Mundlos S - Search Results

1

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach.

Olech EM, Zemojtel T, Sowińska-Seidler A, Mundlos S, Robinson PN, Karczewski M, Jamsheer A. Olech EM, et al. Among authors: mundlos s. Pol J Pathol. 2016 Mar;67(1):78-83. doi: 10.5114/pjp.2016.59480. Pol J Pathol. 2016. PMID: 27179278 Free article.

2

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.

Robinson PN, Köhler S, Bauer S, Seelow D, Horn D, Mundlos S. Robinson PN, et al. Among authors: mundlos s. Am J Hum Genet. 2008 Nov;83(5):610-5. doi: 10.1016/j.ajhg.2008.09.017. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950739 Free PMC article.

3

The human phenotype ontology.

Robinson PN, Mundlos S. Robinson PN, et al. Among authors: mundlos s. Clin Genet. 2010 Jun;77(6):525-34. doi: 10.1111/j.1399-0004.2010.01436.x. Epub 2010 Feb 11. Clin Genet. 2010. PMID: 20412080 Review.

4

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.

Baasanjav S, Jamsheer A, Kolanczyk M, Horn D, Latos T, Hoffmann K, Latos-Bielenska A, Mundlos S. Baasanjav S, et al. Among authors: mundlos s. BMC Med Genet. 2010 Jul 9;11:110. doi: 10.1186/1471-2350-11-110. BMC Med Genet. 2010. PMID: 20618940 Free PMC article.

5

Strategies for exome and genome sequence data analysis in disease-gene discovery projects.

Robinson PN, Krawitz P, Mundlos S. Robinson PN, et al. Among authors: mundlos s. Clin Genet. 2011 Aug;80(2):127-32. doi: 10.1111/j.1399-0004.2011.01713.x. Epub 2011 Jun 13. Clin Genet. 2011. PMID: 21615730

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: mundlos s. 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

Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

Krawitz PM, Murakami Y, Hecht J, Krüger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D. Krawitz PM, et al. Among authors: mundlos s. Am J Hum Genet. 2012 Jul 13;91(1):146-51. doi: 10.1016/j.ajhg.2012.05.004. Epub 2012 Jun 7. Am J Hum Genet. 2012. PMID: 22683086 Free PMC article.

8

PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.

Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. Krawitz PM, et al. Among authors: mundlos s. Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011. Am J Hum Genet. 2013. PMID: 23561847 Free PMC article.

9

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion.

Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P, Doelken SC, Glazar R, Socha M, Mundlos S. Jamsheer A, et al. Among authors: mundlos s. J Med Genet. 2013 Sep;50(9):579-84. doi: 10.1136/jmedgenet-2013-101659. Epub 2013 May 24. J Med Genet. 2013. PMID: 23709756

10

Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.

Kamphans T, Sabri P, Zhu N, Heinrich V, Mundlos S, Robinson PN, Parkhomchuk D, Krawitz PM. Kamphans T, et al. Among authors: mundlos s. PLoS One. 2013 Aug 5;8(8):e70151. doi: 10.1371/journal.pone.0070151. Print 2013. PLoS One. 2013. PMID: 23940540 Free PMC article.

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