Sofia Douzgou

Also affiliated with University of Manchester, Manchester University NHS Foundation Trust, St Mary's Hospital, Genomics (United Kingdom)

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 5 papers. Top paper: “Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency”.

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2019.12.007

N/A

0DataRank · unranked

114 citations

Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar +27 more

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Genetics in Medicine(2020)10.1038/s41436-020-0817-2

N/A

0DataRank · unranked

51 citations

Araceli Cuellar, Krithi Bala, Sigrid M. A. Swagemakers, Nils Koelling, Simon J. McGowan +19 more

A standard of care for individuals with PIK3CA ‐related disorders: An international expert consensus statement

Clinical Genetics(2021)10.1111/cge.14027

N/A

0DataRank · unranked

55 citations

Myfanwy Rawson, Eulàlia Baselga, Moise Danielpour, Laurence Faivre, Alon Kashanian +15 more

DNMT3Aovergrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults

Blood(2021)10.1182/blood.2021014052

N/A

0DataRank · unranked

19 citations

Amanda M. Smith, Sharon E. Heath, Eric J. Duncavage, Matthew J. Oberley, David R. Freyer +13 more

Epigenomic and phenotypic characterization of DEGCAGS syndrome

European Journal of Human Genetics(2024)10.1038/s41431-024-01702-y

N/A

0DataRank · unranked

6 citations

Denisa Weis, Ingvild Aukrust, Tzung‐Chien Hsieh, Marie Horackova, Julie Paulsen +37 more