Author

Panayiotis Constantinou

Queen Elizabeth University HospitalORCID 0000-0002-0571-1616Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 2 Organism:human· 2 Approach:statistical model· 2 Assay:DNA methylation· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Abinayah JohniD· 1 shared Aiko Iwata‐OtsuboiD· 1 shared Akiko ShimamuraiD· 1 shared Alan E Fryer· 1 shared Amy M. BremaniD· 1 shared Ana BlatnikiD· 1 shared Anna KolesnikiD· 1 shared Anne O’Donnell‐LuriaiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Abinayah JohnORCID

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2 papers

Recent·Most cited

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

Morad Ansari, Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica Rose Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen V. Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata‐Otsubo, Thomy J.L. de Ravel, , Philip M. Boone

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

medRxiv · Sep 27, 2023 · PreprintGenetic & Genomic Medicine

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

Holly Melland, Fabian Bumbak, Anna Kolesnik, Elise Ng‐Cordell, Abinayah John, Panayiotis Constantinou, Shelagh K. Joss, Martin Jakob Larsen, Christina Ringmann Fagerberg, Lone Walentin Laulund, Jenny M. Thies, Frances Emslie, Marjolein H. Willemsen, Tjitske Kleefstra, Rolf Pfundt, , Kate Baker

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.

Genetics in Medicine · Jan 28, 2022Peer-reviewedGenetic & Genomic Medicine