Elizabeth Roeder

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 8 papers. Top paper: “Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications”.

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

UNC Libraries(2020)10.17615/dqyv-bh72

N/A

0DataRank · unranked

2 citations

Patricia A. Eng, M. Lance Cooper, Jonathan S. Berg, Marwan Shinawi, Weimin He +17 more

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

Annals of Neurology(2021)10.1002/ana.26147

N/A

0DataRank · unranked

18 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +32 more

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms

Molecular Genetics & Genomic Medicine(2021)10.1002/mgg3.1809

N/A

0DataRank · unranked

14 citations

Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott +40 more

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.03.09.434675

N/A

0DataRank · unranked

2 citations

Kyle R. Christensen, Emily Bryant, Amy Schneider, Jennifer Rakotomamonjy, Alison M. Muir +25 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247

N/A

0DataRank · unranked

41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 more

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.016

N/A

0DataRank · unranked

25 citations

Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc +59 more

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Genetics in Medicine(2023)10.1016/j.gim.2023.101023

N/A

0DataRank · unranked

11 citations

Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier +95 more

Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.01.006

N/A

0DataRank · unranked

6 citations

Marisol Cortés, Periklis Makrythanasis, Mohnish Suri, Alexander M. Taylor, Jennifer A. Sullivan +44 more