Risk tables for genetic counselling in some common congenital malformations

Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.

Neurology·2012

[Cancer genetics: estimation of the needs of the population in France for the next ten years].

Bulletin du cancer·2009

Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families.

European journal of neurology·2009

PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history.

Genetic epidemiology·2008

A nonparametric method for penetrance function estimation.

Genetic epidemiology·2008

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

Journal of medical genetics·2008

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Journal of medical genetics·2026

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Journal of medical genetics·2026

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Journal of medical genetics·2026

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Journal of medical genetics·2026

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Journal of medical genetics·2026

Ethnic Genotype: Phenotype Correlation and Treatment of DADA2. A Single-center Cohort.

The Israel Medical Association journal : IMAJ·2026

Left BLP to dmPFC circuit dysfunction underlies autism-like behaviors induced by prenatal and lactational Bisphenol S exposure.

Journal of hazardous materials·2026

Causal relationship between sex hormones and ischemic stroke risk: A Mendelian randomization study.

Medicine·2026

Use of fixed-ratio combination of basal insulin and glucagon-like peptide-1 receptor agonists (GLP-1 RAs) in Asians with type 2 diabetes.

Primary care diabetes·2026

Single-cell spatial transcriptomic atlas of the mouse adrenal gland reveals sexual dimorphism in steroidogenic enzyme and hormone receptor expression.

Genomics·2026

Genomic response to sex-separated gene pools.

Evolution; international journal of organic evolution·2026

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Risk tables for genetic counselling in some common congenital malformations

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Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers.

[Cancer genetics: estimation of the needs of the population in France for the next ten years].

Penetrance estimation of TTR familial amyloid polyneuropathy (type I) in Brazilian families.

PEL: an unbiased method for estimating age-dependent genetic disease risk from pedigree data unselected for family history.

A nonparametric method for penetrance function estimation.

Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Exome sequencing and large-scale analysis of electronic medical record-linked biobank data identify candidate deafness genes.

Exploring the clinical and mutational spectrum of MORC2-associated disorders.

Founder variant in OTOG causing non-syndromic sensorineural hearing loss in Irish traveller population.

Risk of breast cancer after ovarian cancer in germline BRCA1/2 heterozygotes.

Rapid minigene workflow for functional reclassification of splicing variants in hereditary cancer diagnostics.

Ethnic Genotype: Phenotype Correlation and Treatment of DADA2. A Single-center Cohort.

Left BLP to dmPFC circuit dysfunction underlies autism-like behaviors induced by prenatal and lactational Bisphenol S exposure.

Causal relationship between sex hormones and ischemic stroke risk: A Mendelian randomization study.

Use of fixed-ratio combination of basal insulin and glucagon-like peptide-1 receptor agonists (GLP-1 RAs) in Asians with type 2 diabetes.

Single-cell spatial transcriptomic atlas of the mouse adrenal gland reveals sexual dimorphism in steroidogenic enzyme and hormone receptor expression.

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Risk tables for genetic counselling in some common congenital malformations

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