List of works - Lin Li

A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.

scientific article published on 18 July 2016

A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.

scientific article published on 26 May 2017

A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.

scientific article published on 11 November 2016

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing

scientific article published on 06 March 2020

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing

scientific article published on 06 December 2019

A novel mutation in HAUS7 results in severe oligozoospermia in two brothers

scientific article

Analysis of cyclin-dependent kinase inhibitor 1B mutation in Han Chinese women with premature ovarian failure

scientific article published on 27 April 2010

CXCL12 expression in aborted mouse uteri induced by IFN-γ: Potential anti-inflammatory effect involves in endometrial restoration after abortion in mice

scientific article published on 18 March 2019

DNAH6 is a novel candidate gene associated with sperm head anomaly.

scientific article

Detection of Candida species in pregnant Chinese women with a molecular beacon method.

scientific article

Detection of non-criteria autoantibodies in women without apparent causes for pregnancy loss

scientific article published on 11 August 2019

Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China

scientific article published on 10 January 2018

Glycated albumin in pregnancy: reference intervals establishment and its predictive value in adverse pregnancy outcomes

scientific article published on 03 January 2020

In vitro differentiation of human embryonic stem cells into ovarian follicle-like cells

scientific article

Lipidomic profiling of amniotic fluid and its application in fetal lung maturity prediction

scientific article published on 05 December 2019

Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.

scientific article published on 6 July 2009

Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella

scientific article published on 24 March 2020

Novel SNPs of WNK1 and AKR1C3 are associated with preeclampsia.

scientific article

Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencing

scientific article published on 20 January 2020

Role of AKR1C3 in renal injury and glibenclamide is anti-inflammatory in preeclamptic rats

scientific article published on 05 April 2018

Seasonal influence on TORCH infection and analysis of multi-positive samples with indirect immunofluorescence assay

scientific article published on 21 January 2019

Sequence variant in the CDC42BPB gene is potentially associated with Mullerian duct anomalies

scientific article published on 10 February 2020

Subchromosomal anomalies in small for gestational-age fetuses and newborns

scientific article published on 04 July 2019

TSGA10 is a novel candidate gene associated with acephalic spermatozoa.

scientific article

Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria

scientific article published on 24 January 2019

Whole-exome sequencing identified novel mutations in FGA and FGG genes in the patients with decreased fibrinogen

scientific article published on 05 March 2019

Whole‑exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion

scientific article published on 21 June 2018

[Advances in the molecular genetic studies of acephalic spermatozoa syndrome]

scientific article published on 01 September 2019

[Analysis of a pedigree with partial trisomy 9 and partial monosomy 13 derived from a maternal balanced t(9;13) translocation]

scientific article published on 01 April 2019

List of works by Lin Li

A dominant negative mutation at the ATP binding domain of AMHR2 is associated with a defective anti-Müllerian hormone signaling pathway.

A familial study of twins with severe asthenozoospermia identified a homozygous SPAG17 mutation by whole-exome sequencing.

A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency.

A maternal GOT1 novel variant associated with early-onset severe preeclampsia identified by whole-exome sequencing

A novel EIF4ENIF1 mutation associated with a diminished ovarian reserve and premature ovarian insufficiency identified by whole-exome sequencing

A novel mutation in HAUS7 results in severe oligozoospermia in two brothers

Analysis of cyclin-dependent kinase inhibitor 1B mutation in Han Chinese women with premature ovarian failure

CXCL12 expression in aborted mouse uteri induced by IFN-γ: Potential anti-inflammatory effect involves in endometrial restoration after abortion in mice

DNAH6 is a novel candidate gene associated with sperm head anomaly.

Detection of Candida species in pregnant Chinese women with a molecular beacon method.

Detection of non-criteria autoantibodies in women without apparent causes for pregnancy loss

Genetic contribution of SUN5 mutations to acephalic spermatozoa in Fujian China

Glycated albumin in pregnancy: reference intervals establishment and its predictive value in adverse pregnancy outcomes

In vitro differentiation of human embryonic stem cells into ovarian follicle-like cells

Lipidomic profiling of amniotic fluid and its application in fetal lung maturity prediction

Mutational analysis of SAL-Like 4 (SALL4) in Han Chinese women with premature ovarian failure.

Mutational effect of human CFAP43 splice-site variant causing multiple morphological abnormalities of the sperm flagella

Novel SNPs of WNK1 and AKR1C3 are associated with preeclampsia.

Potential digenic inheritance of familial hypertrophic cardiomyopathy identified by whole-exome sequencing

Role of AKR1C3 in renal injury and glibenclamide is anti-inflammatory in preeclamptic rats

Seasonal influence on TORCH infection and analysis of multi-positive samples with indirect immunofluorescence assay

Sequence variant in the CDC42BPB gene is potentially associated with Mullerian duct anomalies

Subchromosomal anomalies in small for gestational-age fetuses and newborns

TSGA10 is a novel candidate gene associated with acephalic spermatozoa.

Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria

Whole-exome sequencing identified novel mutations in FGA and FGG genes in the patients with decreased fibrinogen

Whole‑exome sequencing analysis of products of conception identifies novel mutations associated with missed abortion

[Advances in the molecular genetic studies of acephalic spermatozoa syndrome]

[Analysis of a pedigree with partial trisomy 9 and partial monosomy 13 derived from a maternal balanced t(9;13) translocation]