Publicacións en colaboración con investigadores/as de University of Malaya (69)

2024

  1. Electrodiagnostic subtyping in Guillain–Barré syndrome patients in the International Guillain–Barré Outcome Study

    European Journal of Neurology, Vol. 31, Núm. 9

2023

  1. A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: Application to BRCA1 and BRCA2

    Human Mutation, Vol. 2023

  2. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry

    Genome Medicine, Vol. 15, Núm. 1

  3. Author Correction: Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk (Nature Genetics, (2023), 55, 9, (1435-1439), 10.1038/s41588-023-01466-z)

    Nature Genetics

  4. CSF Findings in Relation to Clinical Characteristics, Subtype, and Disease Course in Patients With Guillain-Barré Syndrome

    Neurology, Vol. 100, Núm. 23, pp. E2386-E2397

  5. Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

    Nature Genetics, Vol. 55, Núm. 12, pp. 2065-2074

  6. Diminishing benefits of urban living for children and adolescents’ growth and development

    Nature, Vol. 615, Núm. 7954, pp. 874-883

  7. Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry

    American Journal of Human Genetics, Vol. 110, Núm. 7, pp. 1200-1206

  8. Global variation in diabetes diagnosis and prevalence based on fasting glucose and hemoglobin A1c

    Nature Medicine, Vol. 29, Núm. 11, pp. 2885-2901

2022

  1. An International Perspective on Preceding Infections in Guillain-Barré Syndrome: The IGOS-1000 Cohort

    Neurology, Vol. 99, Núm. 12, pp. E1299-E1313

  2. Breast cancer risks associated with missense variants in breast cancer susceptibility genes

    Genome Medicine, Vol. 14, Núm. 1

  3. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

    Journal of Clinical Oncology, Vol. 40, Núm. 14, pp. 1529-1541

  4. Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach

    Human Mutation, Vol. 43, Núm. 12, pp. 1921-1944

  5. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers

    Communications biology, Vol. 5, Núm. 1, pp. 1061

  6. Electrodiagnosis of Guillain-Barre syndrome in the International GBS Outcome Study: Differences in methods and reference values

    Clinical Neurophysiology, Vol. 138, pp. 231-240

  7. Erratum: Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk (European journal of human genetics : EJHG (2022) 30 3 (349-362))

    European journal of human genetics : EJHG

  8. Incorporating progesterone receptor expression into the PREDICT breast prognostic model

    European Journal of Cancer, Vol. 173, pp. 178-193

  9. Pathology of tumors associated with pathogenic germline variants in 9 breast cancer susceptibility genes

    JAMA Oncology, Vol. 8, Núm. 3

  10. Polygenic risk modeling for prediction of epithelial ovarian cancer risk

    European journal of human genetics : EJHG, Vol. 30, Núm. 3, pp. 349-362

  11. Predicting Outcome in Guillain-Barré Syndrome International Validation of the Modified Erasmus GBS Outcome Score

    Neurology, Vol. 98, Núm. 5, pp. E518-E532