Daniel C. Koboldt

42.5k total citations · 4 hit papers
54 papers, 8.1k citations indexed

About

Daniel C. Koboldt is a scholar working on Molecular Biology, Genetics and Cancer Research. According to data from OpenAlex, Daniel C. Koboldt has authored 54 papers receiving a total of 8.1k indexed citations (citations by other indexed papers that have themselves been cited), including 37 papers in Molecular Biology, 25 papers in Genetics and 17 papers in Cancer Research. Recurrent topics in Daniel C. Koboldt's work include Genomics and Rare Diseases (14 papers), Cancer Genomics and Diagnostics (13 papers) and Genomics and Phylogenetic Studies (10 papers). Daniel C. Koboldt is often cited by papers focused on Genomics and Rare Diseases (14 papers), Cancer Genomics and Diagnostics (13 papers) and Genomics and Phylogenetic Studies (10 papers). Daniel C. Koboldt collaborates with scholars based in United States, Australia and Canada. Daniel C. Koboldt's co-authors include Elaine R. Mardis, Richard K. Wilson, David E. Larson, Li Ding, Michael D. McLellan, Qunyuan Zhang, Dong Shen, Christopher A. Miller, Ling Lin and Todd Wylie and has published in prestigious journals such as Nature, Cell and Blood.

In The Last Decade

Daniel C. Koboldt

51 papers receiving 8.0k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

2012 3.1k citations Daniel C. Koboldt, Qunyuan Zhang et al. Genome Research profile →
Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting

2012 932 citations Daniel C. Koboldt, Vincent Magrini et al. profile →
VarScan: variant detection in massively parallel sequencing of individual and pooled samples

2009 917 citations Daniel C. Koboldt, Ken Chen et al. Bioinformatics profile →
The Next-Generation Sequencing Revolution and Its Impact on Genomics

2013 665 citations Daniel C. Koboldt, Karyn Meltz Steinberg et al. profile →

Peers

Countries citing papers authored by Daniel C. Koboldt

Since Specialization

Citations

This map shows the geographic impact of Daniel C. Koboldt's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Daniel C. Koboldt with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Daniel C. Koboldt more than expected).

Fields of papers citing papers by Daniel C. Koboldt

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Daniel C. Koboldt. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Daniel C. Koboldt. The network helps show where Daniel C. Koboldt may publish in the future.

