Koboldt, Daniel C.: search on Z-Library

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1

Comprehensive molecular portraits of human breast tumours

Koboldt, Daniel C., Fulton, Robert S., McLellan, Michael D., Schmidt, Heather, Kalicki-Veizer, Joelle, McMichael, Joshua F., Fulton, Lucinda L., Dooling, David J., Ding, Li, Mardis, Elaine R., Wilson,

Journal:

Year:

2012

Language:

english

File:

PDF, 1.18 MB

english, 2012

2

The Next-Generation Sequencing Revolution and Its Impact on Genomics

Koboldt, Daniel C., Steinberg, Karyn Meltz, Larson, David E., Wilson, Richard K., Mardis, Elaine R.

Journal:

Year:

2013

Language:

english

File:

PDF, 665 KB

english, 2013

3

Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome

Mardis, Elaine R., Ding, Li, Dooling, David J., Larson, David E., McLellan, Michael D., Chen, Ken, Koboldt, Daniel C., Fulton, Robert S., Delehaunty, Kim D., McGrath, Sean D., Fulton, Lucinda A., Lock

Journal:

Boston Medical and Surgical Journal

Year:

2009

Language:

english

File:

PDF, 323 KB

english, 2009

4

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

Zhan, Xiaowei, Larson, David E, Wang, Chaolong, Koboldt, Daniel C, Sergeev, Yuri V, Fulton, Robert S, Fulton, Lucinda L, Fronick, Catrina C, Branham, Kari E, Bragg-Gresham, Jennifer, Jun, Goo, Hu, You

Journal:

Nature Genetics

Year:

2013

Language:

english

File:

PDF, 578 KB

english, 2013

5

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

Sullivan, Lori S., Bowne, Sara J., Koboldt, Daniel C., Cadena, Elizabeth L., Heckenlively, John R., Branham, Kari E., Wheaton, Dianna H., Jones, Kaylie D., Ruiz, Richard S., Pennesi, Mark E., Yang, Pa

Journal:

Investigative Opthalmology & Visual Science

Year:

2017

Language:

english

File:

PDF, 1.19 MB

english, 2017

6

A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge-Ropers syndrome

Koboldt, Daniel C, Mihalic Mosher, Theresa, Kelly, Benjamin J, Sites, Emily, Bartholomew, Dennis, Hickey, Scott E, McBride, Kim, Wilson, Richard K, White, Peter

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 3.65 MB

english, 2018

7

The genotypic and phenotypic spectrum of BICD2 variants in spinal muscular atrophy

Koboldt, Daniel C., Waldrop, Megan A., Wilson, Richard K., Flanigan, Kevin M.

Journal:

Annals of Neurology

Year:

2020

File:

PDF, 1.43 MB

2020

8

Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes

Graubert, Timothy A, Shen, Dong, Ding, Li, Okeyo-Owuor, Theresa, Lunn, Cara L, Shao, Jin, Krysiak, Kilannin, Harris, Christopher C, Koboldt, Daniel C, Larson, David E, McLellan, Michael D, Dooling, Da

Journal:

Nature Genetics

Year:

2011

Language:

english

File:

PDF, 540 KB

english, 2011

9

Exome-Based Mapping and Variant Prioritization for Inherited Mendelian Disorders

Koboldt, Daniel C., Larson, David E., Sullivan, Lori S., Bowne, Sara J., Steinberg, Karyn M., Churchill, Jennifer D., Buhr, Aimee C., Nutter, Nathan, Pierce, Eric A., Blanton, Susan H., Weinstock, Geo

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.58 MB

english, 2014

10

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence CS, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren,

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 67 KB

english, 2011

11

Disease-Associated Mosaic Variation in Clinical Exome Sequencing: A Two Year Pediatric Tertiary Care Experience

Miller, Cecelia R, Lee, Kristy, Pfau, Ruthann B, Reshmi, Shalini C, Corsmeier, Donald J, Hashimoto, Sayaka, Dave-Wala, Ashita, Jayaraman, Vijayakumar, Koboldt, Daniel C, Matthews, Theodora, Mouhlas, D

Journal:

Molecular Case Studies

Year:

2020

File:

PDF, 610 KB

2020

12

Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci

Leslie, Elizabeth J., Taub, Margaret A., Liu, Huan, Steinberg, Karyn Meltz, Koboldt, Daniel C., Zhang, Qunyuan, Carlson, Jenna C., Hetmanski, Jacqueline B., Wang, Hang, Larson, David E., Fulton, Rober

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 2.70 MB

english, 2015

13

Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting

Matsushita, Hirokazu, Vesely, Matthew D., Koboldt, Daniel C., Rickert, Charles G., Uppaluri, Ravindra, Magrini, Vincent J., Arthur, Cora D., White, J. Michael, Chen, Yee-Shiuan, Shea, Lauren K.

