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1
Recessive gene disruptions in autism spectrum disorder
Recessive gene disruptions in autism spectrum disorder
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Recessive gene disruptions in autism spectrum disorder

Nature genetics, 2019-07, Vol.51 (7), p.1092-1098 [Peer Reviewed Journal]

Copyright Nature Publishing Group Jul 2019 ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-019-0433-8 ;PMID: 31209396

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2
Ciliopathies
Ciliopathies
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Ciliopathies

Cold Spring Harbor perspectives in biology, 2017-03, Vol.9 (3), p.a028191 [Peer Reviewed Journal]

Copyright © 2017 Cold Spring Harbor Laboratory Press; all rights reserved. ;2017 ;ISSN: 1943-0264 ;EISSN: 1943-0264 ;DOI: 10.1101/cshperspect.a028191 ;PMID: 27793968

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3
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome
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Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

American journal of human genetics, 2016-05, Vol.98 (5), p.971-980 [Peer Reviewed Journal]

2016 The American Society of Human Genetics ;Copyright © 2016 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press May 5, 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;2016 by The American Society of Human Genetics. All rights reserved. 2016 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.03.004 ;PMID: 27108797

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4
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

Nature genetics, 2016-09, Vol.48 (9), p.1071-1076 [Peer Reviewed Journal]

COPYRIGHT 2016 Nature Publishing Group ;COPYRIGHT 2016 Nature Publishing Group ;Copyright Nature Publishing Group Sep 2016 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/ng.3592 ;PMID: 27428751

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5
The genetics of inbreeding depression
The genetics of inbreeding depression
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The genetics of inbreeding depression

Nature reviews. Genetics, 2009-11, Vol.10 (11), p.783-796 [Peer Reviewed Journal]

2015 INIST-CNRS ;COPYRIGHT 2009 Nature Publishing Group ;Copyright Nature Publishing Group Nov 2009 ;ISSN: 1471-0056 ;EISSN: 1471-0064 ;DOI: 10.1038/nrg2664 ;PMID: 19834483

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6
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
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Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

American journal of human genetics, 2017-01, Vol.100 (1), p.75-90 [Peer Reviewed Journal]

2017 ;Copyright © 2017. Published by Elsevier Inc. ;Copyright Cell Press Jan 5, 2017 ;2017. 2017 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.12.003 ;PMID: 28041643

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7
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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8
The Genetic Cost of Neanderthal Introgression
The Genetic Cost of Neanderthal Introgression
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The Genetic Cost of Neanderthal Introgression

Genetics (Austin), 2016-06, Vol.203 (2), p.881-891 [Peer Reviewed Journal]

Copyright © 2016 by the Genetics Society of America. ;Copyright Genetics Society of America Jun 2016 ;Copyright © 2016 by the Genetics Society of America 2016 ;ISSN: 1943-2631 ;ISSN: 0016-6731 ;EISSN: 1943-2631 ;DOI: 10.1534/genetics.116.186890 ;PMID: 27038113 ;CODEN: GENTAE

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9
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
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Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

The New England journal of medicine, 2013-10, Vol.369 (16), p.1502-1511 [Peer Reviewed Journal]

Copyright © 2013 Massachusetts Medical Society. All rights reserved. ;2014 INIST-CNRS ;Copyright © 2013 Massachusetts Medical Society. 2013 ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1306555 ;PMID: 24088041 ;CODEN: NEJMAG

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10
Developmental origin, functional maintenance and genetic rescue of osteoclasts
Developmental origin, functional maintenance and genetic rescue of osteoclasts
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Developmental origin, functional maintenance and genetic rescue of osteoclasts

Nature (London), 2019-04, Vol.568 (7753), p.541-545 [Peer Reviewed Journal]

COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Apr 25, 2019 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/s41586-019-1105-7 ;PMID: 30971820

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11
Global genetic analysis in mice unveils central role for cilia in congenital heart disease
Global genetic analysis in mice unveils central role for cilia in congenital heart disease
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Global genetic analysis in mice unveils central role for cilia in congenital heart disease

