Serena Neumann

Also affiliated with University of Utah, Vanderbilt University Medical Center

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 6 papers. Top paper: “De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders”.

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0.360DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

A medical odyssey of a 72‐year‐old man with Charcot–Marie–Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiency

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63383

N/A

0DataRank · unranked

5 citations

Erica T. Nelson, Serena Neumann, John A. Phillips, Rizwan Hamid, Rory J. Tinker +5 more

Probable digenic inheritance of Diamond–Blackfan anemia

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63454

N/A

0DataRank · unranked

4 citations

Rory J. Tinker, Alican Gulsevin, Serena Neumann, Rizwan Hamid, Joy D. Cogan +7 more

Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63597

N/A

0DataRank · unranked

5 citations

Rory J. Tinker, Yutaka Furuta, Alican Gulsevin, Lisa Bastarache, Rizwan Hamid +8 more

Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition

Molecular Genetics and Metabolism Reports(2024)10.1016/j.ymgmr.2024.101145

N/A

0DataRank · unranked

0 citations

Yutaka Furuta, Devin Oglesbee, Enikö K. Pivnick, David C. Rinker, Jonathan H. Sheehan +9 more

First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene

Neurogenetics(2025)10.1007/s10048-025-00835-6

N/A

0DataRank · unranked

0 citations

Russell J. Stewart, Yutaka Furuta, Kimberly Ezell, Lynette Rives, Bethany Nunley +12 more