Recent developments in genetics and medically assisted reproduction: from research to clinical applications

MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment

(2017) Anne Bachelot et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Characterizing nuclear and mitochondrial DNA in spent embryo culture media: genetic contamination identified

(2017) Elizabeth R. Hammond et al.   FERTILITY AND STERILITY

Optimal euploid embryo transfer strategy, fresh versus frozen, after preimplantation genetic screening with next generation sequencing: a randomized controlled trial

(2017) Alison Coates et al.   FERTILITY AND STERILITY

Accurate quantitation of mitochondrial DNA reveals uniform levels in human blastocysts irrespective of ploidy, age, or implantation potential

(2017) Andrea R. Victor et al.   FERTILITY AND STERILITY

The International Glossary on Infertility and Fertility Care, 2017

(2017) Fernando Zegers-Hochschild et al.   FERTILITY AND STERILITY

The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population

(2017) Glenn E. Palomaki et al.   GENETICS IN MEDICINE

Developments in IVF warrant the adoption of new performance indicators for ART clinics, but do not justify the abandonment of patient-centred measures

(2017) J. Wilkinson et al.   HUMAN REPRODUCTION

Adjuncts in the IVF laboratory: where is the evidence for ‘add-on’ interventions?

(2017) Joyce Harper et al.   HUMAN REPRODUCTION

Genetic evidence of ‘genuine’ empty follicle syndrome: a novel effective mutation in the LHCGR gene and review of the literature

(2017) Ping Yuan et al.   HUMAN REPRODUCTION

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification

(2017) Rick Kamps et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Attitudes of European Geneticists Regarding Expanded Carrier Screening

(2017) Sandra Janssens et al.   JOGNN-JOURNAL OF OBSTETRIC GYNECOLOGIC AND NEONATAL NURSING

Polar body transfer restores the developmental potential of oocytes to blastocyst stage in a case of repeated embryo fragmentation

(2017) Shuo-Ping Zhang et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Blastocoele re-expansion time in vitrified-warmed cycles is a strong predictor of clinical pregnancy outcome

(2017) Ruoyun Lin et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH

Preimplantation diagnosis and other modern methods for prenatal diagnosis

(2017) Joe Leigh Simpson et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

Correction of a pathogenic gene mutation in human embryos

(2017) Hong Ma et al.   NATURE

Nuchal translucency measurement in the era of prenatal screening for aneuploidy using cell free (cf)DNA

(2017) Barbara M. O'Brien et al.   PRENATAL DIAGNOSIS

Fetal therapy for Down syndrome: an ethical exploration

(2017) Guido de Wert et al.   PRENATAL DIAGNOSIS

Reproductive medicine involving genome editing: clinical uncertainties and embryological needs

(2017) Tetsuya Ishii   REPRODUCTIVE BIOMEDICINE ONLINE

Live birth derived from oocyte spindle transfer to prevent mitochondrial disease

(2017) John Zhang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis

(2017) M. M. Gil et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Is the hypothesis of preimplantation genetic screening (PGS) still supportable? A review

(2017) Norbert Gleicher et al.   Journal of Ovarian Research

Mitochondrial Modification Techniques and Ethical Issues

(2017) Lucía Gómez-Tatay et al.   Journal of Clinical Medicine

Phenotype and Tissue Expression as a Function of Genetic Risk in Polycystic Ovary Syndrome

(2017) Cindy T. Pau et al.   PLoS One

Epigenetic Alterations Affecting Transcription Factors and Signaling Pathways in Stromal Cells of Endometriosis

(2017) Iveta Yotova et al.   PLoS One

Ethics of Mitochondrial Replacement Techniques: A Habermasian Perspective

(2016) César Palacios-González   BIOETHICS

Expanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y

(2016) P. Benn   CLINICAL GENETICS

Genetics of primary ovarian insufficiency

(2016) R. Rossetti et al.   CLINICAL GENETICS

Genetics of mitochondrial dysfunction and infertility

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

Expanding the genotypic spectrum of Perrault syndrome

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

New clinical and molecular insights into Silver–Russell syndrome

(2016) Eloïse Giabicani et al.   CURRENT OPINION IN PEDIATRICS

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum

(2016) Elena J. Tucker et al.   ENDOCRINE REVIEWS

Erratum: Guidelines for diagnostic next-generation sequencing

(2016) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Responsible implementation of expanded carrier screening

