Manuel Holtgrewe: search on Z-Library

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1

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa

Vogt, Guido, El Choubassi, Naji, Herczegfalvi, Ãgnes, KÃ¶lbel, Heike, Lekaj, Anja, Schara, Ulrike, Holtgrewe, Manuel, Krause, Sabine, Horvath, Rita, Schuelke, Markus, HÃ¼bner, Christoph, Mundlos, Ste

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 1.25 MB

2020

2

Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases

Melo, UirÃ¡ Souto, SchÃ¶pflin, Robert, Acuna-Hidalgo, Rocio, Mensah, Martin Atta, Fischer-Zirnsak, BjÃ¶rn, Holtgrewe, Manuel, Klever, Marius-Konstantin, TÃ¼rkmen, Seval, Heinrich, Verena, Pluym, Ilina

Journal:

The American Journal of Human Genetics

Year:

2020

File:

PDF, 2.86 MB

2020

3

Digestiflow: from BCL to FASTQ with ease

Holtgrewe, Manuel, Messerschmidt, Clemens, Nieminen, Mikko, Beule, Dieter, Birol, Inanc

Journal:

Year:

2019

File:

PDF, 298 KB

2019

4

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Ehmke, Nadja, Cusmano-Ozog, Kristina, Koenig, Rainer, Holtgrewe, Manuel, Nur, Banu, Mihci, Ercan, Babcock, Holly, Gonzaga-Jauregui, Claudia, Overton, John D., Xiao, Jing, Martinez, Ariel, Muenke, Max,

Journal:

Year:

2020

File:

PDF, 4.62 MB

2020

5

Genome alignment with graph data structures: a comparison

Kehr, Birte, Trappe, Kathrin, Holtgrewe, Manuel, Reinert, Knut

Journal:

BMC Bioinformatics

Year:

2014

Language:

english

File:

PDF, 413 KB

english, 2014

6

Methods for the detection and assembly of novel sequence in high-throughput sequencing data

Holtgrewe, Manuel, Kuchenbecker, Leon, Reinert, Knut

Journal:

Year:

2015

Language:

english

File:

PDF, 163 KB

english, 2015

7

Identification and ranking of recurrent neo-epitopes in cancer

Blanc, Eric, Holtgrewe, Manuel, Dhamodaran, Arunraj, Messerschmidt, Clemens, Willimsky, Gerald, Blankenstein, Thomas, Beule, Dieter

Journal:

BMC Medical Genomics

Year:

2019

File:

PDF, 1.29 MB

2019

8

Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation

Holtgrewe, Manuel, Knaus, Alexej, Hildebrand, Gabriele, Pantel, Jean-Tori, Santos, Miguel Rodriguez de los, Neveling, Kornelia, Goldmann, Jakob, Schubach, Max, Jäger, Marten, Coutelier, Marie, Mundlos

Journal:

Scientific Reports

Year:

2018

Language:

english

File:

PDF, 847 KB

english, 2018

9

Next-generation diagnostics and disease-gene discovery with the Exomiser

Smedley, Damian, Jacobsen, Julius O B, Jäger, Marten, Köhler, Sebastian, Holtgrewe, Manuel, Schubach, Max, Siragusa, Enrico, Zemojtel, Tomasz, Buske, Orion J, Washington, Nicole L, Bone, William P, Ha

Journal:

Nature Protocols

Year:

2015

Language:

english

File:

PDF, 406 KB

english, 2015

10

A novel and well-defined benchmarking method for second generation read mapping

Manuel Holtgrewe, Anne-Katrin Emde, David Weese, Knut Reinert

Journal:

BMC Bioinformatics

Year:

2011

Language:

english

File:

PDF, 285 KB

english, 2011

11

Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition

Quade, Annegret, Thiel, Anne, Kurth, Ingo, Holtgrewe, Manuel, Elbracht, Miriam, Beule, Dieter, Eggermann, Katja, Scholl, Ute I., Häusler, Martin

