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Steve Sommer

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Single-Stranded Conformational Polymorphism

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Publications

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Gonzalez K D; Buzin C H; Noltner K A; Gu D; Li W; Malkin D; Sommer S S
High frequency of de novo mutations in Li-Fraumeni syndrome.
Sun Guihua; Yan Jin; Noltner Katie; Feng Jinong; Li Haitang; Sarkis Daniel A; Sommer Steve S; Rossi John J
SNPs in human miRNA genes affect biogenesis and function.
Gonzalez Kelly D; Noltner Katie A; Buzin Carolyn H; Gu Dongqing; Wen-Fong Cindy Y; Nguyen Vu Q; Han Jennifer H; Lowstuter Katrina; Longmate Jeffrey; Sommer Steve S; Weitzel Jeffrey N
Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.

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All Publications

2009: Gonzalez K D; Buzin C H; Noltner K A; Gu D; Li W; Malkin D; Sommer S S
High frequency of de novo mutations in Li-Fraumeni syndrome.
Journal of medical genetics 2009;46(10):689-93.
2009: Sun Guihua; Yan Jin; Noltner Katie; Feng Jinong; Li Haitang; Sarkis Daniel A; Sommer Steve S; Rossi John J
SNPs in human miRNA genes affect biogenesis and function.
RNA (New York, N.Y.) 2009;15(9):1640-51.
2009: Gonzalez Kelly D; Noltner Katie A; Buzin Carolyn H; Gu Dongqing; Wen-Fong Cindy Y; Nguyen Vu Q; Han Jennifer H; Lowstuter Katrina; Longmate Jeffrey; Sommer Steve S; Weitzel Jeffrey N
Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2009;27(8):1250-6.
2009: Nguyen Vu Q; Liu Qiang; Sommer Steve S
Robust dosage PCR (RD-PCR) for highly accurate dosage analysis.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2009;Chapter 9():Unit 9.20.
2009: Chen Zhenbin; Feng Jinong; Buzin Carolyn H; Liu Qiang; Weiss Lawrence; Kernstine Kemp; Somlo George; Sommer Steve S
Analysis of cancer mutation signatures in blood by a novel ultra-sensitive assay: monitoring of therapy or recurrence in non-metastatic breast cancer.
PloS one 2009;4(9):e7220.
2009: Feng Jinong; Sun Guihua; Yan Jin; Noltner Katie; Li Wenyan; Buzin Carolyn H; Longmate Jeff; Heston Leonard L; Rossi John; Sommer Steve S
Evidence for X-chromosomal schizophrenia associated with microRNA alterations.
PloS one 2009;4(7):e6121.
2008: Scaringe William A; Li Kai; Gu Dongqing; Gonzalez Kelly D; Chen Zhenbin; Hill Kathleen A; Sommer Steve S
Somatic microindels in human cancer: the insertions are highly error-prone and derive from nearby but not adjacent sense and antisense templates.
Human molecular genetics 2008;17(18):2910-8.
2008: Mito Erica; Mokhnatkin Janet V; Steele Molly C; Buettner Victoria L; Sommer Steve S; Manthey Glenn M; Bailis Adam M
Mutagenic and recombinagenic responses to defective DNA polymerase delta are facilitated by the Rev1 protein in pol3-t mutants of Saccharomyces cerevisiae.
Genetics 2008;179(4):1795-806.
2008: Yan Jin; Feng Jinong; Schroer Richard; Li Wenyan; Skinner Cindy; Schwartz Charles E; Cook Edwin H; Sommer Steve S
Analysis of the neuroligin 4Y gene in patients with autism.
Psychiatric genetics 2008;18(4):204-7.
2008: Chen Z; Feng J; Saldivar J-S; Gu D; Bockholt A; Sommer S S
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.
Oncogene 2008;27(31):4336-43.
2008: Yan Jin; Noltner Katie; Feng Jinong; Li Wenyan; Schroer Richard; Skinner Cindy; Zeng Wenqi; Schwartz Charles E; Sommer Steve S
Neurexin 1alpha structural variants associated with autism.
Neuroscience letters 2008;438(3):368-70.
2008: Gonzalez Kelly; Fong Cindy; Buzin Carolyn; Sommer Steve S; Saldivar Juan-Sebastian
p53 Testing for Li-Fraumeni and Li-Fraumeni-like syndromes.
Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.] 2008;Chapter 10():Unit 10.10.
2008: Song Wenjia; Li Wenyan; Feng Jinong; Heston Leonard L; Scaringe William A; Sommer Steve S
Identification of high risk DISC1 structural variants with a 2% attributable risk for schizophrenia.
Biochemical and biophysical research communications 2008;367(3):700-6.
2008: Sram Jakub; Sommer Steve S; Liu Qiang
Microarray-based DNA resequencing using 3' blocked primers.
Analytical biochemistry 2008;374(1):41-7.
2008: Chen Zhenbin; Feng Jinong; Buzin Carolyn H; Sommer Steve S
Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.
PloS one 2008;3(11):e3714.
2007: Nguyen Vu Q; Liu Qiang; Sommer Steve S
A large-scale validation of dosage analysis by robust dosage-polymerase chain reaction.
Analytical biochemistry 2007;371(1):37-42.
2007: Yang Chunmei; Feng Jinong; Song Wenjia; Wang Jicheng; Tsai Becky; Zhang Yunwu; Scaringe William A; Hill Kathleen A; Margaritis Paris; High Katherine A; Sommer Steve S
A mouse model for nonsense mutation bypass therapy shows a dramatic multiday response to geneticin.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(39):15394-9.
2007: Mroske Cameron; Muci John; Wang Jicheng; Li Kai; Song Wenjia; Yan Jin; Feng Jinong; Liu Qiang; Sommer Steve S
Toward a fluorescent single-strand conformation polymorphism technique that detects all mutations: F-DOVAM-S.
Analytical biochemistry 2007;368(2):250-7.
2007: Gu Dongqing; Scaringe William A; Li Kai; Saldivar Juan-Sebastian; Hill Kathleen A; Chen Zhenbin; Gonzalez Kelly D; Sommer Steve S
Database of somatic mutations in EGFR with analyses revealing indel hotspots but no smoking-associated signature.
Human mutation 2007;28(8):760-70.
2007: Coutinho Ana M; Oliveira Guiomar; Katz Cécile; Feng Jinong; Yan Jin; Yang Chunmei; Marques Carla; Ataíde Assunção; Miguel Teresa S; Borges Luís; Almeida Joana; Correia Catarina; Currais António; Bento Celeste; Mota-Vieira Luísa; Temudo Teresa; Santos Mónica; Maciel Patrícia; Sommer Steve S; Vicente Astrid M
MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(4):475-83.
