Publications by authors named "Juan Pie"

Claim this Profile
P
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy, Deniz Kanber

medRxiv· November 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
AI-Based Facial Phenotyping Supports a Shared Molecular Axis in -, -, and -Related Syndromes.
Julia Del Rincón, Marta Gil-Salvador, Cristina Lucia-Campos, Laura Acero, Laura Trujillano

Int J Mol Sci· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.
María Arnedo, David Ros-Pardo, Beatriz Puisac, Cristina Lucia-Campos, Marta Gil-Salvador

Int J Mol Sci· August 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.
Marta Gil-Salvador, Laura Trujillano, Cristina Lucia-Campos, Julia Del Rincón, Pilar Pamplona

Sci Rep· July 2025

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
An intragenic duplication in the AFF2 gene associated with Cornelia de Lange syndrome phenotype.
Cristina Lucia-Campos, Ilaria Parenti, Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Bestetti, Christel Depienne

Front Genet· November 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cornelia de Lange Spectrum.
Ángela Ascaso, María Arnedo, Beatriz Puisac, Ana Latorre-Pellicer, Julia Del Rincón

An Pediatr (Engl Ed)· May 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
Assessment of Quality of Life Using the Kidslife Scale in Individuals With Cornelia de Lange Syndrome.
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, Ana Latorre-Pellicer, María Arnedo

Cureus· April 2024

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
G
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Juan Pie

Am J Med Genet A· August 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heart Disease Characterization and Myocardial Strain Analysis in Patients with Neurodevelopmental Disorder.
Ana Latorre-Pellicer, Laura Trujillano, Julia Del Rincón, Mónica Peña-Marco, Marta Gil-Salvador

J Clin Med· June 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Cornelia de Lange syndrome and cancer: An open question.
Maria M Pallotta, Maddalena Di Nardo, Raoul C M Hennekam, Frank J Kaiser, Ilaria Parenti

Am J Med Genet A· January 2023

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Subclinical myocardial dysfunction is revealed by speckle tracking echocardiography in patients with Cornelia de Lange syndrome.
Laura Trujillano, Ariadna Ayerza-Casas, Beatriz Puisac, Gonzalo González García, Ángela Ascaso

Int J Cardiovasc Imaging· November 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Case report: A novel case of parental mosaicism in gene causes inherited Cornelia de Lange syndrome.
Marta Gil-Salvador, Ana Latorre-Pellicer, Cristina Lucia-Campos, María Arnedo, María Teresa Darnaude

Front Genet· September 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
A
A Novel Intragenic Duplication in the Gene Underlying a Case of Cornelia de Lange Syndrome.
Cristina Lucia-Campos, Irene Valenzuela, Ana Latorre-Pellicer, David Ros-Pardo, Marta Gil-Salvador

Genes (Basel)· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
Molecular Basis of the Schuurs-Hoeijmakers Syndrome: What We Know about the Gene and the PACS-1 Protein and Novel Therapeutic Approaches.
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador

Int J Mol Sci· August 2022

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
Things are not always what they seem: From Cornelia de Lange to KBG phenotype in a girl with genetic variants in NIPBL and ANKRD11.
Ana Latorre-Pellicer, Ángela Ascaso, Cristina Lucia-Campos, Marta Gil-Salvador, María Arnedo

Mol Genet Genomic Med· November 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
Clinical relevance of postzygotic mosaicism in Cornelia de Lange syndrome and purifying selection of NIPBL variants in blood.
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano

Sci Rep· July 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
S
Schuurs-Hoeijmakers Syndrome ( Neurodevelopmental Disorder): Seven Novel Patients and a Review.
Jair Tenorio-Castaño, Beatriz Morte, Julián Nevado, Víctor Martinez-Glez, Fernando Santos-Simarro

Genes (Basel)· May 2021

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heterozygous de novo variants in CSNK1G1 are associated with syndromic developmental delay and autism spectrum disorder.
Nina B Gold, Dong Li, Anna Chassevent, Frank J Kaiser, Ilaria Parenti

Clin Genet· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
Pathogenic variants in EP300 and ANKRD11 in patients with phenotypes overlapping Cornelia de Lange syndrome.
Francesco Cucco, Patrizia Sarogni, Sara Rossato, Mirella Alpa, Alessandra Patimo

Am J Med Genet A· July 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Delineation of phenotypes and genotypes related to cohesin structural protein RAD21.
Lianne C Krab, Iñigo Marcos-Alcalde, Melissa Assaf, Meena Balasubramanian, Janne Bayer Andersen, Juan Pie

Hum Genet· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.
Ilaria Parenti, Farah Diab, Sara Ruiz Gil, Eskeatnaf Mulugeta, Valentina Casa

Cell Rep· May 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
T
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.
Stefan Bagheri-Fam, Huijun Chen, Sean Wilson, Katie Ayers, James Hughes, Pierre Calvel

PLoS One· April 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
E
Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.
Ana Latorre-Pellicer, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo

Int J Mol Sci· February 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
M
More Than One HMG-CoA Lyase: The Classical Mitochondrial Enzyme Plus the Peroxisomal and the Cytosolic Ones.
María Arnedo, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Rebeca Antoñanzas-Peréz

Int J Mol Sci· December 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Antonie D Kline, Joanna F Moss, Angelo Selicorni, Anne-Marie Bisgaard, Matthew A Deardorff, Juan Pie, Sigrid Piening

Nat Rev Genet· October 2018

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis