Isabel Sanchez-Lorda

Madrid, MD, Spain

Last Updated: 09/26/2026

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Found 34 publications

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.

Germline pathogenic variants associated with prostate cancer susceptibility in a Spanish cohort: emergence of new key players.

Journal: Scientific reports

Published: March 04, 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Journal: Genome medicine

Published: December 16, 2025

Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.

Prenatal Deep Phenotyping in Genetic Syndromes Diagnosed in the First Trimester of Pregnancy.

Journal: Prenatal diagnosis

Published: December 04, 2025

Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.

Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders.

Journal: European journal of human genetics : EJHG

Published: July 16, 2025

Adult-Onset Ataxia and Tremor as a Manifestation of Undiagnosed Phenylketonuria.

Adult-Onset Ataxia and Tremor as a Manifestation of Undiagnosed Phenylketonuria.

Journal: Movement disorders clinical practice

Published: January 22, 2025

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

Journal: Database : the journal of biological databases and curation

Published: April 02, 2024

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome: A case report.

Journal: Clinical genetics

Published: May 25, 2022

Five years' experience of the clinical exome sequencing in a Spanish single center.

Five years' experience of the clinical exome sequencing in a Spanish single center.

Journal: Scientific reports

Published: May 19, 2022

Generalized dystonia without Parkinsonism in an LRRK2 carrier.

Generalized dystonia without Parkinsonism in an LRRK2 carrier.

Journal: Clinical parkinsonism & related disorders

Published: April 27, 2022

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

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

Journal: Journal of medical genetics

Published: April 12, 2022

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Allelic overload and its clinical modifier effect in Bardet-Biedl syndrome.

Journal: NPJ genomic medicine

Published: March 28, 2022

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Journal: Investigative ophthalmology & visual science

Published: February 04, 2022

Showing 1-12 of 34

Last Updated: 09/26/2026