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D. Wegner · SciRah

Researcher profile · Semantic Scholar

D. Wegner

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D. Wegner — researcher profile on SciRah

h-index: 19
Works: 64
Citations: 1,600

Most-cited papers

Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
J. Wambach, A. Casey, M. Fishman, D. Wegner +4 more
2014American Journal of Respiratory and Critical Care Medicine172 citations Open access
Semantic Scholar
Quantification of rare allelic variants from pooled genomic DNA
T. Druley, Francesco L. M. Vallania, D. Wegner, K. Varley +8 more
2009Nature Methods168 citations Open access
Semantic Scholar
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease
Ian D. Krantz, L. Medne, Jamila Weatherly, K. Wild +39 more
2021JAMA pediatrics163 citations Open access
Semantic Scholar
Single ABCA3 Mutations Increase Risk for Neonatal Respiratory Distress Syndrome
J. Wambach, D. Wegner, Kelcey Depass, H. Heins +7 more
2012Pediatrics100 citations Open access
Semantic Scholar
Population and Disease-Based Prevalence of the Common Mutations Associated With Surfactant Deficiency
T. Garmany, Jennifer A. Wambach, H. Heins, J. Watkins-Torry +9 more
2008Pediatric Research99 citations Open access
Semantic Scholar
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Elena-Raluca Nicoli, Mary R Weston, Mary E. Hackbarth, Alissa J. Becerril +264 more
2019American Journal of Human Genetics84 citations Open access
Semantic Scholar
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations
M. A. Coghlan, Adrián Shifren, Howard J. Huang, Tonya D. Russell +5 more
2014BMJ Open Respiratory Research74 citations Open access
Semantic Scholar
Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype
E. van Meel, D. Wegner, Paul F. Cliften, Marcia C. Willing +3 more
2013BMC Medical Genetics67 citations Open access
Semantic Scholar
Infants with Atypical Presentations of Alveolar Capillary Dysplasia with Misalignment of the Pulmonary Veins (ACDMPV) who underwent Bilateral Lung Transplantation
C. Towe, F. White, R. Grady, S. Sweet +8 more
2017Jornal de Pediatria60 citations Open access
Semantic Scholar
Informed consent for genetic research.
A. Hamvas, K. Madden, L. Nogee, M. Trusgnich +3 more
2004Archives of Pediatrics & Adolescent Medicine53 citations
Semantic Scholar
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
D. O. Dodd, Sabrina Méchaussier, P. Yeyati, Fraser McPhie +77 more
2024Science50 citations Open access
Semantic Scholar
An intronic ABCA3 mutation responsible for respiratory disease
A. Agrawal, A. Hamvas, F. S. Cole, Jennifer A. Wambach +4 more
2012Pediatric Research49 citations Open access
Semantic Scholar
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Maya M. Polovitskaya, Carlo Barbini, D. Martinelli, F. L. Harms +16 more
2020American Journal of Human Genetics38 citations Open access
Semantic Scholar
Inherited surfactant deficiency due to uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily A, member 3 genes
A. Hamvas, L. Nogee, D. Wegner, Kelcey Depass +10 more
2009Jornal de Pediatria38 citations Open access
Semantic Scholar
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
F. Ebstein, S. Küry, V. Most, C. Rosenfelt +70 more
2023Science Translational Medicine34 citations Open access
Semantic Scholar
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants
J. Granadillo, W. Chung, Leah E. Hecht, N. Corsten-Janssen +8 more
2018Human Mutation32 citations Open access
Semantic Scholar
Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases
S. Kobren, Dustin Baldridge, Matt Velinder, J. Krier +18 more
