Publications by authors named "Daniel Wegner"

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Severe Neurological Presentation in Siblings With -Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum.
Parith Wongkittichote, Rachel M Guerra, Daniel J Wegner, Samantha Toy, Jacqueline A Hauer

JIMD Rep· November 2025

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Lentiviral-mediated gene complementation rescues pathogenic variants.
Ashley L Cooney, Shakayla Lamer, Ping Yang, Daniel J Wegner, Frances V White

bioRxiv· August 2025

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Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Queenie K-G Tan, Allyn McConkie-Rosell, Rachel M Brown, Rebecca C Spillmann, Kelly Schoch, Daniel J Wegner

Am J Med Genet A· April 2025

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Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease.
Camille Louvrier, Tifenn Desroziers, Yohan Soreze, Martha Delgado Rodriguez, Lucie Thomas, Daniel J Wegner

EBioMedicine· March 2025

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Recurrent p.H119Y variant in MAP2K1 expands the phenotypic spectrum of MAP2K1 -related RASopathy.
Dorothy K Grange, Daniel J Wegner, Jennifer A Wambach, Kathleen A Sisco, Stephen I Stone

Am J Med Genet A· January 2025

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Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.
Marwan Shinawi, Daniel J Wegner, Alexander J Paul, William Buchser, Robert Schmidt

Mol Genet Metab· January 2025

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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.
Matthew J Moulton, Kristhen Atala, Yiming Zheng, Debdeep Dutta, Dorothy K Grange, Daniel J Wegner

Genet Med· September 2024

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Activating the Fluorescence of a Ni(II) Complex by Energy Transfer.
Tzu-Chao Hung, Yokari Godinez-Loyola, Manuel Steinbrecher, Brian Kiraly, Alexander A Khajetoorians, Daniel Wegner

J Am Chem Soc· April 2024

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Daniel J Wegner

Science· April 2024

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Homozygous, Intragenic Tandem Duplication of Causes Neonatal Respiratory Failure.
Jennifer A Wambach, Daniel J Wegner, Joseph Kitzmiller, Frances V White, Hillary B Heins

Am J Respir Cell Mol Biol· January 2024

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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Zelha Nil, Ashish R Deshwar, Yan Huang, Scott Barish, Xi Zhang, Daniel J Wegner

Am J Hum Genet· November 2023

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Burak Tepe, Erica L Macke, Marcello Niceta, Monika Weisz Hubshman, Oguz Kanca, Daniel J Wegner

Am J Hum Genet· May 2023

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PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Frédéric Ebstein, Sébastien Küry, Victoria Most, Cory Rosenfelt, Marie-Pier Scott-Boyer, Daniel J Wegner

Sci Transl Med· May 2023

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Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.
Luke Viehl, Daniel J Wegner, Stanley P Hmiel, Frances V White, Sanjay Jain

Pediatr Nephrol· February 2023

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Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in Resulting in CANVAS Syndrome.
Katherine Abell King, Daniel J Wegner, Robert C Bucelli, Jessica Shapiro, Alexander J Paul

Neurol Genet· December 2022

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Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.
Kathryn K Xu, Daniel J Wegner, Lucille C Geurts, Hillary B Heins, Ping Yang

Pediatr Pulmonol· May 2022

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Creating Tunable Quantum Corrals on a Rashba Surface Alloy.
Wouter Jolie, Tzu-Chao Hung, Lorena Niggli, Benjamin Verlhac, Nadine Hauptmann, Daniel Wegner

ACS Nano· March 2022

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Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.

JAMA Pediatr· December 2021

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Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).
Sofia E Luna, Daniel J Wegner, Sarah Gale, Ping Yang, Abby Hollander

J Steroid Biochem Mol Biol· September 2021

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Straightness metric for measurement of turbulence-induced distortion in long-range imaging.
Julia Hofmann, Rilene Goelzer, Daniel Wegner, Szymon Gladysz, Karin Stein

Appl Opt· August 2021

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Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients.
Parith Wongkittichote, Daniel J Wegner, Marwan S Shinawi

J Hum Genet· July 2021

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Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).
Kristen K Rosano, Daniel J Wegner, Marwan Shinawi, Dustin Baldridge, Robert C Bucelli

Am J Med Genet A· July 2021

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases.
Shilpa Nadimpalli Kobren, Dustin Baldridge, Matt Velinder, Joel B Krier, Kimberly LeBlanc, Daniel J Wegner

Genet Med· June 2021

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Plasmon-Driven Motion of an Individual Molecule.
Tzu-Chao Hung, Brian Kiraly, Julian H Strik, Alexander A Khajetoorians, Daniel Wegner

Nano Lett· June 2021

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A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl/H-Exchanger, Causes Early-Onset Neurodegeneration.
Maya M Polovitskaya, Carlo Barbini, Diego Martinelli, Frederike L Harms, F Sessions Cole, Daniel J Wegner

Am J Hum Genet· December 2020

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