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1
Cellular Senescence: Defining a Path Forward
Cellular Senescence: Defining a Path Forward
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Cellular Senescence: Defining a Path Forward

Cell, 2019-10, Vol.179 (4), p.813-827 [Peer Reviewed Journal]

2019 Elsevier Inc. ;Copyright © 2019 Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2019.10.005 ;PMID: 31675495

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2
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease
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The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

American journal of human genetics, 2015-07, Vol.97 (1), p.111-124 [Peer Reviewed Journal]

2015 The Authors ;Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jul 2, 2015 ;2015 The Authors 2015 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2015.05.020 ;PMID: 26119816

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3
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution
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Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution

American journal of human genetics, 2021-09, Vol.108 (9), p.1551-1557 [Peer Reviewed Journal]

2021 American Society of Human Genetics ;Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2021 American Society of Human Genetics. 2021 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2021.06.020 ;PMID: 34329581

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4
Management of Secondary Genomic Findings
Management of Secondary Genomic Findings
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Management of Secondary Genomic Findings

American journal of human genetics, 2020-07, Vol.107 (1), p.3-14 [Peer Reviewed Journal]

Published by Elsevier Inc. ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2020.05.002 ;PMID: 32619490

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5
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
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MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease

American journal of human genetics, 2022-02, Vol.109 (2), p.210-222 [Peer Reviewed Journal]

2022 The Authors ;Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved. ;2022 The Authors 2022 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2021.12.014 ;PMID: 35065709

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6
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality
Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality
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Combined Utility of 25 Disease and Risk Factor Polygenic Risk Scores for Stratifying Risk of All-Cause Mortality

American journal of human genetics, 2020-09, Vol.107 (3), p.418-431 [Peer Reviewed Journal]

2020 American Society of Human Genetics ;Copyright © 2020 American Society of Human Genetics. All rights reserved. ;2020 American Society of Human Genetics. 2020 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2020.07.002 ;PMID: 32758451

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7
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
Interpretable prioritization of splice variants in diagnostic next-generation sequencing
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Interpretable prioritization of splice variants in diagnostic next-generation sequencing

American journal of human genetics, 2021-09, Vol.108 (9), p.1564-1577 [Peer Reviewed Journal]

2021 American Society of Human Genetics ;Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2021 American Society of Human Genetics. 2021 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2021.06.014 ;PMID: 34289339

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8
A dyadic approach to the delineation of diagnostic entities in clinical genomics
A dyadic approach to the delineation of diagnostic entities in clinical genomics
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A dyadic approach to the delineation of diagnostic entities in clinical genomics

American journal of human genetics, 2021-01, Vol.108 (1), p.8-15 [Peer Reviewed Journal]

2020 American Society of Human Genetics ;Copyright © 2020 American Society of Human Genetics. All rights reserved. ;2020 American Society of Human Genetics. 2020 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2020.11.013 ;PMID: 33417889

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9
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions
A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions
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A Survey of Rare Epigenetic Variation in 23,116 Human Genomes Identifies Disease-Relevant Epivariations and CGG Expansions

American journal of human genetics, 2020-10, Vol.107 (4), p.654-669 [Peer Reviewed Journal]

2020 American Society of Human Genetics ;Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2020 American Society of Human Genetics. 2020 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2020.08.019 ;PMID: 32937144

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10
A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells
A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells
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A Mutation in the Transcription Factor Foxp3 Drives T Helper 2 Effector Function in Regulatory T Cells

Immunity (Cambridge, Mass.), 2019-02, Vol.50 (2), p.362-377.e6 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Feb 19, 2019 ;ISSN: 1074-7613 ;EISSN: 1097-4180 ;DOI: 10.1016/j.immuni.2018.12.016 ;PMID: 30709738

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11
Targeted long-read sequencing identifies missing disease-causing variation
Targeted long-read sequencing identifies missing disease-causing variation
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Targeted long-read sequencing identifies missing disease-causing variation

