kerstin; Wieczorek, Dagmar; Wollnik, Bernd; Baquero-Montoya, Carolina; Pie, Juan; Deardorff, Matthew A.; Gillessen-Kaesbach, Gabriele; Kaiser, Frank J.

De Novo Heterozygous Mutations in SMC3 Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes

HUMAN MUTATION

IF3.7

2015-03-17

OAAI

Gil-Rodriguez, Maria Concepcion; Deardorff, Matthew A.; Ansari, Morad; Tan, Christopher A.; Parenti, Ilaria; Baquero-Montoya, Carolina; Ousager, Lilian B.; Puisac, Beatriz; Hernandez-Marcos, Maria; Esperanza Teresa-Rodrigo, Maria; Marcos-Alcalde, Inigo; Wesselink, Jan-Jaap; Lusa-Bernal, Silvia; Bijlsma, Emilia K.; Braunholz, Diana; Bueno-Martinez, Ines; Clark, Dinah; Cooper, Nicola S.; Curry, Cynthia J.; Fisher, Richard; Fryer, Alan; Ganesh, Jaya; Gervasini, Cristina; Gillessen-Kaesbach, Gabriele; Guo, Yiran; Hakonarson, Hakon; Hopkin, Robert J.; Kaur, Maninder; Keating, Brendan J.; Kibaek, Maria; Kinning, Esther; Kleefstra, Tjitske; Kline, Antonie D.; Kuchinskaya, Ekaterina; Larizza, Lidia; Li, Yun R.; Liu, Xuanzhu; Mariani, Milena; Picker, Jonathan D.; Pie, Angeles; Pozojevic, Jelena; Queralt, Ethel; Richer, Julie; Roeder, Elizabeth; Sinha, Anubha; Scott, Richard H.; So, Joyce; Wusik, Katherine A.; Wilson, Louise; Zhang, Jianguo; Gomez-Puertas, Paulino; Casale, Cesar H.; Stroem, Lena; Selicorni, Angelo; Ramos, Feliciano J.; Jackson, Laird G.; Krantz, Ian D.; Das, Soma; Hennekam, Raoul C. M.; Kaiser, Frank J.; FitzPatrick, David R.; Pie, Juan

Clinical utility gene card for: Cornelia de Lange syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2014-12-24

OAAI

Ramos, Feliciano J.; Puisac, Beatriz; Baquero-Montoya, Carolina; Concepcion Gil-Rodriguez, Ma; Bueno, Ines; Deardorff, Matthew A.; Hennekam, Raoul C.; Kaiser, Frank J.; Krantz, Ian D.; Musio, Antonio; Selicorni, Angelo; FitzPatrick, David R.; Pie, Juan

Effects of detyrosinated tubulin on Na+, K+-ATPase activity and erythrocyte function in hypertensive subjects

FEBS LETTERS

IF3

2014-12-23

OAAI

Amaiden, Marina R.; Santander, Veronica S.; Monesterolo, Noelia E.; Nigra, Ayelen D.; Rivelli, Juan F.; Campetelli, Alexis N.; Pie, Juan; Casale, Cesar H.

Genetic basis of mitochondrial HMG-CoA synthase deficiency

HUMAN GENETICS

IF3.6

2014-02-12

PREAI

Aledo, R; Zschocke, J; Pié, J; Mir, C; Fiesel, S; Mayatepek, E; Hoffmann, GF; Casals, N; Hegardt, FG

研究方向