Eleanor G. Seaby

Also affiliated with University of Southampton

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 16 papers. Top paper: “Treatment of Multisystem Inflammatory Syndrome in Children”.

Treatment of Multisystem Inflammatory Syndrome in Children

New England Journal of Medicine(2021)10.1056/nejmoa2102968

N/A

9.0DataRank · unranked

367 citations

Ortensia Vito, Harsita Patel, Eleanor G. Seaby, Priyen Shah, Clare Wilson +14 more

The mutational constraint spectrum quantified from variation in 141,456 humans

Nature(2020)10.1038/s41586-020-2308-7

N/A

1.4DataRank · unranked

9958 citations

Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang +187 more

Transcript expression-aware annotation improves rare variant interpretation

Nature(2020)10.1038/s41586-020-2329-2

N/A

0.796DataRank · unranked

201 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +177 more

Transcript expression-aware annotation improves rare variant discovery and interpretation

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/554444

N/A

0.746DataRank · unranked

20 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +14 more

Immunoglobulin, glucocorticoid, or combination therapy for multisystem inflammatory syndrome in children: a propensity-weighted cohort study

The Lancet Rheumatology(2023)10.1016/s2665-9913(23)00029-2

N/A

0.574DataRank · unranked

45 citations

Ortensia Vito, Andrew McArdle, Eleanor G. Seaby, Harsita Patel, Priyen Shah +94 more

Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Genetics in Medicine(2022)10.1016/j.gim.2022.05.009

N/A

0.416DataRank · unranked

15 citations

Jinwei Zhang, Thomas Besnard, Alfonso Caro‐Llopis, Xue Zeng, Stephanie M. Robert +75 more

Treatment of Multisystem Inflammatory Syndrome in Children: Understanding Differences in Results of Comparative Effectiveness Studies

ACR Open Rheumatology(2022)10.1002/acr2.11478

N/A

0DataRank · unranked

14 citations

Eleanor G. Seaby, Andrew McArdle, Cameron C. Young, Angela P. Campbell, Nancy L. Murray +5 more

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

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.08.005

N/A

0DataRank · unranked

30 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 more

The Pediatric Crohn Disease Morbidity Index (PCD‐MI)

Journal of Pediatric Gastroenterology and Nutrition(2023)10.1097/mpg.0000000000003793

N/A

0DataRank · unranked

2 citations

Abhilasha Gurung, Cai Davis, Eleanor G. Seaby, Tracy Coelho, Akshay Batra +4 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 more

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

medRxiv(2023)10.1101/2023.03.08.23286955

N/A

0DataRank · unranked

4 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.01.008

N/A

0DataRank · unranked

27 citations

Amar J. Majmundar, Kamal Khan, Tze Yin Lim, Shirlee Shril, Gina Jin +62 more

Modelling human genetic disorders in Xenopus tropicalis

Disease Models & Mechanisms(2024)10.1242/dmm.050754

N/A

0DataRank · unranked

9 citations

Eleanor G. Seaby, Annie Godwin, Sarah Ennis, Matthew Guille, Robert M. Grainger +1 more