Berta Almoguera

12PUBLICATIONS
50CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsMechanobiologyNeurology and neuromuscular diseasesCardiology (incl. cardiovascular diseases)
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Publications (12)

|Aug 10, 2026
An episignature informed systematic analysis to ascertain the clinical significance and consequences of CHD8 missense variants.

|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

|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

|Oct 02, 2022
Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.

Marta Del Pozo-Valero, Marta Corton, Rosario López-Rodríguez

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Frequent Collaborators

6 joint publications

Carmen Ayuso

4 joint publications

Saoud Tahsin-Swafiri

2 joint publications

Pablo Mínguez

1 joint publications

Cristina Rodilla