Concepedia

Helen Lord

HL

Statistics

Publications

11

Citations

604

H-Index

11

Active since

2010

Affiliations

University of Oxford(Current)

Churchill Hospital

John Radcliffe Hospital

Oxford University Hospitals NHS Trust

MRC Weatherall Institute of Molecular Medicine

Helen Lord is an author at University of Oxford specializing in genetics, craniosynostosis genetics, and molecular genetics.

ORCID

Publications per year

2010–2020

11

Publications

11

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis

Stephen R.F. Twigg, Elena Vorgia, Simon J. McGowan et al. · Nature Genetics · 2013 · 174 citations

, , +12

Diagnostic value of exome and whole genome sequencing in craniosynostosis

Kerry A. Miller, Stephen R.F. Twigg, Simon J. McGowan et al. · Journal of Medical Genetics · 2016 · 123 citations · Full text

, , +16

Pure de novo partial trisomy 6p in a girl with craniosynostosis

Konstantinos Varvagiannis, Amalia Stefanidou, Yolanda Gyftodimou et al. · American Journal of Medical Genetics Part A · 2013 · 59 citations

, , +17

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Eduardo Calpena, Araceli Cuellar, Krithi Bala et al. · Genetics in Medicine · 2020 · 51 citations · Full text

, , +14

ERF‐related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome

Graeme E. Glass, Justine O’Hara, Natalie Canham et al. · American Journal of Medical Genetics Part A · 2019 · 47 citations · Full text

, , +17

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