Benefits and dangers of genetic tests

Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin.

Clinical genetics·2017

Bioinformatics in otolaryngology research. Part two: other high-throughput platforms in genomics and epigenetics.

The Journal of laryngology and otology·2014

Bioinformatics in otolaryngology research. Part one: concepts in DNA sequencing and gene expression analysis.

The Journal of laryngology and otology·2014

Prostate cancer susceptibility genes on 8p21-23 in a Dutch population.

Prostate cancer and prostatic diseases·2013

Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects.

Clinical genetics·2011

The impact of Converso Jews on the genomes of modern Latin Americans.

Human genetics·2011

Wake-activated neuronal populations that regulate sleep drive.

Nature·2026

Observation of conformal field theory spectra in a quantum simulator.

Nature·2026

Human brain organoids record the passage of time over multiple years.

Nature·2026

Discovery of a star sensitive to the spin of Sagittarius A.

Nature·2026

Asymmetric prefrontal representations for leader-follower dynamics.

Nature·2026

Family genetic designs in MoBa provide insights into health and functioning.

Nature·2026

Molecular characterization of a rare norovirus GII.8[P8] strain detected during pediatric acute gastroenteritis surveillance in Harbin, China.

Virus genes·2026

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

American journal of medical genetics. Part A·2026

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Neurology. Genetics·2026

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Cureus·2026

Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.

Frontiers in neurology·2026

Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina.

bioRxiv : the preprint server for biology·2026

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Benefits and dangers of genetic tests

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Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin.

Bioinformatics in otolaryngology research. Part two: other high-throughput platforms in genomics and epigenetics.

Bioinformatics in otolaryngology research. Part one: concepts in DNA sequencing and gene expression analysis.

Prostate cancer susceptibility genes on 8p21-23 in a Dutch population.

Rapidly screening variants of uncertain significance in the MAP3K1 gene for phenotypic effects.

The impact of Converso Jews on the genomes of modern Latin Americans.

Wake-activated neuronal populations that regulate sleep drive.

Observation of conformal field theory spectra in a quantum simulator.

Human brain organoids record the passage of time over multiple years.

Discovery of a star sensitive to the spin of Sagittarius A.

Asymmetric prefrontal representations for leader-follower dynamics.

Family genetic designs in MoBa provide insights into health and functioning.

Molecular characterization of a rare norovirus GII.8[P8] strain detected during pediatric acute gastroenteritis surveillance in Harbin, China.

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.

Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants: A Case Report.

Unmasked Behavioral Disturbance Following Traumatic Brain Injury in an Adult With Previously Undiagnosed Sotos Syndrome.

Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.

Distinct neurogenic progenitor cell populations balance cell type production in the embryonic mouse retina.

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Benefits and dangers of genetic tests

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