MA
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance ? | Clinical genetics |  | 2026 | 9 | 81 | ||
| Adult Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With NUP93 Mutation | Kidney medicine | | 2025 | 18 | 33 | ||
| Resilience in Alzheimer's disease: Impact of operationalization and methodological choices | Alzheimer's & dementia | | 2025 | 129 | 261 | ||
| Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy | European journal of paediatric neurology |  | 2025 | 37 | 1 | ||
| Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | npj genomic medicine | | 2024 | 16 | 18 | ||
| Comparison of plasma and neuroimaging biomarkers to predict cognitive decline in non-demented memory clinic patients | Alzheimer's research & therapy | | 2024 | 156 | 168 | ||
| Enhancing fetal outcomes in GCK-MODY pregnancies : a precision medicine approach via non-invasive prenatal GCK mutation detection | Frontiers in medicine | | 2024 | 115 | 140 | ||
| Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha-tryptasemia by quantitative PCR | Clinical and experimental allergy | | 2024 | 104 | 0 | ||
| A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers | Alzheimer's research & therapy | | 2023 | 80 | 115 | ||
| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | 2023 | 195 | 156 | ||
| Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | | 2023 | 98 | 84 | ||
| Dementia prevention in memory clinics : recommendations from the european task force for brain health services | The Lancet regional health. Europe | | 2023 | 121 | 217 | ||
| Variable Intrafamilial Expression of ABCB4 Disease | ACG case reports journal | | 2023 | 88 | 100 | ||
| Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts | Genetics in medicine | | 2022 | 76 | 90 | ||
| Modifiable risk factors for dementia and dementia risk profiling. A user manual for Brain Health Services — part 2 of 6 | Alzheimer's research & therapy | | 2021 | 167 | 282 | ||
| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | 2021 | 379 | 486 | ||
| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | 2021 | 317 | 452 | ||
| Dementia risk communication. A user manual for Brain Health Services — part 3 of 6 | Alzheimer's research & therapy | | 2021 | 138 | 229 | ||
| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | 2021 | 169 | 106 | ||
| LARS2-Perrault syndrome: a new case report and literature review | BMC Medical Genetics | | 2020 | 480 | 497 | ||
| Génétique des troubles auditifs chez l'enfant | Revue médicale suisse | | 2019 | 404 | 352 | ||
| Handicap intellectuel : apport de la génétique pour le diagnostic étiologique | Revue médicale suisse | | 2018 | 469 | 153 |