2007: Wang Jicheng; Gonzalez Kelly D; Scaringe William A; Tsai Kimberly; Liu Ning; Gu Dongqing; Li Wenyan; Hill Kathleen A; Sommer Steve S
Evidence for mutation showers.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(20):8403-8.
2007: Shi Jinxiu; Liu Qiang; Sommer Steve S
Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification.
Human mutation 2007;28(2):131-6.
2007: Gonzalez Kelly D; Hill Kathleen A; Li Kai; Li Wenyan; Scaringe William A; Wang Ji-Cheng; Gu Dongqing; Sommer Steve S
Somatic microindels: analysis in mouse soma and comparison with the human germline.
Human mutation 2007;28(1):69-80.
2007: Feng Jinong; Yan Jin; Li Wenyan; Chen Jiesheng; Sommer Steve S
Candidate gene analyses by scanning or brute force fluorescent sequencing: a comparison of DOVAM-S with gel-based and capillary-based sequencing.
Genetic testing 2007;11(3):235-40.
2006: Feng Jinong; Schroer Richard; Yan Jin; Song Wenjia; Yang Chunmei; Bockholt Anke; Cook Edwin H; Skinner Cindy; Schwartz Charles E; Sommer Steve S
High frequency of neurexin 1beta signal peptide structural variants in patients with autism.
Neuroscience letters 2006;409(1):10-3.
2006: Hill Kathleen A; Buettner Victoria L; Heidt Analeah; Chen Lin-Ling; Li Wenyan; Gonzalez Kelly D; Wang Ji-Cheng; Scaringe William A; Sommer Steve S
Most spontaneous tumors in a mouse model of Li-Fraumeni syndrome do not have a mutator phenotype.
Carcinogenesis 2006;27(9):1860-6.
2006: Liu Qiang; Nguyen Vu Q; Li Xuemin; Sommer Steve S
Multiplex dosage pyrophosphorolysis-activated polymerization: application to the detection of heterozygous deletions.
BioTechniques 2006;40(5):661-8.
2006: Hill Kathleen A; Gonzalez Kelly D; Scaringe William A; Wang Ji-Cheng; Sommer Steve S
Preferential occurrence of 1-2 microindels.
Human mutation 2006;27(1):55-61.
2005: Hill Kathleen A; Halangoda Asanga; Heinmoeller Petra W; Gonzalez Kelly; Chitaphan Chaniga; Longmate Jeffrey; Scaringe William A; Wang Ji-Cheng; Sommer Steve S
Tissue-specific time courses of spontaneous mutation frequency and deviations in mutation pattern are observed in middle to late adulthood in Big Blue mice.
Environmental and molecular mutagenesis 2005;45(5):442-54.
2005: Yan Jin; Feng Jinong; Craddock Nick; Jones Ian R; Cook Edwin H; Goldman David; Heston Leonard L; Chen Jiesheng; Burkhart Patricia; Li Wenyan; Shibayama Akane; Sommer Steve S
Vitamin D receptor variants in 192 patients with schizophrenia and other psychiatric diseases.
Neuroscience letters 2005;380(1-2):37-41.
2005: Shi Jinxiu; Shibayama Akane; Liu Qiang; Nguyen Vu Q; Feng Jinong; Santos Mónica; Temudo Teresa; Maciel Patricia; Sommer Steve S
Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR).
Human mutation 2005;25(5):505.
2005: Yan J; Oliveira G; Coutinho A; Yang C; Feng J; Katz C; Sram J; Bockholt A; Jones I R; Craddock N; Cook E H; Vicente A; Sommer S S
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients.
Molecular psychiatry 2005;10(4):329-32.
2005: Casey Graham; Lindor Noralane M; Papadopoulos Nickolas; Thibodeau Stephen N; Moskow John; Steelman Scott; Buzin Carolyn H; Sommer Steve S; Collins Christine E; Butz Malinda; Aronson Melyssa; Gallinger Steven; Barker Melissa A; Young Joanne P; Jass Jeremy R; Hopper John L; Diep Anh; Bapat Bharati; Salem Michael; Seminara Daniela; Haile Robert;
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer.
JAMA : the journal of the American Medical Association 2005;293(7):799-809.
2005: Buzin Carolyn H; Feng Jinong; Yan Jin; Scaringe William; Liu Qiang; den Dunnen Johan; Mendell Jerry R; Sommer Steve S
Mutation rates in the dystrophin gene: a hotspot of mutation at a CpG dinucleotide.
Human mutation 2005;25(2):177-88.
2005: Feng Jinong; Chen Jiesheng; Yan Jin; Jones Ian R; Craddock Nick; Cook Edwin H; Goldman David; Heston Leonard L; Sommer Steve S
Structural variants in the retinoid receptor genes in patients with schizophrenia and other psychiatric diseases.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;133B(1):50-3.
2004: Shi Jinxiu; Liu Qiang; Nguyen Vu Q; Sommer Steve S
Elimination of locus-specific inter-individual variation in quantitative PCR.
BioTechniques 2004;37(6):934-8.
2004: Hill Kathleen A; Wang Jicheng; Farwell Kelly D; Scaringe William A; Sommer Steve S
Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency.
Mutation research 2004;554(1-2):223-40.
2004: Nguyen Vu Q; Shi Jinxiu; Liu Qiang; Sommer Steve S
Robust dosage (RD)-PCR protocol for the detection of heterozygous deletions.
BioTechniques 2004;37(3):360, 362, 364.
2004: Yan Jin; Feng Jinong; Hosono Seiyu; Sommer Steve S
Assessment of multiple displacement amplification in molecular epidemiology.
BioTechniques 2004;37(1):136-8, 140-3.
2004: Shibayama Akane; Cook Edwin H; Feng Jinong; Glanzmann Cecile; Yan Jin; Craddock Nick; Jones Ian R; Goldman David; Heston Leonard L; Sommer Steve S
MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004;128B(1):50-3.
2004: Liu Qiang; Sommer Steve S
PAP: detection of ultra rare mutations depends on P* oligonucleotides: "sleeping beauties" awakened by the kiss of pyrophosphorolysis.
Human mutation 2004;23(5):426-36.
2004: Yan Jin; Feng Jinong; Goldman David; Cook Edwin H; Craddock Nick; Jones Ian R; Heston Leonard L; Sommer Steve S
Mutation scanning of the androgen receptor gene in patients with psychiatric disorders reveals highly conserved variants in alcoholic and phobia patients.
Psychiatric genetics 2004;14(1):57-60.
2004: Yan Jin; Feng Jinong; Buzin Carolyn H; Scaringe William; Liu Qiang; Mendell Jerry R; den Dunnen Johan; Sommer Steve S
Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD).
