Krawitz, Peter: search on Z-Library

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1

Identifying facial phenotypes of genetic disorders using deep learning

Gurovich, Yaron, Hanani, Yair, Bar, Omri, Nadav, Guy, Fleischer, Nicole, Gelbman, Dekel, Basel-Salmon, Lina, Krawitz, Peter M., Kamphausen, Susanne B., Zenker, Martin, Bird, Lynne M., Gripp, Karen W.

Journal:

Nature Medicine

Year:

2019

Language:

english

File:

PDF, 1.34 MB

english, 2019

2

Host cell protein testing by ELISAs and the use of orthogonal methods

Zhu-Shimoni, Judith, Yu, Christopher, Nishihara, Julie, Wong, Robert M., Gunawan, Feny, Lin, Margaret, Krawitz, Denise, Liu, Peter, Sandoval, Wendy, Vanderlaan, Martin

Journal:

Biotechnology and Bioengineering

Year:

2014

Language:

english

File:

PDF, 6.16 MB

english, 2014

3

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

Carmody, Leigh C., Blau, Hannah, Danis, Daniel, Zhang, Xingman A., Gourdine, Jean-Philippe, Vasilevsky, Nicole, Krawitz, Peter, Thompson, Miles D., Robinson, Peter N.

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 2.38 MB

2020

4

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Lupiáñez, Darío G., Kraft, Katerina, Heinrich, Verena, Krawitz, Peter, Brancati, Francesco, Klopocki, Eva, Horn, Denise, Kayserili, Hülya, Opitz, John M., Laxova, Renata, Santos-Simarro, Fernando, Gil

Journal:

Year:

2015

Language:

english

File:

PDF, 3.57 MB

english, 2015

5

Use of animal models for exome prioritization of rare disease genes

Smedley, Damian, Kohler, Sebastian, Bone, William, Oellrich, Anika, Jacobsen, Jules, Wang, Kai, Mungall, Chris, Washington, Nicole, Bauer, Sebastian, Seelow, Dominic, Krawitz, Peter, Boerkel, Corneliu

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 285 KB

english, 2014

6

Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies

Sebastian Köhler, Marcel H. Schulz, Peter Krawitz, Sebastian Bauer, Sandra Dölken, Claus E. Ott, Christine Mundlos, Denise Horn, Stefan Mundlos, Peter N. Robinson

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 718 KB

english, 2009

7

Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

Malte Spielmann, Francesco Brancati, Peter M. Krawitz, Peter N. Robinson, Daniel M. Ibrahim, Martin Franke, Jochen Hecht, Silke Lohan, Katarina Dathe, Anna Maria Nardone, Paola Ferrari, Antonio Landi,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 876 KB

english, 2012

8

Entropy of complex relevant components of Boolean networks

Krawitz, Peter, Shmulevich, Ilya

Journal:

Physical Review E

Year:

2007

Language:

english

File:

PDF, 137 KB

english, 2007

9

Quality assurance audit in an Australasian phase III trial of accelerated radiotherapy for head and neck cancer (TROG 91.01)

Hamilton, C, Poulsen, M, Walker, Q, Krawitz, H, Hindley, A, Spry, N, Peters, L, Lamb, D, Denham, J, Steigler, A

Journal:

Australasian Radiology

Year:

1999

Language:

english

File:

PDF, 2.63 MB

english, 1999

10

Acute toxicity and cost analysis of a phase III randomized trial of accelerated and conventional radiotherapy for squamous carcinoma of the head and neck: A Trans-Tasman Radiation Oncology Group study

M Poulsen, J Denham, N Spry, D Lamb, L Peters, H Krawitz, M Penniment, S Williamson1, L Tripcony

Journal:

Journal of Medical Imaging and Radiation Oncology

Year:

1999

Language:

english

File:

PDF, 84 KB

english, 1999

11

Do acute mucosal reactions lead to consequential late reactions in patients with head and neck cancer?