2021Genetics in Medicine27 citations Open access
Semantic Scholar
Developmental and Genetic Regulation of Human Surfactant Protein-B In Vivo
A. Hamvas, H. Heins, Susan H. Guttentag, D. Wegner +6 more
2008Neonatology22 citations Open access
Semantic Scholar
Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey
H. Cope, H. Barseghyan, Surajit Bhattacharya, Yu-Long Fu +290 more
2021Molecular Genetics & Genomic Medicine19 citations Open access
Semantic Scholar
Functional Genomics of ATP-Binding Cassette Transporter A3 (ABCA3) Variants.
J. Wambach, Ping Yang, D. Wegner, H. Heins +4 more
2020American Journal of Respiratory Cell and Molecular Biology18 citations Open access
Semantic Scholar
Functional Characterization of 4 ATP-Binding Cassette Transporter A3 Gene (ABCA3) Variants
June Hu, Ping Yang, D. Wegner, H. Heins +6 more
2020Human Mutation18 citations Open access
Semantic Scholar
Functional Characterization of Biallelic RTTN Variants Identified in an Infant with Microcephaly, Simplified Gyral Pattern, Pontocerebellar Hypoplasia, and Seizures
J. Wambach, D. Wegner, Ping Yang, M. Shinawi +10 more
2018Pediatric Research17 citations Open access
Semantic Scholar
Comprehensive Genetic Variant Discovery in the Surfactant Protein B Gene
A. Hamvas, D. Wegner, C. Carlson, Kelly R. Bergmann +7 more
2007Pediatric Research17 citations Open access
Semantic Scholar
Recombination as a mechanism for sporadic mutation in the surfactant protein‐C gene
Amy D. McBee, D. Wegner, C. Carlson, Jennifer A. Wambach +9 more
2008Pediatric Pulmonology16 citations Open access
Semantic Scholar
Whole-Genome and Long-Read Sequencing Identify a Novel Mechanism in RFC1 Resulting in CANVAS Syndrome
Katherine A King, D. Wegner, Robert C. Bucelli, J. Shapiro +3 more
2022Neurology: Genetics15 citations Open access
Semantic Scholar
A mutation in Site‐1 Protease is associated with a complex phenotype that includes episodic hyperCKemia and focal myoedema
G. Schweitzer, C. Gan, Robert C. Bucelli, D. Wegner +4 more
2019Molecular Genetics & Genomic Medicine15 citations Open access
Semantic Scholar
Respiratory Failure in a Term Infant with Cis and Trans Mutations in ABCA3
Tara Jackson, D. Wegner, F. White, Aaron Hamvas +2 more
2015Journal of Perinatology15 citations Open access
Semantic Scholar
Genetic variant characterization in intron 4 of the surfactant protein B gene
A. Hamvas, D. Wegner, M. Trusgnich, K. Madden +6 more
2005Human Mutation14 citations Open access
Semantic Scholar
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
Marie Morimoto, V. Bhambhani, Nour Gazzaz, M. Davids +274 more
2023npj Genomic Medicine12 citations Open access
Semantic Scholar
Population-based frequency of surfactant dysfunction mutations in a native Chinese cohort
Yu-Jun Chen, J. Wambach, Kelcey Depass, D. Wegner +5 more
2016World Journal of Pediatrics12 citations
Semantic Scholar
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Zelha Nil, A. Deshwar, Yan Huang, Scott Barish +31 more
2023American Journal of Human Genetics11 citations Open access
Semantic Scholar
Novel exon-skipping variant disrupting the basic domain of HCFC1 causes intellectual disability without metabolic abnormalities in both male and female patients
Parith Wongkittichote, D. Wegner, M. Shinawi
2021Journal of Human Genetics11 citations
Semantic Scholar
Discovery of a Novel CHD7 CHARGE Syndrome Variant by Integrated Omics Analyses
J. Granadillo, D. Wegner, A. Paul, M. Willing +6 more
2020American Journal of Medical Genetics. Part A10 citations Open access
Semantic Scholar
De novo variants in DENND5B cause a neurodevelopmental disorder
M. Scala, Valeria Tomati, Matteo P. Ferla, Mariateresa Lena +282 more
