Freund M - Search Results

1

Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain.

Nuytinck L, Wettinck K, Freund M, Van Maldergem L, Fabry G, De Paepe A. Nuytinck L, et al. Among authors: freund m. Eur J Hum Genet. 1997 May-Jun;5(3):161-7. Eur J Hum Genet. 1997. PMID: 9272740

2

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen.

Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A. Nuytinck L, et al. Among authors: freund m. Am J Hum Genet. 2000 Apr;66(4):1398-402. doi: 10.1086/302859. Epub 2000 Mar 17. Am J Hum Genet. 2000. PMID: 10739762 Free PMC article.

3

A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.

Vogel BE, Minor RR, Freund M, Prockop DJ. Vogel BE, et al. Among authors: freund m. J Biol Chem. 1987 Oct 25;262(30):14737-44. J Biol Chem. 1987. PMID: 3667599 Free article.

4

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL. Kichaev G, et al. Am J Hum Genet. 2019 Jan 3;104(1):65-75. doi: 10.1016/j.ajhg.2018.11.008. Epub 2018 Dec 27. Am J Hum Genet. 2019. PMID: 30595370 Free PMC article.

5

Phenotype-Specific Enrichment of Mendelian Disorder Genes near GWAS Regions across 62 Complex Traits.

Freund MK, Burch KS, Shi H, Mancuso N, Kichaev G, Garske KM, Pan DZ, Miao Z, Mohlke KL, Laakso M, Pajukanta P, Pasaniuc B, Arboleda VA. Freund MK, et al. Am J Hum Genet. 2018 Oct 4;103(4):535-552. doi: 10.1016/j.ajhg.2018.08.017. Am J Hum Genet. 2018. PMID: 30290150 Free PMC article.

6

Localizing Components of Shared Transethnic Genetic Architecture of Complex Traits from GWAS Summary Data.

Shi H, Burch KS, Johnson R, Freund MK, Kichaev G, Mancuso N, Manuel AM, Dong N, Pasaniuc B. Shi H, et al. Among authors: freund mk. Am J Hum Genet. 2020 Jun 4;106(6):805-817. doi: 10.1016/j.ajhg.2020.04.012. Epub 2020 May 21. Am J Hum Genet. 2020. PMID: 32442408 Free PMC article.

7

H3K27ac HiChIP in prostate cell lines identifies risk genes for prostate cancer susceptibility.

Giambartolomei C, Seo JH, Schwarz T, Freund MK, Johnson RD, Spisak S, Baca SC, Gusev A, Mancuso N, Pasaniuc B, Freedman ML. Giambartolomei C, et al. Am J Hum Genet. 2021 Dec 2;108(12):2284-2300. doi: 10.1016/j.ajhg.2021.11.007. Epub 2021 Nov 24. Am J Hum Genet. 2021. PMID: 34822763 Free PMC article.

8

Probabilistic fine-mapping of transcriptome-wide association studies.

Mancuso N, Freund MK, Johnson R, Shi H, Kichaev G, Gusev A, Pasaniuc B. Mancuso N, et al. Nat Genet. 2019 Apr;51(4):675-682. doi: 10.1038/s41588-019-0367-1. Epub 2019 Mar 29. Nat Genet. 2019. PMID: 30926970 Free PMC article.

9

Integrative analysis of Dupuytren's disease identifies novel risk locus and reveals a shared genetic etiology with BMI.

Major M, Freund MK, Burch KS, Mancuso N, Ng M, Furniss D, Pasaniuc B, Ophoff RA. Major M, et al. Among authors: freund mk. Genet Epidemiol. 2019 Sep;43(6):629-645. doi: 10.1002/gepi.22209. Epub 2019 May 13. Genet Epidemiol. 2019. PMID: 31087417 Free PMC article.

10

Leveraging genomic diversity for discovery in an electronic health record linked biobank: the UCLA ATLAS Community Health Initiative.

Johnson R, Ding Y, Venkateswaran V, Bhattacharya A, Boulier K, Chiu A, Knyazev S, Schwarz T, Freund M, Zhan L, Burch KS, Caggiano C, Hill B, Rakocz N, Balliu B, Denny CT, Sul JH, Zaitlen N, Arboleda VA, Halperin E, Sankararaman S, Butte MJ; UCLA Precision Health Data Discovery Repository Working Group, UCLA Precision Health ATLAS Working Group; Lajonchere C, Geschwind DH, Pasaniuc B. Johnson R, et al. Among authors: freund m. Genome Med. 2022 Sep 9;14(1):104. doi: 10.1186/s13073-022-01106-x. Genome Med. 2022. PMID: 36085083 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

939 results

Search Page

Filters