Journal:

Year:

2012

Language:

english

File:

PDF, 557 KB

english, 2012

14

Comparative analysis of the domestic cat genome reveals genetic signatures underlying feline biology and domestication

Montague, Michael J., Li, Gang, Gandolfi, Barbara, Khan, Razib, Aken, Bronwen L., Searle, Steven M. J., Minx, Patrick, Hillier, LaDeana W., Koboldt, Daniel C., Davis, Brian W., Driscoll, Carlos A., Ba

Journal:

Proceedings of the National Academy of Sciences

Year:

2014

Language:

english

File:

PDF, 1.22 MB

english, 2014

15

Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing

Ding, Li, Ley, Timothy J., Larson, David E., Miller, Christopher A., Koboldt, Daniel C., Welch, John S., Ritchey, Julie K., Young, Margaret A., Lamprecht, Tamara, McLellan, Michael D., McMichael, Josh

Journal:

Year:

2012

Language:

english

File:

PDF, 1.35 MB

english, 2012

16

An ensemble approach to accurately detect somatic mutations using SomaticSeq

Fang, Li Tai, Afshar, Pegah Tootoonchi, Chhibber, Aparna, Mohiyuddin, Marghoob, Fan, Yu, Mu, John C., Gibeling, Greg, Barr, Sharon, Asadi, Narges Bani, Gerstein, Mark B., Koboldt, Daniel C., Wang, Wen

Journal:

Year:

2015

Language:

english

File:

PDF, 1.15 MB

english, 2015

17

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma

Schieffer, Kathleen M., Varga, Elizabeth, Miller, Katherine E., Agarwal, Vibhuti, Koboldt, Daniel C., Brennan, Patrick, Kelly, Benjamin, Dave-Wala, Ashita, Pierson, Christopher R., Finlay, Jonathan L.

Journal:

European Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 1.86 MB

english, 2019

18

Early-onset Wilson disease caused by ATP7B exon skipping associated with intronic variant

Koboldt, Daniel C., Hickey, Scott E., Chaudhari, Bimal P., Mihalic Mosher, Theresa, Bedrosian, Tracy, Crist, Erin, Kaler, Stephen G., McBride, Kim, White, Peter, Wilson, Richard K.

Journal:

Molecular Case Studies

Year:

2020

File:

PDF, 3.79 MB

2020

19

Integrated analysis of germline and somatic variants in ovarian cancer

Kanchi, Krishna L., Johnson, Kimberly J., Lu, Charles, McLellan, Michael D., Leiserson, Mark D. M., Wendl, Michael C., Zhang, Qunyuan, Koboldt, Daniel C., Xie, Mingchao, Kandoth, Cyriac, McMichael, Jo

Journal:

Nature Communications

Year:

2014

Language:

english

File:

PDF, 1001 KB

english, 2014

20

Genomic profiling of murine mammary tumors identifies potential personalized drug targets for p53-deficient mammary cancers

Pfefferle, Adam D., Agrawal, Yash N., Koboldt, Daniel C., Kanchi, Krishna L., Herschkowitz, Jason I., Mardis, Elaine R., Rosen, Jeffrey M., Perou, Charles M.

Journal:

Disease Models & Mechanisms

Year:

2016

Language:

english

File:

PDF, 3.34 MB

english, 2016

21

Identification of Disease-Causing Mutations in Autosomal Dominant Retinitis Pigmentosa (adRP) Using Next-Generation DNA Sequencing

Bowne, Sara J., Sullivan, Lori S., Koboldt, Daniel C., Ding, Li, Fulton, Robert, Abbott, Rachel M., Sodergren, Erica J., Birch, David G., Wheaton, Dianna H., Heckenlively, John R., Liu, Qin, Pierce, E

Journal:

Investigative Ophthalmology & Visual Science

Year:

2011

Language:

english

File:

PDF, 898 KB

english, 2011

22

Mutations in PLS1 , encoding fimbrin, cause autosomal dominant non‐syndromic hearing loss

Morgan, Anna, Koboldt, Daniel C., Barrie, Elizabeth S., Crist, Erin R., García, Gema García, Mezzavilla, Massimo, Faletra, Flavio, Mosher, Theresa Mihalic, Wilson, Richard K., Blanchet, Catherine, Man

