Berta Almoguera

11PUBLICATIONS
37CO-AUTHORS
NeurogeneticsDevelopmental genetics (incl. sex determination)Neurology and neuromuscular diseasesMechanobiologyGene expression (incl. microarray and other genome-wide approaches)
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Publications (11)

|Mar 14, 2026
Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.

Lucía López-López, Laura Lapeña-Gil, Yolanda Benítez

|Jan 16, 2026
A Growth Chart for KBG Syndrome.

Karen J Low, Elena Martinez-Cayuelas, Berta Almoguera

|Feb 19, 2025
Complex Multifocal Dystonia, Intellectual Disability, and Stereotypies Due to a Novel DYRK1A Variant.

Laura Santos Sánchez de Las Matas, Carlos Ordás, Berta Almoguera

|Jul 03, 2024
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Vicken Totten, Gisela Teixido-Tura, Fermina Lopez-Grondona

|Sep 28, 2023
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.

Patricia Pascual, Jair Tenorio-Castano, Cyril Mignot

|Nov 29, 2022
Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients.

Elena Martinez-Cayuelas, Fiona Blanco-Kelly, Fermina Lopez-Grondona

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Frequent Collaborators

6 joint publications

Carmen Ayuso

3 joint publications

Saoud Tahsin-Swafiri

2 joint publications

Pablo Mínguez

1 joint publications

Cristina Rodilla