Daniel Wegner

Also affiliated with Washington University in St. Louis, University of Utah, Fraunhofer Institute of Optronics, System Technologies and Image Exploitation, Saint Louis University

MedicineEngineeringBiochemistry, Genetics and Molecular BiologyPhysics and Astronomy

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: “Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants”.

Functional characterization of four ATP‐binding cassette transporter A3 gene (ABCA3) variants

Human Mutation(2020)10.1002/humu.24014

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0DataRank · unranked

20 citations

Ping Yang, Daniel Wegner, Hillary B. Heins, Cliff J. Luke, Fuhai Li +5 more

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61962

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0DataRank · unranked

10 citations

Daniel Wegner, Alexander J. Paul, Marcia Willing, Kathleen Sisco, Matthew L. Tedder +6 more

Digenic Variants in the FGF21 Signaling Pathway Associated with Severe Insulin Resistance and Pseudoacromegaly

Journal of the Endocrine Society(2020)10.1210/jendso/bvaa138

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0DataRank · unranked

12 citations

Daniel Wegner, Jennifer Wambach, F. Sessions Cole, Fumihiko Urano, David M. Ornitz +1 more

Phenotypic expansion of KMT2D‐related disorder: Beyond Kabuki syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61518

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0DataRank · unranked

37 citations

Rebecca C. Spillmann, Daniel Wegner, Jennifer Wambach, Frances V. White, Kathleen Sisco +6 more

Precise breakpoint detection in a patient with 9p– syndrome

Molecular Case Studies(2020)10.1101/mcs.a005348

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0DataRank · unranked

12 citations

Eleanor I. Sams, Dustin Baldridge, Milinn Kremitzki, Daniel Wegner, Tina Lindsay +4 more

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

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0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 more

Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)

The Journal of Steroid Biochemistry and Molecular Biology(2021)10.1016/j.jsbmb.2021.105908

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1 citations

Daniel Wegner, Sarah Gale, Ping Yang, Abby Hollander, Lori St. Dennis-Feezle +5 more

De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies

medRxiv(2021)10.1101/2021.12.07.21266342

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0DataRank · unranked

3 citations

Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie‐Pier Scott‐Boyer, Geeske M. van Woerden +67 more

Bi-allelic variants in INTS11 are associated with a complex neurological disorder

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.012

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38 citations

Erica L. Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Laura Schultz‐Rogers +95 more

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.009

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0DataRank · unranked

13 citations

Ashish R. Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani +30 more

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Genetics in Medicine(2024)10.1016/j.gim.2024.101174

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4 citations

Kristhen N Atala, Yiming Zheng, Debdeep Dutta, Dorothy K. Grange, Wen‐Wen Lin +95 more

Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1‐related RASopathy

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63854

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0 citations

Daniel Wegner, Jennifer Wambach, Kathleen Sisco, Stephen Stone, Jonathan H. Sheehan +6 more

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

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0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109004

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0DataRank · unranked

0 citations

Daniel Wegner, Alexander J. Paul, William Buchser, Robert G. Schmidt, Jai Prakash Sharma +14 more

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

Genome Medicine(2025)10.1186/s13073-025-01546-1

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0DataRank · unranked

8 citations

Shruti Marwaha, Alistair Ward, Shilpa N. Kobren, Jennefer N. Carter, Undiagnosed Diseases Network +94 more

ELFN1 deficiency: The mechanistic basis and phenotypic spectrum of a neurodevelopmental disorder with epilepsy

Genetics in Medicine(2025)10.1016/j.gim.2025.101506

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0DataRank · unranked

3 citations

Chu-Ting Chang, A. Declève, Gloria Brunori, W.H. Ludlam, Alden Huang +93 more