相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Targeted sequencing analysis of ACVR2A gene identifies novel risk variants associated with preeclampsia
Andrey S. Glotov et al.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (2019)
ATG7 and ATG9A loss-of-function variants trigger autophagy impairment and ovarian failure
Clemente Delcour et al.
GENETICS IN MEDICINE (2019)
Genomic Analysis in the Age of Human Genome Sequencing
Tuuli Lappalainen et al.
CELL (2019)
Genetic Variants Contributing to Early Recurrent Pregnancy Loss Etiology Identified by Sequencing Approaches
Paula Quintero-Ronderos et al.
Reproductive Sciences (2019)
Genetic and epigenetic characteristics in ovarian tissues from polycystic ovary syndrome patients with irregular menstruation resemble those of ovarian cancer
Jiao Jiao et al.
BMC ENDOCRINE DISORDERS (2019)
Hypertensive Disorders of Pregnancy
Silvi Shah et al.
CARDIOLOGY CLINICS (2019)
The Role of Epigenetics in Placental Development and the Etiology of Preeclampsia
Clara Apicella et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
RNA sequencing: the teenage years
Rory Stark et al.
NATURE REVIEWS GENETICS (2019)
Pre-eclampsia: pathophysiology and clinical implications
Graham J. Burton et al.
BMJ-BRITISH MEDICAL JOURNAL (2019)
FOXD1 mutations are related to repeated implantation failure, intra-uterine growth restriction and preeclampsia
Paula Quintero-Ronderos et al.
MOLECULAR MEDICINE (2019)
Long-term cardiovascular disorders in the STOX1 mouse model of preeclampsia
Francisco Miralles et al.
SCIENTIFIC REPORTS (2019)
Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology
Liliana C. Patino et al.
HUMAN MUTATION (2019)
Whole-exome sequencing in multiplex preeclampsia families identifies novel candidate susceptibility genes
Phillip E. Melton et al.
JOURNAL OF HYPERTENSION (2019)
Hypertensive complications of pregnancy: A clinical overview
C. Antza et al.
METABOLISM-CLINICAL AND EXPERIMENTAL (2018)
Animal models of preeclampsia: translational failings and why
Sarah A. Marshall et al.
AMERICAN JOURNAL OF PHYSIOLOGY-REGULATORY INTEGRATIVE AND COMPARATIVE PHYSIOLOGY (2018)
Cardiomyopathy and Preeclampsia: Shared Genetics?
Hilary S. Gammill et al.
CIRCULATION (2018)
A novel mutation in KHDRBS1 in a patient affected by primary ovarian insufficiency
Carolina Carlosama et al.
CLINICAL ENDOCRINOLOGY (2018)
NGS Technologies as a Turning Point in Rare Disease Resea rch, Diagnosis and Treatment
Ana Fernandez-Marmiesse et al.
CURRENT MEDICINAL CHEMISTRY (2018)
Current model systems for the study of preeclampsia
M. L. Martinez-Fierro et al.
EXPERIMENTAL BIOLOGY AND MEDICINE (2018)
Measuring coverage and accuracy of whole-exome sequencing in clinical context
Sek Won Kong et al.
GENETICS IN MEDICINE (2018)
Genomic imprinting, growth and maternal-fetal interactions
Fearon C. Cassidy et al.
JOURNAL OF EXPERIMENTAL BIOLOGY (2018)
Preeclampsia induced by STOX1 overexpression in mice induces intrauterine growth restriction, abnormal ultrasonography and BOLD MRI signatures
Helene Collinot et al.
JOURNAL OF HYPERTENSION (2018)
Assessing the Accuracy of Variant Detection in Cost-Effective Gene Panel Testing by Next-Generation Sequencing
Ryoji Fujiki et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2018)
The multisystemic functions of FOXD1 in development and disease
Paula Quintero-Ronderos et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2018)
NLRP genes and their role in preeclampsia and multi-locus imprinting disorders
Lukas Soellner et al.
JOURNAL OF PERINATAL MEDICINE (2018)
The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing
Paul Laissue
MOLECULAR AND CELLULAR ENDOCRINOLOGY (2018)
The genetic component of preeclampsia: A whole-exome sequencing study
Anette Tarp Hansen et al.
PLOS ONE (2018)
Decidual ACVR2A regulates extravillous trophoblast functions of adhesion, proliferation, migration and invasion in vitro
Hannah E. J. Yong et al.
PREGNANCY HYPERTENSION-AN INTERNATIONAL JOURNAL OF WOMENS CARDIOVASCULAR HEALTH (2018)
A review of somatic single nucleotide variant calling algorithms for next-generation sequencing data
Chang Xu
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL (2018)
Single-cell RNA-seq reveals the diversity of trophoblast subtypes and patterns of differentiation in the human placenta
Yawei Liu et al.
CELL RESEARCH (2018)
Candidate Gene, Genome-Wide Association and Bioinformatic Studies in Pre-eclampsia: a Review
Semone Thakoordeen et al.
