Published on 01/19/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Paterra Rosina et al. Cancers 2023 15(1) -
Candidate diagnostic biomarkers for neurodevelopmental disorders in children and adolescents: a systematic review.
Cortese Samuele et al. World psychiatry : official journal of the World Psychiatric Association (WPA) 2023 22(1) 129-149 -
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective.
Félix Têmis Maria et al. International journal for equity in health 2023 22(1) 11 -
Re-recognition of BMPR1A-related polyposis: beyond juvenile polyposis and hereditary mixed polyposis syndrome.
Zhao Zi-Ye et al. Gastroenterology report 2023 11goac082 -
International Consensus Guideline on Small for Gestational Age (SGA): Etiology and Management from Infancy to Early Adulthood.
Hokken-Koelega Anita C S et al. Endocrine reviews 2023 -
Baseline Range of Motion, Strength, Motor Function, and Participation in Youth with Hutchinson-Gilford Progeria Syndrome.
Malloy Julie et al. Physical & occupational therapy in pediatrics 2023 1-20 -
A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain.
Zozaya Néboa et al. Global & regional health technology assessment 2023 914-21 -
Three Siblings With Woodhouse-Sakati Syndrome: A Case Report of A New Saudi Family.
Alhuzaim Omar N et al. Cureus 2023 14(12) e32225 -
Cerebrotendinous Xanthomatosis: A practice review of pathophysiology, diagnosis, and treatment.
Nóbrega Paulo Ribeiro et al. Frontiers in neurology 2023 131049850 -
Parents' dilemma: A therapeutic decision for children with spinal muscular atrophy (SMA) type 1.
Boursange Sophie et al. Frontiers in pediatrics 2023 101062390 -
Analysis of trio test in neurodevelopmental disorders.
Kim Se Hee et al. Frontiers in pediatrics 2023 101073083 -
Association Between Proton Pump Inhibitor Use During Early Pregnancy and Risk of Congenital Malformations.
Choi Ahhyung et al. JAMA network open 2023 6(1) e2250366 -
A disease concept model for STXBP1-related disorders.
Sullivan Katie R et al. Epilepsia open 2023 -
Indicators of health in Down syndrome: A virtual focus group study with patients and their parents.
Santoro Stephanie L et al. Journal of applied research in intellectual disabilities : JARID 2023 -
Effect of interleukin-1 antagonist on growth of children with colchicine resistant or intolerant FMF.
Pinchevski-Kadir Shiran et al. Pediatric rheumatology online journal 2023 21(1) 4 -
Continuing a search for a diagnosis: the impact of adolescence and family dynamics.
Miller Ilana M et al. Orphanet journal of rare diseases 2023 18(1) 6 -
Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions.
Chawner Samuel J R A et al. Translational psychiatry 2023 13(1) 7
Cancer Genomics
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Implementation of Comprehensive Genomic Profiling in Ovarian Cancer Patients: A Retrospective Analysis.
Peleg Hasson Shira et al. Cancers 2023 15(1) -
GISTs with NTRK Gene Fusions: A Clinicopathological, Immunophenotypic, and Molecular Study.
Cao Zi et al. Cancers 2023 15(1) -
Surgical Outcomes of Thyroid Nodules Positive for Gene Expression Alterations Using ThyroSeq V3 Genomic Classifier.
Salameh Samer et al. Cancers 2023 15(1) -
CAV1 Impacts the Tumor Immune Microenvironment and Has Potential Value of Predicting Response to Immunotherapy in Esophageal Cancer.
Zhang Runan et al. DNA and cell biology 2023 42(1) 27-42 -
Clinical features and long-term outcomes of patients with colonic oligopolyposis of unknown etiology.
Feldman Dan et al. World journal of gastroenterology 2023 28(48) 6950-6961 -
A radiomics model development via the associations with genomics features in predicting axillary lymph node metastasis of breast cancer: a study based on a public database and single-centre verification.
Chen H et al. Clinical radiology 2023 -
Modeling Costs and Life-Years Gained by Population-Wide Next-Generation Sequencing or Single-Gene Testing in Nonsquamous Non-Small-Cell Lung Cancer in the United States.
Lemmon Christopher A et al. JCO precision oncology 2023 7e2200294 -
Programmatic Precision Oncology Decision Support for Patients With Gastrointestinal Cancer.
Keller Rachel B et al. JCO precision oncology 2023 7e2200342 -
Molecular profile of patients with myelofibrosis: a 10-year experience.
Dias Lara Faria Souza et al. Einstein (Sao Paulo, Brazil) 2023 21eAO0100 -
Effects of tobacco on the DNA of smokers and non-smokers affected by OSCC: systematic review and meta-analysis.