Co-authorship network of co-authors of Daniel C. Koboldt

This figure shows the co-authorship network connecting the top 25 collaborators of Daniel C. Koboldt. A scholar is included among the top collaborators of Daniel C. Koboldt based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Daniel C. Koboldt. Daniel C. Koboldt is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome 2024 ·Human Genetics and Genomics Advances ·Swetha Ramadesikan, (unknown), (unknown), Allison C. Daley, Liz Varga, Gurusamy Umamaheswaran, Matthew Pastore, Emily Sites, (unknown), Dennis W. Bartholomew, Jesse M. Hunter, Peter D. White, Richard K. Wilson, Rolf W. Stottmann, Daniel C. Koboldt	1
2	Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder 2022 ·Molecular Case Studies ·Jesse M. Hunter, Lauren Massingham, Kandamurugu Manickam, Dennis Bartholomew, (unknown), (unknown), (unknown), (unknown), Emily de los Reyes, Shalini C. Reshmi, Catherine E. Cottrell, Richard K. Wilson, Daniel C. Koboldt	10
3	Novel Presentation of Hemiplegic Migraine in a Patient With Cockayne Syndrome 2022 ·Pediatric Neurology ·(unknown), (unknown), Daniel C. Koboldt, (unknown), (unknown), Richard K. Wilson, Warren Lo	3
4	De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy 2022 ·Molecular Case Studies ·(unknown), Daniel C. Koboldt, (unknown), Scott E. Hickey, (unknown), (unknown), Adam P. Ostendorf, Kristy Lee, Peter White, Richard K. Wilson	6
5	Maternal mosaicism for a missense variant in the SMS gene that causes Snyder–Robinson syndrome 2021 ·Molecular Case Studies ·(unknown), Scott E. Hickey, Katherine E. Miller, (unknown), Kathleen M. Schieffer, (unknown), David Gordon, (unknown), Theresa Mihalic Mosher, Peter White, Daniel C. Koboldt, Richard K. Wilson	1
6	Polymerase Gamma Mitochondrial DNA Depletion Syndrome Initially Presenting as Disproportionate Respiratory Distress in a Moderately Premature Neonate: A Case Report 2021 ·Frontiers in Genetics ·(unknown), Bimal P. Chaudhari, Daniel C. Koboldt, (unknown)	3
7	Best practices for variant calling in clinical sequencing 2020 ·Genome Medicine ·Daniel C. Koboldt	192
8	Mutations in PLS1 , encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss 2019 ·Human Mutation ·Anna Morgan, Daniel C. Koboldt, Elizabeth S. Barrie, (unknown), Gema García‐García, Massimo Mezzavilla, Flavio Faletra, Theresa Mihalic Mosher, Richard K. Wilson, Catherine Blanchet, Kandamurugu Manickam, Anne‐Françoise Roux, Paolo Gasparini, Daniele Dell’Orco, Giorgia Girotto	15
9	Identification of Rare Variants Predisposing to Thyroid Cancer 2019 ·Thyroid ·Yanqiang Wang, Sandya Liyanarachchi, Katherine E. Miller, Taina T. Nieminen, Daniel F. Comiskey, Wei Li, Pamela Brock, David E. Symer, Keiko Akagi, (unknown), Huiling He, Daniel C. Koboldt, Albert de la Chapelle	35
10	A Novel Dominant Mutation in SAG , the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States 2017 ·Investigative Ophthalmology & Visual Science ·Lori S. Sullivan, Sara J. Bowne, Daniel C. Koboldt, (unknown), John R. Heckenlively, Kari Branham, Dianna H. Wheaton, Kaylie Webb-Jones, Robert R. German, Mark E. Pennesi, Paul Yang, David Davis-Boozer, Hope Northrup, (unknown), Rui Chen, Mingchu Xu, Yumei Li, David G. Birch, Stephen P. Daiger	26
11	Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis 2015 ·Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration ·Karyn Meltz Steinberg, T. Nicholas, Daniel C. Koboldt, Bing Yu, Elaine R. Mardis, Roger Pamphlett	19
12	A novel locus for autosomal dominant retinitis pigmentosa (adRP) on chromosome 19q13 2014 ·Investigative Ophthalmology & Visual Science ·Stephen P. Daiger, Jennifer D. Churchill, Sara J. Bowne, Lori S. Sullivan, Susan H. Blanton, Daniel C. Koboldt, George M. Weinstock, Dianna K. Wheaton, David G. Birch	0
13	Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders 2014 ·The American Journal of Human Genetics ·Daniel C. Koboldt, David E. Larson, Lori S. Sullivan, Sara J. Bowne, Karyn Meltz Steinberg, Jennifer D. Churchill, (unknown), (unknown), Eric A. Pierce, Susan H. Blanton, George M. Weinstock, Richard K. Wilson, Stephen P. Daiger	30
14	Variant prioritization and linkage mapping using whole-exome sequencing data for families with autosomal dominant retinitis pigmentosa (adRP) 2013 ·Investigative Ophthalmology & Visual Science ·Daniel C. Koboldt, David E. Larson, Lori S. Sullivan, Sara J. Bowne, Robert S. Fulton, Erica Sodergren, Susan H. Blanton, Stephen P. Daiger, Richard K. Wilson, George M. Weinstock	1
15	MuSiC: Identifying mutational significance in cancer genomes 2012 ·Genome Research ·Nathan D. Dees, Qunyuan Zhang, Cyriac Kandoth, Michael C. Wendl, William Schierding, Daniel C. Koboldt, Thomas B. Mooney, (unknown), David J. Dooling, Elaine R. Mardis, Richard K. Wilson, Li Ding	420
16	VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing breakdown → 2012 ·Genome Research ·Daniel C. Koboldt, Qunyuan Zhang, David E. Larson, Dong Shen, Michael D. McLellan, Ling Lin, Christopher A. Miller, Elaine R. Mardis, Li Ding, Richard K. Wilson	3093
17	Massively Parallel Sequencing Approaches for Characterization of Structural Variation 2011 ·Methods in molecular biology ·Daniel C. Koboldt, David E. Larson, Ken Chen, Li Ding, Richard K. Wilson	35
18	Next-generation sequencing identifies the natural killer cell microRNA transcriptome 2010 ·Genome Research ·Todd A. Fehniger, Todd Wylie, Elizabeth Germino, Jeffrey Leong, Vincent Magrini, Sunita Koul, Catherine R. Keppel, Stephanie Schneider, Daniel C. Koboldt, Ryan P. Sullivan, Michael Heinz, Seth D. Crosby, Rakesh Nagarajan, Giridharan Ramsingh, Daniel C. Link, Timothy J. Ley, Elaine R. Mardis	120
19	VarScan: variant detection in massively parallel sequencing of individual and pooled samples breakdown → 2009 ·Bioinformatics ·Daniel C. Koboldt, Ken Chen, Todd Wylie, David E. Larson, Michael D. McLellan, Elaine R. Mardis, George M. Weinstock, Richard K. Wilson, Li Ding	917
20	Comparison of C. elegans and C. briggsae Genome Sequences Reveals Extensive Conservation of Chromosome Organization and Synteny 2007 ·PLoS Biology ·LaDeana Hillier, Raymond D. Miller, Scott E. Baird, Asif Chinwalla, Lucinda A. Fulton, Daniel C. Koboldt, R Waterston	134

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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