Heterozygous loss-of-function variants in LHX8 cause female infertility characterized by oocyte maturation arrest

Abnormal PIWI-interacting RNA profile and its association with the deformed extracellular matrix of oocytes from recurrent oocyte maturation arrest patients

(2021) Yi Li et al.   FERTILITY AND STERILITY

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder

(2021) Holger Hengel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency

(2021) I Bestetti et al.   HUMAN REPRODUCTION

Variant interpretation using population databases: Lessons from gnomAD

(2021) Sanna Gudmundsson et al.   HUMAN MUTATION

Bi-allelic Missense Pathogenic Variants in TRIP13Cause Female Infertility Characterized by Oocyte Maturation Arrest

(2020) Zhihua Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous Mutations in BTG4 Cause Zygotic Cleavage Failure and Female Infertility

(2020) Wei Zheng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic mutations in CDC20 cause female infertility characterized by abnormalities in oocyte maturation and early embryonic development

(2020) Lin Zhao et al.   Protein & Cell

Assessing the Role of Rare Genetic Variation in Patients With Heart Failure

(2020) Gundula Povysil et al.   JAMA Cardiology

The EMBL-EBI search and sequence analysis tools APIs in 2019

(2019) Fábio Madeira et al.   NUCLEIC ACIDS RESEARCH

CDD/SPARCLE: the conserved domain database in 2020

(2019) Shennan Lu et al.   NUCLEIC ACIDS RESEARCH

Homozygous Mutations in WEE2 Cause Fertilization Failure and Female Infertility

(2018) Qing Sang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lhx8 ablation leads to massive autophagy of mouse oocytes associated with DNA damage†

(2018) Laura D’Ignazio et al.   BIOLOGY OF REPRODUCTION

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

(2018) Michael H. Guo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mutations in TUBB8 and Human Oocyte Meiotic Arrest

(2016) Ruizhi Feng et al.   NEW ENGLAND JOURNAL OF MEDICINE

Loss-of-Function Mutations in APPL1 in Familial Diabetes Mellitus

(2015) Sabrina Prudente et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lhx8 regulates primordial follicle activation and postnatal folliculogenesis

(2015) Yu Ren et al.   BMC BIOLOGY

Infertility around the globe: new thinking on gender, reproductive technologies and global movements in the 21st century

(2015) M. C. Inhorn et al.   HUMAN REPRODUCTION UPDATE

Identification and Analysis of Regulatory Elements in Porcine Bone Morphogenetic Protein 15 Gene Promoter

(2015) Qianhui Wan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Mutant ZP1 in Familial Infertility

(2014) Hua-Lin Huang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Oocyte formation by mitotically active germ cells purified from ovaries of reproductive-age women

(2012) Yvonne A R White et al.   NATURE MEDICINE

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Systematic identification of cell cycle-dependent yeast nucleocytoplasmic shuttling proteins by prediction of composite motifs

(2009) S. Kosugi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lim Homeobox Gene, Lhx8, Is Essential for Mouse Oocyte Differentiation and Survival1

(2008) Youngsok Choi et al.   BIOLOGY OF REPRODUCTION