James W. Denham, Lester J. Peters, Jorgan Johansen, Micheal Poulsen, David S. Lamb, Andrew Hindley, Peter C. O'Brien, Nigel A. Spry, Micheal Penniment, Hedley Krawitz, Stephen Williamson, Joelle Bear,

Journal:

Radiotherapy and Oncology

Year:

1999

Language:

english

File:

PDF, 131 KB

english, 1999

12

Klinisch-bioinformatische Analyse bei Intelligenzminderung; Clinical bioinformatics analysis in intellectual disability;

Journal:

medizinische genetik

Year:

2019

File:

PDF, 182 KB

2019

13

The effect of anaemia on efficacy and normal tissue toxicity following radiotherapy for locally advanced squamous cell carcinoma of the head and neck

Tiffany Daly, Michael G Poulsen, James W Denham, Lester J Peters, David S Lamb, Hedley Krawitz, Chris Hamilton, Jacqui Keller, Lee Tripcony, Quenten Walker

Journal:

Radiotherapy and Oncology

Year:

2003

Language:

english

File:

PDF, 282 KB

english, 2003

14

Challenges ahead for matchmaking

Krawitz, Peter M.

Journal:

it - Information Technology

Year:

2016

File:

PDF, 322 KB

2016

15

Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees

Kamphans, Tom, Sabri, Peggy, Zhu, Na, Heinrich, Verena, Mundlos, Stefan, Robinson, Peter N., Parkhomchuk, Dmitri, Krawitz, Peter M., Wang, Kai

Journal:

Year:

2013

Language:

english

File:

PDF, 866 KB

english, 2013

16

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

Krawitz, Peter M., Murakami, Yoshiko, Rieß, Angelika, Hietala, Marja, Krüger, Ulrike, Zhu, Na, Kinoshita, Taroh, Mundlos, Stefan, Hecht, Jochen, Robinson, Peter N., Horn, Denise

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 447 KB

english, 2013

17

Integrative analysis of key candidate genes and signaling pathways in autoimmune thyroid dysfunction related to anti-CTLA-4 therapy by bioinformatics

Zhang, Ying, Garofano, Francesca, Wu, Xiaolong, Schmid, Matthias, Krawitz, Peter, Essler, Markus, Schmidt-Wolf, Ingo G. H.

Journal:

Investigational New Drugs

Year:

2020

File:

PDF, 2.45 MB

2020

18

A likelihood ratio-based method to predict exact pedigrees for complex families from next-generation sequencing data

Heinrich, Verena, Kamphans, Tom, Mundlos, Stefan, Robinson, Peter N., Krawitz, Peter M.

Journal:

Year:

2016

Language:

english

File:

PDF, 421 KB

english, 2016

19

Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction

Spielmann, Malte, Hernandez-Miranda, Luis R, Ceccherini, Isabella, Weese-Mayer, Debra E, Kragesteen, Bjørt K, Harabula, Izabela, Krawitz, Peter, Birchmeier, Carmen, Leonard, Norma, Mundlos, Stefan

Journal:

Journal of Medical Genetics

Year:

2017

Language:

english

File:

PDF, 2.25 MB

english, 2017

20

Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism

Pantel, Jean T., Zhao, Max, Mensah, Martin A., Hajjir, Nurulhuda, Hsieh, Tzung-Chien, Hanani, Yair, Fleischer, Nicole, Kamphans, Tom, Mundlos, Stefan, Gurovich, Yaron, Krawitz, Peter M.

