Beatriz Puisac

University of Zaragoza

H指数:21

被引数:1,284

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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

2026-09-160

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

2026-03-300

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

2026-02-280

OAAI

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

2025-08-270

PRE

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

2025-08-200

PRE

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

2024-11-010

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

JOURNAL OF CLINICAL MEDICINE

IF2.9

2023-06-140

OAAI

High rate of autonomic neuropathy in Cornelia de Lange Syndrome

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2021-10-302

OAAI

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

SCIENTIFIC REPORTS

IF3.9

2021-07-2916

OAAI

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

NATURE COMMUNICATIONS

IF15.7

2021-07-2726

OAAI

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

CELL REPORTS

IF6.9

2020-05-0138

OAAI

Two-step ATP-driven opening of cohesin head

SCIENTIFIC REPORTS

IF3.9

2017-06-1222

OAAI

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

HUMAN MUTATION

IF3.7

2015-03-1776

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

2014-12-2436

OAAI

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

HUMAN MOLECULAR GENETICS

IF3.2

2014-01-08137

OAAI

Kaiser, Frank J.; Ansari, Morad; Braunholz, Diana; Gil-Rodriguez, Maria Concepcion; Decroos, Christophe; Wilde, Jonathan J.; Fincher, Christopher T.; Kaur, Maninder; Bando, Masashige; Amor, David J.; Atwal, Paldeep S.; Bahlo, Melanie; Bowman, Christine M.; Bradley, Jacquelyn J.; Brunner, Han G.; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A.; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C.; Francey, Lauren J.; Gehlken, Ulrike; Guillen-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D.; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M.; Yntema, Helger; Innes, A. Micheil; Kline, Antonie D.; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B.; Mannini, Linda; Mckee, Shane; Mehta, Sarju G.; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R.; Moser, Joe-Ann S.; Noon, Sarah E.; Nozaki, Naohito; Nunes, Luis; Pappas, John G.; Penney, Lynette S.; Perez-Aytes, Antonio; Petersen, Michael B.; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E.; Schindeler, Karen L.; Siu, Victoria M.; Stark, Zornitza; Strom, Samuel P.; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C.; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J.; Jackson, Laird G.; Shirahige, Katsuhiko; Pie, Juan; Christianson, David W.; Krantz, Ian D.; Fitzpatrick, David R.; Deardorff, Matthew A.

Carnitine palmitoyltransferase 1C deficiency causes motor impairment and hypoactivity

BEHAVIOURAL BRAIN RESEARCH

IF2.3

2013-11-0132

PREAI

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination

JOURNAL OF EXPERIMENTAL MEDICINE

IF10.6

2013-10-2136

OAAI

Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency

MOLECULAR GENETICS AND METABOLISM