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。Temporal trends in healthcare resource use and associated costs of patients with cystic fibrosis
Isabelle Durieu et al.
JOURNAL OF CYSTIC FIBROSIS (2022)
Interest in and uptake of genetic counseling for preconception carrier screening when offered to predominantly white reproductive-age persons seeking gynecologic care at a single US academic medical center
Carleigh B. Nesbit et al.
JOURNAL OF GENETIC COUNSELING (2022)
Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences
Aarti Ramdaney et al.
JOURNAL OF GENETIC COUNSELING (2022)
Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes
Thirsa Conijn et al.
JOURNAL OF GENETIC COUNSELING (2021)
Reproductive male partner testing when the female is identified to be a genetic disease carrier
Laurie Simone et al.
PRENATAL DIAGNOSIS (2021)
Fertility-a human right worthy of mandated insurance coverage: the evolution, limitations, and future of access to care
Jennifer F. Kawwass et al.
FERTILITY AND STERILITY (2021)
Evaluating the efficacy of three carrier screening workflows designed to identify at-risk carrier couples
Aishwarya Arjunan et al.
PRENATAL DIAGNOSIS (2021)
The ethics of preconception expanded carrier screening in patients seeking assisted reproduction
Guido de Wert et al.
HUMAN REPRODUCTION OPEN (2021)
Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'
Felicity K. Boardman
JOURNAL OF GENETIC COUNSELING (2021)
Assessing clinical education tools for expanded carrier screening
Chloe Dugger et al.
JOURNAL OF GENETIC COUNSELING (2021)
Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature
Eva Van Steijvoort et al.
HUMAN REPRODUCTION UPDATE (2020)
It takes two: uptake of carrier screening among male reproductive partners
Meagan Giles Choates et al.
PRENATAL DIAGNOSIS (2020)
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients
Gidon Akler et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2020)
Evaluation and classification of severity for 176 genes on an expanded carrier screening panel
Aishwarya Arjunan et al.
PRENATAL DIAGNOSIS (2020)
Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data
Simon Easteal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2020)
PATIENT EXPERIENCE WITH EXPANDED-CARRIER SCREENING: ADEQUACY OF PROVIDER COUNSELING, ECONOMIC BURDEN AND DECISION-MAKING REGARDING PARTNER TESTING
Alice J. Shapiro et al.
FERTILITY AND STERILITY (2020)
Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition
Lauren A. Thomas et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2020)
The aims of expanded universal carrier screening: Autonomy, prevention, and responsible parenthood
Sanne van der Hout et al.
BIOETHICS (2019)
The uptake of pan-ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling
Dana Larsen et al.
PRENATAL DIAGNOSIS (2019)
Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017
Patrice K. Held et al.
PUBLIC HEALTH REPORTS (2019)
Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre
Sara L. Bristow et al.
REPRODUCTIVE BIOMEDICINE ONLINE (2019)
Beware the laboratory report: discrepancy in variant classification on reproductive carrier screening
Aarti Ramdaney et al.
GENETICS IN MEDICINE (2018)
Experience of carrier couples identified through a population-based carrier screening pilot program for four founder autosomal recessive diseases in Saguenay-Lac-Saint-Jean
Jessica Tardif et al.
PRENATAL DIAGNOSIS (2018)
Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
Sumit Punj et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening
Elizabeth V. Clarke et al.
PLOS ONE (2018)
How do genetically disabled adults view selective reproduction? Impairment, identity, and genetic screening
Felicity K. Boardman et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2018)
Implementation of a Carrier Screening Program in a High-Risk Undergraduate Student Population Using Digital Marketing, Online Education, and Telehealth
Melanie Walker Hardy et al.
PUBLIC HEALTH GENOMICS (2018)
Advantages of expanded universal carrier screening: what is at stake?
Sanne van der Hout et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
Development of carrier testing for common inborn errors of metabolism in the Wisconsin Plain population
Ashley Kuhl et al.
GENETICS IN MEDICINE (2017)
Growing complexity of (expanded) carrier screening: Direct-to-consumer, physician-mediated, and clinic-based offers
Davit Chokoshvili et al.
BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY (2017)
Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments
Caron M. Molster et al.
FRONTIERS IN PUBLIC HEALTH (2017)
What works in genomics education: outcomes of an evidenced-based instructional model for community-based physicians
E. Kate Reed et al.
GENETICS IN MEDICINE (2016)
Genetic Carrier Screening in the Twenty-first Century
Ruofan Yao et al.
CLINICS IN LABORATORY MEDICINE (2016)
Responsible implementation of expanded carrier screening
Lidewij Henneman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Access to and use of infertility services in the United States: framing the challenges
Eli Y. Adashi et al.
FERTILITY AND STERILITY (2016)
Expanded carrier screening in an infertile population: how often is clinical decision making affected?
Jason M. Franasiak et al.
GENETICS IN MEDICINE (2016)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Expanded Carrier Screening in Reproductive Medicine-Points to Consider A Joint Statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine
Janice G. Edwards et al.
OBSTETRICS AND GYNECOLOGY (2015)
In utero hematopoietic cell transplantation for hemoglobinopathies
S. Christopher Derderian et al.
FRONTIERS IN PHARMACOLOGY (2015)
Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels
Gabriel A. Lazarin et al.
PLOS ONE (2014)
Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing
Peter Benn et al.
PRENATAL DIAGNOSIS (2014)
Living Systematic Reviews: An Emerging Opportunity to Narrow the Evidence-Practice Gap
Julian H. Elliott et al.
PLOS MEDICINE (2014)
Nothing About Us Without Us: Guidelines for Genetic Testing
Sharon F. Terry et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2013)
ACMG position statement on prenatal/preconception expanded carrier screening
Wayne W. Grody et al.
GENETICS IN MEDICINE (2013)
Cystic fibrosis testing 8 years on: Lessons learned from carrier screening and sequencing analysis
Charles M. Strom et al.
GENETICS IN MEDICINE (2011)
GRADE guidelines: 1. Introduction-GRADE evidence profiles and summary of findings tables
Gordon Guyatt et al.
JOURNAL OF CLINICAL EPIDEMIOLOGY (2011)
GRADE:: what is quality of evidence and why is it important to clinicians?
Gordon H. Guyatt et al.
BMJ-BRITISH MEDICAL JOURNAL (2008)
GRADE:: an emerging consensus on rating quality of evidence and strength of recommendations
Gordon H. Guyatt et al.
BRITISH MEDICAL JOURNAL (2008)
Is cystic fibrosis carrier screening cost effective?
S. Wei et al.
COMMUNITY GENETICS (2007)
分享论文