CURRENT HYPERTENSION REPORTS (2018)
Single-cell reconstruction of the early maternal-fetal interface in humans
Roser Vento-Tormo et al.
NATURE (2018)
A single-cell survey of the human first-trimester placenta and decidua
Hemant Suryawanshi et al.
SCIENCE ADVANCES (2018)
RNA-Seq methods for transcriptome analysis
Radmila Hrdlickova et al.
WILEY INTERDISCIPLINARY REVIEWS-RNA (2017)
Single-cell transcriptomics of the human placenta: inferring the cell communication network of the maternal-fetal interface
Mihaela Pavlicev et al.
GENOME RESEARCH (2017)
New mutations in non-syndromic primary ovarian insufficiency patients identified via whole-exome sequencing
Liliana Catherine Patino et al.
HUMAN REPRODUCTION (2017)
Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification
Rick Kamps et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2017)
Scaling single-cell genomics from phenomenology to mechanism
Amos Tanay et al.
NATURE (2017)
Cancer-Associated Mutations in Endometriosis without Cancer
M. S. Anglesio et al.
NEW ENGLAND JOURNAL OF MEDICINE (2017)
Early screening and prevention of preterm pre-eclampsia with aspirin: time for clinical implementation
D. L. Rolnik et al.
ULTRASOUND IN OBSTETRICS & GYNECOLOGY (2017)
A practical guide to single-cell RNA-sequencing for biomedical research and clinical applications
Ashraful Haque et al.
GENOME MEDICINE (2017)
Novel genes and mutations in patients affected by recurrent pregnancy loss
Paula Quintero-Ronderos et al.
PLOS ONE (2017)
RNA-Seq differential expression analysis: An extended review and a software tool
Juliana Costa-Silva et al.
PLOS ONE (2017)
On the design and prospects of direct RNA sequencing
Georgi K. Marinov
BRIEFINGS IN FUNCTIONAL GENOMICS (2017)
Evaluation of whole exome sequencing by targeted gene sequencing and Sanger sequencing
Ya-Sian Chang et al.
CLINICA CHIMICA ACTA (2017)
The impact of rare and low-frequency genetic variants in common disease
Lorenzo Bomba et al.
GENOME BIOLOGY (2017)
Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views
Gabrielle Bertier et al.
BMC MEDICAL GENOMICS (2016)
Targeting STOX1 in the therapy of preeclampsia
Daniel Vaiman et al.
EXPERT OPINION ON THERAPEUTIC TARGETS (2016)
Maternal and fetal human leukocyte antigen class Ia and II alleles in severe preeclampsia and eclampsia
J. Emmery et al.
GENES AND IMMUNITY (2016)
A Clinician's perspective on clinical exome sequencing
Anne H. O'Donnell-Luria et al.
HUMAN GENETICS (2016)
Coming of age: ten years of next-generation sequencing technologies
Sara Goodwin et al.
NATURE REVIEWS GENETICS (2016)
Endothelial cell dysfunction and cardiac hypertrophy in the STOX1 model of preeclampsia
Aurelien Ducat et al.
SCIENTIFIC REPORTS (2016)
Investigation of rare and low-frequency variants using high-throughput sequencing with pooled DNA samples
Jingwen Wang et al.
SCIENTIFIC REPORTS (2016)
Medical implications of technical accuracy in genome sequencing
Rachel L. Goldfeder et al.
GENOME MEDICINE (2016)
Association of FOXD1 variants with adverse pregnancy outcomes in mice and humans
Paul Laissue et al.
OPEN BIOLOGY (2016)
Exome sequencing in pooled DNA samples to identify maternal pre-eclampsia risk variants
Tea Kaartokallio et al.
SCIENTIFIC REPORTS (2016)
Next Generation Sequencing of Pooled Samples: Guideline for Variants' Filtering
Santosh Anand et al.
SCIENTIFIC REPORTS (2016)
A survey of best practices for RNA-seq data analysis
Ana Conesa et al.
GENOME BIOLOGY (2016)
Genomic imprinting in the human placenta
David Monk
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY (2015)
Promising prognostic markers of Preeclampsia: New avenues in waiting
Anshul Jadli et al.
THROMBOSIS RESEARCH (2015)
Clinical application of next-generation sequencing for Mendelian diseases
Saumya Shekhar Jamuar et al.
HUMAN GENOMICS (2015)
Nitroso-Redox Balance and Mitochondrial Homeostasis Are Regulated by STOX1, a Pre-Eclampsia-Associated Gene
Ludivine Doridot et al.
ANTIOXIDANTS & REDOX SIGNALING (2014)
A survey of tools for variant analysis of next-generation genome sequencing data
Stephan Pabinger et al.
BRIEFINGS IN BIOINFORMATICS (2014)
Three-stage quality control strategies for DNA re-sequencing data
Yan Guo et al.
BRIEFINGS IN BIOINFORMATICS (2014)
Prediction of Preeclampsia-Bench to Bedside
Anjali Acharya et al.
