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Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans

Genetics in medicine, 2019-05, Vol.21 (5), p.1209-1217

2019

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Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new?

Asian journal of andrology, 2020-05, Vol.22 (3), p.236-245

2020

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Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD

Human genetics, 2020-02, Vol.139 (2), p.257-271

2020

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Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella

Scientific reports, 2019-11, Vol.9 (1), p.15864-10, Article 15864

2019

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Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype

Clinical genetics, 2023-04, Vol.103 (4), p.495-497

2023

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A hemizygous loss‐of‐function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia

Clinical genetics, 2024-07, Vol.106 (1), p.27-36

2024

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An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family

Clinical genetics, 2020-05, Vol.97 (5), p.741-746

2020

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Non-invasive preimplantation genetic testing for conventional IVF blastocysts

Journal of translational medicine, 2022-09, Vol.20 (1), p.1-396, Article 396

2022

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XRCC2 mutation causes premature ovarian insufficiency as well as non‐obstructive azoospermia in humans

Clinical genetics, 2019-03, Vol.95 (3), p.442-443

2019

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A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility

Asian journal of andrology, 2023-09, Vol.25 (5), p.643-645

2023

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RNF216 regulates meiosis and PKA stability in the testes

The FASEB journal, 2021-04, Vol.35 (4), p.e21460-n/a

2021

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Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans

Asian journal of andrology, 2022-07, Vol.24 (4), p.359-366

2022

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Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer

Journal of Cancer, 2019, Vol.10 (3), p.643-653

2019

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Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia

Human genetics, 2021-05, Vol.140 (5), p.761-773

2021

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Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility

Human mutation, 2021-01, Vol.42 (1), p.31-36

2021

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Inner cell mass incarceration in 8-shaped blastocysts does not increase monozygotic twinning in preimplantation genetic diagnosis and screening patients

PloS one, 2018-01, Vol.13 (1), p.e0190776-e0190776

2018

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TGFβ1-Smad Signaling Pathway Participates in Interleukin-33 Induced Epithelial-to-Mesenchymal Transition of A549 Cells

Cellular physiology and biochemistry, 2018-10, Vol.50 (2), p.757-767

2018

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Risk Factors Affecting Alternate Segregation in Blastocysts From Preimplantation Genetic Testing Cycles of Autosomal Reciprocal Translocations

Frontiers in genetics, 2022-06, Vol.13, p.880208-880208

2022

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Novel loss‐of‐function mutation in MCM8 causes premature ovarian insufficiency

Molecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1165-n/a

2020

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A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans

Asian journal of andrology, 2021-03, Vol.23 (2), p.197-204

2021

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Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis

Asian journal of andrology, 2023-01, Vol.25 (1), p.58-65

2023

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Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia

Journal of assisted reproduction and genetics, 2020-04, Vol.37 (4), p.811-820

2020

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Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies

Molecular cytogenetics, 2020-05, Vol.13 (1), p.15-6, Article 15

2020

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A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

Journal of human genetics, 2019-03, Vol.64 (3), p.207-214

2019

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Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia

Frontiers in genetics, 2022-08, Vol.13, p.936264-936264

2022

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Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans

Insight on multiple morphological abnormalities of sperm flagella in male infertility: what is new?

Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD

Identification of DNAH6 mutations in infertile men with multiple morphological abnormalities of the sperm flagella

Novel homozygous variant of CCIN causes male infertility owing to the abnormal sperm head with a nuclear subsidence phenotype

A hemizygous loss‐of‐function variant in BCORL1 is associated with male infertility and oligoasthenoteratozoospermia

An M1AP homozygous splice‐site mutation associated with severe oligozoospermia in a consanguineous family

Non-invasive preimplantation genetic testing for conventional IVF blastocysts

XRCC2 mutation causes premature ovarian insufficiency as well as non‐obstructive azoospermia in humans

A novel loss-of-function variant in PNLDC1 inducing oligo-astheno-teratozoospermia and male infertility

RNF216 regulates meiosis and PKA stability in the testes

Sperm flagellar 2 (SPEF2) is essential for sperm flagellar assembly in humans

Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer

Bi-allelic BRWD1 variants cause male infertility with asthenoteratozoospermia and likely primary ciliary dyskinesia

Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility

Inner cell mass incarceration in 8-shaped blastocysts does not increase monozygotic twinning in preimplantation genetic diagnosis and screening patients

TGFβ1-Smad Signaling Pathway Participates in Interleukin-33 Induced Epithelial-to-Mesenchymal Transition of A549 Cells

Risk Factors Affecting Alternate Segregation in Blastocysts From Preimplantation Genetic Testing Cycles of Autosomal Reciprocal Translocations

Novel loss‐of‐function mutation in MCM8 causes premature ovarian insufficiency

A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans

Loss-of-function CFTR p.G970D missense mutation might cause congenital bilateral absence of the vas deferens and be associated with impaired spermatogenesis

Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia

Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies

A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation

Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia

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