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| 37991340 | Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use. | Prenat Diagn | 2024 |
| 38054560 | Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis. | Prenat Diagn | 2024 |
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| 37596007 | Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. | Lancet Neurol | 2023 |
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| 37076973 | Position statement from the International Society for Prenatal Diagnosis on the use of non-invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies. | Prenat Diagn | 2023 |
| 36576352 | Variability in Fetal Fraction Estimation: Comparing Fetal Fractions Reported by Noninvasive Prenatal Testing Providers Globally. | Clin Chem | 2023 |
| 36760169 | Non-invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches. | Prenat Diagn | 2023 |
| 34266787 | Living with osteogenesis imperfecta: A qualitative study exploring experiences and psychosocial impact from the perspective of patients, parents and professionals. | Disabil Health J | 2022 |
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| 35476801 | Factors that impact on women's decision-making around prenatal genomic tests: An international discrete choice survey. | Prenat Diagn | 2022 |
| 35583085 | International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis. | Prenat Diagn | 2022 |
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| 36383187 | Non-invasive prenatal diagnosis (NIPD): how analysis of cell-free DNA in maternal plasma has changed prenatal diagnosis for monogenic disorders. | Clin Sci (Lond) | 2022 |
| 36281059 | Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis. | Prenat Diagn | 2022 |
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| 35170059 | Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta-analysis. | Prenat Diagn | 2022 |
| 34411415 | Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it? | BJOG | 2022 |
| 34747021 | What's out there for parents? A systematic review of online information about prenatal microarray and exome sequencing. | Prenat Diagn | 2022 |
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| 33829520 | Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered. | Prenat Diagn | 2021 |
| 33847422 | Fetal hydrops and the Incremental yield of Next-generation sequencing over standard prenatal Diagnostic testing (FIND) study: prospective cohort study and meta-analysis. | Ultrasound Obstet Gynecol | 2021 |
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| 31551312 | Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications. | Clin Chem | 2020 |
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| 31896776 | Development and mixed-methods evaluation of an online animation for young people about genome sequencing. | Eur J Hum Genet | 2020 |
| 32091628 | 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. | Prenat Diagn | 2020 |
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| 32882007 | Cell-Free DNA in Pediatric Solid Organ Transplantation Using a New Detection Method of Separating Donor-Derived from Recipient Cell-Free DNA. | Clin Chem | 2020 |
| 32597540 | The 2019 Malcolm Ferguson-Smith Young Investigator Award. | Prenat Diagn | 2020 |
| 32907778 | Non-invasive prenatal diagnosis and screening for monogenic disorders. | Eur J Obstet Gynecol Reprod Biol | 2020 |
| 32362033 | Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review. | Prenat Diagn | 2020 |
| 32561901 | Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges. | Eur J Hum Genet | 2020 |
| 32227640 | The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias. | Prenat Diagn | 2020 |
| 32130205 | PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders. | Reproduction | 2020 |
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| 31682025 | "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. | Prenat Diagn | 2019 |
| 31414475 | The 2018 Malcolm Ferguson-Smith Young Investigator Award. | Prenat Diagn | 2019 |
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| 31461397 | Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study. | Health Technol Assess | 2019 |