Schuch Lauren Frenzel et al. Brazilian oral research 2023 37e008 -
African inclusion in prostate cancer genomic studies provides the first glimpses into addressing health disparities through tailored clinical care.
Hayes Vanessa M et al. Clinical and translational medicine 2023 13(1) e1142 -
DNA fragility at the KMT2A/MLL locus: insights from old and new technologies.
Cowell Ian G et al. Open biology 2023 13(1) 220232 -
Cervical Cancer Stage at Diagnosis and Survival among Women ≥65 Years in California.
Cooley Julianne J P et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2023 32(1) 91-97 -
Nomogram Model for Predicting the Prognosis of High-Grade Glioma in Adults Receiving Standard Treatment: A Retrospective Cohort Study.
Du Peng et al. Journal of clinical medicine 2023 12(1) -
The Efficacy of Molecular Analysis in the Diagnosis of Bone and Soft Tissue Sarcoma: A 15-Year Mono-Institutional Study.
Benini Stefania et al. International journal of molecular sciences 2023 24(1) -
Risk of malignancy in cytologically indeterminate thyroid nodules harboring thyroid stimulating hormone receptor mutations.
Whitmer Dorota et al. Frontiers in endocrinology 2023 131073592 -
Cost-effectiveness of precision molecular diagnostic tests for stage II colorectal cancer.
Chaudhari Vivek S et al. Annals of translational medicine 2023 10(23) 1260 -
A risk stratification and prognostic prediction model for lung adenocarcinoma based on aging-related lncRNA.
Chen HuiWei et al. Scientific reports 2023 13(1) 460 -
[EWSR1-SMAD3 positive fibroblastic tumor: a clinicopathological analysis].
Su H Y et al. Zhonghua bing li xue za zhi = Chinese journal of pathology 2023 52(1) 19-24 -
Correlation between the expression of Ki67 and histopathological grade, tumor size, disease-free survival, and overall survival among breast cancer patients.
Leksono Radityo Budi et al. Breast disease 2023 41(1) 455-460 -
Comprehensive analysis of the correlation between GSTM1 and tumor immunity in colon cancer.
Luo Hao-Yun et al. Journal of gastrointestinal oncology 2023 13(6) 3025-3037 -
Reclassification of TCGA Diffuse Glioma Profiles Linked to Transcriptomic, Epigenetic, Genomic and Clinical Data, According to the 2021 WHO CNS Tumor Classification.
Zakharova Galina et al. International journal of molecular sciences 2023 24(1) -
Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis.
Jiménez-Rodríguez Begoña et al. International journal of molecular sciences 2023 24(1) -
Genomic and Transcriptional Profiling of Chinese Melanoma Patients Enhanced Potentially Druggable Targets: A Multicenter Study.
Li Yue et al. Cancers 2023 15(1) -
A study of gene variation in All-RAS wild-type metastatic colorectal cancer and its correlation with cetuximab.
Tao Huimin et al. Journal of gastrointestinal oncology 2023 13(6) 3009-3024 -
Multimodal single-cell and whole-genome sequencing of small, frozen clinical specimens.
Wang Yiping et al. Nature genetics 2023
Hereditary Cancer
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Molecular Basis of HER2-Targeted Therapy for HER2-Positive Colorectal Cancer.
Yoshikawa Ayumu et al. Cancers 2023 15(1) -
Controversies and Opportunities in the Clinical Daily Use of the 21-Gene Assay for Prognostication and Prediction of Chemotherapy Benefit in HR+/HER2- Early Breast Cancer.
Jacobs Flavia et al. Cancers 2023 15(1) -
Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change.
Busch Robyn M et al. Journal of neurodevelopmental disorders 2023 15(1) 3 -
Risk factors for persistent pain after breast cancer surgery: a multicentre prospective cohort study.
Tan H S et al. Anaesthesia 2023 -
Hereditary Endocrine Tumor Registries.
Moore Edwina C et al. Journal of the Endocrine Society 2023 7(3) bvac194 -
Cancer Risk Associated With PTEN Pathogenic Variants Identified Using Multigene Hereditary Cancer Panel Testing.
Cummings Shelly et al. JCO precision oncology 2023 7e2200415 -
The expression and mutation of BRCA1/2 genes in ovarian cancer: a global systematic study.
Chu Dinh-Toi et al. Expert review of molecular diagnostics 2023 -
Assessing Breast and Ovarian Cancer Risk Prior to Gender-Affirming Surgery.
Cortina Chandler S et al. JAMA surgery 2023 -
Fertility Preferences and Practices Among Young Women With Breast Cancer: Germline Genetic Carriers Versus Noncarriers.
