Jordi Colorado-Leno

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 11 publications

Hair bulb and oral mucosa DNA for prompt germline testing in hematologic neoplasms.

Hair bulb and oral mucosa DNA for prompt germline testing in hematologic neoplasms.

Journal: Blood cancer journal

Published: May 12, 2026

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 06, 2025

Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype.

Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype.

Journal: Prenatal diagnosis

Published: October 14, 2025

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 22, 2024

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.

Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.

Journal: Neurology. Genetics

Published: February 20, 2024

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Journal: Frontiers in endocrinology

Published: January 09, 2024

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.

An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.

Journal: European journal of human genetics : EJHG

Published: September 30, 2022

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Journal: International journal of molecular sciences

Published: June 22, 2022

Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.

Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.

Journal: Journal of medical genetics

Published: March 30, 2022

Whole-genome sequencing reveals insights into the adaptation of French Charolais cattle to Cuban tropical conditions.

Whole-genome sequencing reveals insights into the adaptation of French Charolais cattle to Cuban tropical conditions.

Journal: Genetics, selection, evolution : GSE

Published: September 03, 2020

A Pathway-Centered Analysis of Pig Domestication and Breeding in Eurasia.

A Pathway-Centered Analysis of Pig Domestication and Breeding in Eurasia.

Journal: G3 (Bethesda, Md.)

Published: May 14, 2017

Showing 1-11 of 11

Last Updated: 09/26/2026