Kristen Deak

Also affiliated with Duke University Health System

MedicineBiochemistry, 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 6 papers. Top paper: “Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses”.

Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

Genetics in Medicine(2020)10.1038/s41436-020-0781-x

N/A

0DataRank · unranked

43 citations

Queenie K.‐G. Tan, Nicholas Stong, Kristen Deak, Allyn McConkie‐Rosell, Marie McDonald +4 more

A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III

Molecular Genetics and Metabolism Reports(2021)10.1016/j.ymgmr.2021.100821

N/A

0DataRank · unranked

19 citations

Anna K. Paschall, Sarah P. Young, Brian P. Smith, Laura E. Case, Tracy Boggs +8 more

Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1665

N/A

0DataRank · unranked

18 citations

Hayk Barseghyan, Surajit Bhattacharya, Yulong Fu, Nicole L. Hoppman, Cherisse A. Marcou +8 more

Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63363

N/A

0DataRank · unranked

11 citations

Lucia Guidugli, Monia Hammer, Chelsea Barrows, Anne Gregor, Sangmoon Lee +9 more

The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100288

N/A

0DataRank · unranked

3 citations

Samuel W Liu, Ludmila Francescatto, Alexander Behura, Mariele Anneling, David G. Jackson +8 more

The challenges and opportunities of offering and integrating training in clinical molecular genetics and clinical cytogenetics: A survey of LGG Fellowship Program Directors

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101820

N/A

0DataRank · unranked

2 citations

Vimla S. Aggarwal, A. Bale, Daniel B. Bellissimo, Jessica K. Booker, Yang Cao +30 more