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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
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology
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Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

The Journal of biological chemistry, 2019-04, Vol.294 (14), p.5386-5395 [Peer Reviewed Journal]

2019 © 2019 by The American Society for Biochemistry and Molecular Biology, Inc. ;2019 by The American Society for Biochemistry and Molecular Biology, Inc. ;2019 by The American Society for Biochemistry and Molecular Biology, Inc. 2019 The American Society for Biochemistry and Molecular Biology, Inc. ;ISSN: 0021-9258 ;EISSN: 1083-351X ;DOI: 10.1074/jbc.R117.809194 ;PMID: 29233888

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3
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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4
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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5
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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6
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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7
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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8
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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9
Consanguinity and Inbreeding in Health and Disease in North African Populations
Consanguinity and Inbreeding in Health and Disease in North African Populations
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Consanguinity and Inbreeding in Health and Disease in North African Populations

Annual review of genomics and human genetics, 2019-08, Vol.20 (1), p.155-179 [Peer Reviewed Journal]

Copyright Annual Reviews, Inc. 2019 ;ISSN: 1527-8204 ;EISSN: 1545-293X ;DOI: 10.1146/annurev-genom-083118-014954 ;PMID: 31039041

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10
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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11
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency
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Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Blood, 2020-12, Vol.136 (23), p.2638-2655 [Peer Reviewed Journal]

2020 American Society of Hematology ;Distributed under a Creative Commons Attribution 4.0 International License ;2020 ;ISSN: 0006-4971 ;ISSN: 1528-0020 ;EISSN: 1528-0020 ;DOI: 10.1182/blood.2020006738 ;PMID: 32603431

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12
Animal models of fibrotic lung disease
Animal models of fibrotic lung disease
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Animal models of fibrotic lung disease

American journal of respiratory cell and molecular biology, 2013-08, Vol.49 (2), p.167-179 [Peer Reviewed Journal]

Copyright American Thoracic Society Aug 2013 ;Copyright © 2013 by the American Thoracic Society 2013 ;ISSN: 1044-1549 ;EISSN: 1535-4989 ;DOI: 10.1165/rcmb.2013-0094TR ;PMID: 23526222

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13
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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14
Immune responses to AAV vectors: overcoming barriers to successful gene therapy
Immune responses to AAV vectors: overcoming barriers to successful gene therapy
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Immune responses to AAV vectors: overcoming barriers to successful gene therapy

Blood, 2013-07, Vol.122 (1), p.23-36 [Peer Reviewed Journal]

2013 American Society of Hematology ;2013 by The American Society of Hematology 2013 ;ISSN: 0006-4971 ;EISSN: 1528-0020 ;DOI: 10.1182/blood-2013-01-306647 ;PMID: 23596044

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15
Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH
Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH
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Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH

Proceedings of the National Academy of Sciences - PNAS, 2018-07, Vol.115 (28), p.E6640-E6649 [Peer Reviewed Journal]

Volumes 1–89 and 106–115, copyright as a collective work only; author(s) retains copyright to individual articles ;Copyright National Academy of Sciences Jul 10, 2018 ;2018 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1801612115 ;PMID: 29946028

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16
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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17
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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18
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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19
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia
High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia
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High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

Blood, 2013-01, Vol.121 (5), p.822-829 [Peer Reviewed Journal]

2013 American Society of Hematology ;2013 by The American Society of Hematology 2013 ;ISSN: 0006-4971 ;EISSN: 1528-0020 ;DOI: 10.1182/blood-2012-08-447367 ;PMID: 23223431

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20
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
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Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis

Proceedings of the National Academy of Sciences - PNAS, 2013-03, Vol.110 (12), p.4667-4672 [Peer Reviewed Journal]

copyright © 1993-2008 National Academy of Sciences of the United States of America ;Copyright National Academy of Sciences Mar 19, 2013 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1221400110 ;PMID: 23487782

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