Claire E L Smith
7PUBLICATIONS
25CO-AUTHORS
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Publications (7)
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|Jul 31, 2025
Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.Ummey Hany, Christopher M Watson, Lu Liu
|Mar 08, 2024
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.Claire E L Smith, Virginie Laugel-Haushalter, Ummey Hany
|Mar 19, 2023
Targeted nanopore sequencing enables complete characterisation of structural deletions initially identified using exon-based short-read sequencing strategies.Benjamin McClinton, Laura A Crinnion, Martin McKibbin
|Feb 18, 2021
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.Georgios Nikolopoulos, Claire E L Smith, James A Poulter
|Feb 14, 2020
New missense variants in RELT causing hypomineralised amelogenesis imperfecta.Georgios Nikolopoulos, Claire E L Smith, Steven J Brookes
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Frequent Collaborators
6 joint publications
Chris F Inglehearn
4 joint publications
Alan J Mighell
4 joint publications
James A Poulter
4 joint publications
Christopher M Watson
3 joint publications
Georgios Nikolopoulos
3 joint publications
Gina Murillo
3 joint publications
Ummey Hany
2 joint publications
Alice Rigby
2 joint publications
Marìa Gabriela Acosta de Carmargo
2 joint publications
Lu Liu
