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Affiliations

Publications (26)

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Disease progression model anchored around clinical diagnosis in longitudinal cohorts: example of Alzheimer's disease and related dementia.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.

Malignant hypercalcemia revealing a diffuse large B-cell lymphoma in a patient with a previous diagnosis of chronic myelomonocytic leukemia: An uncommon hematological coexistence.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

DNA repair functional analyses of NBN hypomorphic variants associated with NBN-related infertility.

Increasing knowledge in

Severe Phenotype in Patients with Large Deletions of

Personalized prediction of progression in pre-dementia patients based on individual biomarker profile: A development and validation study.

Phenotypic characterization of seven individuals with Marbach-Schaaf neurodevelopmental syndrome.

Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.

Possible incomplete penetrance of Xq28 int22h-1/int22h-2 duplication.

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder.

How Selection Over Time Contributes to the Inconsistency of the Association Between Sex/Gender and Cognitive Decline Across Cognitive Aging Cohorts.

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.

Associations among hypertension, dementia biomarkers, and cognition: The MEMENTO cohort.

The different clinical facets of

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.

Characteristics and outcomes associated with CD2 and CD25 expression on bone marrow mast cells in patients with systemic mastocytosis.

Comparison of prognostic scores according to WHO classification in 170 patients with advanced mastocytosis and C-finding treated with midostaurin.

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