Human mutation 2004;23(2):203-4.
2004: Liu Qiang; Sommer Steve S
Detection of extremely rare alleles by bidirectional pyrophosphorolysis-activated polymerization allele-specific amplification (Bi-PAP-A): measurement of mutation load in mammalian tissues.
BioTechniques 2004;36(1):156-66.
2004: Liu Qiang; Sommer Steve S
Pyrophosphorolysis by Type II DNA polymerases: implications for pyrophosphorolysis-activated polymerization.
Analytical biochemistry 2004;324(1):22-8.
2004: Hill Kathleen A; Buettner Victoria L; Halangoda Asanga; Kunishige Makoto; Moore Stephen R; Longmate Jeffrey; Scaringe William A; Sommer Steve S
Spontaneous mutation in Big Blue mice from fetus to old age: tissue-specific time courses of mutation frequency but similar mutation types.
Environmental and molecular mutagenesis 2004;43(2):110-20.
2003: Feng Jinong; Yan Jin; Chen Jiesheng; Schlake Gudrun; Jiang Zefei; Buzin Carolyn H; Sommer Steve S; Dritschilo Anatoly
Absence of somatic ATM missense mutations in 58 mammary carcinomas.
Cancer genetics and cytogenetics 2003;145(2):179-82.
2003: Sommer Steve S; Jiang Zefei; Feng Jinong; Buzin Carolyn H; Zheng Jian; Longmate Jeffrey; Jung Mira; Moulds Jefferson; Dritschilo Anatoly
ATM missense mutations are frequent in patients with breast cancer.
Cancer genetics and cytogenetics 2003;145(2):115-20.
2003: Liu Qiang; Li Xuemin; Chen Jie Sheng; Sommer Steve S
Robust dosage-PCR for detection of heterozygous chromosomal deletions.
BioTechniques 2003;34(3):558-62, 565-6, 568 passim.
2003: Buzin Carolyn H; Gatti Richard A; Nguyen Vu Q; Wen Cindy Y; Mitui Midori; Sanal Ozden; Chen Jie Sheng; Nozari Guity; Mengos April; Li Xuemin; Fujimura Frank; Sommer Steve S
Comprehensive scanning of the ATM gene with DOVAM-S.
Human mutation 2003;21(2):123-31.
2003: Furnes Bjarte; Feng Jinong; Sommer Steve S; Schlenk Daniel
Identification of novel variants of the flavin-containing monooxygenase gene family in African Americans.
Drug metabolism and disposition: the biological fate of chemicals 2003;31(2):187-93.
2003: Hill Kathleen A; Wang Jicheng; Farwell Kelly D; Sommer Steve S
Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity.
Mutation research 2003;534(1-2):173-86.
2003: Schlake Gudrun; Liu Qiang; Heinmöller Ernst; Hill Kathleen A; Weiss Lawrence; Sommer Steve S
Single-cell immunohistochemical mutation load assay (SCIMLA) using human paraffin-embedded tissues.
Environmental and molecular mutagenesis 2003;42(3):206-15.
2002: Feng Jinong; Yan Jin; Buzin Carolyn H; Towbin Jeffrey A; Sommer Steve S
Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy.
Molecular genetics and metabolism 2002;77(1-2):119-26.
2002: Feng Jinong; Yan Jin Yan; Buzin Carolyn H; Sommer Steve S; Towbin Jeffrey A
Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.
Journal of the American College of Cardiology 2002;40(6):1120-4.
2002: Sommer Steve S; Scaringe William A; Hill Kathleen A
Is Alu-mediated recombination an important cause of hemophilia?
Thrombosis and haemostasis 2002;88(1):3-4.
2002: Liu Qiang; Swiderski Piotr; Sommer Steve S
Truncated amplification: a method for high-fidelity template-driven nucleic acid amplification.
BioTechniques 2002;33(1):129-32, 134-6, 138.
2002: Sommer Steve S; Buzin Carolyn H; Jung Mira; Zheng Jian; Liu Qiang; Jeong Sook J; Moulds Jefferson; Nguyen Vu Q; Feng Jinong; Bennett William P; Dritschilo Anatoly
Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls.
Cancer genetics and cytogenetics 2002;134(1):25-32.
2002: Heinmöller Ernst; Liu Qiang; Sun Yuan; Schlake Gudrun; Hill Kathleen A; Weiss Larry M; Sommer Steve S
Toward efficient analysis of mutations in single cells from ethanol-fixed, paraffin-embedded, and immunohistochemically stained tissues.
Laboratory investigation; a journal of technical methods and pathology 2002;82(4):443-53.
2002: Liu Qiang; Sommer Steve S
Pyrophosphorolysis-activatable oligonucleotides may facilitate detection of rare alleles, mutation scanning and analysis of chromatin structures.
Nucleic acids research 2002;30(2):598-604.
2002: Feng Jinong; Drost Joni B; Scaringe William A; Liu Qiang; Sommer Steve S
Mutations in the factor IX gene (F9) during the past 150 years have relative rates similar to ancient mutations.
Human mutation 2002;19(1):49-57.
2002: Heinmöller E; Schlake G; Renke B; Liu Q; Hill K A; Sommer S S; Rüschoff J
Microdissection and molecular analysis of single cells or small cell clusters in pathology and diagnosis--significance and challenges.
Analytical cellular pathology : the journal of the European Society for Analytical Cellular Pathology 2002;24(4-5):125-34.
2002: Hill Kathleen A; Sommer Steve S
p53 as a mutagen test in breast cancer.
Environmental and molecular mutagenesis 2002;39(2-3):216-27.
2001: Sommer S S; Scaringe W A; Hill K A
Human germline mutation in the factor IX gene.
Mutation research 2001;487(1-2):1-17.
2001: Mendell J R; Buzin C H; Feng J; Yan J; Serrano C; Sangani D S; Wall C; Prior T W; Sommer S S
Diagnosis of Duchenne dystrophy by enhanced detection of small mutations.
Neurology 2001;57(4):645-50.
2001: Li X; Scaringe W A; Hill K A; Roberts S; Mengos A; Careri D; Pinto M T; Kasper C K; Sommer S S
Frequency of recent retrotransposition events in the human factor IX gene.
Human mutation 2001;17(6):511-9.
2001: Feng J; Yan J; Michaud S; Craddock N; Jones I R; Cook E H; Goldman D; Heston L L; Peltonen L; Delisi L E; Sommer S S
Scanning of estrogen receptor alpha (ERalpha) and thyroid hormone receptor alpha (TRalpha) genes in patients with psychiatric diseases: four missense mutations identified in ERalpha gene.
American journal of medical genetics 2001;105(4):369-74.