(2016) Lidewij Henneman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration

(2016) Diane Van Opstal et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing

(2016) Susan M. Maxwell et al.   FERTILITY AND STERILITY

The challenge of embryonic mosaicism in preimplantation genetic screening

(2016) Richard T. Scott et al.   FERTILITY AND STERILITY

Preimplantation genetic testing: polar bodies, blastomeres, trophectoderm cells, or blastocoelic fluid?

(2016) M. Cristina Magli et al.   FERTILITY AND STERILITY

Adopting genetics: motivations and outcomes of personal genomic testing in adult adoptees

(2016) Natalie M. Baptista et al.   GENETICS IN MEDICINE

Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics

(2016) Anthony R. Gregg et al.   GENETICS IN MEDICINE

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine

(2016) Anna Abulí et al.   HUMAN MUTATION

Time to take human embryo culture seriously: Table I

(2016) Arne Sunde et al.   HUMAN REPRODUCTION

Disclosure of donor conception in the era of non-anonymity: safeguarding and promoting the interests of donor-conceived individuals?

(2016) Sophie Zadeh   HUMAN REPRODUCTION

Assisted reproductive technology in Europe, 2012: results generated from European registers by ESHRE

(2016)   HUMAN REPRODUCTION

Intent to treat analysis ofin vitrofertilization and preimplantation genetic screening versus expectant management in patients with recurrent pregnancy loss

(2016) Gayathree Murugappan et al.   HUMAN REPRODUCTION

The end of donor anonymity: how genetic testing is likely to drive anonymous gamete donation out of business

(2016) Joyce C. Harper et al.   HUMAN REPRODUCTION

Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals newDNAH1mutations

(2016) Amir Amiri-Yekta et al.   HUMAN REPRODUCTION

Genome engineering through CRISPR/Cas9 technology in the human germline and pluripotent stem cells

(2016) R. Vassena et al.   HUMAN REPRODUCTION UPDATE

A new mutation identified in SPATA16 in two globozoospermic patients

(2016) Elias ElInati et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Female infertility, infertility-associated diagnoses, and comorbidities: a review

(2016) Brent Hanson et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Molecular analysis of DNA in blastocoele fluid using next-generation sequencing

(2016) Yixin Zhang et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Introducing precise genetic modifications into human 3PN embryos by CRISPR/Cas-mediated genome editing

(2016) Xiangjin Kang et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency

(2016) Justine Bouilly et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations inTUBB8cause a multiplicity of phenotypes in human oocytes and early embryos

(2016) Ruizhi Feng et al.   JOURNAL OF MEDICAL GENETICS

Targeted next generation sequencing approach identifies eighteen new candidate genes in normosmic hypogonadotropic hypogonadism and Kallmann syndrome

(2016) Samuel D. Quaynor et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Preimplantation genetic screening 2.0: the theory

(2016) Joep Geraedts et al.   MOLECULAR HUMAN REPRODUCTION

The why, the how and the when of PGS 2.0: current practices and expert opinions of fertility specialists, molecular biologists, and embryologists

(2016) Karen Sermon et al.   MOLECULAR HUMAN REPRODUCTION

Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease

(2016) Louise A. Hyslop et al.   NATURE

CRISPR: Pursuit of profit poisons collaboration

(2016) Jacob S. Sherkow   NATURE

Genome editing in cardiovascular diseases

(2016) Alanna Strong et al.   Nature Reviews Cardiology

Prenatal and pre-implantation genetic diagnosis

(2016) Joris Robert Vermeesch et al.   NATURE REVIEWS GENETICS

Paternal Age Explains a Major Portion of De Novo Germline Mutation Rate Variability in Healthy Individuals