Journal:

Year:

2019

Language:

english

File:

PDF, 523 KB

english, 2019

23

Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue

Miller, Katherine E., Koboldt, Daniel C., Schieffer, Kathleen M., Bedrosian, Tracy A., Crist, Erin, Sheline, Adrienne, Leraas, Kristen, Magrini, Vincent, Zhong, Huachun, Brennan, Patrick, Bush, Jocely

Journal:

Neurology: Genetics

Year:

2020

File:

PDF, 799 KB

2020

24

The Immunogenetics of Smallpox Vaccination

Stanley, Jr., Samuel L., Frey, Sharon E., Taillon‐Miller, Patricia, Guo, Jianhua, Miller, Raymond D., Koboldt, Daniel C., Elashoff, Michael, Christensen, Ryan, Saccone, Nancy L., Belshe, Robert B.

Journal:

The Journal of Infectious Diseases

Year:

2007

Language:

english

File:

PDF, 118 KB

english, 2007

25

Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios

Xiao, Yanzi, Taub, Margaret A., Ruczinski, Ingo, Begum, Ferdouse, Hetmanski, Jacqueline B., Schwender, Holger, Leslie, Elizabeth J., Koboldt, Daniel C., Murray, Jeffrey C., Marazita, Mary L., Beaty, T

Journal:

Genetic Epidemiology

Year:

2017

Language:

english

File:

PDF, 298 KB

english, 2017

26

Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2

Abreu, Nicolas J., Koboldt, Daniel C., Gastier‐Foster, Julie M., Dave‐Wala, Ashita, Flanigan, Kevin M., Waldrop, Megan A.

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 787 KB

2019

27

Clonal Architecture of Secondary Acute Myeloid Leukemia

Walter, Matthew J., Shen, Dong, Ding, Li, Shao, Jin, Koboldt, Daniel C., Chen, Ken, Larson, David E., McLellan, Michael D., Dooling, David, Abbott, Rachel, Fulton, Robert, Magrini, Vincent, Schmidt, H

Journal:

Boston Medical and Surgical Journal

Year:

2012

Language:

english

File:

PDF, 683 KB

english, 2012

28

DNA defects, epigenetics, and gene expression in cancer-adjacent breast: a study from The Cancer Genome Atlas

Troester, Melissa A, Hoadley, Katherine A, D’Arcy, Monica, Cherniack, Andrew D, Stewart, Chip, Koboldt, Daniel C, Robertson, A Gordon, Mahurkar, Swapna, Shen, Hui, Wilkerson, Matthew D, Sandhu, Rupnin

Journal:

npj Breast Cancer

Year:

2016

Language:

english

File:

PDF, 1.81 MB

english, 2016

29

The Origin and Evolution of Mutations in Acute Myeloid Leukemia

John S. Welch, Timothy J. Ley, Daniel C. Link, Christopher A. Miller, David E. Larson, Daniel C. Koboldt, Lukas D. Wartman, Tamara L. Lamprecht, Fulu Liu, Jun Xia, Cyriac Kandoth, Robert S. Fulton, Mi

Journal:

Year:

2012

Language:

english

File:

PDF, 5.50 MB

english, 2012

30

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

Bowne, Sara J, Humphries, Marian M, Sullivan, Lori S, Kenna, Paul F, Tam, Lawrence C S, Kiang, Anna S, Campbell, Matthew, Weinstock, George M, Koboldt, Daniel C, Ding, Li, Fulton, Robert S, Sodergren,

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 641 KB

english, 2011

31

Whole genome analyses reveal no pathogenetic single nucleotide or structural differences between monozygotic twins discordant for amyotrophic lateral sclerosis

Meltz Steinberg, Karyn, Nicholas, Thomas J., Koboldt, Daniel C., Yu, Bing, Mardis, Elaine, Pamphlett, Roger

Journal:

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Year:

2015

Language:

english

File:

PDF, 696 KB

english, 2015

32

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS

Steinberg, Karyn Meltz, Yu, Bing, Koboldt, Daniel C., Mardis, Elaine R., Pamphlett, Roger

Journal:

Scientific Reports

Year:

2015

Language:

english

File:

PDF, 440 KB

english, 2015

33

Novel in-frame FLNB deletion causes Larsen syndrome in a three-generation pedigree

Hickey, Scott E., Koboldt, Daniel C., Mosher, Theresa Mihalic, Brennan, Patrick, Schmalz, Beth A., Crist, Erin, McBride, Kim L., Adler, Brent H., White, Peter, Wilson, Richard K.