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 976 KB

english, 2018

21

A randomised trial of accelerated and conventional radiotherapy for stage III and IV squamous carcinoma of the head and neck: a Trans-Tasman Radiation Oncology Group Study

M.G Poulsen, J.W Denham, L.J Peters, D.S Lamb, N.A Spry, A Hindley, H Krawitz, C Hamilton, J Keller, L Tripcony, Q Walker

Journal:

Cancer/Radiothérapie

Year:

2002

Language:

french

File:

PDF, 24 KB

french, 2002

22

Estimating exome genotyping accuracy by comparing to data from large scale sequencing projects

Heinrich, Verena, Kamphans, Tom, Stange, Jens, Parkhomchuk, Dmitri, Hecht, Jochen, Dickhaus, Thorsten, Robinson, Peter N, Krawitz, Peter M

Journal:

Genome Medicine

Year:

2013

Language:

english

File:

PDF, 668 KB

english, 2013

23

VZV meningitis following varicella vaccine

Dahlene Fusco, Peter Krawitz, Philip LaRussa, Sharon Steinberg, Anne Gershon, Jonathan Jacobs

Journal:

Journal of Clinical Virology

Year:

2010

Language:

english

File:

PDF, 91 KB

english, 2010

24

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

Krawitz, Peter M, Schweiger, Michal R, Rödelsperger, Christian, Marcelis, Carlo, Kölsch, Uwe, Meisel, Christian, Stephani, Friederike, Kinoshita, Taroh, Murakami, Yoshiko, Bauer, Sebastian

Journal:

Nature Genetics

Year:

2010

Language:

english

File:

PDF, 334 KB

english, 2010

25

Platelet, erythrocyte, and fibrinogen kinetics in the hemolytic-uremic syndrome of infancy

Jack Katz, Selma Krawitz, Peter V. Sacks, Solomon E. Levin, Peter Thomson, Joseph Levin, Jack Metz

Journal:

The Journal of Pediatrics

Year:

1973

Language:

english

File:

PDF, 1.19 MB

english, 1973

26

P-351 Is tumor volume an independent prognostic factor in non-smallcell lung cancer (NSCLC) treated with radical radiotherapy? Interim analysis of the Trans-Tasman Radiation Oncology Group (TROG) database 99-05

Ball, D., Bryan, B., Peter, G., Penniment, M., Joseph, D., Poulsen, M., Krawitz, H., Wheeler, G., Fisher, R., McClure, B.

Journal:

Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

27

Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy

Roncarati, Roberta, Viviani Anselmi, Chiara, Krawitz, Peter, Lattanzi, Giovanna, von Kodolitsch, Yskert, Perrot, Andreas, di Pasquale, Elisa, Papa, Laura, Portararo, Paola, Columbaro, Marta, Forni, Al

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 1.04 MB

english, 2013

28

Stage Is Not a Reliable Indicator of Tumor Volume in Non-small Cell Lung Cancer: A Preliminary Analysis of the Trans-Tasman Radiation Oncology Group 99-05 Database

Ball, David L., Fisher, Richard, Burmeister, Bryan, Graham, Peter, Joseph, David, Penniment, Michael, Krawitz, Hedley, Wheeler, Greg, Poulsen, Michael, Vinod, Shalini, McClure, Bev

Journal:

Journal of Thoracic Oncology

Year:

2006

Language:

english

File:

PDF, 228 KB

english, 2006

29

Basin Entropy in Boolean Network Ensembles

Krawitz, Peter, Shmulevich, Ilya

Journal:

Physical Review Letters

Year:

2007

Language:

english

File:

PDF, 132 KB

english, 2007

30

Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome

Krawitz, Peter M., Schiska, Daniela, Krüger, Ulrike, Appelt, Sandra, Heinrich, Verena, Parkhomchuk, Dmitri, Timmermann, Bernd, Millan, Jose M., Robinson, Peter N., Mundlos, Stefan, Hecht, Jochen, Gros

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 153 KB

english, 2014

31

O-225 Tumor volume correlates poorly with disease stage in non-small cell lung cancer (NSCLC): preliminary analysis of the Trans-Tasman Radiation Oncology Group (TROG) 99-05 database

Ball, David, Burmeister, Bryan, Graham, Peter, Penniment, Michael, Joseph, David, Krawitz, Hedley, Fisher, Richard, McClure, Bev, Manus, Michael Mac

Journal:

Year:

2003

Language:

english

File:

