Saoud Tahsin-Swafiri

8PUBLICATIONS
45CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)NeurogeneticsGene mappingEpigenetics (incl. genome methylation and epigenomics)Predictive and prognostic markers
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Publications (8)

|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

|Mar 13, 2024
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.

Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly

|Feb 06, 2023
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant.

Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau

|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

|Jul 14, 2022
Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Irene Perea-Romero, Carlos Solarat, Fiona Blanco-Kelly

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Frequent Collaborators

6 joint publications

Carmen Ayuso

4 joint publications

Berta Almoguera

2 joint publications

Pablo Minguez

2 joint publications

Cristina Rodilla