Scaringe WA - Search Results

1

Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans.

Drost JB, Scaringe WA, Jaloma-Cruz AR, Li X, Ossa DF, Kasper CK, Sommer SS. Drost JB, et al. Among authors: scaringe wa. Hum Mutat. 2000 Sep;16(3):203-10. doi: 10.1002/1098-1004(200009)16:3<203::AID-HUMU3>3.0.CO;2-1. Hum Mutat. 2000. PMID: 10980527

2

Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.

Buzin CH, Feng J, Yan J, Scaringe W, Liu Q, den Dunnen J, Mendell JR, Sommer SS. Buzin CH, et al. Hum Mutat. 2005 Feb;25(2):177-88. doi: 10.1002/humu.20132. Hum Mutat. 2005. PMID: 15643612

3

Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations.

Feng J, Drost JB, Scaringe WA, Liu Q, Sommer SS. Feng J, et al. Among authors: scaringe wa. Hum Mutat. 2002 Jan;19(1):49-57. doi: 10.1002/humu.10018. Hum Mutat. 2002. PMID: 11754103

4

Preferential occurrence of 1-2 microindels.

Hill KA, Gonzalez KD, Scaringe WA, Wang JC, Sommer SS. Hill KA, et al. Among authors: scaringe wa. Hum Mutat. 2006 Jan;27(1):55-61. doi: 10.1002/humu.20260. Hum Mutat. 2006. PMID: 16281281

5

Somatic microindels: analysis in mouse soma and comparison with the human germline.

Gonzalez KD, Hill KA, Li K, Li W, Scaringe WA, Wang JC, Gu D, Sommer SS. Gonzalez KD, et al. Among authors: scaringe wa. Hum Mutat. 2007 Jan;28(1):69-80. doi: 10.1002/humu.20416. Hum Mutat. 2007. PMID: 16977595

6

Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.

Ketterling RP, Drost JB, Scaringe WA, Liao DZ, Liu JZ, Kasper CK, Sommer SS. Ketterling RP, et al. Among authors: scaringe wa. Hum Mutat. 1999;13(3):221-31. doi: 10.1002/(SICI)1098-1004(1999)13:3<221::AID-HUMU6>3.0.CO;2-U. Hum Mutat. 1999. PMID: 10090477

7

Highly sensitive mutation screening by REF with low concentrations of urea: A blinded analysis of a 2-kb region of the p53 gene reveals two common haplotypes.

Feng J, Buzin CH, Tang SH, Scaringe WA, Sommer SS. Feng J, et al. Among authors: scaringe wa. Hum Mutat. 1999;14(2):175-80. doi: 10.1002/(SICI)1098-1004(1999)14:2<175::AID-HUMU9>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10425040

8

Nine independent F9 mutations in the Mexican hemophilia B population: nonrandom recurrences of point mutation events in the human germline.

Jaloma-Cruz AR, Scaringe WA, Drost JB, Roberts S, Li X, Barros-Núñez P, Figuera LE, Rivas F, Cantú JM, Sommer SS. Jaloma-Cruz AR, et al. Among authors: scaringe wa. Hum Mutat. 2000 Jan;15(1):116-7. doi: 10.1002/(SICI)1098-1004(200001)15:1<116::AID-HUMU25>3.0.CO;2-N. Hum Mutat. 2000. PMID: 10612837

9

Frequency of recent retrotransposition events in the human factor IX gene.

Li X, Scaringe WA, Hill KA, Roberts S, Mengos A, Careri D, Pinto MT, Kasper CK, Sommer SS. Li X, et al. Among authors: scaringe wa. Hum Mutat. 2001 Jun;17(6):511-9. doi: 10.1002/humu.1134. Hum Mutat. 2001. PMID: 11385709

10

Human germline mutation in the factor IX gene.

Sommer SS, Scaringe WA, Hill KA. Sommer SS, et al. Among authors: scaringe wa. Mutat Res. 2001 Nov 1;487(1-2):1-17. doi: 10.1016/s0921-8777(01)00108-2. Mutat Res. 2001. PMID: 11595404 Review.

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