(2016) Simon L. Girard et al.   PLoS One

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways

(2016) Talitha I. Verhoef et al.   PRENATAL DIAGNOSIS

Pregnancy derived from human zygote pronuclear transfer in a patient who had arrested embryos after IVF

(2016) John Zhang et al.   REPRODUCTIVE BIOMEDICINE ONLINE

The Slippery Slope Argument in the Ethical Debate on Genetic Engineering of Humans

(2016) Douglas Walton   SCIENCE AND ENGINEERING ETHICS

Mitochondrial DNA copy number and replication in reprogramming and differentiation

(2016) Justin C. St. John   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Regulation of Injury-Induced Ovarian Regeneration by Activation of Oogonial Stem Cells

(2016) Piril Erler et al.   STEM CELLS

Cell-free DNA as a diagnostic marker for cancer: current insights

(2016) Samanta Salvi et al.   OncoTargets and Therapy

Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis

(2016) Sian Taylor-Phillips et al.   BMJ Open

Do We Pay Enough Attention to Culture Conditions in Context of Perinatal Outcome after In Vitro Fertilization? Up-to-Date Literature Review

(2016) Piotr Marianowski et al.   Biomed Research International

Roles for retrotransposon insertions in human disease

(2016) Dustin C. Hancks et al.   Mobile DNA

Human Germline Interventions–Think First

(2016) Elisabeth Hildt   Frontiers in Genetics

DNA End Resection: Facts and Mechanisms

(2016) Ting Liu et al.   GENOMICS PROTEOMICS & BIOINFORMATICS

The effect of parental age on the presence of de novo mutations - Lessons from neurofibromatosis type I

(2016) Tom Dubov et al.   Molecular Genetics & Genomic Medicine

Human Germline CRISPR-Cas Modification: Toward a Regulatory Framework

(2015) Niklaus H. Evitt et al.   AMERICAN JOURNAL OF BIOETHICS

Concurrent Whole-Genome Haplotyping and Copy-Number Profiling of Single Cells

(2015) Masoud Zamani Esteki et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deregulation of sertoli and leydig cells function in patients with klinefelter syndrome as evidenced by testis transcriptome analysis

(2015) Marco D’Aurora et al.   BMC GENOMICS

The “omics” of human male infertility: integrating big data in a systems biology approach

(2015) D. T. Carrell et al.   CELL AND TISSUE RESEARCH

Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes

(2015) Heidi Carmen Howard et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

(2015) Wybo Dondorp et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Reproductive tract microbiome in assisted reproductive technologies

(2015) Jason M. Franasiak et al.   FERTILITY AND STERILITY

Comprehensive chromosome screening improves embryo selection: a meta-analysis

(2015) Elias M. Dahdouh et al.   FERTILITY AND STERILITY

Mitochondrial DNA content as a viability score in human euploid embryos: less is better

(2015) Antonio Diez-Juan et al.   FERTILITY AND STERILITY

DNA methylation restrains transposons from adopting a chromatin signature permissive for meiotic recombination

(2015) Natasha Zamudio et al.   GENES & DEVELOPMENT

Cystic fibrosis carrier screening effects on birth prevalence and newborn screening

(2015) Carlo Castellani et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

AreFSHRpolymorphisms risk factors to premature ovarian insufficiency?

