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Co-ordinated care for people affected by rare diseases: the CONCORD mixed-methods study.
- Published in:
- Health & Social Care Delivery Research (HSDR), 2022, v. 10, n. 6, p. vii, doi. 10.3310/LNZZ5321
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- Article
Co-ordinated care for people affected by rare diseases: the CONCORD mixed-methods study.
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- Health & Social Care Delivery Research (HSDR), 2022, v. 10, n. 5, p. 7, doi. 10.3310/LNZZ5321
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- Publication type:
- Article
Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers.
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- Health Expectations, 2017, v. 20, n. 6, p. 1289, doi. 10.1111/hex.12568
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- Article
Will the introduction of non-invasive prenatal testing for Down's syndrome undermine informed choice?
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- Health Expectations, 2015, v. 18, n. 5, p. 1658, doi. 10.1111/hex.12159
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- Article
Development of a measure of genome sequencing knowledge for young people: The kids‐KOGS.
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- Clinical Genetics, 2019, v. 96, n. 5, p. 411, doi. 10.1111/cge.13607
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- Article
Experiences of coordinated care for people in the UK affected by rare diseases: cross-sectional survey of patients, carers, and healthcare professionals.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02934-9
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- Article
Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.
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- BMC Pregnancy & Childbirth, 2014, v. 14, n. 1, p. 1, doi. 10.1186/1471-2393-14-229
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- Article
A new decade, fond farewells and a new era for Prenatal Diagnosis.
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- Prenatal Diagnosis, 2021, v. 41, n. 1, p. 3, doi. 10.1002/pd.5891
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- Article
Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery.
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- Prenatal Diagnosis, 2020, v. 40, n. 13, p. 1627, doi. 10.1002/pd.5870
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- Article
Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery.
- Published in:
- 2020
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- Publication type:
- journal article
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
- Published in:
- 2020
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- Publication type:
- editorial
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, p. 1508, doi. 10.1002/pd.5670
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- Publication type:
- Article
Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review.
- Published in:
- 2020
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- journal article
The 2019 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2020
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- Publication type:
- editorial
The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.
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- 2020
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- Publication type:
- journal article
"The communication and support from the health professional is incredibly important": A qualitative study exploring the processes and practices that support parental decision-making about postmortem examination.
- Published in:
- 2019
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- Publication type:
- journal article
The 2018 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2019
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- Publication type:
- editorial
A sonographic approach to the prenatal diagnosis of skeletal dysplasias.
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- 2019
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- Publication type:
- journal article
Ultrasound examination: The key to maximising the benefits of advances in molecular diagnostic technologies.
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- 2019
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- Publication type:
- editorial
Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI?
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- 2019
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- Publication type:
- journal article
Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.
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- 2019
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- Publication type:
- journal article
In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018.
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- 2019
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- Publication type:
- editorial
Missed diagnoses of abnormal copy number variant cases: A national epidemic or an endemic at a single institution?
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- 2018
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- editorial
The 2017 Malcolm Ferguson-Smith Young Investigator Award.
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- 2018
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- Publication type:
- editorial
Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities.
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- 2018
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- Publication type:
- editorial
In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017.
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- 2018
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- Publication type:
- journal article
Advances in the prenatal diagnosis of monogenic disorders.
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- 2018
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- Publication type:
- editorial
Promises, pitfalls and practicalities of prenatal whole exome sequencing.
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- 2018
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- Publication type:
- journal article
Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
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- Prenatal Diagnosis, 2017, v. 37, n. 13, p. 1281, doi. 10.1002/pd.5182
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- Article
Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
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- 2017
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- journal article
Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?
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- 2017
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- journal article
Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion.
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- 2017
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- journal article
The 2016 Malcolm Ferguson-Smith Young Investigator Award.
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- 2017
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- Publication type:
- editorial
In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2016.
- Published in:
- 2017
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- Publication type:
- editorial
A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy.
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- 2016
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- Publication type:
- journal article
Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.
- Published in:
- 2016
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- journal article
The 2015 Malcolm Ferguson-Smith Young Investigator Award.
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- 2016
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- Publication type:
- editorial
Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?
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- 2016
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- Publication type:
- journal article
In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2015.
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- 2016
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- Publication type:
- editorial
Non-invasive prenatal testing for aneuploidy: a systematic review of Internet advertising to potential users by commercial companies and private health providers.
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- 2015
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- Publication type:
- journal article
Next generation sequencing and the next generation: how genomics is revolutionizing reproduction.
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- 2015
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- Publication type:
- editorial
Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.
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- 2015
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- Publication type:
- journal article
Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
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- 2015
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- Publication type:
- journal article
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
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- Prenatal Diagnosis, 2015, v. 35, n. 7, p. 656, doi. 10.1002/pd.4583
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- Article
The 2014 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2015
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- Publication type:
- Editorial
'Hope for safe prenatal gene tests'. A content analysis of how the UK press media are reporting advances in non-invasive prenatal testing.
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- Prenatal Diagnosis, 2015, v. 35, n. 5, p. 420, doi. 10.1002/pd.4488
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- Article
In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2014.
- Published in:
- 2015
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- Publication type:
- Editorial
Diagnostic accuracy of postmortem MRI for musculoskeletal abnormalities in fetuses and children.
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- Prenatal Diagnosis, 2014, v. 34, n. 13, p. 1254, doi. 10.1002/pd.4460
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- Article
The 2013 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2014
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- Publication type:
- Editorial
In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013.
- Published in:
- Prenatal Diagnosis, 2014, v. 34, n. 1, p. 1, doi. 10.1002/pd.4288
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- Article