Lista de obras -

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

artículo científico publicado en 2017

A genome-wide association study of variants associated with acquisition of Staphylococcus aureus bacteremia in a healthcare setting

artículo científico publicado en 2014

A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome

artículo científico publicado en 2013

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

artículo científico publicado en 2019

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis

artículo científico publicado en 2017

Bayesian estimation of genetic regulatory effects in high-throughput reporter assays

scientific article published on 01 January 2020

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

artículo científico publicado en 2020

Correcting signal biases and detecting regulatory elements in STARR-seq data

artículo científico publicado en 2021

De novo mutations in epileptic encephalopathies

artículo científico publicado en 2013

Developing High-Throughput Assays to Analyze and Screen Electrophysiological Phenotypes

artículo científico publicado en 2018

Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits

artículo científico publicado en 2020

Efficient estimation of grouped survival models.

artículo científico publicado en 2019

Exome-Based Rare-Variant Analyses in CKD

scientific article published on 13 May 2019

Facilitating the Calculation of the Efficient Score Using Symbolic Computing

Haplotype Association Mapping Identifies a Candidate Gene Region in Mice Infected With Staphylococcus aureus

artículo científico publicado en 2012

Incorporating external information to improve sparse signal detection in rare-variant gene-set-based analyses

artículo científico publicado en 2020

Leveraging Prior Information to Detect Causal Variants via Multi-Variant Regression ⬇️

artículo científico publicado el 6 de junio de 2013

Leveraging population information in family-based rare variant association analyses of quantitative traits

artículo científico publicado en 2016

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

Mapping eQTL by leveraging multiple tissues and DNA methylation

artículo científico publicado en 2017

Neurogranin, Encoded by the Schizophrenia Risk Gene NRGN, Bidirectionally Modulates Synaptic Plasticity via Calmodulin-Dependent Regulation of the Neuronal Phosphoproteome

artículo científico publicado en 2020

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

artículo científico publicado en 2017

Overexpression of NEUROG2 and NEUROG1 in human embryonic stem cells produces a network of excitatory and inhibitory neurons

artículo científico publicado en 2019

Prevalences of Type 2 Diabetes, the Insulin Resistance Syndrome, and Coronary Heart Disease in an Elderly, Biethnic Population ⬇️

artículo científico publicado el 1 de junio de 1998

Response to Lee et al

article

Score-based adjustment for confounding by population stratification in genetic association studies

artículo científico publicado en 2010

Sequencing studies in human genetics: design and interpretation.

artículo científico publicado en 2013

Targeted long-read sequencing identifies missing disease-causing variation

artículo científico publicado en 2021

Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls

artículo científico publicado en 2016

Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies

artículo científico publicado en 2015

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

artículo científico publicado en 2015

bcSeq: an R package for fast sequence mapping in high-throughput shRNA and CRISPR screens

artículo científico publicado en 2018

meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays

scientific article published on 01 October 2018

Lista de obras de

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

A genome-wide association study of variants associated with acquisition of Staphylococcus aureus bacteremia in a healthcare setting

A longitudinal examination of the psychoeducational, neurocognitive, and psychiatric functioning in children with 22q11.2 deletion syndrome

A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS

An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis

Bayesian estimation of genetic regulatory effects in high-throughput reporter assays

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

Correcting signal biases and detecting regulatory elements in STARR-seq data

De novo mutations in epileptic encephalopathies

Developing High-Throughput Assays to Analyze and Screen Electrophysiological Phenotypes

Effects of a patient-derived de novo coding alteration of CACNA1I in mice connect a schizophrenia risk gene with sleep spindle deficits

Efficient estimation of grouped survival models.

Exome-Based Rare-Variant Analyses in CKD

Facilitating the Calculation of the Efficient Score Using Symbolic Computing

Haplotype Association Mapping Identifies a Candidate Gene Region in Mice Infected With Staphylococcus aureus

Incorporating external information to improve sparse signal detection in rare-variant gene-set-based analyses

Leveraging Prior Information to Detect Causal Variants via Multi-Variant Regression ⬇️

Leveraging population information in family-based rare variant association analyses of quantitative traits

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

Mapping eQTL by leveraging multiple tissues and DNA methylation

Neurogranin, Encoded by the Schizophrenia Risk Gene NRGN, Bidirectionally Modulates Synaptic Plasticity via Calmodulin-Dependent Regulation of the Neuronal Phosphoproteome

Orion: Detecting regions of the human non-coding genome that are intolerant to variation using population genetics

Overexpression of NEUROG2 and NEUROG1 in human embryonic stem cells produces a network of excitatory and inhibitory neurons

Prevalences of Type 2 Diabetes, the Insulin Resistance Syndrome, and Coronary Heart Disease in an Elderly, Biethnic Population ⬇️

Response to Lee et al

Score-based adjustment for confounding by population stratification in genetic association studies

Sequencing studies in human genetics: design and interpretation.

Targeted long-read sequencing identifies missing disease-causing variation

Testing Rare-Variant Association without Calling Genotypes Allows for Systematic Differences in Sequencing between Cases and Controls

Testing the effect of rare compound-heterozygous and recessive mutations in case--parent sequencing studies

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

bcSeq: an R package for fast sequence mapping in high-throughput shRNA and CRISPR screens

meaRtools: An R package for the analysis of neuronal networks recorded on microelectrode arrays