Associated Papers
Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Stenton SL et al.
Human Genomics, 2024
38685113 (PubMed )
Supplement: 40246_2024_604_MOESM1_ESM.xlsx › Table_S1
H2A monoubiquitination: insights from human genetics and animal models.
Ryan CW et al.
Human Genetics, 2024
Acute Lymphoblastic Leukemia in a Pediatric Patient With Turnpenny-Fry Syndrome.
Patrício Rodrigues I et al.
Cureus, 2024
Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
Stenton SL et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37577678 (PubMed )
Supplement: media-1.xlsx › Table_S1
A new case of Turnpenny-Fry syndrome.
Ercoskun P et al.
American Journal of Medical Genetics. Part A, 2022
Investigation of an inherited PCGF2: p.Pro65Leu mutation causing Turnpenny-Fry syndrome.
Qi KY et al.
American Journal of Translational Research, 2022
Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data.
Wright CF et al.
Nature Communications, 2019
31278258 (PubMed )
Supplement: 41467_2019_11059_MOESM3_ESM.xlsx › Supplementary_Data1
Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features.
Turnpenny PD et al.
American Journal of Human Genetics, 2018
Genome-wide investigation of an ID cohort reveals de novo 3'UTR variants affecting gene expression.
Devanna P et al.
Human Genetics, 2018
Large-scale discovery of novel genetic causes of developmental disorders.
Unknown Author
Nature, 2015
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