Leema Robert
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 23 publications
Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Journal: American journal of human genetics
Published: February 15, 2026
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Journal: American journal of human genetics
Published: July 24, 2024
The development of inherited cardiac conditions services: current position and future perspectives.
Journal: British medical bulletin
Published: January 29, 2024
Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.
Journal: Genome medicine
Published: January 26, 2024
Best practice recommendations for medically assisted reproduction in patients with known cardiovascular disease or at high risk of cardiovascular disease.
Journal: Human fertility (Cambridge, England)
Published: January 10, 2024
Association of Titin Variations With Late-Onset Dilated Cardiomyopathy.
Journal: JAMA cardiology
Published: February 09, 2022
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.
Journal: European journal of medical genetics
Published: January 11, 2022
Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN).
Journal: European journal of medical genetics
Published: December 30, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Journal: The New England journal of medicine
Published: November 10, 2021
Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.
Journal: Expert review of cardiovascular therapy
Published: December 13, 2019
eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN).
Journal: Orphanet journal of rare diseases
Published: November 01, 2019
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants.
Journal: Orphanet journal of rare diseases
Published: June 24, 2019
Last Updated: 09/26/2026