Lewinsohn Rebecca et al. Clinical breast cancer 2023 -
Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer.
Cheng Heather H et al. JCO precision oncology 2023 7e2200104 -
Validation of a genetic-enhanced risk prediction model for colorectal cancer in a large community-based cohort.
Su Yu-Ru et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2023 -
A Cost-effectiveness Analysis of Adding Cetuximab to the First-line Treatment of Metastatic Colorectal Carcinoma in Iran; Considering Genetic Screening for Precision Medicine.
Yousefi Nazila et al. Journal of gastrointestinal cancer 2023 -
Original Article: prevalence and factors associated with liver fibrosis among first-degree relatives of Mexican Americans with hepatocellular carcinoma.
Sharpton Suzanne et al. Alimentary pharmacology & therapeutics 2023 -
At What Age Should We Stop Colorectal Cancer Screening? When Is Enough, Enough?
Lieberman David et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2023 32(1) 6-8 -
Sociodemographic, Clinical, and Variation Outcomes for Breast Cancer and Breast Cancer-Related Mutations in a Ten-Year Cohort From Neiva, Huila, Colombia.
Olaya Justo et al. Cureus 2023 14(12) e32257 -
Adding a genetic counseling assistant improves efficiency of hereditary cancer genetic counseling without impacting patient experience.
Cohen Stephanie A et al. Journal of genetic counseling 2023 -
The Role of Hormonal Replacement Therapy in BRCA Mutated Patients: Lights and Shadows.
Loizzi Vera et al. International journal of molecular sciences 2023 24(1) -
Glutamine synthetase regulates the immune microenvironment and cancer development through the inflammatory pathway.
Xuan Do Thi Minh et al. International journal of medical sciences 2023 20(1) 35-49 -
The Risk-Reducing Effect of Aspirin in Lynch Syndrome Carriers: Development and Evaluation of an Educational Leaflet.
Kaur Rajneesh et al. Advanced genetics (Hoboken, N.J.) 2023 3(2) 2100046 -
The economic value of knowing BRCA status: universal BRCA testing for breast cancer prevention.
Oh Mok et al. Expert review of pharmacoeconomics & outcomes research 2023 -
Prevalence of Germline BRCA1/2 Variants in Ashkenazi and Non-Ashkenazi Prostate Cancer Populations: A Systematic Review and Meta-Analysis.
Cioffi Antonio et al. Cancers 2023 15(1) -
Large Cancer Pedigree Involving Multiple Cancer Genes including Likely Digenic MSH2 and MSH6 Lynch Syndrome (LS) and an Instance of Recombinational Rescue from LS.
Vogelaar Ingrid P et al. Cancers 2023 15(1)
Chronic Disease
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Diagnosing Cystic Fibrosis in Adults.
Barry Peter J et al. Seminars in respiratory and critical care medicine 2023 -
Monoclonal Antibodies against Calcitonin Gene-Related Peptide for Migraine Prophylaxis: A Systematic Review of Real-World Data.
Pavelic Antun R et al. Cells 2023 12(1) -
Association of CSF GAP-43 and APOE ε4 with Cognition in Mild Cognitive Impairment and Alzheimer's Disease.
Zhu Yueli et al. Cells 2023 12(1) -
New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications.
Andreassen Ole A et al. World psychiatry : official journal of the World Psychiatric Association (WPA) 2023 22(1) 4-24 -
Study protocol of the Berlin Research Initiative for Diagnostics, Genetics and Environmental Factors in Schizophrenia (BRIDGE-S).
Braun Alice et al. BMC psychiatry 2023 23(1) 31 -
Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition.
Kammermeier Jochen et al. The lancet. Gastroenterology & hepatology 2023 -
Explainable machine learning aggregates polygenic risk scores and electronic health records for Alzheimer's disease prediction.
Gao Xiaoyi Raymond et al. Scientific reports 2023 13(1) 450 -
Examining the shared etiology of psychopathology with genome-wide association studies.
Mallard Travis T et al. Physiological reviews 2023 -
Clinicoradiologic data of familial cerebral cavernous malformation with age-related disease burden.
Kim Seondeuk et al. Annals of clinical and translational neurology 2023 -
The clinical utility of the BMD-related comprehensive genome-wide polygenic score in identifying individuals with a high risk of osteoporotic fractures.
Xiao Xiangxue et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2023 -
Polygenic Risk and Social Support in Predicting Depression Under Stress.
Cleary Jennifer L et al. The American journal of psychiatry 2023 appiajp21111100 -
Constructing a polygenic risk score for childhood obesity using functional data analysis.