Journal:

European Journal of Paediatric Neurology

Year:

2019

Language:

english

File:

PDF, 621 KB

english, 2019

12

Investigating APOE, APP-AÎ² metabolism genes and Alzheimerâs disease GWAS hits in brain small vessel ischemic disease

Blumenau, Sonja, Foddis, Marco, MÃ¼ller, Susanne, Holtgrewe, Manuel, Bentele, Kajetan, Berchtold, Daniel, Beule, Dieter, Dirnagl, Ulrich, Sassi, Celeste

Journal:

Scientific Reports

Year:

2020

File:

PDF, 2.10 MB

2020

13

Digestiflow: from BCL to FASTQ with ease

Holtgrewe, Manuel, Messerschmidt, Clemens, Nieminen, Mikko, Beule, Dieter, Birol, Inanc

Journal:

Year:

2019

Language:

english

File:

PDF, 298 KB

english, 2019

14

Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

Fountain, Michael D., Oleson, David S., Rech, Megan E., Segebrecht, Lara, Hunter, Jill V., McCarthy, John M., Lupo, Philip J., Holtgrewe, Manuel, Moran, Rocio, Rosenfeld, Jill A., Isidor, Bertrand, Le

Journal:

Genetics in Medicine

Year:

2019

File:

PDF, 1.57 MB

2019

15

An intronic splice site alteration in combination with a large deletion affecting VPS13B (COH1) causes Cohen syndrome

Boschann, Felix, Fischer-Zirnsak, BjÃ¶rn, Wienker, Thomas F., Holtgrewe, Manuel, Seelow, Dominik, Eichhorn, Birgit, DÃ¶hnert, Steffi, Fahsold, Raimund, Horn, Denise, Graul-Neumann, Luitgard M.

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 14.49 MB

2020

16

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3

Kühnisch, Jirko, Herbst, Christopher, Al‐Wakeel‐Marquard, Nadya, Dartsch, Josephine, Holtgrewe, Manuel, Baban, Anwar, Mearini, Giulia, Hardt, Juliane, Kolokotronis, Konstantinos, Gerull, Brenda, Carri

Journal:

Clinical Genetics

Year:

2019

Language:

english

File:

PDF, 2.15 MB

english, 2019

17

[IEEE 2010 IEEE International Symposium on Parallel & Distributed Processing (IPDPS) - Atlanta, GA, USA (2010.04.19-2010.04.23)] 2010 IEEE International Symposium on Parallel & Distributed Processing (IPDPS) - Engineering a scalable high quality graph partitioner

Holtgrewe, Manuel, Sanders, Peter, Schulz, Christian

Year:

2010

Language:

english

File:

PDF, 842 KB

english, 2010

18

Paroxysmal tonic upgaze: A heterogeneous clinical condition responsive to carbonic anhydrase inhibition

Quade, Annegret, Thiel, Anne, Kurth, Ingo, Holtgrewe, Manuel, Elbracht, Miriam, Beule, Dieter, Eggermann, Katja, Scholl, Ute I., Häusler, Martin

Journal:

European Journal of Paediatric Neurology

Year:

2019

File:

PDF, 621 KB

2019

19

HLA-MA: simple yet powerful matching of samples using HLA typing results

Messerschmidt, Clemens, Holtgrewe, Manuel, Beule, Dieter

Journal:

Year:

2017

Language:

english

File:

PDF, 64 KB

english, 2017

20

VarFish: comprehensive DNA variant analysis for diagnostics and research

Holtgrewe, Manuel, Stolpe, Oliver, Nieminen, Mikko, Mundlos, Stefan, Knaus, Alexej, Kornak, Uwe, Seelow, Dominik, Segebrecht, Lara, Spielmann, Malte, Fischer-Zirnsak, BjÃ¶rn, Boschann, Felix, Scholl,

Journal:

Nucleic Acids Research

Year:

2020

File:

PDF, 2.25 MB

2020

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