Nature (London), 2015-05, Vol.521 (7553), p.520-524 [Peer Reviewed Journal]

COPYRIGHT 2015 Nature Publishing Group ;COPYRIGHT 2015 Nature Publishing Group ;Copyright Nature Publishing Group May 28, 2015 ;ISSN: 0028-0836 ;EISSN: 1476-4687 ;DOI: 10.1038/nature14269 ;PMID: 25807483 ;CODEN: NATUAS

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12
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
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Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa

Journal of medical genetics, 2021-08, Vol.58 (8), p.570-578 [Peer Reviewed Journal]

Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;2021 Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0022-2593 ;EISSN: 1468-6244 ;DOI: 10.1136/jmedgenet-2020-107150 ;PMID: 32817297

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13
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia
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Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

Nature communications, 2015-09, Vol.6 (1), p.8329-8329, Article 8329 [Peer Reviewed Journal]

Copyright Nature Publishing Group Sep 2015 ;Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. ;ISSN: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/ncomms9329 ;PMID: 26387913

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14
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
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Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

The New England journal of medicine, 2012-11, Vol.367 (20), p.1921-1929 [Peer Reviewed Journal]

Copyright © 2012 Massachusetts Medical Society. All rights reserved. ;2015 INIST-CNRS ;ISSN: 0028-4793 ;EISSN: 1533-4406 ;DOI: 10.1056/NEJMoa1206524 ;PMID: 23033978 ;CODEN: NEJMAG

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15
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea
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Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea

American journal of human genetics, 2016-09, Vol.99 (3), p.753-761 [Peer Reviewed Journal]

2016 American Society of Human Genetics ;Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Sep 1, 2016 ;Distributed under a Creative Commons Attribution 4.0 International License ;2016 American Society of Human Genetics. 2016 American Society of Human Genetics ;ISSN: 0002-9297 ;ISSN: 1537-6605 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.06.033 ;PMID: 27569547

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16
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease
Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease
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Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

Human molecular genetics, 2017-10, Vol.26 (R2), p.R114-R127 [Peer Reviewed Journal]

The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;The Author 2017. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2017 ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/ddx231 ;PMID: 28633377

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17
Genetics of intellectual disability in consanguineous families
Genetics of intellectual disability in consanguineous families
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Genetics of intellectual disability in consanguineous families

Molecular psychiatry, 2019-07, Vol.24 (7), p.1027-1039 [Peer Reviewed Journal]

COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group Jul 2019 ;ISSN: 1359-4184 ;EISSN: 1476-5578 ;DOI: 10.1038/s41380-017-0012-2 ;PMID: 29302074

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18
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia
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Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia

Journal of the American Society of Nephrology, 2016-02, Vol.27 (2), p.604-614 [Peer Reviewed Journal]

Copyright © 2016 by the American Society of Nephrology. ;Copyright © 2016 by the American Society of Nephrology 2016 ;ISSN: 1046-6673 ;EISSN: 1533-3450 ;DOI: 10.1681/asn.2014101025 ;PMID: 26047794

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19
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis
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Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis

American journal of human genetics, 2016-08, Vol.99 (2), p.337-351 [Peer Reviewed Journal]

2016 American Society of Human Genetics ;Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Aug 4, 2016 ;2016 American Society of Human Genetics. 2016 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.06.015 ;PMID: 27476653

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20
Measuring intolerance to mutation in human genetics
Measuring intolerance to mutation in human genetics
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Measuring intolerance to mutation in human genetics

Nature genetics, 2019-05, Vol.51 (5), p.772-776 [Peer Reviewed Journal]

COPYRIGHT 2019 Nature Publishing Group ;COPYRIGHT 2019 Nature Publishing Group ;Copyright Nature Publishing Group May 2019 ;ISSN: 1061-4036 ;EISSN: 1546-1718 ;DOI: 10.1038/s41588-019-0383-1 ;PMID: 30962618

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