Craig Sarah J C et al. Econometrics and statistics 2023 2566-86 -
An exploration of knowledge, risk perceptions, and communication in a family with multiple genetic risks for Parkinson's disease.
Daykin Emily C et al. Journal of genetic counseling 2023 -
Unraveling the genetic architecture of asthma.
Hernandez-Pacheco Natalia et al. Annals of translational medicine 2023 10(23) 1257 -
Genetics of nonpharmacological treatments of depression.
Zanardi Raffaella et al. Psychiatric genetics 2023 33(1) 1-7 -
Family coaggregation of type 1 diabetes mellitus, major depressive disorder, attention-deficiency hyperactivity disorder and autism spectrum disorder in affected families: a nationwide study.
Hsu Tien-Wei et al. Acta diabetologica 2023 -
The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study.
Elashi Asma A et al. International journal of molecular sciences 2023 24(1) -
The Impact of Wearable Devices on Physical Activity for Chronic Disease Patients: Findings from the 2019 Health Information National Trends Survey.
Yu Shiyuan et al. International journal of environmental research and public health 2023 20(1) -
Lifestyle and Health-Related Quality of Life Relationships Concerning Metabolic Disease Phenotypes on the Nutrimdea Online Cohort.
Higuera-Gómez Andrea et al. International journal of environmental research and public health 2023 20(1) -
Association of Gulf War Illness with Characteristics in Deployed vs. Non-Deployed Gulf War Era Veterans in the Cooperative Studies Program 2006/Million Veteran Program 029 Cohort: A Cross-Sectional Analysis.
Duong Linh M et al. International journal of environmental research and public health 2023 20(1) -
A Cross-Trait, Mendelian Randomization Study to Investigate Whether Migraine Is a Risk Factor for Multiple Sclerosis.
Horton Mary K et al. Neurology 2023 -
Hormone replacement therapy is associated with improved cognition and larger brain volumes in at-risk APOE4 women: results from the European Prevention of Alzheimer's Disease (EPAD) cohort.
Saleh Rasha N M et al. Alzheimer's research & therapy 2023 15(1) 10 -
Walking pace, handgrip strength, age, APOE genotypes, and new-onset dementia: the UK Biobank prospective cohort study.
He Panpan et al. Alzheimer's research & therapy 2023 15(1) 9 -
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Chen Zhongbo et al. Brain : a journal of neurology 2023
Ethics/Policy/Law
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Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape.
Clayton Ellen Wright et al. Annual review of genomics and human genetics 2023 -
Expanded Non-invasive Prenatal Testing (NIPT) : Can the Child's Right to an Open Future Help Set the Scope?
Claesen Zoë et al. Journal of bioethical inquiry 2023
Practice
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Frequent copy number variants in a cohort of Mexican-Mestizo individuals.
Sánchez Silvia et al. Molecular cytogenetics 2023 16(1) 2 -
Long-read sequencing in the era of epigenomics and epitranscriptomics.
Lucas Morghan C et al. Nature methods 2023 20(1) 25-29 -
Secondary findings in a large Pakistani cohort tested with whole genome sequencing.
Skrahin Aliaksandr et al. Life science alliance 2023 6(3) -
Genic-intergenic polymorphisms of CYP1A genes and their clinical impact.
Kukal Samiksha et al. Gene 2023 147171 -
Finding the sweet spot: a qualitative study exploring patients' acceptability of chatbots in genetic service delivery.
Luca Stephanie et al. Human genetics 2023 -
Returning integrated genomic risk and clinical recommendations: the eMERGE study.
Linder Jodell E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100006 -
Clinical genetic counseling and translation considerations for polygenic scores in personalized risk assessments: A Practice Resource from the National Society of Genetic Counselors.
Wand Hannah et al. Journal of genetic counseling 2023 -
A pilot study of home-based genetic testing completion rate in telegenetics cancer clinics in West Virginia Appalachia.
Falah Nadia et al. American journal of medical genetics. Part A 2023 -
Gender and Sex in Medical Practice: An Exploratory Study on Knowledge, Behavior, and Attitude among Sicilian Physicians.
Campisi Giuseppina et al. International journal of environmental research and public health 2023 20(1)
Heart, Lung, Blood and Sleep Diseases
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The advantages and pitfalls of genetic analysis in the diagnosis and management of lipid disorders.
Berberich Amanda J et al. Best practice & research. Clinical endocrinology & metabolism 2023 101719 -
Use of Family History of cardiovascular disease or chronic hypertension to better identify who needs postpartum cardiovascular risk screening.
