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1

Database of mutations in the p53 and APC tumor suppressor genes designed to facilitate molecular epidemiological analyses

Ellen M.G. De Vries, Darrell O. Ricke, Thomas N. De Vries, Arndt Hartmann, Hagen Blaszyk, Dongzhou Liao, Thierry Soussi, John S. Kovach, Steve S. Sommer

Journal:

Year:

1996

Language:

english

File:

PDF, 978 KB

english, 1996

2

MECP2 structural and 3′-UTR variants in schizophrenia, autism and other psychiatric diseases: A possible association with autism

Akane Shibayama, Edwin H. Cook Jr., Jinong Feng, Cecile Glanzmann, Jin Yan, Nick Craddock, Ian R. Jones, David Goldman, Leonard L. Heston, Steve S. Sommer

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2004

Language:

english

File:

PDF, 100 KB

english, 2004

3

Comprehensive scanning of the ATM gene with DOVAM-S

Carolyn H. Buzin, Richard A. Gatti, Vu Q. Nguyen, Cindy Y. Wen, Midori Mitui, Ozden Sanal, Jie Sheng Chen, Guity Nozari, April Mengos, Xuemin Li, Frank Fujimura, Steve S. Sommer

Journal:

Year:

2003

Language:

english

File:

PDF, 160 KB

english, 2003

4

pK-Matched Running Buffers for Gel Electrophoresis

Qiang Liu, Xuemin Li, Steve S. Sommer

Journal:

Analytical Biochemistry

Year:

1999

Language:

english

File:

PDF, 874 KB

english, 1999

5

Familial deletion within NLGN4 associated with autism and Tourette syndrome

Lawson-Yuen, Amy, Saldivar, Juan-Sebastian, Sommer, Steve, Picker, Jonathan

Journal:

European Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 260 KB

english, 2008

6

MitoDx: Massively parallel sequencing of the mitochondrial genome may diagnose mitochondrial disease without invasive biopsies

Steve S. Sommer⁎, Carolyn H. Buzin, William A. Scaringe, Hsin-Lung Lo, Charles E. Petersen

Journal:

Year:

2011

Language:

english

File:

PDF, 64 KB

english, 2011

7

NextGen Sequencing of the complete mtDNA genome: 20% estimated positive cases among recent 117 patients

Carolyn H. Buzin, Christian Neckelmann, Melissa Gasper, Juliana O. Barba, William A. Scaringe, Steve S. Sommer

Journal:

Year:

2012

Language:

english

File:

PDF, 69 KB

english, 2012

8

MitoNuc2Dx — Analyzing the mitochondrial genes encoded in the nuclear genome to assess their possible association with mitochondrial disorders

Steve S. Sommer, Harris S. Soifer, Shogher Nalbandian, Krishna S. Morampudi, William A. Scaringe, Nicolas Nekelmann, Juliana O. Barba

Journal:

Year:

2012

Language:

english

File:

PDF, 67 KB

english, 2012

9

[IEEE 2017 Winter Simulation Conference (WSC) - Las Vegas, NV (2017.12.3-2017.12.6)] 2017 Winter Simulation Conference (WSC) - Future simulation with Llamasoft

Sommer, Steve, Hicks, Don

Year:

2017

File:

PDF, 57 KB

2017

10

Refugia under threat: Mass bleaching of coral assemblages in high‐latitude eastern Australia

Kim, Sun W., Sampayo, Eugenia M., Sommer, Brigitte, Sims, Carrie A., Gómez‐Cabrera, Maria del C., Dalton, Steve J., Beger, Maria, Malcolm, Hamish A., Ferrari, Renata, Fraser, Nicola, Figueira, Will F.

Journal:

Global Change Biology

Year:

2019

Language:

english

File:

PDF, 1.15 MB

english, 2019

11

Current and future treatments of pulmonary arterial hypertension

Sommer, Natascha, Ghofrani, Ardeschir, Pak, Oleg, Bonnet, Sebastien, Provencher, Steve, Sitbon, Olivier, Rosenkranz, Stephan, Hoeper, Marius M., Kiely, David G.

