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Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

Journal of medical genetics, 2019-11, Vol.56 (11), p.750-757

2019

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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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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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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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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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Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA

Journal of medical genetics, 2023-08, Vol.60 (8), p.827-834

2023

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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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Homozygous variants in SYCP2L cause premature ovarian insufficiency

Journal of medical genetics, 2021-03, Vol.58 (3), p.168-172

2021

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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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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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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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RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders

Journal of medical genetics, 2022-10, Vol.59 (10), p.1010-1016

2022

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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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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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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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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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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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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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Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

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

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

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

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

Biallelic mutations in CFAP54 cause male infertility with severe MMAF and NOA

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

Homozygous variants in SYCP2L cause premature ovarian insufficiency

RNF216 regulates meiosis and PKA stability in the testes

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

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

Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer

RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders

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

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

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

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

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

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

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