American journal of human genetics, 2021-08, Vol.108 (8), p.1436-1449 [Peer Reviewed Journal]

2021 American Society of Human Genetics ;Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2021 American Society of Human Genetics. 2021 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2021.06.006 ;PMID: 34216551

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12
Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases
Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases
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Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases

Molecular cell, 2020-08, Vol.79 (3), p.504-520.e9 [Peer Reviewed Journal]

2020 The Authors ;Copyright © 2020 The Authors. Published by Elsevier Inc. All rights reserved. ;2020 The Authors 2020 ;ISSN: 1097-2765 ;EISSN: 1097-4164 ;DOI: 10.1016/j.molcel.2020.07.001 ;PMID: 32707033

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13
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

American journal of human genetics, 2019-06, Vol.104 (6), p.1182-1201 [Peer Reviewed Journal]

2019 American Society of Human Genetics ;Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2019 American Society of Human Genetics. 2019 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2019.04.011 ;PMID: 31130284

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14
Lentiviral Gene Therapy in HSCs Restores Lineage-Specific Foxp3 Expression and Suppresses Autoimmunity in a Mouse Model of IPEX Syndrome
Lentiviral Gene Therapy in HSCs Restores Lineage-Specific Foxp3 Expression and Suppresses Autoimmunity in a Mouse Model of IPEX Syndrome
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Lentiviral Gene Therapy in HSCs Restores Lineage-Specific Foxp3 Expression and Suppresses Autoimmunity in a Mouse Model of IPEX Syndrome

Cell stem cell, 2019-02, Vol.24 (2), p.309-317.e7 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;ISSN: 1934-5909 ;EISSN: 1875-9777 ;DOI: 10.1016/j.stem.2018.12.003 ;PMID: 30639036

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15
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions
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Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions

American journal of human genetics, 2019-04, Vol.104 (4), p.685-700 [Peer Reviewed Journal]

2019 American Society of Human Genetics ;Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2019 American Society of Human Genetics. 2019 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2019.03.008 ;PMID: 30929737

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16
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm
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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

American journal of human genetics, 2020-11, Vol.107 (5), p.942-952 [Peer Reviewed Journal]

Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2020 American Society of Human Genetics. 2020 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2020.10.003 ;PMID: 33157007

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17
An Expanded View of Complex Traits: From Polygenic to Omnigenic
An Expanded View of Complex Traits: From Polygenic to Omnigenic
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An Expanded View of Complex Traits: From Polygenic to Omnigenic

Cell, 2017-06, Vol.169 (7), p.1177-1186 [Peer Reviewed Journal]

2017 Elsevier Inc. ;Copyright © 2017 Elsevier Inc. All rights reserved. ;ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2017.05.038 ;PMID: 28622505

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18
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning
PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning
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PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning

American journal of human genetics, 2022-02, Vol.109 (2), p.270-281 [Peer Reviewed Journal]

2021 American Society of Human Genetics ;Copyright © 2021 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2021 American Society of Human Genetics. 2021 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2021.12.008 ;PMID: 35063063

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19
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
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Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

Cell, 2004-10, Vol.119 (1), p.19-31 [Peer Reviewed Journal]

ISSN: 0092-8674 ;EISSN: 1097-4172 ;DOI: 10.1016/j.cell.2004.09.011 ;PMID: 15454078

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20
A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions
A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions
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A Critical Appraisal of the Scientific Basis of Commercial Genomic Profiles Used to Assess Health Risks and Personalize Health Interventions

American journal of human genetics, 2008-03, Vol.82 (3), p.593-599 [Peer Reviewed Journal]

2008 The American Society of Human Genetics ;2008 INIST-CNRS ;Copyright University of Chicago, acting through its Press Mar 3, 2008 ;2008 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.. 2008 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2007.12.020 ;PMID: 18319070 ;CODEN: AJHGAG

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