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1
Clinical application of whole-exome sequencing across clinical indications
Clinical application of whole-exome sequencing across clinical indications
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Clinical application of whole-exome sequencing across clinical indications

Genetics in medicine, 2016-07, Vol.18 (7), p.696-704 [Peer Reviewed Journal]

2016 The Author(s) ;Copyright Nature Publishing Group Jul 2016 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2015.148 ;PMID: 26633542

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2
Induced pluripotent stem cells in disease modelling and drug discovery
Induced pluripotent stem cells in disease modelling and drug discovery
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Induced pluripotent stem cells in disease modelling and drug discovery

Nature reviews. Genetics, 2019-07, Vol.20 (7), p.377-388 [Peer Reviewed Journal]

COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;2019© Springer Nature Limited 2019 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/s41576-019-0100-z ;PMID: 30737492

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3
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR
Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR
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Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR

Clinical chemistry (Baltimore, Md.), 2018-02, Vol.64 (2), p.336-345 [Peer Reviewed Journal]

2017 American Association for Clinical Chemistry. ;COPYRIGHT 2018 American Association for Clinical Chemistry, Inc. ;Copyright American Association for Clinical Chemistry Feb 2018 ;ISSN: 0009-9147 ;EISSN: 1530-8561 ;DOI: 10.1373/clinchem.2017.278101 ;PMID: 29097507

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4
Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges
Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges
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Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges

PLoS genetics, 2017-10, Vol.13 (10), p.e1006944-e1006944 [Peer Reviewed Journal]

COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Paternoster L, Tilling K, Davey Smith G (2017) Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges. PLoS Genet13(10): e1006944. https://doi.org/10.1371/journal.pgen.1006944 ;2017 Paternoster et al 2017 Paternoster et al ;2017 Public Library of Science. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited: Paternoster L, Tilling K, Davey Smith G (2017) Genetic epidemiology and Mendelian randomization for informing disease therapeutics: Conceptual and methodological challenges. PLoS Genet13(10): e1006944. https://doi.org/10.1371/journal.pgen.1006944 ;ISSN: 1553-7404 ;ISSN: 1553-7390 ;EISSN: 1553-7404 ;DOI: 10.1371/journal.pgen.1006944 ;PMID: 28981501

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5
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research
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Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research

Genetics (Austin), 2017-09, Vol.207 (1), p.9-27 [Peer Reviewed Journal]

Copyright © 2017 by the Genetics Society of America. ;Copyright Genetics Society of America Sep 2017 ;Copyright © 2017 by the Genetics Society of America 2017 ;ISSN: 1943-2631 ;ISSN: 0016-6731 ;EISSN: 1943-2631 ;DOI: 10.1534/genetics.117.203067 ;PMID: 28874452

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6
Piezos thrive under pressure: mechanically activated ion channels in health and disease
Piezos thrive under pressure: mechanically activated ion channels in health and disease
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Piezos thrive under pressure: mechanically activated ion channels in health and disease

Nature reviews. Molecular cell biology, 2017-12, Vol.18 (12), p.771-783 [Peer Reviewed Journal]

COPYRIGHT 2017 Nature Publishing Group ;COPYRIGHT 2017 Nature Publishing Group ;Copyright Nature Publishing Group Dec 2017 ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/nrm.2017.92 ;PMID: 28974772

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7
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?
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The influence of social determinants of health on the genetic diagnostic odyssey: who remains undiagnosed, why, and to what effect?

Pediatric research, 2021-01, Vol.89 (2), p.295-300 [Peer Reviewed Journal]

International Pediatric Research Foundation, Inc 2020. ;ISSN: 0031-3998 ;EISSN: 1530-0447 ;DOI: 10.1038/s41390-020-01151-5 ;PMID: 32932427

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8
Pluripotent stem cells in disease modelling and drug discovery
Pluripotent stem cells in disease modelling and drug discovery
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Pluripotent stem cells in disease modelling and drug discovery

Nature reviews. Molecular cell biology, 2016-03, Vol.17 (3), p.170-182 [Peer Reviewed Journal]

COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Mar 2016 ;ISSN: 1471-0072 ;EISSN: 1471-0080 ;DOI: 10.1038/nrm.2015.27 ;PMID: 26818440

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9
X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations
X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations
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X-Linked Agammagobulinemia in a Large Series of North African Patients: Frequency, Clinical Features and Novel BTK Mutations

Journal of clinical immunology, 2016-04, Vol.36 (3), p.187-194 [Peer Reviewed Journal]

Springer Science+Business Media New York 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0271-9142 ;EISSN: 1573-2592 ;DOI: 10.1007/s10875-016-0251-z ;PMID: 26931785 ;CODEN: JCIMDO

