| Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance ? | Clinical genetics |  | | 2026 | 12 | 252 |
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| Adult Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With NUP93 Mutation | Kidney medicine | | | 2025 | 20 | 47 |
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| Resilience in Alzheimer's disease: Impact of operationalization and methodological choices | Alzheimer's & dementia | | | 2025 | 131 | 323 |
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| Comprehensive genetic diagnosis and therapeutic perspectives in 155 children with developmental and epileptic encephalopathy | European journal of paediatric neurology |  | | 2025 | 41 | 1 |
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| Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses | npj genomic medicine | | | 2024 | 18 | 21 |
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| Comparison of plasma and neuroimaging biomarkers to predict cognitive decline in non-demented memory clinic patients | Alzheimer's research & therapy | | | 2024 | 158 | 196 |
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| Enhancing fetal outcomes in GCK-MODY pregnancies : a precision medicine approach via non-invasive prenatal GCK mutation detection | Frontiers in medicine | | | 2024 | 117 | 158 |
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| Detection of TPSAB1 copy number variation for the diagnosis of hereditary alpha-tryptasemia by quantitative PCR | Clinical and experimental allergy | | | 2024 | 110 | 0 |
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| A peripheral signature of Alzheimer's disease featuring microbiota-gut-brain axis markers | Alzheimer's research & therapy | | | 2023 | 82 | 121 |
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| Utilité clinique des genome boards pour les maladies génétiques complexes | Revue médicale suisse | | | 2023 | 198 | 194 |
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| Noninvasive prenatal diagnosis of Mendelian disorders for consanguineous couples by relative genotype dosage | Clinical genetics | | | 2023 | 101 | 89 |
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| Dementia prevention in memory clinics : recommendations from the european task force for brain health services | The Lancet regional health. Europe | | | 2023 | 123 | 288 |
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| Variable Intrafamilial Expression of ABCB4 Disease | ACG case reports journal | | | 2023 | 92 | 117 |
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| Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts | Genetics in medicine | | | 2022 | 78 | 105 |
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| 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 | 171 | 404 |
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| Molecular characterization of pathogenic OTOA gene conversions in hearing loss patients | Human Mutation | | | 2021 | 381 | 527 |
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| Benefits of exome sequencing in children with suspected isolated hearing loss | Genes | | | 2021 | 319 | 495 |
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| Dementia risk communication. A user manual for Brain Health Services — part 3 of 6 | Alzheimer's research & therapy | | | 2021 | 140 | 273 |
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| Bi-allelic loss of ERGIC1 causes relatively mild arthrogryposis | Clinical genetics | | | 2021 | 171 | 114 |
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| LARS2-Perrault syndrome: a new case report and literature review | BMC Medical Genetics | | | 2020 | 483 | 544 |
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| Génétique des troubles auditifs chez l'enfant | Revue médicale suisse | | | 2019 | 406 | 378 |
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| Handicap intellectuel : apport de la génétique pour le diagnostic étiologique | Revue médicale suisse | | | 2018 | 472 | 155 |
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