(2015) Emerson Barchi Cordts et al.   GYNECOLOGICAL ENDOCRINOLOGY

Exome sequencing reveals a nonsense mutation inTEX15causing spermatogenic failure in a Turkish family

(2015) Ozlem Okutman et al.   HUMAN MOLECULAR GENETICS

Outlier DNA methylation levels as an indicator of environmental exposure and risk of undesirable birth outcome

(2015) Jayashri Ghosh et al.   HUMAN MOLECULAR GENETICS

Evolutionary defined role of the mitochondrial DNA in fertility, disease and ageing

(2015) Auke B.C. Otten et al.   HUMAN REPRODUCTION UPDATE

Genetics of primary ovarian insufficiency: new developments and opportunities

(2015) Yingying Qin et al.   HUMAN REPRODUCTION UPDATE

Noninvasive Prenatal Testing and Incidental Detection of Occult Maternal Malignancies

(2015) Diana W. Bianchi et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Effect of follicle-stimulating hormone receptor Asn680Ser polymorphism on the outcomes of controlled ovarian hyperstimulation: an updated meta-analysis of 16 cohort studies

(2015) Huilin Tang et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Karyomapping—a comprehensive means of simultaneous monogenic and cytogenetic PGD: comparison with standard approaches in real time for Marfan syndrome

(2015) Alan R. Thornhill et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing

(2015) Paul Laissue   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Identification of a newDPY19L2mutation and a better definition ofDPY19L2deletion breakpoints leading to globozoospermia

(2015) Houda Ghédir et al.   MOLECULAR HUMAN REPRODUCTION

The Road to Mitochondrial Gene Transfer: Follow the Middle Lane

(2015) A L Bredenoord et al.   MOLECULAR THERAPY

A detour in the quest for oogonial stem cells: methods matter

(2015) David F Albertini et al.   NATURE MEDICINE

Cell-free DNA Analysis for Noninvasive Examination of Trisomy

(2015)   NEW ENGLAND JOURNAL OF MEDICINE

X-Linked TEX11 Mutations, Meiotic Arrest, and Azoospermia in Infertile Men

(2015) Alexander N. Yatsenko et al.   NEW ENGLAND JOURNAL OF MEDICINE

Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts

(2015) Ermanno Greco et al.   NEW ENGLAND JOURNAL OF MEDICINE

Committee Opinion No. 646 Summary

(2015)   OBSTETRICS AND GYNECOLOGY

Expanded Carrier Screening in Reproductive Medicine—Points to Consider

(2015) Janice G. Edwards et al.   OBSTETRICS AND GYNECOLOGY

Next generation sequencing and the next generation: how genomics is revolutionizing reproduction

(2015) Lyn S. Chitty et al.   PRENATAL DIAGNOSIS

Contingent non-invasive prenatal testing: an opportunity to improve non-genetic aspects of fetal aneuploidy screening

(2015) Wilfried Gyselaers et al.   PRENATAL DIAGNOSIS

Reflex antenatal DNA screening for Down syndrome

(2015) Nicholas J. Wald et al.   PRENATAL DIAGNOSIS

Global perspectives on clinical adoption of NIPT

(2015) Mollie A. Minear et al.   PRENATAL DIAGNOSIS

Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications?

(2015) Nancy C. Rose et al.   PRENATAL DIAGNOSIS

Open versus closed systems for vitrification of human oocytes and embryos

(2015) Gábor Vajta et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Epigenetic inheritance through the female germ-line: The known, the unknown, and the possible

(2015) Hugh J. Clarke et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Mitochondrial DNA Assessment to Determine Oocyte and Embryo Viability

(2015) Dagan Wells et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Genetics of Early and Normal Menopause

(2015) Joop Laven   SEMINARS IN REPRODUCTIVE MEDICINE

Autologous Germline Mitochondrial Energy Transfer (AUGMENT) in Human Assisted Reproduction

(2015) Dori Woods et al.   SEMINARS IN REPRODUCTIVE MEDICINE

Concise Reviews: Assisted Reproductive Technologies to Prevent Transmission of Mitochondrial DNA Disease

(2015) Jessica Richardson et al.   STEM CELLS

Functional genomics of PCOS: from GWAS to molecular mechanisms

(2015) Jan M. McAllister et al.   TRENDS IN ENDOCRINOLOGY AND METABOLISM

Somatic mosaicism: implications for disease and transmission genetics

(2015) Ian M. Campbell et al.   TRENDS IN GENETICS

Mitochondrial replacement therapy in reproductive medicine

(2015) Don P. Wolf et al.   TRENDS IN MOLECULAR MEDICINE

Clinical implementation of routine screening for fetal trisomies in the UKNHS: cell-free DNA test contingent on results from first-trimester combined test