2001: Feng J; Craddock N; Jones I R; Cook E H; Goldman D; Heston L L; Peltonen L; DeLisi L E; Sommer S S
Systematic screening for mutations in the glycine receptor alpha2 subunit gene (GLRA2) in patients with schizophrenia and other psychiatric diseases.
Psychiatric genetics 2001;11(1):45-8.
2001: Feng J; Zheng J; Gelernter J; Kranzler H; Cook E; Goldman D; Jones I R; Craddock N; Heston L L; Delisi L; Peltonen L; Bennett W P; Sommer S S
An in-frame deletion in the alpha(2C) adrenergic receptor is common in African--Americans.
Molecular psychiatry 2001;6(2):168-72.
2001: Kunishige M; Hill K A; Riemer A M; Farwell K D; Halangoda A; Heinmöller E; Moore S R; Turner D M; Sommer S S
Mutation frequency is reduced in the cerebellum of Big Blue mice overexpressing a human wild type SOD1 gene.
Mutation research 2001;473(2):139-49.
2001: Halangoda A; Still J G; Hill K A; Sommer S S
Spontaneous microdeletions and microinsertions in a transgenic mouse mutation detection system: analysis of age, tissue, and sequence specificity.
Environmental and molecular mutagenesis 2001;37(4):311-23.
2000: Liu Q; Sommer S S
Pyrophosphorolysis-activated polymerization (PAP): application to allele-specific amplification.
BioTechniques 2000;29(5):1072-6, 1078, 1080 passim.
2000: Li X; Drost J B; Roberts S; Kasper C; Sommer S S
Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations.
Human mutation 2000;16(4):371.
2000: Buettner V L; Hill K A; Scaringe W A; Sommer S S
Evidence that proximal multiple mutations in Big Blue transgenic mice are dependent events.
Mutation research 2000;452(2):219-29.
2000: Heinmöller P W; Hill K A; Sommer S S
High plating density improves Big Blue system efficiency without loss of sensitivity.
Mutation research 2000;453(1):97-103.
2000: Drost J B; Scaringe W A; Jaloma-Cruz A R; Li X; Ossa D F; Kasper C K; Sommer S S
Novel hotspot detector software reveals a non-CpG hotspot of germline mutation in the factor IX gene (F9) in Latin Americans.
Human mutation 2000;16(3):203-10.
2000: Feng J; Zheng J; Bennett W P; Heston L L; Jones I R; Craddock N; Sommer S S
Five missense variants in the amino-terminal domain of the glucocorticoid receptor: no association with puerperal psychosis or schizophrenia.
American journal of medical genetics 2000;96(3):412-7.
2000: Buzin C H; Wen C Y; Nguyen V Q; Nozari G; Mengos A; Li X; Chen J S; Liu Q; Gatti R A; Fujimura F K; Sommer S S
Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic.
BioTechniques 2000;28(4):746-50, 752-3.
2000: Liu Q; Scaringe W A; Sommer S S
Discrete mobility of single-stranded DNA in non-denaturing gel electrophoresis.
Nucleic acids research 2000;28(4):940-3.
2000: Jaloma-Cruz A R; Scaringe W A; Drost J B; Roberts S; Li X; Barros-Núñez P; Figuera L E; Rivas F; Cantú J M; Sommer S S
Nine independent F9 mutations in the Mexican hemophilia B population: nonrandom recurrences of point mutation events in the human germline.
Human mutation 2000;15(1):116-7.
2000: Liu J Z; Li X; Drost J; Thorland E C; Liu Q; Lind T; Roberts S; Wang H Y; Sommer S S
The human factor IX gene as germline mutagen test: samples from Mainland China have the putatively endogenous pattern of mutation.
Human mutation 2000;16(1):31-6.
1999: Ketterling R P; Vielhaber E; Li X; Drost J; Schaid D J; Kasper C K; Phillips J A; Koerper M A; Kim H; Sexauer C; Gruppo R; Ambriz R; Paredes R; Sommer S S
Germline origins in the human F9 gene: frequent G:C-->A:T mosaicism and increased mutations with advanced maternal age.
Human genetics 1999;105(6):629-40.
1999: Scaringe W A; Liao D; Liu Q; Sommer S S
REF Select: expert system software for selecting restriction endonucleases for restriction endonuclease fingerprinting.
BioTechniques 1999;27(6):1188-90, 1192-4, 1196 passim.
1999: Liu Q; Feng J; Buzin C; Wen C; Nozari G; Mengos A; Nguyen V; Liu J; Crawford L; Fujimura F K; Sommer S S
Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity.
BioTechniques 1999;26(5):932, 936-8, 940-2.
1999: Liu Q; Li X; Sommer S S
pK-matched running buffers for gel electrophoresis.
Analytical biochemistry 1999;270(1):112-22.
1999: Thorland E C; Drost J B; Lusher J M; Warrier I; Shapiro A; Koerper M A; Dimichele D; Westman J; Key N S; Sommer S S
Anaphylactic response to factor IX replacement therapy in haemophilia B patients: complete gene deletions confer the highest risk.
Haemophilia : the official journal of the World Federation of Hemophilia 1999;5(2):101-5.
1999: Hill K A; Nishino H; Buettner V L; Halangoda A; Li W; Sommer S S
The Big Blue(R) transgenic mouse mutation detection assay: the mutation pattern of sectored mutant plaques.
Mutation research 1999;425(1):47-54.
1999: Heit J A; Ketterling R P; Zapata R E; Ordonez S M; Kasper C K; Sommer S S
Haemophilia B Brandenberg-type promoter mutation.
Haemophilia : the official journal of the World Federation of Hemophilia 1999;5(1):73-5.
1999: Hill K A; Buettner V L; Glickman B W; Sommer S S
Spontaneous mutations in the Big Blue transgenic system are primarily mouse derived.
Mutation research 1999;436(1):11-9.
1999: Moore S R; Hill K A; Heinmoller P W; Halangoda A; Kunishige M; Buettner V L; Graham K S; Sommer S S
Spontaneous mutation frequency and pattern in Big Blue mice fed a vitamin E-supplemented diet.
Environmental and molecular mutagenesis 1999;34(2-3):195-200.
1999: Feng J; Buzin C H; Tang S H; Scaringe W A; Sommer S S
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.
Human mutation 1999;14(2):175-80.
1999: Buettner V L; Hill K A; Halangoda A; Sommer S S
Tandem-base mutations occur in mouse liver and adipose tissue preferentially as G:C to T:A transversions and accumulate with age.
Environmental and molecular mutagenesis 1999;33(4):320-4.
