Panayiotis Constantinou

Further delineation of phenotypic spectrum of SCN2A‐related disorder

D. Baralle, J. Clayton-Smith, C. Ruivenkamp, 2021, American journal of medical genetics. Part A.

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study

Jay F Rowland, M. Hurles, Soo-Mi Park, 2019, The Lancet.

Evaluating variants classified as pathogenic in ClinVar in the DDD Study

M. Hurles, H. Firth, D. Fitzpatrick, 2020, Genetics in Medicine.

A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing

P. Lochhead, M. D'alessandro, J. Dean, 2015, Molecular Syndromology.

Cataract, abnormal electroretinogram and visual evoked potentials in a child with SMA-LED2 - extending the phenotype.

J. Baptista, I. Horrocks, R. Hamilton, 2022, Journal of neuromuscular diseases.

Genetics of gynaecological cancers.

M. Tischkowitz, Panayiotis Constantinou, 2017, Best practice & research. Clinical obstetrics & gynaecology.

Progressive osseous heteroplasia: A case report with an unexpected trigger

E. Kinning, L. Iughetti, A. Mason, 2023, Bone reports.