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Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1401705
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- Publication type:
- Article
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 465, doi. 10.1002/pd.6537
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- Publication type:
- Article
Likely pathogenic variant in the BICD2 gene in fetus presenting with non‐immune hydrops.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 6, p. 727, doi. 10.1002/pd.6386
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- Publication type:
- Article
Lessons learnt from prenatal exome sequencing.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 7, p. 831, doi. 10.1002/pd.6165
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- Publication type:
- Article
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 6, p. 662, doi. 10.1002/pd.6115
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- Publication type:
- Article
Fetal central nervous system anomalies: When should we offer exome sequencing?
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 6, p. 736, doi. 10.1002/pd.6145
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- Publication type:
- Article
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 6, p. 783, doi. 10.1002/pd.6140
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- Publication type:
- Article
The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.
- Published in:
- 2020
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- Publication type:
- journal article
Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 1, p. 53, doi. 10.1373/clinchem.2019.304238
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- Publication type:
- Article
Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.
- Published in:
- Clinical Chemistry, 2020, v. 66, n. 1, p. 207, doi. 10.1373/clinchem.2019.305011
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- Publication type:
- Article