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10
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
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Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers

Genetics in medicine, 2017-02, Vol.19 (2), p.209-214 [Peer Reviewed Journal]

2017 The Author(s) ;Copyright Nature Publishing Group Feb 2017 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.88 ;PMID: 27441994

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11
Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases
Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases
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Universal Haplotype-Based Noninvasive Prenatal Testing for Single Gene Diseases

Clinical chemistry (Baltimore, Md.), 2017-02, Vol.63 (2), p.513-524 [Peer Reviewed Journal]

2016 American Association for Clinical Chemistry. ;COPYRIGHT 2017 American Association for Clinical Chemistry, Inc. ;Copyright American Association for Clinical Chemistry Feb 2017 ;ISSN: 0009-9147 ;EISSN: 1530-8561 ;DOI: 10.1373/clinchem.2016.268375 ;PMID: 27932412

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12
Autoimmune Polyendocrine Syndromes
Autoimmune Polyendocrine Syndromes
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Autoimmune Polyendocrine Syndromes

The New England journal of medicine, 2018-03, Vol.378 (12), p.1132-1141 [Peer Reviewed Journal]

Copyright © 2018 Massachusetts Medical Society. All rights reserved. ;ISSN: 0028-4793 ;ISSN: 1533-4406 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMra1713301 ;PMID: 29562162

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13
Hypoxia, angiogenesis, and metabolism in the hereditary kidney cancers
Hypoxia, angiogenesis, and metabolism in the hereditary kidney cancers
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Hypoxia, angiogenesis, and metabolism in the hereditary kidney cancers

The Journal of clinical investigation, 2019-02, Vol.129 (2), p.442-451 [Peer Reviewed Journal]

COPYRIGHT 2019 American Society for Clinical Investigation ;COPYRIGHT 2019 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Feb 2019 ;Copyright © 2019, American Society for Clinical Investigation 2019 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI120855 ;PMID: 30614813

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14
Monogenic diabetes: a gateway to precision medicine in diabetes
Monogenic diabetes: a gateway to precision medicine in diabetes
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Monogenic diabetes: a gateway to precision medicine in diabetes

The Journal of clinical investigation, 2021-02, Vol.131 (3) [Peer Reviewed Journal]

COPYRIGHT 2021 American Society for Clinical Investigation ;COPYRIGHT 2021 American Society for Clinical Investigation ;2021 American Society for Clinical Investigation 2021 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI142244 ;PMID: 33529164

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15
Guidelines for diagnostic next-generation sequencing
Guidelines for diagnostic next-generation sequencing
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Guidelines for diagnostic next-generation sequencing

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.2-5 [Peer Reviewed Journal]

Copyright Nature Publishing Group Jan 2016 ;Copyright © 2016 Macmillan Publishers Limited 2016 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2015.226 ;PMID: 26508566

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16
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
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Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

Human genetics, 2013-10, Vol.132 (10), p.1077-1130 [Peer Reviewed Journal]

The Author(s) 2013 ;COPYRIGHT 2013 Springer ;Springer-Verlag Berlin Heidelberg 2013 ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/s00439-013-1331-2 ;PMID: 23820649

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17
Dead Cas Systems: Types, Principles, and Applications
Dead Cas Systems: Types, Principles, and Applications
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Dead Cas Systems: Types, Principles, and Applications

International journal of molecular sciences, 2019-11, Vol.20 (23), p.6041 [Peer Reviewed Journal]

2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2019 by the authors. 2019 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms20236041 ;PMID: 31801211

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18
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
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Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

The Journal of clinical investigation, 2014-12, Vol.124 (12), p.5516-5520 [Peer Reviewed Journal]

COPYRIGHT 2014 American Society for Clinical Investigation ;COPYRIGHT 2014 American Society for Clinical Investigation ;Copyright American Society for Clinical Investigation Dec 2014 ;Copyright © 2014, American Society for Clinical Investigation 2014 American Society for Clinical Investigation ;ISSN: 0021-9738 ;EISSN: 1558-8238 ;DOI: 10.1172/JCI79100 ;PMID: 25401470

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19
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing
Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing
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Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing

Genetics in medicine, 2018-11, Vol.20 (11), p.1328-1333 [Peer Reviewed Journal]

Copyright Nature Publishing Group Nov 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2018.41 ;PMID: 29565419

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20
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
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Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders

Genetics in medicine, 2018-12, Vol.20 (12), p.1564-1574 [Peer Reviewed Journal]

2018 The Author(s) ;Copyright Nature Publishing Group Dec 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2018.39 ;PMID: 29595814

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