(2015) M. M. Gil et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia

(2015) Christian R. Marshall et al.   G3-Genes Genomes Genetics

Application of next-generation sequencing for 24-chromosome aneuploidy screening of human preimplantation embryos

(2015) Haiyan Zheng et al.   Molecular Cytogenetics

Human germ line editing—roles and responsibilities

(2015) Jeantine E. Lunshof   Protein & Cell

CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes

(2015) Puping Liang et al.   Protein & Cell

Genetics of the ovarian reserve

(2015) Emanuele Pelosi et al.   Frontiers in Genetics

Presymptomatic Identification of Cancers in Pregnant Women During Noninvasive Prenatal Testing

(2015) Frédéric Amant et al.   JAMA Oncology

Parent of Origin, Mosaicism, and Recurrence Risk: Probabilistic Modeling Explains the Broken Symmetry of Transmission Genetics

(2014) Ian M. Campbell et al.   AMERICAN JOURNAL OF HUMAN GENETICS

For Your Interest? The Ethical Acceptability of Using Non-Invasive Prenatal Testing to Test ‘Purely for Information’

(2014) Zuzana Deans et al.   BIOETHICS

Influence of individual differences in disease perception on consumer response to direct-to-consumer genomic testing

(2014) D.L. Boeldt et al.   CLINICAL GENETICS

Blastocentesis: a source of DNA for preimplantation genetic testing. Results from a pilot study

(2014) Luca Gianaroli et al.   FERTILITY AND STERILITY

Anonymity 2.0: direct-to-consumer genetic testing and donor conception

(2014) Pascal Borry et al.   FERTILITY AND STERILITY

Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro

(2014) Senthilkumar A. Natesan et al.   GENETICS IN MEDICINE

Prenatal Whole Genome Sequencing

(2014) Greer Donley et al.   HASTINGS CENTER REPORT

ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues

(2014) W. Dondorp et al.   HUMAN REPRODUCTION

Parent psychological adjustment, donor conception and disclosure: a follow-up over 10 years

(2014) L. Blake et al.   HUMAN REPRODUCTION

Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency

(2014) Liat de Vries et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mitochondrial DNA in Day 3 embryo culture medium is a novel, non-invasive biomarker of blastocyst potential and implantation outcome

(2014) S. Stigliani et al.   MOLECULAR HUMAN REPRODUCTION

DNA methylation dynamics of the human preimplantation embryo

(2014) Zachary D. Smith et al.   NATURE

Mutations in HFM1 in Recessive Primary Ovarian Insufficiency

(2014) Jian Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

Model-Based Analysis of Costs and Outcomes of Non-Invasive Prenatal Testing for Down’s Syndrome Using Cell Free Fetal DNA in the UK National Health Service

(2014) Stephen Morris et al.   PLoS One

A heterozygous mutation of GALNTL5 affects male infertility with impairment of sperm motility

(2014) N. Takasaki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders

(2014) Senthilkumar A. Natesan et al.   REPRODUCTIVE BIOMEDICINE ONLINE

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

(2014) Melissa Hill et al.   BMC Pregnancy and Childbirth

NUMERICAL LIMITS IN DONOR CONCEPTION REGIMES: GENETIC LINKS AND 'EXTENDED FAMILY' IN THE ERA OF IDENTITY DISCLOSURE

(2014) J. Millbank   Medical Law Review

Genetic susceptibility to male infertility: news from genome-wide association studies

(2014) K. I. Aston   Andrology

Clinical genetic testing for male factor infertility: current applications and future directions

