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JASPAR 2020: update of the open-access database of transcription factor binding profiles

Nucleic acids research, 2020-01, Vol.48 (D1), p.D87

2020

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Polyploidy can drive rapid adaptation in yeast

Nature (London), 2015-03, Vol.519 (7543), p.349-352

2015

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ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Genome Biology, 2020-04, Vol.21 (1), p.102-14, Article 102

2020

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Systems genetics analysis of the LXS recombinant inbred mouse strains:Genetic and molecular insights into acute ethanol tolerance

PloS one, 2020-10, Vol.15 (10), p.e0240253

2020

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A trans-acting Variant within the Transcription Factor RIM101 Interacts with Genetic Background to Determine its Regulatory Capacity

PLoS genetics, 2016-01, Vol.12 (1), p.e1005746-e1005746

2016

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Prolonged Cre expression driven by the α-myosin heavy chain promoter can be cardiotoxic

Journal of molecular and cellular cardiology, 2015-09, Vol.86, p.54-61

2015

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Genome-wide dose-dependent inhibition of histone deacetylases studies reveal their roles in enhancer remodeling and suppression of oncogenic super-enhancers

Nucleic acids research, 2018-02, Vol.46 (4), p.1756-1776

2018

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Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC‐related disorder

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2219-2224

2023

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The Influence of Polyploidy on the Evolution of Yeast Grown in a Sub-Optimal Carbon Source

Molecular biology and evolution, 2017-10, Vol.34 (10), p.2690-2703

2017

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Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis

American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63548-n/a

2024

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Demonstrating the utility of flexible sequence queries against indexed short reads with FlexTyper

PLoS computational biology, 2021-03, Vol.17 (3), p.e1008815-e1008815

2021

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Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data

Gigascience, 2019-07, Vol.8 (7)

2019

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GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases

Human mutation, 2021-04, Vol.42 (4), p.346-358

2021

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The variability conundrum in neurometabolic degenerative diseases

Molecular genetics and metabolism, 2020-12, Vol.131 (4), p.367-369

2020

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Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?

American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3089-3095

2022

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Introduction to Genomic Analysis Workshop: A catalyst for engaging life-science researchers in high throughput analysis [version 1; peer review: 2 approved]

F1000 research, 2019, Vol.8, p.1221-1221

2019

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Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy

Frontiers in cell and developmental biology, 2020-06, Vol.8, p.520

2020

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Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Allergy, asthma, and clinical immunology, 2021-01, Vol.17 (1), p.9-9, Article 9

2021

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Adult GAMT deficiency: A literature review and report of two siblings

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100761-100761, Article 100761

2021

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MANTA2, update of the Mongo database for the analysis of transcription factor binding site alterations

Scientific data, 2018-07, Vol.5 (1), p.180141-180141, Article 180141

2018

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Quantitative Trait Locus Mapping of Acute Functional Tolerance in the LXS Recombinant Inbred Strains

Alcoholism, clinical and experimental research, 2015-04, Vol.39 (4), p.611-620

2015

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REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

Genome medicine, 2022-08, Vol.14 (1), p.84-84, Article 84

2022

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Evidence for Association Between Low Frequency Variants in CHRNA6/CHRNB3 and Antisocial Drug Dependence

Behavior genetics, 2016-09, Vol.46 (5), p.693-704

2016

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metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

Npj genomic medicine, 2020-07, Vol.5 (1), p.25, Article 25

2020

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Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

The New England journal of medicine, 2019-04, Vol.380 (15), p.1433-1441

2019

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JASPAR 2020: update of the open-access database of transcription factor binding profiles

Polyploidy can drive rapid adaptation in yeast

ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing data

Systems genetics analysis of the LXS recombinant inbred mouse strains:Genetic and molecular insights into acute ethanol tolerance

A trans-acting Variant within the Transcription Factor RIM101 Interacts with Genetic Background to Determine its Regulatory Capacity

Prolonged Cre expression driven by the α-myosin heavy chain promoter can be cardiotoxic

Genome-wide dose-dependent inhibition of histone deacetylases studies reveal their roles in enhancer remodeling and suppression of oncogenic super-enhancers

Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC‐related disorder

The Influence of Polyploidy on the Evolution of Yeast Grown in a Sub-Optimal Carbon Source

Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis

Demonstrating the utility of flexible sequence queries against indexed short reads with FlexTyper

Identifying, understanding, and correcting technical artifacts on the sex chromosomes in next-generation sequencing data

GeneBreaker: Variant simulation to improve the diagnosis of Mendelian rare genetic diseases

The variability conundrum in neurometabolic degenerative diseases

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?

Introduction to Genomic Analysis Workshop: A catalyst for engaging life-science researchers in high throughput analysis [version 1; peer review: 2 approved]

Multi-Omic Approach to Identify Phenotypic Modifiers Underlying Cerebral Demyelination in X-Linked Adrenoleukodystrophy

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy

Adult GAMT deficiency: A literature review and report of two siblings

MANTA2, update of the Mongo database for the analysis of transcription factor binding site alterations

Quantitative Trait Locus Mapping of Acute Functional Tolerance in the LXS Recombinant Inbred Strains

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

Evidence for Association Between Low Frequency Variants in CHRNA6/CHRNB3 and Antisocial Drug Dependence

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS

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