author-photo

Anne-Laure Mosca-Boidron

University of Burgundy

41

Papers

806

Citations

Citation Trend

Filter By

Papers (27) Sort By

Journal Conference Others

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

2021 Molecular Genetics & Genomic Medicine
Show All
- Source
- Cite
- Save
Citations (0)
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

2020 European Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (2)
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.

2020 Human Genetics
Show All
- Source
- Cite
- Save
Citations (2)
De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

2020 European Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (11)
Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations

2020 European Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (0)
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

2019 Genetics in Medicine
Show All
- Source
- Cite
- Save
Citations (75)
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

2019 European Journal of Human Genetics
Show All
- Source
- Cite
- Save
Citations (7)
16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

2018 Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (19)
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

2018 Genetics in Medicine
Show All
- Source
- Cite
- Save
Citations (90)
Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

2018 American Journal of Medical Genetics
Show All
- Source
- Cite
- Save
Citations (8)