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1
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia
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Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia

American journal of human genetics, 2019-07, Vol.105 (1), p.198-212 [Peer Reviewed Journal]

2019 American Society of Human Genetics ;Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Attribution - NonCommercial ;2019 American Society of Human Genetics. 2019 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2019.04.015 ;PMID: 31178125

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2
Chromodomain Protein CDYL Acts as a Crotonyl-CoA Hydratase to Regulate Histone Crotonylation and Spermatogenesis
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Chromodomain Protein CDYL Acts as a Crotonyl-CoA Hydratase to Regulate Histone Crotonylation and Spermatogenesis

Molecular cell, 2017-09, Vol.67 (5), p.853-866.e5 [Peer Reviewed Journal]

2017 Elsevier Inc. ;Copyright © 2017 Elsevier Inc. All rights reserved. ;ISSN: 1097-2765 ;EISSN: 1097-4164 ;DOI: 10.1016/j.molcel.2017.07.011 ;PMID: 28803779

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3
The Genomic Landscape of Endocrine-Resistant Advanced Breast Cancers
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The Genomic Landscape of Endocrine-Resistant Advanced Breast Cancers

Cancer cell, 2018-09, Vol.34 (3), p.427-438.e6 [Peer Reviewed Journal]

2018 Elsevier Inc. ;Copyright © 2018 Elsevier Inc. All rights reserved. ;ISSN: 1535-6108 ;EISSN: 1878-3686 ;DOI: 10.1016/j.ccell.2018.08.008 ;PMID: 30205045

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4
SLC22A14 is a mitochondrial riboflavin transporter required for sperm oxidative phosphorylation and male fertility
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SLC22A14 is a mitochondrial riboflavin transporter required for sperm oxidative phosphorylation and male fertility

Cell reports (Cambridge), 2021-04, Vol.35 (3), p.109025-109025, Article 109025 [Peer Reviewed Journal]

2021 The Author(s) ;Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved. ;2021 The Author(s) 2021 ;ISSN: 2211-1247 ;EISSN: 2211-1247 ;DOI: 10.1016/j.celrep.2021.109025 ;PMID: 33882315

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5
Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella
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Mutations in DNAH1, which Encodes an Inner Arm Heavy Chain Dynein, Lead to Male Infertility from Multiple Morphological Abnormalities of the Sperm Flagella

American journal of human genetics, 2014-01, Vol.94 (1), p.95-104 [Peer Reviewed Journal]

2014 The American Society of Human Genetics ;Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Jan 2, 2014 ;Distributed under a Creative Commons Attribution 4.0 International License ;2014 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2014 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.11.017 ;PMID: 24360805

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6
Dissecting mammalian spermatogenesis using spatial transcriptomics
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Dissecting mammalian spermatogenesis using spatial transcriptomics

Cell reports (Cambridge), 2021-11, Vol.37 (5), p.109915-109915, Article 109915 [Peer Reviewed Journal]

2021 The Author(s) ;Copyright © 2021 The Author(s). Published by Elsevier Inc. All rights reserved. ;ISSN: 2211-1247 ;EISSN: 2211-1247 ;DOI: 10.1016/j.celrep.2021.109915 ;PMID: 34731600

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7
Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice
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Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice

American journal of human genetics, 2019-04, Vol.104 (4), p.738-748 [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.2019.02.020 ;PMID: 30929735

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8
Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility
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Mutations in TTC29, Encoding an Evolutionarily Conserved Axonemal Protein, Result in Asthenozoospermia and Male Infertility

American journal of human genetics, 2019-12, Vol.105 (6), p.1148-1167 [Peer Reviewed Journal]

2019 American Society of Human Genetics ;Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Attribution - NonCommercial ;2019 American Society of Human Genetics. 2019 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2019.10.007 ;PMID: 31735292

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9
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice
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Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice

American journal of human genetics, 2019-02, Vol.104 (2), p.331-340 [Peer Reviewed Journal]

2019 American Society of Human Genetics ;Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;2019 American Society of Human Genetics. 2019 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2018.12.013 ;PMID: 30686508

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10
Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia
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Mutations in ZMYND10, a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms in Humans and Flies, Cause Primary Ciliary Dyskinesia

American journal of human genetics, 2013-08, Vol.93 (2), p.346-356 [Peer Reviewed Journal]

2013 The American Society of Human Genetics ;Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Copyright Cell Press Aug 8, 2013 ;2013 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2013 The American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2013.07.009 ;PMID: 23891471