Ackerman-Banks Christina M et al. American journal of obstetrics & gynecology MFM 2023 100850 -
Thromboembolic Disease in Haemophilic Patients Undergoing Major Orthopaedic Surgery: Is Thromboprophylaxis Mandatory?
Badulescu Oana Viola et al. Diagnostics (Basel, Switzerland) 2023 13(1) -
Association between Familial Hypercholesterolemia and Serum Levels of Cholesterol Synthesis and Absorption Markers: The CACHE Study FH Analysis.
Matsuki Kota et al. Journal of atherosclerosis and thrombosis 2023 -
Are there differences in perceptions, preferences and attitudes towards disclosure of genetic testing for Stroke? A qualitative study among stroke-free SIREN-SIBS genomics study participants.
Arulogun Oyedunni et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2023 32(3) 106978 -
Genome-wide association studies of cardiovascular disease.
Walsh Roddy et al. Physiological reviews 2023 -
Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac Disease.
Melas Marilena et al. Journal of clinical medicine 2023 12(1) -
The efficacy of maternal health education and maternal screening on knowledge and the uptake of infant screening for sickle cell disease in Dar-Es-Salaam, Tanzania; a quasi experimental study.
Tutuba Hilda J et al. BMC public health 2023 23(1) 70 -
Development and usage of a health recommendation web tool (HeaRT) designed to inform women of personalized preventive health recommendations.
Greenberg Keren L et al. Internet interventions 2023 31100599 -
Validity of self-reported hypertension and related factors in the adult population: Preliminary results from the cohort in the west of Iran.
Piri Negar et al. Journal of clinical hypertension (Greenwich, Conn.) 2023 -
Cardiovascular risk-enhancing factors and coronary artery calcium in South Asian American adults: The MASALA study.
Shah Harini et al. American journal of preventive cardiology 2023 13100453 -
Safety and Effectiveness of Alirocumab, a Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibitor, in Patients With Familial or Non-Familial Hypercholesterolemia - A Post-Marketing Survey (J-POSSIBLE).
Kiyosue Arihiro et al. Circulation journal : official journal of the Japanese Circulation Society 2023 -
Generalizability of the REDUCE-IT trial to South Asians with cardiovascular disease.
Krishnaraj Aishwarya et al. Med (New York, N.Y.) 2023
Newborn Screening
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The Importance of Neonatal Screening for Galactosemia.
Badiu Ti?a Ioana et al. Nutrients 2023 15(1) -
Surveillance for the Rare Condition of Sickle Cell Disease in Wisconsin.
Singh Ashima et al. WMJ : official publication of the State Medical Society of Wisconsin 2023 121(4) 297-300
Pharmacogenomics
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Capecitabine-induced hand-foot syndrome: A pharmacogenetic study beyond DPYD.
de With Mirjam et al. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2023 159114232 -
Current diagnostic and clinical issues of screening for dihydropyrimidine dehydrogenase deficiency.
Etienne-Grimaldi Marie-Christine et al. European journal of cancer (Oxford, England : 1990) 2023 1813-17 -
Medication reconciliation to support pharmacogenomics implementation.
Mosley Scott A et al. Annals of translational medicine 2023 10(23) 1258 -
The effect of medication reconciliation on generating an accurate medication list in a pharmacogenomics practice.
Petry Natasha J et al. Annals of translational medicine 2023 10(23) 1259 -
Crosstalk between 5-methylcytosine and N-methyladenosine machinery defines disease progression, therapeutic response and pharmacogenomic landscape in hepatocellular carcinoma.
Tian Yu et al. Molecular cancer 2023 22(1) 5 -
Refinement of a pharmacogenomics app for dosing guidelines for oncology: findings from the usability evaluation.
Dodson Crystal et al. Annals of translational medicine 2023 10(23) 1261 -
DPYD genotyping and predicting fluoropyrimidine toxicity: where do we stand?
Lešnjakovic Lucija et al. Pharmacogenomics 2023
Reproductive Health
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Intergenerational trends in reproduction: Infertility and pregnancy loss.
Woolner Andrea Mf et al. Best practice & research. Clinical obstetrics & gynaecology 2023 102305 -
Non-invasive prenatal testing for the detection of trisomies 21, 18, and 13 in pregnant women with various clinical indications: A multi-center observational study of 1,854,148 women in China.
Xiang Liangcheng et al. Prenatal diagnosis 2023 -
Attitudes of professional stakeholders towards implementation of reproductive genetic carrier screening: a systematic review.
Pasquier Laurent et al. European journal of human genetics : EJHG 2023 -
Informed Consent for Expanded Carrier Screening: Past, Present, and Future.
Rink Britton D et al. Prenatal diagnosis 2023