Jenny Thies

Biochemistry, Genetics and Molecular BiologyMedicine

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 13 papers. Top paper: “Targeted long-read sequencing identifies missing disease-causing variation”.

Targeted long-read sequencing identifies missing disease-causing variation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.006

N/A

0.825DataRank · unranked

243 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +45 more

De novo missense variants in exon 9 of SEPHS1 cause a neurodevelopmental condition with developmental delay, poor growth, hypotonia, and dysmorphic features

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.02.016

N/A

0.269DataRank · unranked

5 citations

Kaitlyn Kiernan, Erin Torti, Ethan Pavlovsky, Nicholas Tilton, Austin Sekula +35 more

The co‐occurrence of Wilson disease and X‐linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1172

N/A

0DataRank · unranked

6 citations

Jenny Thies, Christopher J. Collins, Candace T. Myers, Remwilyn Dayuha, Phi Duong +6 more

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

JIMD Reports(2020)10.1002/jmd2.12127

N/A

0DataRank · unranked

4 citations

Sheri A. Poskanzer, Candace T. Myers, Jenny Thies, Christopher J. Collins, Remwilyn Dayuha +4 more

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.03.365395

N/A

0DataRank · unranked

10 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +32 more

Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases

Genetics in Medicine(2021)10.1038/s41436-021-01200-2

N/A

0DataRank · unranked

26 citations

Marvid S. Duarte Moreno, Jean‐François Benoist, Manfred Boehm, E. Bourrat, Aline Cano +28 more

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.06.006

N/A

0DataRank · unranked

12 citations

Phi Duong, Remwilyn Dayuha, Christopher J. Collins, Erika Beckman, Jenny Thies +10 more

Fractionated plasma N‐glycan profiling of novel cohort of ATP6AP1‐CDG subjects identifies phenotypic association

Journal of Inherited Metabolic Disease(2023)10.1002/jimd.12589

N/A

0DataRank · unranked

16 citations

Earnest James Paul Daniel, Jenny Thies, Irene J. Chang, Dana Goldner, Bobby G. Ng +19 more

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.10.007

N/A

0DataRank · unranked

8 citations

Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns +30 more

Clinical RNA sequencing clarifies variants of uncertain significance identified by prior testing

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101886

N/A

0DataRank · unranked

7 citations

Jennifer N. Cech, Cate Paschal, Bri Dingmann, Anna I. Scott, Jenny Thies +24 more

The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children

The Journal of Pediatrics(2020)10.1016/j.jpeds.2020.06.020

N/A

0DataRank · unranked

61 citations

Sarah V. Clowes Candadai, Megan Sikes, Jenny Thies, Heather M. Byers, Jennifer N. Dines +14 more

Expanded characterization of glycosylation abnormalities and galactose therapy in a patient with CCDC115-CDG using semi-quantitative N-glycan analysis of total and fractionated plasma glycoproteins, in response to Geerts et al. [1]

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109708

N/A

0DataRank · unranked

0 citations

Christina Lam, Sheri A. Poskanzer, Jenny Thies, Holly Stevens, Wenyue Zhang +3 more

CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.62011

N/A

0DataRank · unranked

13 citations

Anisha C. Schwarz, Brianna K. Brei, Sarah V. Clowes Candadai, Jenny Thies, Jean K. Mah +5 more