Lista de obras -

A General and Robust Framework for Secondary Traits Analysis.

artículo científico publicado en 2016

A genome-wide scan statistic framework for whole-genome sequence data analysis

scientific article published on 09 July 2019

A new testing strategy to identify rare variants with either risk or protective effect on disease

artículo científico publicado en 2011

A semi-supervised approach for predicting cell-type specific functional consequences of non-coding variation using MPRAs

scientific article published in Nature Communications

A spectral approach integrating functional genomic annotations for coding and noncoding variants

artículo científico publicado en 2016

Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data

scientific article published on 01 April 2020

Comparing the power of family-based association tests for sequence data with applications in the GAW18 simulated data

artículo científico publicado en 2014

Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm

artículo científico publicado en 2007

Copy number variation genotyping using family information ⬇️

artículo científico publicado el 9 de mayo de 2013

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia

artículo científico publicado en 2016

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

artículo científico publicado en 2012

Discovering Influential Variables: A General Computer Intensive Method for Common Genetic Disorders

Disease Heritability Inferred from Familial Relationships Reported in Medical Records

Does rate of progression run in essential tremor families? Slower vs. faster progressors ⬇️

artículo científico publicado el 31 de octubre de 2012

Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF

artículo científico publicado en 2012

Empirical Bayes scan statistics for detecting clusters of disease risk variants in genetic studies

artículo científico publicado en 2015

Essential Tremor in a Charcot-Marie-Tooth Type 2C Kindred Does Not Segregate with the TRPV4 R269H Mutation

artículo científico publicado en 2014

Estimating the number of unseen variants in the human genome

scholarly article

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

artículo científico publicado en 2017

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

artículo científico publicado en 2017

FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications

artículo científico publicado en 2018

Family-based association tests for sequence data, and comparisons with population-based association tests

artículo científico publicado en 2013

Finding disease variants in Mendelian disorders by using sequence data: methods and applications

artículo científico publicado en 2011

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

artículo científico publicado en 2008

Genetic variants within the serotonin transporter associated with familial risk for major depression

artículo científico publicado en 2015

Genomewide weighted hypothesis testing in family-based association studies, with an application to a 100K scan

artículo científico publicado en 2007

Identification of candidate genes for familial early-onset essential tremor

artículo científico publicado en 2015

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism

artículo científico publicado en 2014

Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches

artículo científico publicado en 2011

Integrative analysis of functional genomic annotations and sequencing data to identify rare causal variants via hierarchical modeling

artículo científico publicado en 2015

Joint study of genetic regulators for expression traits related to breast cancer

artículo científico publicado en 2007

Linkage disequilibrium mapping of the chromosome 6q21-22.31 bipolar I disorder susceptibility locus

artículo científico publicado en 2010

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

On quality control measures in genome-wide association studies: a test to assess the genotyping quality of individual probands in family-based association studies and an application to the HapMap data

artículo científico publicado en 2009

On the Optimal Design of Genetic Variant Discovery Studies ⬇️

artículo científico publicado el 27 de agosto de 2010

On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test

artículo científico publicado en 2008

On the frequency of copy number variants

artículo científico publicado en 2008

QRank: a novel quantile regression tool for eQTL discovery

artículo científico publicado en 2017

Rare Variant Analysis for Family-Based Design ⬇️

artículo científico publicado el 15 de enero de 2013

Rare-variant association tests in longitudinal studies, with an application to the Multi-Ethnic Study of Atherosclerosis (MESA).

artículo científico publicado en 2017

Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection.

artículo científico publicado en 2011

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

artículo científico publicado en 2013

Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets

artículo científico publicado en 2012

Sequence kernel association tests for the combined effect of rare and common variants

artículo científico publicado en 2013

Small sample properties of rare variant analysis methods

artículo científico publicado en 2014

Study Designs for Identification of Rare Disease Variants in Complex Diseases: The Utility of Family-Based Designs ⬇️

artículo científico publicado el 11 de agosto de 2011

Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-Analysis of Noncoding Variation in Metabochip Data

artículo científico

Using linkage and association to identify and model genetic effects: summary of GAW15 Group 4

article

Lista de obras de

A General and Robust Framework for Secondary Traits Analysis.

A genome-wide scan statistic framework for whole-genome sequence data analysis

A new testing strategy to identify rare variants with either risk or protective effect on disease

A semi-supervised approach for predicting cell-type specific functional consequences of non-coding variation using MPRAs

A spectral approach integrating functional genomic annotations for coding and noncoding variants

Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data

Comparing the power of family-based association tests for sequence data with applications in the GAW18 simulated data

Constructing gene association networks for rheumatoid arthritis using the backward genotype-trait association (BGTA) algorithm

Copy number variation genotyping using family information ⬇️

De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia

De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.

Discovering Influential Variables: A General Computer Intensive Method for Common Genetic Disorders

Disease Heritability Inferred from Familial Relationships Reported in Medical Records

Does rate of progression run in essential tremor families? Slower vs. faster progressors ⬇️

Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF

Empirical Bayes scan statistics for detecting clusters of disease risk variants in genetic studies

Essential Tremor in a Charcot-Marie-Tooth Type 2C Kindred Does Not Segregate with the TRPV4 R269H Mutation

Estimating the number of unseen variants in the human genome

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations

FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications

Family-based association tests for sequence data, and comparisons with population-based association tests

Finding disease variants in Mendelian disorders by using sequence data: methods and applications

Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis

Genetic variants within the serotonin transporter associated with familial risk for major depression

Genomewide weighted hypothesis testing in family-based association studies, with an application to a 100K scan

Identification of candidate genes for familial early-onset essential tremor

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism

Identifying rare disease variants in the Genetic Analysis Workshop 17 simulated data: a comparison of several statistical approaches

Integrative analysis of functional genomic annotations and sequencing data to identify rare causal variants via hierarchical modeling

Joint study of genetic regulators for expression traits related to breast cancer

Linkage disequilibrium mapping of the chromosome 6q21-22.31 bipolar I disorder susceptibility locus

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

On quality control measures in genome-wide association studies: a test to assess the genotyping quality of individual probands in family-based association studies and an application to the HapMap data

On the Optimal Design of Genetic Variant Discovery Studies ⬇️

On the analysis of copy-number variations in genome-wide association studies: a translation of the family-based association test

On the frequency of copy number variants

QRank: a novel quantile regression tool for eQTL discovery

Rare Variant Analysis for Family-Based Design ⬇️

Rare-variant association tests in longitudinal studies, with an application to the Multi-Ethnic Study of Atherosclerosis (MESA).

Refinement of primate copy number variation hotspots identifies candidate genomic regions evolving under positive selection.

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets

Sequence kernel association tests for the combined effect of rare and common variants

Small sample properties of rare variant analysis methods

Study Designs for Identification of Rare Disease Variants in Complex Diseases: The Utility of Family-Based Designs ⬇️

Unified Sequence-Based Association Tests Allowing for Multiple Functional Annotations and Meta-Analysis of Noncoding Variation in Metabochip Data

Using linkage and association to identify and model genetic effects: summary of GAW15 Group 4