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。Correspondence on Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG) by Gregg et al
Sarah Righetti et al.
GENETICS IN MEDICINE (2022)
Knowledge, attitudes and preferences regarding reproductive genetic carrier screening among reproductive-aged men and women in Flanders (Belgium)
Eva Van Steijvoort et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (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)
Reasons affecting the uptake of reproductive genetic carrier screening among nonpregnant reproductive-aged women in Flanders (Belgium)
Eva Van Steijvoort et al.
JOURNAL OF GENETIC COUNSELING (2022)
Gene selection for the Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission)
Edwin P. Kirk et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
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)
Genetic counselling as a route to enhanced autonomy: using a sequential mixed methods research approach to develop a theory regarding presymptomatic genetic testing for young adults at risk of inherited cancer syndromes
Lea Godino et al.
JOURNAL OF COMMUNITY GENETICS (2021)
Ethical issues in reproductive genetic carrier screening
Lisa Dive et al.
MEDICAL JOURNAL OF AUSTRALIA (2021)
Expanded carrier screening for recessively inherited disorders: economic burden and factors in decision-making when one individual in a couple is identified as a carrier
Alice J. Shapiro et al.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (2021)
Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria
Marie Cosette Gabriel et al.
MOLECULAR GENETICS & GENOMIC MEDICINE (2021)
The PRISMA 2020 statement: an updated guideline for reporting systematic reviews
Matthew J. Page et al.
BMJ-BRITISH MEDICAL JOURNAL (2021)
Couples' experiences with expanded carrier screening: evaluation of a university hospital screening offer
Ivy van Dijke et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2021)
Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)
Anthony R. Gregg et al.
GENETICS IN MEDICINE (2021)
Counseling for personal health implications identified during reproductive genetic carrier screening
Samantha Gbur et al.
PRENATAL DIAGNOSIS (2021)
Non-invasive Prenatal Testing, What Patients Do Not Learn, May Be Due to Lack of Specialist Genetic Training by Gynecologists and Obstetricians?
Thomas Liehr
FRONTIERS IN GENETICS (2021)
Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database
Stephanie Nguengang Wakap et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
International perspectives on the implementation of reproductive carrier screening
Martin B. Delatycki et al.
PRENATAL DIAGNOSIS (2020)
Expanded carrier screening for preconception reproductive risk assessment: Prevalence of carrier status in a Mexican population
Carlos Hernandez-Nieto et al.
PRENATAL DIAGNOSIS (2020)
Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening
Stephanie C. M. Nijmeijer et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2020)
Socioeconomic status and uptake of reproductive carrier screening in Australia
Stephen J. Robson et al.
AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY (2020)
Feasibility of couple-based expanded carrier screening offered by general practitioners
Juliette Schuurmans et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2019)
Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening
Jennifer Thompson et al.
JOURNAL OF GENETIC COUNSELING (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)
Carrier screening for recessive disorders
Stylianos E. Antonarakis
NATURE REVIEWS GENETICS (2019)
Prenatal and preconception genetic counseling for consanguinity: Consanguineous couples' expectations, experiences, and perspectives
Emily Thain et al.
JOURNAL OF GENETIC COUNSELING (2019)
Clinical utility of expanded carrier screening: results-guided actionability and outcomes
Katherine A. Johansen Taber et al.
GENETICS IN MEDICINE (2019)
Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates
Alexandra Peyser et al.
GENETICS IN MEDICINE (2019)
Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism
Stephanie C. M. Nijmeijer et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Patient actions and reactions after receiving negative results from expanded carrier screening
S. A. Kraft et al.
CLINICAL GENETICS (2018)
Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population
Inge B. Mathijssen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2018)
Time Costs for Genetic Counseling in Preconception Carrier Screening with Genome Sequencing
Frances L. Lynch et al.
JOURNAL OF GENETIC COUNSELING (2018)
Pregnant Women's Perspectives on Expanded Carrier Screening
Lauren Propst et al.
JOURNAL OF GENETIC COUNSELING (2018)
Expanded carrier screening: a current survey of physician utilization and attitudes
Allison Briggs et al.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS (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)
Experiences among Women with Positive Prenatal Expanded Carrier Screening Results
Erin Rothwell et al.
JOURNAL OF GENETIC COUNSELING (2017)
Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views
Sandra Janssens et al.
BMC MEDICAL ETHICS (2017)
Genetic Counselors' Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability
Gabriel A. Lazarin et al.
JOURNAL OF GENETIC COUNSELING (2016)
Is It Worth Knowing? Focus Group Participants' Perceived Utility of Genomic Preconception Carrier Screening
Jennifer L. Schneider et al.
JOURNAL OF GENETIC COUNSELING (2016)
Obstetrician and gynecologists' population-based screening practices
Angie C. Jelin et al.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE (2016)
Responsible implementation of expanded carrier screening
Lidewij Henneman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Suddenly Having two Positive People who are Carriers is a Whole New Thing- Experiences of Couples Both Identified as Carriers of Cystic Fibrosis Through a Population-Based Carrier Screening Program in Australia
Liane Ioannou et al.
JOURNAL OF GENETIC COUNSELING (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)
A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy
Sally Lawton et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2015)
Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing
Peter Benn et al.
PRENATAL DIAGNOSIS (2014)
Enhancing the scoping study methodology: a large, inter-professional team's experience with Arksey and O'Malley's framework
Helena M. L. Daudt et al.
BMC MEDICAL RESEARCH METHODOLOGY (2013)
Expanded carrier screening in reproductive healthcare: perspectives from genetics professionals
D. Cho et al.
HUMAN REPRODUCTION (2013)
Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care: a qualitative study of women's experiences and expectations of participation
Vicki Tsianakas et al.
HEALTH EXPECTATIONS (2012)
Preconceptional genetic carrier testing and the commercial offer directly-to-consumers
Pascal Borry et al.
HUMAN REPRODUCTION (2011)
Carrier Screening for Spinal Muscular Atrophy (SMA) in 107,611 Pregnant Women during the Period 2005-2009: A Prospective Population-Based Cohort Study
Yi-Ning Su et al.
PLOS ONE (2011)
Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
Callum J. Bell et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Evaluation of a multi-disease carrier screening programme in Ashkenazi Jewish high schools
L. Ioannou et al.
CLINICAL GENETICS (2010)
Carrier testing for spinal muscular atrophy
Jonathan M. Gitlin et al.
GENETICS IN MEDICINE (2010)
Population-Based Genetic Screening for Cystic Fibrosis: Attitudes and Outcomes
L. Ioannou et al.
PUBLIC HEALTH GENOMICS (2010)
Population-based carrier screening for cystic fibrosis in Victoria: The first three years experience
John Massie et al.
AUSTRALIAN & NEW ZEALAND JOURNAL OF OBSTETRICS & GYNAECOLOGY (2009)
Tay Sachs disease carrier screening in schools: Educational alternatives and cheekbrush sampling
AA Gason et al.
GENETICS IN MEDICINE (2005)
Is cascade testing a sensible method of screening a population for autosomal recessive disorders?
JK Morris et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families
L Henneman et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)