(2014) J. Hotaling et al.   Andrology

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

(2014) Catherine A Brownstein et al.   GENOME BIOLOGY

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies

(2014) Ana Bustamante-Aragones et al.   Journal of Clinical Medicine

In Vitro Culture Increases the Frequency of Stochastic Epigenetic Errors at Imprinted Genes in Placental Tissues from Mouse Concepti Produced Through Assisted Reproductive Technologies1

(2013) Eric de Waal et al.   BIOLOGY OF REPRODUCTION

Human Embryonic Stem Cells Derived by Somatic Cell Nuclear Transfer

(2013) Masahito Tachibana et al.   CELL

Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy

(2013) Joyce C Harper et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic)

(2013) Mireille Claustres et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Attitudes and disclosure decisions of Finnish parents with children conceived using donor sperm

(2013) M. Salevaara et al.   HUMAN REPRODUCTION

Noninvasive detection of fetal trisomy 21: systematic review and report of quality and outcomes of diagnostic accuracy studies performed between 1997 and 2012

(2013) E. Mersy et al.   HUMAN REPRODUCTION UPDATE

Dynamics and ethics of comprehensive preimplantation genetic testing: a review of the challenges

(2013) Kristien Hens et al.   HUMAN REPRODUCTION UPDATE

Improvements in antenatal screening for Down's syndrome

(2013) N J Wald et al.   JOURNAL OF MEDICAL SCREENING

The CRISPR Craze

(2013) E. Pennisi   SCIENCE

Transposable elements as genetic regulatory substrates in early development

(2013) Wesley D. Gifford et al.   TRENDS IN CELL BIOLOGY

Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening

(2013) O. B. Petersen et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY

Identification of a new recurrent Aurora kinase C mutation in both European and African men with macrozoospermia

(2012) M. Ben Khelifa et al.   HUMAN REPRODUCTION

Assisted reproduction treatment and epigenetic inheritance

(2012) A.P.A. van Montfoort et al.   HUMAN REPRODUCTION UPDATE

PGD and heteroplasmic mitochondrial DNA point mutations: a systematic review estimating the chance of healthy offspring

(2012) D.M.E.I. Hellebrekers et al.   HUMAN REPRODUCTION UPDATE

NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy

(2012) K. L. Wilson et al.   Journal of Genetic Counseling

Genome test slammed for assessing ‘racial purity’

(2012) Alison Abbott   NATURE

Towards germline gene therapy of inherited mitochondrial diseases

(2012) Masahito Tachibana et al.   NATURE

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

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

Epigenetics and the environment: emerging patterns and implications

(2012) Robert Feil et al.   NATURE REVIEWS GENETICS

New insights into establishment and maintenance of DNA methylation imprints in mammals

(2012) G. Kelsey et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Reprogramming DNA methylation in the mammalian life cycle: building and breaking epigenetic barriers

(2012) S. Seisenberger et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Novel Insights into DNA Methylation Features in Spermatozoa: Stability and Peculiarities

(2012) Csilla Krausz et al.   PLoS One

Aneuploidy in the Human Blastocyst

(2011) E. Fragouli et al.   CYTOGENETIC AND GENOME RESEARCH

Preconceptional genetic carrier testing and the commercial offer directly-to-consumers

(2011) P. Borry et al.   HUMAN REPRODUCTION

Intrafamilial medically assisted reproduction

(2011) et al.   HUMAN REPRODUCTION

Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders

(2011) Kiyonori Miura et al.   JOURNAL OF HUMAN GENETICS

Dynamic CpG island methylation landscape in oocytes and preimplantation embryos

(2011) Sébastien A Smallwood et al.   NATURE GENETICS

De novo DNA methylation: a germ cell perspective

(2011) Sébastien A. Smallwood et al.   TRENDS IN GENETICS

Accreditation of the PGD laboratory

(2010) J.C. Harper et al.   HUMAN REPRODUCTION

Mitochondrial gene replacement in primate offspring and embryonic stem cells

(2009) Masahito Tachibana et al.   NATURE

Distinctive chromatin in human sperm packages genes for embryo development

(2009) Saher Sue Hammoud et al.   NATURE