متابعة
Ewa A Bergmann (Grabowska)
Ewa A Bergmann (Grabowska)
Manager, Bioinformatics at Illumina
بريد إلكتروني تم التحقق منه على illumina.com
عنوان
عدد مرات الاقتباسات
عدد مرات الاقتباسات
السنة
The contribution of de novo coding mutations to autism spectrum disorder
I Iossifov, BJ O’roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ...
Nature 515 (7526), 216, 2014
25612014
De novo gene disruptions in children on the autistic spectrum
I Iossifov, M Ronemus, D Levy, Z Wang, I Hakker, J Rosenbaum, ...
Neuron 74 (2), 285-299, 2012
16502012
Indel variant analysis of short-read sequencing data with Scalpel
H Fang, EA Bergmann, K Arora, V Vacic, MC Zody, I Iossifov, JA O'Rawe, ...
Nature Protocols 11 (12), 2529-2548, 2016
1112016
Genome-wide somatic variant calling using localized colored de Bruijn graphs
G Narzisi, A Corvelo, K Arora, EA Bergmann, M Shah, R Musunuri, ...
Communications Biology 1 (1), 20, 2018
1022018
Genome-wide somatic variant calling using localized colored de Bruijn graphs
G Narzisi, A Corvelo, K Arora, EA Bergmann, M Shah, R Musunuri, ...
Communications Biology 1 (1), 20, 2018
1022018
Conpair: concordance and contamination estimator for matched tumor–normal pairs
EA Bergmann, BJ Chen, K Arora, V Vacic, MC Zody
Bioinformatics 32 (20), 3196-3198, 2016
672016
Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma
KO Wrzeszczynski, MO Frank, T Koyama, K Rhrissorrakrai, N Robine, ...
Neurology Genetics 3 (4), e164, 2017
442017
State MW, Wigler M
I Iossifov, BJ O'Roak, SJ Sanders, M Ronemus, N Krumm, D Levy, ...
The contribution of de novo coding mutations to autism spectrum disorder …, 2014
342014
Integrative genetic analysis of mouse and human AML identifies cooperating disease alleles
MA Hatlen, K Arora, V Vacic, EA Grabowska, W Liao, B Riley-Gillis, ...
Journal of Experimental Medicine 213 (1), 25-34, 2016
292016
A family with 3460G> A and 11778G> A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients
K Tonska, M Kurzawa, AM Ambroziak, M Korwin-Rujna, JP Szaflik, ...
Mitochondrion 8 (5-6), 383-388, 2008
252008
Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatments
MO Frank, T Koyama, K Rhrissorrakrai, N Robine, F Utro, AK Emde, ...
BMC medical genomics 12 (1), 1-1, 2019
102019
Sequencing and curation strategies for identifying candidate glioblastoma treatments
MO Frank, T Koyama, K Rhrissorrakrai, N Robine, F Utro, AK Emde, ...
BMC Medical Genomics 12 (1), 56, 2019
102019
Lancet: genome-wide somatic variant calling using localized colored DeBruijn graphs
G Narzisi, A Corvelo, K Arora, E Bergmann, M Shah, R Musunuri, ...
bioRxiv, 196311, 2017
42017
NYGC glioblastoma clinical outcomes pilot study: Discovering therapeutic potential in glioblastoma through integrative genomics
KO Wrzeszczynski, N Robine, V Vacic, AK Emde, BJ Chen, W Liao, ...
Cancer Research 76 (14 Supplement), 4497-4497, 2016
12016
RNA-Seq in the NYGC GBM Clinical Outcomes Pilot Study
BJR Chen, N Robine, K Wrzeszczynski, V Vacic, AK Emde, K Arora, ...
Cancer Research 76 (14 Supplement), 4498-4498, 2016
2016
Mutations References
I Iossifov, M Ronemus, D Levy, Z Wang, I Hakker, J Rosenbaum, ...
Neuron 74 (2), 285-99, 2012
2012
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مقالات 1–16