1999: Ketterling R P; Drost J B; Scaringe W A; Liao D Z; Liu J Z; Kasper C K; Sommer S S
Reported in vivo splice-site mutations in the factor IX gene: severity of splicing defects and a hypothesis for predicting deleterious splice donor mutations.
Human mutation 1999;13(3):221-31.
1998: Liu Q; Sommer S S
Subcycling-PCR for multiplex long-distance amplification of regions with high and low GC content: application to the inversion hotspot in the factor VIII gene.
BioTechniques 1998;25(6):1022-8.
1998: Feng J; Sobell J L; Heston L L; Goldman D; Cook E; Kranzler H R; Gelernter J; Sommer S S
Variants in the alpha2A AR adrenergic receptor gene in psychiatric patients.
American journal of medical genetics 1998;81(5):405-10.
1998: Liu Q; Nozari G; Sommer S S
Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A.
Blood 1998;92(4):1458-9.
1998: Liu Q; Sommer S S
The SSCP phenomenon: addition of HEPES buffer dramatically affects electrophoretic mobility.
BioTechniques 1998;25(1):50-2, 54, 56.
1998: Feng J; Sobell J L; Heston L L; Cook E H; Goldman D; Sommer S S
Scanning of the dopamine D1 and D5 receptor genes by REF in neuropsychiatric patients reveals a novel missense change at a highly conserved amino acid.
American journal of medical genetics 1998;81(2):172-8.
1998: Liu Q; Weinshenker B G; Wingerchuk D M; Sommer S S
Denaturation fingerprinting: two related mutation detection methods especially advantageous for high G + C regions.
BioTechniques 1998;24(1):140-7.
1998: Heit J A; Thorland E C; Ketterling R P; Lind T J; Daniels T M; Zapata R E; Ordonez S M; Kasper C K; Sommer S S
Germline mutations in Peruvian patients with hemophilia B: pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern.
Human mutation 1998;11(5):372-6.
1997: Buettner V L; Nishino H; Haavik J; Knöll A; Hill K; Sommer S S
Spontaneous mutation frequencies and spectra in p53 (+/+) and p53 (-/-) mice: a test of the 'guardian of the genome' hypothesis in the Big Blue transgenic mouse mutation detection system.
Mutation research 1997;379(1):13-20.
1997: Mikesell M J; Barron Y D; Nimgaonkar V L; Sobell J L; Sommer S S; McMurray C T
Gly(247)-->Asp proenkephalin A mutation is rare in schizophrenia populations.
American journal of medical genetics 1997;74(2):213-5.
1997: Liu Q; Thorland E C; Heit J A; Sommer S S
Overlapping PCR for bidirectional PCR amplification of specific alleles: a rapid one-tube method for simultaneously differentiating homozygotes and heterozygotes.
Genome research 1997;7(4):389-98.
1997: Sobell J L; Lind T J; Hebrink D D; Heston L L; Sommer S S
Screening the monoamine oxidase B gene in 100 male patients with schizophrenia: a cluster of polymorphisms in African-Americans but lack of functionally significant sequence changes.
American journal of medical genetics 1997;74(1):44-9.
1997: Warrier I; Ewenstein B M; Koerper M A; Shapiro A; Key N; DiMichele D; Miller R T; Pasi J; Rivard G E; Sommer S S; Katz J; Bergmann F; Ljung R; Petrini P; Lusher J M
Factor IX inhibitors and anaphylaxis in hemophilia B.
Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology 1997;19(1):23-7.
1996: Buettner V L; Hill K A; Nishino H; Schaid D J; Frisk C S; Sommer S S
Increased mutation frequency and altered spectrum in one of four thymic lymphomas derived from tumor prone p53/Big Blue double transgenic mice.
Oncogene 1996;13(11):2407-13.
1996: Nishino H; Buettner V L; Sommer S S
Towards validation of the Big Blue transgenic mouse mutagenesis assay: the mutational spectrum of ex vivo pinpoint mutant plaques.
Mutation research 1996;372(1):97-105.
1996: Blaszyk H; Hartmann A; Tamura Y; Saitoh S; Cunningham J M; McGovern R M; Schroeder J J; Schaid D J; Ii K; Monden Y; Morimoto T; Komaki K; Sasa M; Hirata K; Okazaki M; Kovach J S; Sommer S S
Molecular epidemiology of breast cancers in northern and southern Japan: the frequency, clustering, and patterns of p53 gene mutations differ among these two low-risk populations.
Oncogene 1996;13(10):2159-66.
1996: Knöll A; Ketterling R P; Sommer S S
Absence of somatic mosaicism in 17 families with hemophilia B: an analysis with a sensitivity 10- to 1000-fold greater than that of sequencing gels.
Human genetics 1996;98(5):539-45.
1996: Mikesell M J; Sobell J L; Sommer S S; McMurray C T
Identification of a missense mutation and several polymorphisms in the proenkephalin A gene of schizophrenic patients.
American journal of medical genetics 1996;67(5):459-67.
1996: Blaszyk H; Hartmann A; Liao D Z; Kovach J S; Sommer S S
Evidence for diverse mutagens in breast cancer.
Lancet 1996;348(9028):683-4.
1996: Hartmann A; Blaszyk H; Cunningham J S; McGovern R M; Schroeder J S; Helander S D; Pittelkow M R; Sommer S S; Kovach J S
Overexpression and mutations of p53 in metastatic malignant melanomas.
International journal of cancer. Journal international du cancer 1996;67(3):313-7.
1996: Haavik J; Nishino H; Liu Q; Sommer S S
Bi-directional dideoxy fingerprinting (Bi-ddF): rapid and efficient screening for mutations in the Big Blue transgenic mouse mutation detection system.
BioTechniques 1996;20(6):988-90, 992-4.
1996: Knöll A; Jacobson D P; Nishino H; Kretz P L; Short J M; Sommer S S
A selectable system for mutation detection in the Big Blue lacI transgenic mouse system: what happens to the mutational spectra over time.
Mutation research 1996;352(1-2):9-22.
1996: Blaszyk H; Hartmann A; Sommer S S; Kovach J S
A polymorphism but no mutations in the GADD45 gene in breast cancers.
Human genetics 1996;97(4):543-7.
1996: Hartmann A; Blaszyk H; Saitoh S; Tsushima K; Tamura Y; Cunningham J M; McGovern R M; Schroeder J J; Sommer S S; Kovach J S
High frequency of p53 gene mutations in primary breast cancers in Japanese women, a low-incidence population.
British journal of cancer 1996;73(8):896-901.
1996: Sobell J L; Sigurdson D C; Heston L L; Byerley W F; Sommer S S
Genotype-to-phenotype analysis: search for clinical characteristics of a missense change in the GABAA-beta 1 receptor gene.
American journal of medical genetics 1996;67(1):81-4.
1996: Kovach J S; Hartmann A; Blaszyk H; Cunningham J; Schaid D; Sommer S S
Mutation detection by highly sensitive methods indicates that p53 gene mutations in breast cancer can have important prognostic value.
Proceedings of the National Academy of Sciences of the United States of America 1996;93(3):1093-6.
1996: Liu Q; Feng J; Sommer S S
Bi-directional dideoxy fingerprinting (Bi-ddF): a rapid method for quantitative detection of mutations in genomic regions of 300-600 bp.
Human molecular genetics 1996;5(1):107-14.
1996: Sommer S S; Rocca W A
Prion analogues and twin studies in Parkinson's disease.
Neurology 1996;46(1):273-5.
1996: Nishino H; Schaid D J; Buettner V L; Haavik J; Sommer S S
Mutation frequencies but not mutant frequencies in Big Blue mice fit a Poisson distribution.
Environmental and molecular mutagenesis 1996;28(4):414-7.
1996: Nishino H; Buettner V L; Haavik J; Schaid D J; Sommer S S
Spontaneous mutation in Big Blue transgenic mice: analysis of age, gender, and tissue type.
Environmental and molecular mutagenesis 1996;28(4):299-312.
1996: Lind T; Thorland E C; Sommer S S
Genomic amplification with transcript sequencing (GAWTS).
Methods in molecular biology (Clifton, N.J.) 1996;65():193-200.
1996: Sommer S S; Ketterling R P
The factor IX gene as a model for analysis of human germline mutations: an update.
Human molecular genetics 1996;5 Spec No():1505-14.
1996: De Vries E M; Ricke D O; De Vries T N; Hartmann A; Blaszyk H; Liao D; Soussi T; Kovach J S; Sommer S S
Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses.
Human mutation 1996;7(3):202-13.
1995: Thorland E C; Weinshenker B G; Liu J Z; Ketterling R P; Vielhaber E L; Kasper C K; Ambriz R; Paredes R; Sommer S S
Molecular epidemiology of factor IX germline mutations in Mexican Hispanics: pattern of mutation and potential founder effects.
Thrombosis and haemostasis 1995;74(6):1416-22.
1995: Sommer S S; Knöll A; Greenberg C R; Ketterling R P
Germline mosaicism in a female who seemed to be a carrier by sequence analysis.
Human molecular genetics 1995;4(11):2181-2.
1995: Nishino H; Herath J F; Jenkins R B; Sommer S S
Fluorescence in situ hybridization for rapid differentiation of zygosity in transgenic mice.
BioTechniques 1995;19(4):587-90, 592.
1995: Nishino H; Knöll A; Buettner V L; Frisk C S; Maruta Y; Haavik J; Sommer S S
p53 wild-type and p53 nullizygous Big Blue transgenic mice have similar frequencies and patterns of observed mutation in liver, spleen and brain.
Oncogene 1995;11(2):263-70.
1995: Sommer S S
Recent human germ-line mutation: inferences from patients with hemophilia B.
Trends in genetics : TIG 1995;11(4):141-7.
1995: Ketterling R P; Liu J Z; Liao D; Kasper C K; Ambriz R; Paredes R; Sommer S S
Two novel factor IX promoter mutations: incremental progress towards 'saturation in vivo mutagenesis' of a human promoter region.
Human molecular genetics 1995;4(4):769-70.
1995: Sobell J L; Lind T J; Sigurdson D C; Zald D H; Snitz B E; Grove W M; Heston L L; Sommer S S
The D5 dopamine receptor gene in schizophrenia: identification of a nonsense change and multiple missense changes but lack of association with disease.
Human molecular genetics 1995;4(4):507-14.
1995: Ricke D O; Liu Q; Gostout B; Sommer S S
Nonrandom patterns of simple and cryptic triplet repeats in coding and noncoding sequences.
Genomics 1995;26(3):510-20.
1995: Liu Q; Sobell J L; Heston L L; Sommer S S
Screening the dopamine D1 receptor gene in 131 schizophrenics and eight alcoholics: identification of polymorphisms but lack of functionally significant sequence changes.
American journal of medical genetics 1995;60(2):165-71.
1995: Hartmann A; Blaszyk H; McGovern R M; Schroeder J J; Cunningham J; De Vries E M; Kovach J S; Sommer S S
p53 gene mutations inside and outside of exons 5-8: the patterns differ in breast and other cancers.
Oncogene 1995;10(4):681-8.
1995: Blaszyk H; Hartmann A; Schroeder J J; McGovern R M; Sommer S S; Kovach J S
Rapid and efficient screening for p53 gene mutations by dideoxy fingerprinting.
BioTechniques 1995;18(2):256-60.
1995: Hartmann A; Rosanelli G; Blaszyk H; Cunningham J M; McGovern R M; Schroeder J J; Schaid D J; Kovach J S; Sommer S S
Novel pattern of P53 mutation in breast cancers from Austrian women.
The Journal of clinical investigation 1995;95(2):686-9.
1994: Knöll A; Jacobson D P; Kretz P L; Lundberg K S; Short J M; Sommer S S
Spontaneous mutations in lacI-containing lambda lysogens derived from transgenic mice: the observed patterns differ in liver and spleen.
Mutation research 1994;311(1):57-67.
1994: Saitoh S; Cunningham J; De Vries E M; McGovern R M; Schroeder J J; Hartmann A; Blaszyk H; Wold L E; Schaid D; Sommer S S
p53 gene mutations in breast cancers in midwestern US women: null as well as missense-type mutations are associated with poor prognosis.
Oncogene 1994;9(10):2869-75.
1994: Liu Q; Sommer S S
Parameters affecting the sensitivities of dideoxy fingerprinting and SSCP.
PCR methods and applications 1994;4(2):97-108.
1994: Schaid D J; Sommer S S
Comparison of statistics for candidate-gene association studies using cases and parents.
American journal of human genetics 1994;55(2):402-9.
1994: Sommer S S; Ketterling R P
How precisely can data from transgenic mouse mutation-detection systems be extrapolated to humans?: lesions from the human factor IX gene.
Mutation research 1994;307(2):517-31.
1994: Ketterling R P; Vielhaber E; Sommer S S
The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene.
American journal of human genetics 1994;54(5):831-5.
1994: Blaszyk H; Vaughn C B; Hartmann A; McGovern R M; Schroeder J J; Cunningham J; Schaid D; Sommer S S; Kovach J S
Novel pattern of p53 gene mutations in an American black cohort with high mortality from breast cancer.
Lancet 1994;343(8907):1195-7.
1994: Sommer S S; Tillotson V L; Vielhaber E L; Ketterling R P; Dutton C M
"Cryptic" dinucleotide polymorphism in the 3' region of the factor IX gene shows substantial variation among different populations.
Human genetics 1994;93(3):357-8.
1994: Lindor N M; Sobell J L; Heston L L; Thibodeau S N; Sommer S S
Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics.
American journal of medical genetics 1994;54(1):1-4.
1994: Ketterling R P; Vielhaber E L; Lind T J; Thorland E C; Sommer S S
The rates and patterns of deletions in the human factor IX gene.
American journal of human genetics 1994;54(2):201-13.
1994: Ketterling R P; Sommer S S
Microdeletions in the factor IX gene: three recurrences associated with a quasipalindromic sequence.
Human molecular genetics 1994;3(1):191-2.
1994: Blaszyk H; Hartmann A; Wold L E; Schroeder J J; McGovern R M; Sommer S S; Kovach J S
A tandem CC-->TT transition in the p53 gene of a breast cancer.
Human mutation 1994;4(2):158-60.
1993: Sommer S S; Sobell J L; Heston L L
A common exonic polymorphism in the human D5 dopamine receptor gene.
Human genetics 1993;92(6):633-4.
1993: Arnholt J C; Sobell J L; Heston L L; Sommer S S
APP mutations and schizophrenia.
Biological psychiatry 1993;34(10):739-40.
1993: Schaid D J; Sommer S S
Genotype relative risks: methods for design and analysis of candidate-gene association studies.
American journal of human genetics 1993;53(5):1114-26.
1993: Vielhaber E; Jacobson D P; Ketterling R P; Liu J Z; Sommer S S
A mutation in the 3' untranslated region of the factor IX gene in four families with hemophilia B.
Human molecular genetics 1993;2(8):1309-10.
1993: Ii S; Sommer S S
The high frequency of TTR M30 in familial amyloidotic polyneuropathy is not due to a founder effect.
Human molecular genetics 1993;2(8):1303-5.
1993: Jacobson D P; Schmeling P; Sommer S S
Characterization of the patterns of polymorphism in a "cryptic repeat" reveals a novel type of hypervariable sequence.
American journal of human genetics 1993;53(2):443-50.
1993: Sommer S S; Lind T J; Heston L L; Sobell J L
Dopamine D4 receptor variants in unrelated schizophrenic cases and controls.
American journal of medical genetics 1993;48(2):90-3.
1993: Bottema C D; Sommer S S
PCR amplification of specific alleles: rapid detection of known mutations and polymorphisms.
Mutation research 1993;288(1):93-102.
1993: Gostout B; Liu Q; Sommer S S
"Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes.
American journal of human genetics 1993;52(6):1182-90.
1993: Dutton C M; Paynton C; Sommer S S
General method for amplifying regions of very high G+C content.
Nucleic acids research 1993;21(12):2953-4.
1993: Bottema C D; Ketterling R P; Vielhaber E; Yoon H S; Gostout B; Jacobson D P; Shapiro A; Sommer S S
The pattern of spontaneous germ-line mutation: relative rates of mutation at or near CpG dinucleotides in the factor IX gene.
Human genetics 1993;91(5):496-503.
1993: Sobell J L; Heston L L; Sommer S S
Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of a candidate gene.
American journal of medical genetics 1993;48(1):28-35.
1993: Gostout B; Vielhaber E; Ketterling R P; Yoon H S; Bottema C D; Kasper C K; Koerper M A; Sommer S S
Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians.
Human molecular genetics 1993;2(3):293-8.
1993: Ketterling R P; Vielhaber E; Bottema C D; Schaid D J; Cohen M P; Sexauer C L; Sommer S S
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.
American journal of human genetics 1993;52(1):152-66.
1993: Bottema C D; Sarkar G; Cassady J D; Ii S; Dutton C M; Sommer S S
Polymerase chain reaction amplification of specific alleles: a general method of detection of mutations, polymorphisms, and haplotypes.
Methods in enzymology 1993;218():388-402.
1993: Ketterling R P; Ricke D O; Wurster M W; Sommer S S
Deletions with inversions: report of a mutation and review of the literature.
Human mutation 1993;2(1):53-7.
1993: Sarkar G; Sommer S S
Removal of DNA contamination in polymerase chain reaction reagents by ultraviolet irradiation.
Methods in enzymology 1993;218():381-8.
1993: Dutton C M; Bottema C D; Sommer S S
Alu repeats in the human factor IX gene: the rate of polymorphism is not substantially elevated.
Human mutation 1993;2(6):468-72.
1993: Lindor N M; Sommer S S; Sobell J; Heston L; Thibodeau S N
Eight novel polymorphisms in the dystrophin gene of African-Americans: the rate of polymorphism is high.
Human mutation 1993;2(6):485-8.
1992: Ricke D O; Ketterling R P; Sommer S S
PRE: a novel element with the hallmarks of a retrotransposon derived from an unknown structural RNA.
Nucleic acids research 1992;20(19):5233.
1992: Sommer S S
Assessing the underlying pattern of human germline mutations: lessons from the factor IX gene.
The FASEB journal : official publication of the Federation of American Societies for Experimental Biology 1992;6(10):2767-74.
1992: Sarkar G; Yoon H S; Sommer S S
Dideoxy fingerprinting (ddE): a rapid and efficient screen for the presence of mutations.
Genomics 1992;13(2):441-3.
1992: Sommer S S; Bowie E J; Ketterling R P; Bottema C D
Missense mutations and the magnitude of functional deficit: the example of factor IX.
Human genetics 1992;89(3):295-7.
1992: Sommer S S; Cunningham J; McGovern R M; Saitoh S; Schroeder J J; Wold L E; Kovach J S
Pattern of p53 gene mutations in breast cancers of women of the midwestern United States.
Journal of the National Cancer Institute 1992;84(4):246-52.
1992: Sarkar G; Yoon H S; Sommer S S
Screening for mutations by RNA single-strand conformation polymorphism (rSSCP): comparison with DNA-SSCP.
Nucleic acids research 1992;20(4):871-8.
1992: Sobell J L; Heston L L; Sommer S S
Delineation of genetic predisposition to multifactorial disease: a general approach on the threshold of feasibility.
Genomics 1992;12(1):1-6.
1992: Ii S; Sobell J L; Sommer S S
From molecular variant to disease: initial steps in evaluating the association of transthyretin M119 with disease.
American journal of human genetics 1992;50(1):29-41.
1991: Dutton C; Sommer S S
Simultaneous detection of multiple single-base alleles at a polymorphic site.
BioTechniques 1991;11(6):700-2.
1991: Bottema C D; Bottema M J; Ketterling R P; Yoon H S; Janco R L; Phillips J A; Sommer S S
Why does the human factor IX gene have a G + C content of 40%?
