Concepedia

Stephanie Allen

SA

24

Publications

838

Citations

16

H-Index

1996

Active since

Affiliations

Birmingham Women’s and Children’s NHS Foundation Trust(Current)

University of Birmingham

Birmingham Women's Hospital

University of Manchester

University College London

Stephanie Allen is an author at Birmingham Women’s and Children’s NHS Foundation Trust specializing in medicine, public health, and genetics.

ORCID

Top concepts

Publications per year

1996–2024

24

Publications

24

Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage

Michael Parks, Samantha Court, Benjamin Bowns et al. · European Journal of Human Genetics · 2017 · 99 citations · Full text

Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)

L. Hughes, K McKay-Bounford, Emma Webb et al. · Endocrine Connections · 2019 · 97 citations · Full text

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Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage

Michael Parks, Samantha Court, Siobhán Cleary et al. · Prenatal Diagnosis · 2016 · 89 citations · Full text

Non-invasive diagnosis of retinoblastoma using cell-free DNA from aqueous humour

Amy Gerrish, E. C. Stone, Samuel Clokie et al. · British Journal of Ophthalmology · 2019 · 73 citations · Full text

EMQN best practice guidelines for genetic testing in dystrophinopathies

Carl Fratter, Raymond Dalgleish, Stephanie Allen et al. · European Journal of Human Genetics · 2020 · 66 citations · Full text

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