Read more about the article Positioning Europe for the EPITRANSCRIPTOMICS challenge.
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Positioning Europe for the EPITRANSCRIPTOMICS challenge.

Abstract The genetic alphabet consists of the four letters: C, A, G, and T in DNA and C,A,G, and U in RNA. Triplets of these four letters jointly encode 20…

Continue ReadingPositioning Europe for the EPITRANSCRIPTOMICS challenge.
Read more about the article Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
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Rothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.

Abstract Biallelic mutations in gene, a caretaker of the genome, cause Rothmund-Thomson type-II syndrome (RTS-II) and confer increased cancer risk if they damage the helicase domain. We describe five families…

Continue ReadingRothmund-Thomson Syndrome: Insights from New Patients on the Genetic Variability Underpinning Clinical Presentation and Cancer Outcome.
Read more about the article Sex-specific impact of prenatal androgens on social brain default mode subsystems.
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Sex-specific impact of prenatal androgens on social brain default mode subsystems.

Abstract Early-onset neurodevelopmental conditions (e.g., autism) affect males more frequently than females. Androgens may play a role in this male-bias by sex-differentially impacting early prenatal brain development, particularly neural circuits…

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Read more about the article Identification of nine new susceptibility loci for endometrial cancer.
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Identification of nine new susceptibility loci for endometrial cancer.

Abstract Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for…

Continue ReadingIdentification of nine new susceptibility loci for endometrial cancer.
Read more about the article Degradation and remobilization of endogenous retroviruses by recombination during the earliest stages of a germ-line invasion.
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Degradation and remobilization of endogenous retroviruses by recombination during the earliest stages of a germ-line invasion.

Abstract Endogenous retroviruses (ERVs) are proviral sequences that result from colonization of the host germ line by exogenous retroviruses. The majority of ERVs represent defective retroviral copies. However, for most…

Continue ReadingDegradation and remobilization of endogenous retroviruses by recombination during the earliest stages of a germ-line invasion.
Read more about the article Adaptation and conservation insights from the koala genome.
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Adaptation and conservation insights from the koala genome.

Abstract The koala, the only extant species of the marsupial family Phascolarctidae, is classified as 'vulnerable' due to habitat loss and widespread disease. We sequenced the koala genome, producing a…

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Read more about the article Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
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Noninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.

Abstract Autosomal dominant tubulointerstitial kidney disease caused by mucin-1 gene () mutations (ADTKD-) is characterized by progressive kidney failure. Genetic evaluation for ADTKD- specifically tests for a cytosine duplication that…

Continue ReadingNoninvasive Immunohistochemical Diagnosis and Novel Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease.
Read more about the article Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.
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Aniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.

Abstract Aniridia is a rare congenital ocular malformation that follows an autosomal dominant mode of inheritance. Most patients carry pathogenic point mutations in the paired box 6 gene (), but…

Continue ReadingAniridia due to a novel microdeletion affecting regulatory enhancers: case report and review of the literature.
Read more about the article Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
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Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.

Abstract Precise characterization of apparently balanced complex chromosomal rearrangements in non-affected individuals is crucial as they may result in reproductive failure, recurrent miscarriages or affected offspring. We present a family,…

Continue ReadingCryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
Read more about the article A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.
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A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.

Abstract The breast cancer risk variants identified in genome-wide association studies explain only a small fraction of the familial relative risk, and the genes responsible for these associations remain largely…

Continue ReadingA transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer.