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Items: 1 to 50 of 271

1.

Three ways of combining genotyping and resequencing in case-control association studies.

Longmate JA, Larson GP, Krontiris TG, Sommer SS.

PLoS One. 2010 Dec 20;5(12):e14318. doi: 10.1371/journal.pone.0014318.

2.

Fibroblast immuno-diagnosis of cytochrome oxidase (COX) deficiency in mitochondrial disease.

Du A, Naviaux RK, Le T, Xu C, Sommer SS, Haas RH.

Mitochondrion. 2011 May;11(3):430-6. doi: 10.1016/j.mito.2010.12.014. Epub 2010 Dec 25.

PMID:
21187165
3.

Identification of high risk DISC1 protein structural variants in patients with bipolar spectrum disorder.

Song W, Li W, Noltner K, Yan J, Green E, Grozeva D, Jones IR, Craddock N, Longmate J, Feng J, Sommer SS.

Neurosci Lett. 2010 Dec 17;486(3):136-40. doi: 10.1016/j.neulet.2010.09.027. Epub 2010 Sep 17. Review.

PMID:
20850505
4.

Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.

Feng J, Zhang Z, Li W, Shen X, Song W, Yang C, Chang F, Longmate J, Marek C, St Amand RP, Krontiris TG, Shively JE, Sommer SS.

PLoS One. 2009 Dec 30;4(12):e8480. doi: 10.1371/journal.pone.0008480.

5.

Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancer.

Chen Z, Feng J, Buzin CH, Liu Q, Weiss L, Kernstine K, Somlo G, Sommer SS.

PLoS One. 2009 Sep 28;4(9):e7220. doi: 10.1371/journal.pone.0007220.

6.

SNPs in human miRNA genes affect biogenesis and function.

Sun G, Yan J, Noltner K, Feng J, Li H, Sarkis DA, Sommer SS, Rossi JJ.

RNA. 2009 Sep;15(9):1640-51. doi: 10.1261/rna.1560209. Epub 2009 Jul 17.

7.

Evidence for X-chromosomal schizophrenia associated with microRNA alterations.

Feng J, Sun G, Yan J, Noltner K, Li W, Buzin CH, Longmate J, Heston LL, Rossi J, Sommer SS.

PLoS One. 2009 Jul 1;4(7):e6121. doi: 10.1371/journal.pone.0006121.

8.

Risk factors for inhibitor formation in haemophilia: a prevalent case-control study.

Ragni MV, Ojeifo O, Feng J, Yan J, Hill KA, Sommer SS, Trucco MN, Brambilla DJ; Hemophilia Inhibitor Study.

Haemophilia. 2009 Sep;15(5):1074-82. doi: 10.1111/j.1365-2516.2009.02058.x. Epub 2009 Jun 26.

9.

High frequency of de novo mutations in Li-Fraumeni syndrome.

Gonzalez KD, Buzin CH, Noltner KA, Gu D, Li W, Malkin D, Sommer SS.

J Med Genet. 2009 Oct;46(10):689-93. doi: 10.1136/jmg.2008.058958. Epub 2009 Jun 25.

PMID:
19556618
10.

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.

Gonzalez KD, Noltner KA, Buzin CH, Gu D, Wen-Fong CY, Nguyen VQ, Han JH, Lowstuter K, Longmate J, Sommer SS, Weitzel JN.

J Clin Oncol. 2009 Mar 10;27(8):1250-6. doi: 10.1200/JCO.2008.16.6959. Epub 2009 Feb 9.

PMID:
19204208
11.

Robust dosage PCR (RD-PCR) for highly accurate dosage analysis.

Nguyen VQ, Liu Q, Sommer SS.

Curr Protoc Hum Genet. 2009 Jan;Chapter 9:Unit 9.20. doi: 10.1002/0471142905.hg0920s60.

PMID:
19170035
12.

Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Chen Z, Feng J, Buzin CH, Sommer SS.

PLoS One. 2008;3(11):e3714. doi: 10.1371/journal.pone.0003714. Epub 2008 Nov 13.

13.

Mutagenic and recombinagenic responses to defective DNA polymerase delta are facilitated by the Rev1 protein in pol3-t mutants of Saccharomyces cerevisiae.

Mito E, Mokhnatkin JV, Steele MC, Buettner VL, Sommer SS, Manthey GM, Bailis AM.

Genetics. 2008 Aug;179(4):1795-806. doi: 10.1534/genetics.108.089821.

14.

Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates.

Scaringe WA, Li K, Gu D, Gonzalez KD, Chen Z, Hill KA, Sommer SS.

Hum Mol Genet. 2008 Sep 15;17(18):2910-8. doi: 10.1093/hmg/ddn190. Epub 2008 Jul 15.

15.

Analysis of the neuroligin 4Y gene in patients with autism.

Yan J, Feng J, Schroer R, Li W, Skinner C, Schwartz CE, Cook EH Jr, Sommer SS.

Psychiatr Genet. 2008 Aug;18(4):204-7. doi: 10.1097/YPG.0b013e3282fb7fe6.

PMID:
18628683
16.

Neurexin 1alpha structural variants associated with autism.

Yan J, Noltner K, Feng J, Li W, Schroer R, Skinner C, Zeng W, Schwartz CE, Sommer SS.

Neurosci Lett. 2008 Jun 27;438(3):368-70. doi: 10.1016/j.neulet.2008.04.074. Epub 2008 Apr 25.

PMID:
18490107
17.

p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes.

Gonzalez K, Fong C, Buzin C, Sommer SS, Saldivar JS.

Curr Protoc Hum Genet. 2008 Apr;Chapter 10:Unit 10.10. doi: 10.1002/0471142905.hg1010s57.

PMID:
18428420
18.

Detection of mutations by single-strand conformation polymorphism (SSCP) analysis and SSCP-hybrid methods.

Warren W, Hovig E, Smith-Sørensen B, Børresen AL, Fujimura FK, Liu Q, Feng J, Sommer SS.

Curr Protoc Hum Genet. 2001 May;Chapter 7:Unit 7.4. doi: 10.1002/0471142905.hg0704s15.

PMID:
18428305
19.

EGFR somatic doublets in lung cancer are frequent and generally arise from a pair of driver mutations uncommonly seen as singlet mutations: one-third of doublets occur at five pairs of amino acids.

Chen Z, Feng J, Saldivar JS, Gu D, Bockholt A, Sommer SS.

Oncogene. 2008 Jul 17;27(31):4336-43. doi: 10.1038/onc.2008.71. Epub 2008 Mar 31.

PMID:
18372921
20.

PAP-LMPCR for improved, allele-specific footprinting and automated chromatin fine structure analysis.

Ingram R, Gao C, Lebon J, Liu Q, Mayoral RJ, Sommer SS, Hoogenkamp M, Riggs AD, Bonifer C.

Nucleic Acids Res. 2008 Feb;36(3):e19. doi: 10.1093/nar/gkm1159. Epub 2008 Jan 21.

21.

Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia.

Song W, Li W, Feng J, Heston LL, Scaringe WA, Sommer SS.

Biochem Biophys Res Commun. 2008 Mar 14;367(3):700-6. doi: 10.1016/j.bbrc.2007.12.117. Epub 2007 Dec 28.

PMID:
18164685
22.

Microarray-based DNA resequencing using 3' blocked primers.

Sram J, Sommer SS, Liu Q.

Anal Biochem. 2008 Mar 1;374(1):41-7. Epub 2007 Nov 4.

23.
24.

A large-scale validation of dosage analysis by robust dosage-polymerase chain reaction.

Nguyen VQ, Liu Q, Sommer SS.

Anal Biochem. 2007 Dec 1;371(1):37-42. Epub 2007 Aug 22.

PMID:
17910884
25.

A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin.

Yang C, Feng J, Song W, Wang J, Tsai B, Zhang Y, Scaringe WA, Hill KA, Margaritis P, High KA, Sommer SS.

Proc Natl Acad Sci U S A. 2007 Sep 25;104(39):15394-9. Epub 2007 Sep 19.

26.

Toward a fluorescent single-strand conformation polymorphism technique that detects all mutations: F-DOVAM-S.

Mroske C, Muci J, Wang J, Li K, Song W, Yan J, Feng J, Liu Q, Sommer SS.

Anal Biochem. 2007 Sep 15;368(2):250-7. Epub 2007 May 26.

27.

Evidence for mutation showers.

Wang J, Gonzalez KD, Scaringe WA, Tsai K, Liu N, Gu D, Li W, Hill KA, Sommer SS.

Proc Natl Acad Sci U S A. 2007 May 15;104(20):8403-8. Epub 2007 May 7.

28.

Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature.

Gu D, Scaringe WA, Li K, Saldivar JS, Hill KA, Chen Z, Gonzalez KD, Sommer SS.

Hum Mutat. 2007 Aug;28(8):760-70.

PMID:
17429853
29.

MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.

Coutinho AM, Oliveira G, Katz C, Feng J, Yan J, Yang C, Marques C, Ataíde A, Miguel TS, Borges L, Almeida J, Correia C, Currais A, Bento C, Mota-Vieira L, Temudo T, Santos M, Maciel P, Sommer SS, Vicente AM.

Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):475-83.

PMID:
17427193
30.

Genetic and physiologic correlates of longitudinal immunoreactive trypsinogen decline in infants with cystic fibrosis identified through newborn screening.

Sontag MK, Corey M, Hokanson JE, Marshall JA, Sommer SS, Zerbe GO, Accurso FJ.

J Pediatr. 2006 Nov;149(5):650-657.

PMID:
17095337
32.

High frequency of neurexin 1beta signal peptide structural variants in patients with autism.

Feng J, Schroer R, Yan J, Song W, Yang C, Bockholt A, Cook EH Jr, Skinner C, Schwartz CE, Sommer SS.

Neurosci Lett. 2006 Nov 27;409(1):10-3. Epub 2006 Oct 10.

PMID:
17034946
33.

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.

Hum Mutat. 2007 Jan;28(1):69-80.

PMID:
16977595
34.
35.

Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype.

Hill KA, Buettner VL, Heidt A, Chen LL, Li W, Gonzalez KD, Wang JC, Scaringe WA, Sommer SS.

Carcinogenesis. 2006 Sep;27(9):1860-6. Epub 2006 Apr 5.

PMID:
16597646
36.

Preferential occurrence of 1-2 microindels.

Hill KA, Gonzalez KD, Scaringe WA, Wang JC, Sommer SS.

Hum Mutat. 2006 Jan;27(1):55-61.

PMID:
16281281
37.

Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers.

Cohn JA, Neoptolemos JP, Feng J, Yan J, Jiang Z, Greenhalf W, McFaul C, Mountford R, Sommer SS.

Hum Mutat. 2005 Oct;26(4):303-7.

PMID:
16134171
38.

Vitamin D receptor variants in 192 patients with schizophrenia and other psychiatric diseases.

Yan J, Feng J, Craddock N, Jones IR, Cook EH Jr, Goldman D, Heston LL, Chen J, Burkhart P, Li W, Shibayama A, Sommer SS.

Neurosci Lett. 2005 May 20-27;380(1-2):37-41. Epub 2005 Feb 1.

PMID:
15854747
39.

Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).

Shi J, Shibayama A, Liu Q, Nguyen VQ, Feng J, Santos M, Temudo T, Maciel P, Sommer SS.

Hum Mutat. 2005 May;25(5):505.

PMID:
15841480
40.

Single-base discrimination mediated by proofreading inert allele specific Primers.

Lin-Ling C, Zhang J, Sommer SS, Li K.

J Biochem Mol Biol. 2005 Jan 31;38(1):24-7.

PMID:
15715942
41.

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.

Casey G, Lindor NM, Papadopoulos N, Thibodeau SN, Moskow J, Steelman S, Buzin CH, Sommer SS, Collins CE, Butz M, Aronson M, Gallinger S, Barker MA, Young JP, Jass JR, Hopper JL, Diep A, Bapat B, Salem M, Seminara D, Haile R; Colon Cancer Family Registry.

JAMA. 2005 Feb 16;293(7):799-809.

42.

Superb nucleotide discrimination by a novel on/off switch for DNA polymerization and its applications.

Li K, Zhang J, Chen L, Sommer SS.

Mol Biotechnol. 2005 Feb;29(2):93-100.

PMID:
15699566
43.

Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice.

Hill KA, Halangoda A, Heinmoeller PW, Gonzalez K, Chitaphan C, Longmate J, Scaringe WA, Wang JC, Sommer SS.

Environ Mol Mutagen. 2005 Jun;45(5):442-54.

PMID:
15690342
44.

The incidence of venous thromboembolism among Factor V Leiden carriers: a community-based cohort study.

Heit JA, Sobell JL, Li H, Sommer SS.

J Thromb Haemost. 2005 Feb;3(2):305-11.

45.

Proofreading genotyping assays mediated by high fidelity exo+ DNA polymerases.

Zhang J, Li K, Pardinas JR, Sommer SS, Yao KT.

Trends Biotechnol. 2005 Feb;23(2):92-6. Review.

PMID:
15661346
46.

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.

Hum Mutat. 2005 Feb;25(2):177-88.

PMID:
15643612
47.

Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases.

Feng J, Chen J, Yan J, Jones IR, Craddock N, Cook EH Jr, Goldman D, Heston LL, Sommer SS.

Am J Med Genet B Neuropsychiatr Genet. 2005 Feb 5;133B(1):50-3.

PMID:
15635645
48.

Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients.

Yan J, Oliveira G, Coutinho A, Yang C, Feng J, Katz C, Sram J, Bockholt A, Jones IR, Craddock N, Cook EH Jr, Vicente A, Sommer SS.

Mol Psychiatry. 2005 Apr;10(4):329-32. No abstract available.

PMID:
15622415
49.

Elimination of locus-specific inter-individual variation in quantitative PCR.

Shi J, Liu Q, Nguyen VQ, Sommer SS.

Biotechniques. 2004 Dec;37(6):934-8.

50.

Robust dosage (RD)-PCR protocol for the detection of heterozygous deletions.

Nguyen VQ, Shi J, Liu Q, Sommer SS.

Biotechniques. 2004 Sep;37(3):360, 362, 364. No abstract available. Erratum in: Biotechniques. 2004 Nov;37(5):758.

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