PDF, 165 KB

english, 2003

32

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature

Ehmke, Nadja, Parvaneh, Nima, Krawitz, Peter, Ashrafi, Mahmoud-Reza, Karimi, Parviz, Mehdizadeh, Mehrzad, Krüger, Ulrike, Hecht, Jochen, Mundlos, Stefan, Robinson, Peter N.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 370 KB

english, 2014

33

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

Marchal, Juan Alberto, Ghani, Mahdi, Schindler, Detlev, Gavvovidis, Ioannis, Winkler, Tina, Esquitino, Veronique, Sternberg, Nadine, Busche, Andreas, Krawitz, Peter, Hecht, Joachim, Robinson, Peter, M

Journal:

Year:

2011

File:

PDF, 2.42 MB

2011

34

Juvenile arthritis caused by a novelFAMIN (LACC1)mutation in two children with systemic and extended oligoarticular course

Kallinich, Tilmann, Thorwarth, Anne, von Stuckrad, Sae-Lim, Rösen-Wolff, Angela, Luksch, Hella, Hundsdoerfer, Patrick, Minden, Kirsten, Krawitz, Peter

Journal:

Pediatric Rheumatology

Year:

2016

Language:

english

File:

PDF, 413 KB

english, 2016

35

HematologistâLevel Classification of Mature BâCell Neoplasm Using Deep Learning on Multiparameter Flow Cytometry Data

Zhao, Max, Mallesh, Nanditha, HÃ¶llein, Alexander, Schabath, Richard, Haferlach, Claudia, Haferlach, Torsten, Elsner, Franz, LÃ¼ling, Hannes, Krawitz, Peter, Kern, Wolfgang

Journal:

Cytometry Part A

Year:

2020

File:

PDF, 2.12 MB

2020

36

Disseminated oligodendroglial-like leptomeningeal tumor of childhood: a distinctive clinicopathologic entity

Fausto J. Rodriguez, Arie Perry, Marc K. Rosenblum, Sherry Krawitz, Kenneth J. Cohen, Doris Lin, Stacy Mosier, Ming-Tseh Lin, Charles G. Eberhart, Peter C. Burger

Journal:

Acta Neuropathologica

Year:

2012

Language:

english

File:

PDF, 2.75 MB

english, 2012

37

Strategies to improve the performance of rare variant association studies by optimizing the selection of controls

Zhu, Na, Heinrich, Verena, Dickhaus, Thorsten, Hecht, Jochen, Robinson, Peter N., Mundlos, Stefan, Kamphans, Tom, Krawitz, Peter M.

Journal:

Year:

2015

Language:

english

File:

PDF, 504 KB

english, 2015

38

CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

Jansen, Jos C., Cirak, Sebahattin, van Scherpenzeel, Monique, Timal, Sharita, Reunert, Janine, Rust, Stephan, Pérez, Belén, Vicogne, Dorothée, Krawitz, Peter, Wada, Yoshinao, Ashikov, Angel, Pérez-Cer

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 2.16 MB

english, 2016

39

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

Denise Horn, Peter Krawitz, Anca Mannhardt, Georg Christoph Korenke, Peter Meinecke

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 1.09 MB

english, 2011

40

A randomised trial of accelerated and conventional radiotherapy for stage III and IV squamous carcinoma of the head and neck: a Trans-Tasman Radiation Oncology Group Study

Michael G Poulsen, James W Denham, Lester J Peters, David S Lamb, Nigel A Spry, Andrew Hindley, Hedley Krawitz, Chris Hamilton, Jacqui Keller, Lee Tripcony, Quenten Walker

Journal:

Radiotherapy and Oncology

Year:

2001

Language:

english

File:

PDF, 359 KB

english, 2001

41

Jannovar: A Java Library for Exome Annotation

Jäger, Marten, Wang, Kai, Bauer, Sebastian, Smedley, Damian, Krawitz, Peter, Robinson, Peter N.

