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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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Model-assisted calibration with SCAD to estimated control for non-probability samples

Statistical methods & applications, 2022-10, Vol.31 (4), p.849-879

2022

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Genome-Wide Analysis of 18 Epstein-Barr Viruses Isolated from Primary Nasopharyngeal Carcinoma Biopsy Specimens

Journal of virology, 2017-09, Vol.91 (17)

2017

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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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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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The miR-183/96/182 cluster regulates oxidative apoptosis and sensitizes cells to chemotherapy in gliomas

Current cancer drug targets, 2013-02, Vol.13 (2), p.221

2013

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Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

Frontiers of medicine, 2023-10, Vol.17 (5), p.957-971

2023

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Genome-wide Analysis of Epstein-Barr Virus (EBV) Integration and Strain in C666-1 and Raji Cells

Journal of Cancer, 2016, Vol.7 (2), p.214-224

2016

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Novel homozygous variants in TTC12 cause male infertility with asthenoteratozoospermia owing to dynein arm complex and mitochondrial sheath defects in flagella

Frontiers in cell and developmental biology, 2023-06, Vol.11, p.1184331-1184331

2023

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Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression

Cell discovery, 2023-08, Vol.9 (1), p.87-87, Article 87

2023

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Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00709-n/a

2019

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Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

Molecular cytogenetics, 2018-02, Vol.11 (1), p.15-8, Article 15

2018

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Genetic underpinnings of asthenozoospermia

Best Practice & Research Clinical Endocrinology & Metabolism, 2020-12, Vol.34 (6), p.101472-101472, Article 101472

2020

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Identification of genomic alterations in nasopharyngeal carcinoma and nasopharyngeal carcinoma-derived Epstein-Barr virus by whole-genome sequencing

Carcinogenesis (New York), 2018-12, Vol.39 (12), p.1517-1528

2018

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Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia

Human reproduction update, 2022-11, Vol.28 (6), p.763-797

2022

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Estimation for volunteer web survey samples using a model-averaging approach

Journal of applied statistics, 2023, Vol.50 (16), p.3251-3271

2023

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Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development

Human molecular genetics, 2021-12, Vol.31 (2), p.219-231

2021

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Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice

American journal of human genetics, 2021-08, Vol.108 (8), p.1466-1477

2021

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C9orf131 and C10orf120 are not essential for male fertility in humans or mice

Developmental biology, 2023-05, Vol.497, p.11-17

2023

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Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility

American journal of human genetics, 2021-02, Vol.108 (2), p.309-323

2021

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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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CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis

Human molecular genetics, 2021-11, Vol.30 (23), p.2240-2254

2021

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TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation

Autophagy, 2021-11, Vol.17 (11), p.3848-3864

2021

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Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia

Human reproduction (Oxford), 2023-07, Vol.38 (7), p.1399-1411

2023

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A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia

Fertility and sterility, 2020-03, Vol.113 (3), p.561-568

2020

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

Model-assisted calibration with SCAD to estimated control for non-probability samples

Genome-Wide Analysis of 18 Epstein-Barr Viruses Isolated from Primary Nasopharyngeal Carcinoma Biopsy Specimens

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

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

The miR-183/96/182 cluster regulates oxidative apoptosis and sensitizes cells to chemotherapy in gliomas

Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

Genome-wide Analysis of Epstein-Barr Virus (EBV) Integration and Strain in C666-1 and Raji Cells

Novel homozygous variants in TTC12 cause male infertility with asthenoteratozoospermia owing to dynein arm complex and mitochondrial sheath defects in flagella

Loss-of-function variants in human C12orf40 cause male infertility by blocking meiotic progression

Telomerase insufficiency induced telomere erosion accumulation in successive generations in dyskeratosis congenita family

Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature

Genetic underpinnings of asthenozoospermia

Identification of genomic alterations in nasopharyngeal carcinoma and nasopharyngeal carcinoma-derived Epstein-Barr virus by whole-genome sequencing

Meiotic recombination: insights into its mechanisms and its role in human reproduction with a special focus on non-obstructive azoospermia

Estimation for volunteer web survey samples using a model-averaging approach

Loss-of-function missense variant of AKAP4 induced male infertility through reduced interaction with QRICH2 during sperm flagella development

Bi-allelic mutations of DNAH10 cause primary male infertility with asthenoteratozoospermia in humans and mice

C9orf131 and C10orf120 are not essential for male fertility in humans or mice

Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility

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

CFAP65 is required in the acrosome biogenesis and mitochondrial sheath assembly during spermiogenesis

TDRD7 participates in lens development and spermiogenesis by mediating autophagosome maturation

Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia

A homozygous RPL10L missense mutation associated with male factor infertility and severe oligozoospermia

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