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Stephanie K. Allen
Observed names:
Allen, S.,
Allen, Stephanie,
S Allen,
S. Allen,
S. K. Allen,
Stephanie Allen
show all 6
Institutions:
Birmingham Women's Hospital,
Birmingham Women’s and Children’s NHS Foundation Trust
Observed institutions:
National Health Service,
Birmingham Women's Hospital,
Birmingham Women’s and Children’s NHS Foundation Trust
ORCID:
0000-0003-1511-613X
Observed ORCID:
0000-0003-1511-613X
OpenAlex ID:
A5045528408
Works
69
Awards
3
The accuracy of cell‐free fetal DNA ‐based non‐invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta‐analysis
2016
·
FL Mackie
, K Hemming
, et al.
·
BJOG An International Journal of Obstetrics & Gynaecology
·
307
Potential genetic causes of miscarriage in euploid pregnancies: a systematic review
2019
·
Emily Colley
, Susan Hamilton
, et al.
·
Human Reproduction Update
·
139
PDF
Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage
2017
·
Michael Parks
, Samantha Court
, et al.
·
European Journal of Human Genetics
·
104
PDF
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)
2019
·
L A Hughes
, K McKay-Bounford
, et al.
·
Endocrine Connections
·
102
PDF
Delivering an accredited non‐invasive prenatal diagnosis service for monogenic disorders and recommendations for best practice
2017
·
Lucy A. Jenkins
, Zandra C. Deans
, et al.
·
Prenatal Diagnosis
·
94
PDF
Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage
2016
·
Michael Parks
, Samantha Court
, et al.
·
Prenatal Diagnosis
·
89
PDF
Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour
2019
·
Amy Gerrish
, Edward Stone
, et al.
·
British Journal of Ophthalmology
·
83
PDF
EMQN best practice guidelines for genetic testing in dystrophinopathies
2020
·
Carl Fratter
, Raymond Dalgleish
, et al.
·
European Journal of Human Genetics
·
76
PDF
Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study
2021
·
F. Mone
, H. Abu Subieh
, et al.
·
Ultrasound in Obstetrics and Gynecology
·
58
Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom
2012
·
Melissa Hill
, Celine Lewis
, et al.
·
Expert Opinion on Biological Therapy
·
45
A Non-Invasive Droplet Digital PCR (ddPCR) Assay to Detect Paternal CFTR Mutations in the Cell-Free Fetal DNA (cffDNA) of Three Pregnancies at Risk of Cystic Fibrosis via Compound Heterozygosity
2015
·
Emmanuel Debrand
, Alexandra Lykoudi
, et al.
·
PLoS ONE
·
43
PDF
Next Generation Sequencing after Invasive Prenatal Testing in Fetuses with Congenital Malformations: Prenatal or Neonatal Investigation
2022
·
Alexandra Emms
, James Castleman
, et al.
·
Genes
·
32
PDF
Noninvasive prenatal diagnosis for single gene disorders
2017
·
Stephanie Allen
, Elizabeth Young
, et al.
·
Current Opinion in Obstetrics & Gynecology
·
32
Clinical Service Delivery of Noninvasive Prenatal Diagnosis by Relative Haplotype Dosage for Single-Gene Disorders
2020
·
Elizabeth Young
, Benjamin Bowns
, et al.
·
Journal of Molecular Diagnostics
·
31
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta‐analysis
2023
·
Gillian V. Blayney
, Eoghan Laffan
, et al.
·
Prenatal Diagnosis
·
28
PDF
Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases
2019
·
Hsu P. Chong
, Susan Hamilton
, et al.
·
Prenatal Diagnosis
·
28
Non-Invasive Prenatal Diagnosis of Retinoblastoma Inheritance by Combined Targeted Sequencing Strategies
2020
·
Amy Gerrish
, Benjamin Bowns
, et al.
·
Journal of Clinical Medicine
·
27
PDF
Cell-Free DNA in the Investigation of Miscarriage
2020
·
Emily Colley
, Adam J. Devall
, et al.
·
Journal of Clinical Medicine
·
23
PDF
Recommended practice for laboratory reporting of non‐invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion
2017
·
Zandra C. Deans
, Stephanie Allen
, et al.
·
Prenatal Diagnosis
·
23
PDF
The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study
2021
·
Fionnuala Mone
, Bethany K. Stott
, et al.
·
Fetal Diagnosis and Therapy
·
21
Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVS
2006
·
S. K. Allen
, A. Luharia
, et al.
·
Prenatal Diagnosis
·
20
Prenatal exome sequencing and impact on perinatal outcome: cohort study
2022
·
B. Poljak
, U. Agarwal
, et al.
·
Ultrasound in Obstetrics and Gynecology
·
18
PDF
Evolution of a prenatal genetic clinic—A 10‐year cohort study
2020
·
Fionnuala Mone
, Clare O'Connor
, et al.
·
Prenatal Diagnosis
·
18
Cell‐free fetal DNA ‐based noninvasive prenatal testing of aneuploidy
2017
·
Fiona L Mackie
, Stephanie Allen
, et al.
·
The Obstetrician & Gynaecologist
·
16
Chromosomal microarray analysis allows prenatal detection of low level mosaic autosomal aneuploidy
2014
·
Georgina K. Hall
, Fiona L. Mackie
, et al.
·
Prenatal Diagnosis
·
15
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Works count:
69
Citation count:
1,635
H-index:
20
I10-index:
34
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