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11
Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome
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Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome

American journal of human genetics, 2018-08, Vol.103 (2), p.188-199 [Peer Reviewed Journal]

2018 American Society of Human Genetics ;Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;2018 American Society of Human Genetics. 2018 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2018.06.010 ;PMID: 30032984

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12
Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice
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Bi-allelic Loss-of-function Variants in CFAP58 Cause Flagellar Axoneme and Mitochondrial Sheath Defects and Asthenoteratozoospermia in Humans and Mice

American journal of human genetics, 2020-09, Vol.107 (3), p.514-526 [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.2020.07.010 ;PMID: 32791035

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13
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility
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Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility

American journal of human genetics, 2016-08, Vol.99 (2), p.489-500 [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 ;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 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2016.06.022 ;PMID: 27486783

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14
A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility
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A Homozygous Ancestral SVA-Insertion-Mediated Deletion in WDR66 Induces Multiple Morphological Abnormalities of the Sperm Flagellum and Male Infertility

American journal of human genetics, 2018-09, Vol.103 (3), p.400-412 [Peer Reviewed Journal]

2018 American Society of Human Genetics ;Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;2018 American Society of Human Genetics. 2018 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2018.07.014 ;PMID: 30122540

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15
Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men
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Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men

American journal of human genetics, 2018-09, Vol.103 (3), p.413-420 [Peer Reviewed Journal]

2018 American Society of Human Genetics ;Copyright © 2018 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;2018 American Society of Human Genetics. 2018 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2018.07.013 ;PMID: 30122541

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16
Living in the endosymbiotic world of Wolbachia: A centennial review
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Living in the endosymbiotic world of Wolbachia: A centennial review

Cell host & microbe, 2021-06, Vol.29 (6), p.879-893 [Peer Reviewed Journal]

2021 Elsevier Inc. ;Copyright © 2021 Elsevier Inc. All rights reserved. ;ISSN: 1931-3128 ;EISSN: 1934-6069 ;DOI: 10.1016/j.chom.2021.03.006 ;PMID: 33945798

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17
TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella
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TTC12 Loss-of-Function Mutations Cause Primary Ciliary Dyskinesia and Unveil Distinct Dynein Assembly Mechanisms in Motile Cilia Versus Flagella

American journal of human genetics, 2020-02, Vol.106 (2), p.153-169 [Peer Reviewed Journal]

2019 American Society of Human Genetics ;Copyright © 2019 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Attribution - NonCommercial ;2019 American Society of Human Genetics. 2019 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2019.12.010 ;PMID: 31978331

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18
Germ-Cell-Specific Inflammasome Component NLRP14 Negatively Regulates Cytosolic Nucleic Acid Sensing to Promote Fertilization
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Germ-Cell-Specific Inflammasome Component NLRP14 Negatively Regulates Cytosolic Nucleic Acid Sensing to Promote Fertilization

Immunity (Cambridge, Mass.), 2017-04, Vol.46 (4), p.621-634 [Peer Reviewed Journal]

2017 Elsevier Inc. ;Copyright © 2017 Elsevier Inc. All rights reserved. ;Copyright Elsevier Limited Apr 18, 2017 ;ISSN: 1074-7613 ;EISSN: 1097-4180 ;DOI: 10.1016/j.immuni.2017.03.020 ;PMID: 28423339

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19
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility
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Article
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Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility

American journal of human genetics, 2020-08, Vol.107 (2), p.330-341 [Peer Reviewed Journal]

2020 American Society of Human Genetics ;Copyright © 2020 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. ;Distributed under a Creative Commons Attribution 4.0 International License ;2020 American Society of Human Genetics. 2020 American Society of Human Genetics ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1016/j.ajhg.2020.06.004 ;PMID: 32619401

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20
The Mammalian Spermatogenesis Single-Cell Transcriptome, from Spermatogonial Stem Cells to Spermatids
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The Mammalian Spermatogenesis Single-Cell Transcriptome, from Spermatogonial Stem Cells to Spermatids

Cell reports (Cambridge), 2018-11, Vol.25 (6), p.1650-1667.e8 [Peer Reviewed Journal]

2018 The Author(s) ;Copyright © 2018 The Author(s). Published by Elsevier Inc. All rights reserved. ;ISSN: 2211-1247 ;EISSN: 2211-1247 ;DOI: 10.1016/j.celrep.2018.10.026 ;PMID: 30404016

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