Krawitz PM - Search Results

1

Understanding recessive disease risk in multi-ethnic populations with different degrees of consanguinity.

La Rocca LA, Frank J, Bentzen HB, Pantel JT, Gerischer K, Bovier A, Krawitz PM. La Rocca LA, et al. Among authors: krawitz pm. Am J Med Genet A. 2024 Mar;194(3):e63452. doi: 10.1002/ajmg.a.63452. Epub 2023 Nov 3. Am J Med Genet A. 2024. PMID: 37921563

2

Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome.

Murakami Y, Kanzawa N, Saito K, Krawitz PM, Mundlos S, Robinson PN, Karadimitris A, Maeda Y, Kinoshita T. Murakami Y, et al. Among authors: krawitz pm. J Biol Chem. 2012 Feb 24;287(9):6318-25. doi: 10.1074/jbc.M111.331090. Epub 2012 Jan 6. J Biol Chem. 2012. PMID: 22228761 Free PMC article.

3

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome.

Horn D, Wieczorek D, Metcalfe K, Barić I, Paležac L, Cuk M, Petković Ramadža D, Krüger U, Demuth S, Heinritz W, Linden T, Koenig J, Robinson PN, Krawitz P. Horn D, et al. Eur J Hum Genet. 2014 Jun;22(6):762-7. doi: 10.1038/ejhg.2013.241. Epub 2013 Oct 16. Eur J Hum Genet. 2014. PMID: 24129430 Free PMC article.

4

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

Emmerich D, Zemojtel T, Hecht J, Krawitz P, Spielmann M, Kühnisch J, Kobus K, Osswald M, Heinrich V, Berlien P, Müller U, Mautner VF, Wimmer K, Robinson PN, Vingron M, Tinschert S, Mundlos S, Kolanczyk M. Emmerich D, et al. Eur J Hum Genet. 2015 Jun;23(6):870-3. doi: 10.1038/ejhg.2014.210. Epub 2014 Oct 8. Eur J Hum Genet. 2015. PMID: 25293717 Free PMC article.

5

Jannovar: a java library for exome annotation.

Jäger M, Wang K, Bauer S, Smedley D, Krawitz P, Robinson PN. Jäger M, et al. Hum Mutat. 2014 May;35(5):548-55. doi: 10.1002/humu.22531. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24677618

6

The allele distribution in next-generation sequencing data sets is accurately described as the result of a stochastic branching process.

Heinrich V, Stange J, Dickhaus T, Imkeller P, Krüger U, Bauer S, Mundlos S, Robinson PN, Hecht J, Krawitz PM. Heinrich V, et al. Among authors: krawitz pm. Nucleic Acids Res. 2012 Mar;40(6):2426-31. doi: 10.1093/nar/gkr1073. Epub 2011 Nov 29. Nucleic Acids Res. 2012. PMID: 22127862 Free PMC article.

7

Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.

Rödelsperger C, Krawitz P, Bauer S, Hecht J, Bigham AW, Bamshad M, de Condor BJ, Schweiger MR, Robinson PN. Rödelsperger C, et al. Bioinformatics. 2011 Mar 15;27(6):829-36. doi: 10.1093/bioinformatics/btr022. Epub 2011 Jan 28. Bioinformatics. 2011. PMID: 21278187 Free PMC article.

8

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

Heinrich V, Kamphans T, Stange J, Parkhomchuk D, Hecht J, Dickhaus T, Robinson PN, Krawitz PM. Heinrich V, et al. Among authors: krawitz pm. Genome Med. 2013 Jul 31;5(7):69. doi: 10.1186/gm473. eCollection 2013. Genome Med. 2013. PMID: 23902830 Free PMC article.

9

Basin entropy in Boolean network ensembles.

Krawitz P, Shmulevich I. Krawitz P, et al. Phys Rev Lett. 2007 Apr 13;98(15):158701. doi: 10.1103/PhysRevLett.98.158701. Epub 2007 Apr 9. Phys Rev Lett. 2007. PMID: 17501391

10

GeneTalk: an expert exchange platform for assessing rare sequence variants in personal genomes.

Kamphans T, Krawitz PM. Kamphans T, et al. Among authors: krawitz pm. Bioinformatics. 2012 Oct 1;28(19):2515-6. doi: 10.1093/bioinformatics/bts462. Epub 2012 Jul 23. Bioinformatics. 2012. PMID: 22826540 Free PMC article.

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