CURRENT HYPERTENSION REPORTS (2014)
Predictive biomarkers of pre-eclampsia and effectiveness of preventative interventions for the disease
Annalisa Inversetti et al.
EXPERT OPINION ON BIOLOGICAL THERAPY (2014)
Whole-exome sequencing of endometriosis identifies frequent alterations in genes involved in cell adhesion and chromatin-remodeling complexes
Xiaolei Li et al.
HUMAN MOLECULAR GENETICS (2014)
Sequencing depth and coverage: key considerations in genomic analyses
David Sims et al.
NATURE REVIEWS GENETICS (2014)
Pre-eclampsia part 1: current understanding of its pathophysiology
Tinnakorn Chaiworapongsa et al.
NATURE REVIEWS NEPHROLOGY (2014)
HLA class lb molecules and immune cells in pregnancy and preeclampsia
Snezana Djurisic et al.
FRONTIERS IN IMMUNOLOGY (2014)
Genome-Wide Association Study of Pre-Eclampsia Detects Novel Maternal Single Nucleotide Polymorphisms and Copy-Number Variants in Subsets of the Hyperglycemia and Adverse Pregnancy Outcome (HAPO) Study Cohort
Linlu Zhao et al.
ANNALS OF HUMAN GENETICS (2013)
Hypertension in Pregnancy Report of the American College of Obstetricians and Gynecologists' Task Force on Hypertension in Pregnancy
James M. Roberts et al.
OBSTETRICS AND GYNECOLOGY (2013)
Genomic Medicine: A Decade of Successes, Challenges, and Opportunities
Jeanette J. McCarthy et al.
SCIENCE TRANSLATIONAL MEDICINE (2013)
Molecular genetics of preeclampsia and HELLP syndrome - A review
Jiska Jebbink et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2012)
A tale of three next generation sequencing platforms: comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq sequencers
Michael A. Quail et al.
BMC GENOMICS (2012)
Comparison of Next-Generation Sequencing Systems
Lin Liu et al.
JOURNAL OF BIOMEDICINE AND BIOTECHNOLOGY (2012)
Genome-Wide Association Scan Identifies a Risk Locus for Preeclampsia on 2q14, Near the Inhibin, Beta B Gene
Matthew P. Johnson et al.
PLOS ONE (2012)
Increased Protein-Coding Mutations in the Mitochondrial Genome of African American Women With Preeclampsia
David Ding et al.
REPRODUCTIVE SCIENCES (2012)
Design and Statistical Analysis of Pooled Next Generation Sequencing for Rare Variants
Tao Wang et al.
JOURNAL OF PROBABILITY AND STATISTICS (2012)
Prevention of gravidic endothelial hypertension by aspirin treatment administered from the 8th week of gestation
Abdelouahab Bakhti et al.
HYPERTENSION RESEARCH (2011)
Exome sequencing as a tool for Mendelian disease gene discovery
Michael J. Bamshad et al.
NATURE REVIEWS GENETICS (2011)
Immunology of Pre-Eclampsia
Christopher W. G. Redman et al.
AMERICAN JOURNAL OF REPRODUCTIVE IMMUNOLOGY (2010)
Uterine artery Doppler and low-dose aspirin to predict and prevent preeclampsia
S. Roberge et al.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY (2010)
NGSQC: cross-platform quality analysis pipeline for deep sequencing data
Manhong Dai et al.
BMC GENOMICS (2010)
The STOX1 genotype associated with pre-eclampsia leads to a reduction of trophoblast invasion by α-T-catenin upregulation
Marie van Dijk et al.
HUMAN MOLECULAR GENETICS (2010)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
STOX1 Overexpression in Choriocarcinoma Cells Mimics Transcriptional Alterations Observed in Preeclamptic Placentas
Virginie Rigourd et al.
PLOS ONE (2008)
Four-color DNA sequencing with 3'-O-modified nucleotide reversible terminators and chemically cleavable fluorescent dideoxynucleotides
Jia Guo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Pre-eclampsia: Is the immune maladaptation hypothesis still standing? An epidemiological update
Gus Dekker et al.
JOURNAL OF REPRODUCTIVE IMMUNOLOGY (2007)
Four-color DNA sequencing by synthesis using cleavable fluorescent nucleotide reversible terminators
Jingyue Ju et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Objective prioritization of positional candidate genes at a quantitative trait locus for pre-eclampsia on 2q22
E. K. Moses et al.
MOLECULAR HUMAN REPRODUCTION (2006)
Immunogenetic determinants of preeclampsia and related pregnancy disorders - A systematic review
AF Saftlas et al.
OBSTETRICS AND GYNECOLOGY (2005)
Maternal and fetal genetic factors account for most of familial aggregation of preeclampsia: A population-based Swedish cohort study
S Cnattingius et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
A genome scan in families from Australia and New Zealand confirms the presence of a maternal susceptibility locus for pre-eclampsia, on chromosome 2
EK Moses et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2000)