American journal of human genetics 1991;49(4):839-50.
1991: Bottema C D; Ketterling R P; Ii S; Yoon H S; Phillips J A; Sommer S S
Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.
American journal of human genetics 1991;49(4):820-38.
1991: Sarkar G; Kapelner S; Grandy D K; Marchionni M; Civelli O; Sobell J; Heston L; Sommer S S
Direct sequencing of the dopamine D2 receptor (DRD2) in schizophrenics reveals three polymorphisms but no structural change in the receptor.
Genomics 1991;11(1):8-14.
1991: Ketterling R P; Bottema C D; Phillips J A; Sommer S S
Evidence that descendants of three founders constitute about 25% of hemophilia B in the United States.
Genomics 1991;10(4):1093-6.
1991: Paynton C; Sarkar G; Sommer S S
Identification of mutations in two families with sporadic hemophilia A.
Human genetics 1991;87(4):397-400.
1991: Ketterling R P; Bottema C D; Koeberl D D; Ii S; Sommer S S
T296----M, a common mutation causing mild hemophilia B in the Amish and others: founder effect, variability in factor IX activity assays, and rapid carrier detection.
Human genetics 1991;87(3):333-7.
1991: Kovach J S; McGovern R M; Cassady J D; Swanson S K; Wold L E; Vogelstein B; Sommer S S
Direct sequencing from touch preparations of human carcinomas: analysis of p53 mutations in breast carcinomas.
Journal of the National Cancer Institute 1991;83(14):1004-9.
1991: Ii S; Minnerath S; Ii K; Dyck P J; Sommer S S
Two-tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations.
Neurology 1991;41(6):893-8.
1991: Sarkar G; Sommer S S
Parameters affecting susceptibility of PCR contamination to UV inactivation.
BioTechniques 1991;10(5):590-4.
1991: Sarkar G; Sommer S S
Haplotyping by double PCR amplification of specific alleles.
BioTechniques 1991;10(4):436, 438, 440.
1991: Sarkar G; Cassady J D; Pyeritz R E; Gilchrist G S; Sommer S S
Isoleucine397 is changed to threonine in two females with hemophilia B.
Nucleic acids research 1991;19(5):1165.
1991: Sarkar G; Paynton C; Sommer S S
Segments containing alternating purine and pyrimidine dinucleotides: patterns of polymorphism in humans and prevalence throughout phylogeny.
Nucleic acids research 1991;19(3):631-6.
1990: Sarkar G; Kapelner S; Sommer S S
Formamide can dramatically improve the specificity of PCR.
Nucleic acids research 1990;18(24):7465.
1990: Bottema C D; Ketterling R P; Yoon H S; Sommer S S
The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.
American journal of human genetics 1990;47(5):835-41.
1990: Koeberl D D; Bottema C D; Ketterling R P; Bridge P J; Lillicrap D P; Sommer S S
Mutations causing hemophilia B: direct estimate of the underlying rates of spontaneous germ-line transitions, transversions, and deletions in a human gene.
American journal of human genetics 1990;47(2):202-17.
1990: Bottema C D; Koeberl D D; Ketterling R P; Bowie E J; Taylor S A; Lillicrap D; Shapiro A; Gilchrist G; Sommer S S
A past mutation at isoleucine 397 is now a common cause of moderate/mild haemophilia B.
British journal of haematology 1990;75(2):212-6.
1990: Sarkar G; Cassady J; Bottema C D; Sommer S S
Characterization of polymerase chain reaction amplification of specific alleles.
Analytical biochemistry 1990;186(1):64-8.
1990: Bottema C D; Ketterling R P; Koeberl D D; Taylor S A; Sommer S S
Mutations at arginine residues in two Asian hemophilia B patients.
Nucleic acids research 1990;18(7):1924.
1990: Koeberl D D; Bottema C D; Sommer S S
Comparison of direct and indirect methods of carrier detection in an X-linked disease.
American journal of medical genetics 1990;35(4):600-8.
1990: Koeberl D D; Bottema C D; Sarkar G; Ketterling R P; Chen S H; Sommer S S
Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs.
Human genetics 1990;84(5):387-90.
1990: Sarkar G; Koeberl D D; Sommer S S
Direct sequencing of the activation peptide and the catalytic domain of the factor IX gene in six species.
Genomics 1990;6(1):133-43.
1990: Schowalter D B; Toft D O; Sommer S S
A method of sequencing without subcloning and its application to the identification of a novel ORF with a sequence suggestive of a transcriptional regulator in the water mold Achlya ambisexualis.
Genomics 1990;6(1):23-32.
1989: Bottema C D; Ketterling R P; Cho H I; Sommer S S
Hemophilia B in a male with a four-base insertion that arose in the germline of his mother.
Nucleic acids research 1989;17(23):10139.
1989: Sommer S S; Cassady J D; Sobell J L; Bottema C D
A novel method for detecting point mutations or polymorphisms and its application to population screening for carriers of phenylketonuria.
Mayo Clinic proceedings. Mayo Clinic 1989;64(11):1361-72.
1989: Koeberl D D; Bottema C D; Buerstedde J M; Sommer S S
Functionally important regions of the factor IX gene have a low rate of polymorphism and a high rate of mutation in the dinucleotide CpG.
American journal of human genetics 1989;45(3):448-57.
1989: Bottema C D; Koeberl D D; Sommer S S
Direct carrier testing in 14 families with haemophilia B.
Lancet 1989;2(8662):526-9.
1989: Sarkar G; Evans M I; Kogan S; Lusher J; Sommer S S
Accurate prenatal diagnosis with novel polymerase chain reaction primers in a family with sporadic hemophilia A.
Obstetrics and gynecology 1989;74(3 Pt 1):414-7.
1989: Schowalter D B; Sommer S S
The generation of radiolabeled DNA and RNA probes with polymerase chain reaction.
Analytical biochemistry 1989;177(1):90-4.
1988: Sarkar G; Sommer S S
RNA amplification with transcript sequencing (RAWTS).
Nucleic acids research 1988;16(11):5197.
1988: Stoflet E S; Koeberl D D; Sarkar G; Sommer S S
Genomic amplification with transcript sequencing.
Science (New York, N.Y.) 1988;239(4839):491-4.
1987: Gustafson S; Proper J A; Bowie E J; Sommer S S
Parameters affecting the yield of DNA from human blood.
Analytical biochemistry 1987;165(2):294-9.
1987: Al-Hakeem M; Sommer S S
Terbium identifies double-stranded RNA on gels by quenching the fluorescence of intercalated ethidium bromide.
Analytical biochemistry 1987;163(2):433-9.

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