Journal:

Molecular Case Studies

Year:

2019

File:

PDF, 1.72 MB

2019

34

Caenorhabditis briggsae Recombinant Inbred Line Genotypes Reveal Inter-Strain Incompatibility and the Evolution of Recombination

Ross, Joseph A., Koboldt, Daniel C., Staisch, Julia E., Chamberlin, Helen M., Gupta, Bhagwati P., Miller, Raymond D., Baird, Scott E., Haag, Eric S., Kruglyak, Leonid

Journal:

Year:

2011

Language:

english

File:

PDF, 1.22 MB

english, 2011

35

Inframe de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis

Koboldt, Daniel C, Kastury, Rama, Waldrop, Megan A, Kelly, Benjamin J, Mihalic Mosher, Theresa, McLaughlin, Heather, Corsmeier, Don, Slaughter, Jonathan L, Flanigan, Kevin M, McBride, Kim L, Mehta, La

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 341 KB

english, 2018

36

A toolkit for rapid gene mapping in the nematodeCaenorhabditis briggsae

Daniel C Koboldt, Julia Staisch, Bavithra Thillainathan, Karen Haines, Scott E Baird, Helen M Chamberlin, Eric S Haag, Raymond D Miller, Bhagwati P Gupta

Journal:

Year:

2010

Language:

english

File:

PDF, 1.60 MB

english, 2010

37

Genome sequencing identifies somatic BRAF duplication c.1794_1796dupTAC;p.Thr599dup in pediatric patient with low-grade ganglioglioma

Miller, Katherine E, Kelly, Benjamin, Fitch, James, Ross, Nicole, Avenarius, Matthew R, Varga, Elizabeth, Koboldt, Daniel C, Boue, Daniel R, Magrini, Vincent, Coven, Scott L, Finlay, Jonathan L, Cottr

Journal:

Molecular Case Studies

Year:

2018

Language:

english

File:

PDF, 695 KB

english, 2018

38

Alzheimer's disease: rare variants with large effect sizes

Del-Aguila, Jorge L, Koboldt, Daniel C, Black, Kathleen, Chasse, Rachel, Norton, Joanne, Wilson, Richard K, Cruchaga, Carlos

Journal:

Current Opinion in Genetics & Development

Year:

2015

Language:

english

File:

PDF, 364 KB

english, 2015

39

Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia

Mihalic Mosher, Theresa, Zygmunt, Deborah A., Koboldt, Daniel C., Kelly, Benjamin J., Johnson, Lisa R., McKenna, David S., Hood, Benjamin C., Hickey, Scott E., White, Peter, Wilson, Richard K., Martin

Journal:

European Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 2.41 MB

english, 2019

40

Best practices for variant calling in clinical sequencing

Koboldt, Daniel C.

Journal:

Genome Medicine

Year:

2020

File:

PDF, 1.75 MB

2020

41

Distribution of human SNPs and its effect on high-throughput genotyping

Daniel C. Koboldt, Raymond D. Miller, Pui-Yan Kwok

Journal:

Year:

2006

Language:

english

File:

PDF, 387 KB

english, 2006

42

Re-sequencing Expands Our Understanding of the Phenotypic Impact of Variants at GWAS Loci

Service, Susan K., Teslovich, Tanya M., Fuchsberger, Christian, Ramensky, Vasily, Yajnik, Pranav, Koboldt, Daniel C., Larson, David E., Zhang, Qunyuan, Lin, Ling, Welch, Ryan, Ding, Li, McLellan, Mich

Journal:

Year:

2014

Language:

english

File:

PDF, 558 KB

english, 2014

43

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma

Schieffer, Kathleen M., Varga, Elizabeth, Miller, Katherine E., Agarwal, Vibhuti, Koboldt, Daniel C., Brennan, Patrick, Kelly, Benjamin, Dave-Wala, Ashita, Pierson, Christopher R., Finlay, Jonathan L.

Journal:

European Journal of Medical Genetics

Year:

2019

File:

PDF, 1.86 MB

2019

44

Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy

CognÃ©, Benjamin, Latypova, Xenia, Senaratne, Lokuliyanage Dona Samudita, Martin, Ludovic, Koboldt, Daniel C., Kellaris, Georgios, Fievet, Lorraine, Le Meur, GuylÃ¨ne, Caldari, Dominique, Debray, Domi

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 2.32 MB

2020

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