Journal:

Year:

2014

Language:

english

File:

PDF, 532 KB

english, 2014

42

Stage Is Not a Reliable Indicator of Tumor Volume in Non-small Cell Lung Cancer: A Preliminary Analysis of the Trans-Tasman Radiation Oncology Group 99-05 Database

Ball, David L., Fisher, Richard, Burmeister, Bryan, Graham, Peter, Joseph, David, Penniment, Michael, Krawitz, Hedley, Wheeler, Greg, Poulsen, Michael, Vinod, Shalini, McClure, Bev

Journal:

Journal of Thoracic Oncology

Year:

2006

Language:

english

File:

PDF, 366 KB

english, 2006

43

Comparison of Platform Host Cell Protein ELISA to Process-Specific Host Cell Protein ELISA

Gunawan, Feny, Nishihara, Julie, Liu, Peter, Sandoval, Wendy, Vanderlaan, Marty, Zhang, Heidi, Krawitz, Denise

Journal:

Biotechnology and Bioengineering

Year:

2017

Language:

english

File:

PDF, 2.02 MB

english, 2017

44

The complex relationship between lung tumor volume and survival in patients with non-small cell lung cancer treated by definitive radiotherapy: A prospective, observational prognostic factor study of the Trans-Tasman Radiation Oncology Group (TROG 99.05)

Ball, David L., Fisher, Richard J., Burmeister, Bryan H., Poulsen, Michael G., Graham, Peter H., Penniment, Michael G., Vinod, Shalini K., Krawitz, Hedley E., Joseph, David J., Wheeler, Greg C., McClu

Journal:

Radiotherapy and Oncology

Year:

2013

Language:

english

File:

PDF, 260 KB

english, 2013

45

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Kolanczyk, Mateusz, Krawitz, Peter, Hecht, Jochen, Hupalowska, Anna, Miaczynska, Marta, Marschner, Katrin, Schlack, Claire, Emmerich, Denise, Kobus, Karolina, Kornak, Uwe, Robinson, Peter N, Plecko, B

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.10 MB

english, 2015

46

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function

Zhao, Jin James, Halvardson, Jonatan, Knaus, Alexej, Georgii-Hemming, Patrik, Baeck, Peter, Krawitz, Peter M., Thuresson, Ann-Charlotte, Feuk, Lars

Journal:

Year:

2017

Language:

english

File:

PDF, 967 KB

english, 2017

47

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

Emmerich, Denise, Zemojtel, Tomasz, Hecht, Jochen, Krawitz, Peter, Spielmann, Malte, Kühnisch, Jirko, Kobus, Karolina, Osswald, Monika, Heinrich, Verena, Berlien, Peter, Müller, Ute, Mautner, Victor-F

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 205 KB

english, 2015

48

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

Peter M. Krawitz, Yoshiko Murakami, Jochen Hecht, Ulrike Krüger, Susan E. Holder, Geert R. Mortier, Barbara Delle Chiaie, Elfride De Baere, Miles D. Thompson, Tony Roscioli, Szymon Kielbasa, Taroh Kin

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 635 KB

english, 2012

49

Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly

Marchal, Juan Alberto, Ghani, Mahdi, Schindler, Detlev, Gavvovidis, Ioannis, Winkler, Tina, Esquitino, Veronique, Sternberg, Nadine, Busche, Andreas, Krawitz, Peter, Hecht, Joachim, Robinson, Peter, M

Journal:

Year:

2011

Language:

english

File:

PDF, 2.42 MB

english, 2011

50

103 Do acute mucosal reactions lead to consequential late reactions in patients with head and neck cancer?

J. Denham, L. Peters, J. Johansen, M. Poulsen, D. Lamb, A. Hindley, P. O'Brien, H. Krawitz, C. Hamilton, N. Spry, C. Wratten

Journal:

International Journal of Radiation Oncology*Biology*Physics

Year:

1999

Language:

english

File:

PDF, 136 KB

english, 1999

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