2024American Journal of Human Genetics9 citations Open access
Semantic Scholar
Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2)
Kristen Rosano, D. Wegner, M. Shinawi, Dustin Baldridge +10 more
2021American Journal of Medical Genetics. Part A9 citations Open access
Semantic Scholar
Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency
Kathryn K. Xu, D. Wegner, Lucille C. Geurts, H. Heins +6 more
2022Pediatric Pulmonology8 citations Open access
Semantic Scholar
Participation in a national diagnostic research study: assessing the patient experience
Lindsay E Rosenfeld, Kimberly Leblanc, Anna Nagy, Braeden K. Ego +259 more
2023Orphanet Journal of Rare Diseases5 citations Open access
Semantic Scholar
De novo variants in the PSMC3 proteasome AAA-ATPase subunit gene cause neurodevelopmental disorders associated with type I interferonopathies.
F. Ebstein, S. Küry, V. Most, C. Rosenfelt +67 more
2021medRxiv4 citations Open access
Semantic Scholar
26-OR: Digenic FGFR1/KLB Variants Associated with Endocrine Specific FGF-21 Signaling Defects and Extreme Insulin Resistance
Stephen I. Stone, D. Wegner, J. Wambach, F. Cole +2 more
2019Diabetes3 citations
Semantic Scholar
Gene variants of the phosphatidylcholine synthesis pathway do not contribute to RDS in the Chinese population
Yu-Jun Chen, J. Meyer, Jennifer A. Wambach, Kelcey Depass +6 more
2018World Journal of Pediatrics3 citations
Semantic Scholar
Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure.
Jennifer A. Wambach, D. Wegner, J. Kitzmiller, F. White +16 more
2024American Journal of Respiratory Cell and Molecular Biology2 citations Open access
Semantic Scholar
Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities
Matthew J. Moulton, Kristhen Atala, Yi-Ming Zheng, Debdeep Dutta +15 more
2024Genetics in Medicine2 citations
Semantic Scholar
Lentiviral-mediated gene complementation to rescue pathogenic ABCA3 variants
Ashley L. Cooney, S. Lamer, Ping Yang, D. Wegner +9 more
2026American Journal of Respiratory Cell and Molecular Biology1 citations Open access
Semantic Scholar
Enriched phenotypes in rare variant carriers suggest pathogenic mechanisms in rare disease patients
Lane Fitzsimmons, M. T. Acosta, David R. Adams, Ben Afzali +248 more
2025BioData Mining1 citations Open access
Semantic Scholar
Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B
L. Viehl, D. Wegner, S. Hmiel, F. White +3 more
2022Pediatric nephrology (Berlin, West)1 citations Open access
Semantic Scholar
Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD)
Sofia Luna, D. Wegner, S. Gale, Ping Yang +6 more
2021Journal of Steroid Biochemistry and Molecular Biology1 citations Open access
Semantic Scholar
[Pulmonary surfactant associated gene variants in mixed ethnic population of Han and Zhuang].
Yu-Jun Chen, Shao-Ke Chen, Kelcey Depass, D. Wegner +5 more
2012Zhonghua er ke za zhi = Chinese journal of pediatrics1 citations
Semantic Scholar
Rare Damaging Variants In The Surfactant Protein-C And ABCA3 Genes In Adult Patients With Idiopathic Pulmonary Fibrosis
S. Mohamed, L. Morrison, H. Heins, Jessica L. Record +6 more
2011Asian Test Symposium1 citations
Semantic Scholar
Lentiviral-mediated gene complementation rescues pathogenic ABCA3 variants
Ashley L. Cooney, S. Lamer, Ping Yang, D. Wegner +9 more
2025bioRxiv0 citations Open access
Semantic Scholar
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants
Jinfeng Lu, Camilo Toro, David R. Adams, Maria T. Acosta +263 more
2024BMC Genomics0 citations Open access
Semantic Scholar

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Jennifer A. Wambach×9

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