The extent, mechanism, and consequences of genetic variation, for recombination rate

The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.

Epigenetics & chromatin·2023

eoPred: predicting the placental phenotype of early-onset preeclampsia using public DNA methylation data.

Frontiers in genetics·2023

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

European journal of medical genetics·2017

ADAM12-directed ectodomain shedding of E-cadherin potentiates trophoblast fusion.

Cell death and differentiation·2015

Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.

Molecular human reproduction·2014

Activation of endocrine-related gene expression in placental choriocarcinoma cell lines following DNA methylation knock-down.

Molecular human reproduction·2014

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

American journal of human genetics·2026

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

American journal of human genetics·2026

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

American journal of human genetics·2026

A phenotypic paradigm for cerebral palsy genetics.

American journal of human genetics·2026

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

American journal of human genetics·2026

The emergence of putative epistatic mutations and iSNVs in SARS-CoV-2 XBB.1.16 variants linked with alteration in immunogenic determinants.

Frontiers in immunology·2026

Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency.

Journal of human immunity·2026

Nanopore sequencing enhances the detection of low-frequency variants and mutational linkage in HIV-1 drug resistance.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases·2026

Transposon Sequencing in Leptospira interrogans.

Methods in molecular biology (Clifton, N.J.)·2026

Genetic Tools and Approaches to Study Bacterial Efflux Pumps.

Methods in molecular biology (Clifton, N.J.)·2026

Visual Detection and Stratification of Pathogenic mtDNA SNV Heteroplasmy by Balancing FnCas12a Signal Output and Allelic Discrimination.

Analytical chemistry·2026

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The extent, mechanism, and consequences of genetic variation, for recombination rate

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The application of epiphenotyping approaches to DNA methylation array studies of the human placenta.

eoPred: predicting the placental phenotype of early-onset preeclampsia using public DNA methylation data.

A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

ADAM12-directed ectodomain shedding of E-cadherin potentiates trophoblast fusion.

Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.

Activation of endocrine-related gene expression in placental choriocarcinoma cell lines following DNA methylation knock-down.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

A phenotypic paradigm for cerebral palsy genetics.

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

The emergence of putative epistatic mutations and iSNVs in SARS-CoV-2 XBB.1.16 variants linked with alteration in immunogenic determinants.

Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency.

Nanopore sequencing enhances the detection of low-frequency variants and mutational linkage in HIV-1 drug resistance.

Transposon Sequencing in Leptospira interrogans.

Genetic Tools and Approaches to Study Bacterial Efflux Pumps.

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The extent, mechanism, and consequences of genetic variation, for recombination rate

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