Journal:

British Journal of Pharmacology

Year:

2020

File:

PDF, 1.77 MB

2020

12

Genotype-to-phenotype analysis: Search for clinical characteristics of a missense change in the GABAA-β1 receptor gene

Sobell, Janet L., Sigurdson, D. Christine, Heston, Leonard L., Byerley, William F., Sommer, Steve S.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 426 KB

english, 1996

13

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

Sobell, Janet L., Lind, Tammy J., Hebrink, David D., Heston, Leonard L., Sommer, Steve S.

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 105 KB

english, 1997

14

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

Feng, Jinong, Sobell, Janet L., Heston, Leonard L., Cook, Edwin H., Goldman, David, Sommer, Steve S.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 104 KB

english, 1998

15

Variants in the ?2A AR adrenergic receptor gene in psychiatric patients

Feng, Jinong, Sobell, Janet L., Heston, Leonard L., Goldman, David, Cook, Edwin, Kranzler, Henry R., Gelernter, Joel, Sommer, Steve S.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 98 KB

english, 1998

16

Overexpression and mutations of p53 in metastatic malignant melanomas

Arndt Hartmann, Hagen Blaszyk, Julie S. Cunningham, Renee M. McGovern, Jennifer S. Schroeder, Steve D. Helander, Mark R. Pittelkow, Steve S. Sommer, John S. Kovach

Journal:

International Journal of Cancer

Year:

1996

Language:

english

File:

PDF, 495 KB

english, 1996

17

A prospective trial of midwest breast cancer patients: A p53 gene mutation is the most important predictor of adverse outcome

Hagen Blaszyk, Arndt Hartmann, Julie M. Cunningham, Daniel Schaid, Lester E. Wold, John S. Kovach, Steve S. Sommer

Journal:

International Journal of Cancer

Year:

2000

Language:

english

File:

PDF, 106 KB

english, 2000

18

Mutations associated with hemophilia B in Turkish patients

S. Hande Çaǧlayan, Yeşim Gökmen, Gülten Aktuǧlu, Aytemiz Gürgey, Steve S. Sommer

Journal:

Year:

1997

Language:

english

File:

PDF, 102 KB

english, 1997

19

SSCP analysis of long DNA fragments in low pH gel

Yoji Kukita, Tomoko Tahira, Steve S. Sommer, Kenshi Hayashi

Journal:

Year:

1997

Language:

english

File:

PDF, 263 KB

english, 1997

20

Germline mutations in Peruvian patients with hemophilia B: Pattern of mutation in AmerIndians is similar to the putative endogenous germline pattern

John A. Heit, Erik C. Thorland, Rhett P. Ketterling, Tammy J. Lind, Todd M. Daniels, Renee Eyzaguirre Zapata, Saul Mendoza Ordonez, Carol K. Kasper, Steve S. Sommer

Journal:

Year:

1998

Language:

english

File:

PDF, 145 KB

english, 1998

21

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

Rhett P. Ketterling, Joni B. Drost, William A. Scaringe, Dong-zhou Liao, Jing-zhong Liu, Carol K. Kasper, Steve S. Sommer

Journal:

Year:

1999

Language:

english

File:

PDF, 497 KB

english, 1999

22

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

Jinong Feng, Carolyn H. Buzin, Shih-Huey E. Tang, William A. Scaringe, Steve S. Sommer

Journal:

Year:

1999

Language:

english

File:

PDF, 282 KB

english, 1999

23

Deep intronic mutations are rarely a cause of hemophilia B

Jinong Feng, Qiang Liu, Joni Drost, Steve S. Sommer

Journal:

Year:

1999

Language:

english

File:

PDF, 89 KB

english, 1999

24

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

Ana Rebeca Jaloma-Cruz, William A. Scaringe, Joni B. Drost, Stacy Roberts, Xuemin Li, Patricio Barros-Núñez, Luis E. Figuera, Fernando Rivas, José María Cantú, Steve S. Sommer

Journal:

Year:

2000

Language:

english

File:

PDF, 26 KB

english, 2000

25

System issues: Spontaneous mutation in Big Blue® transgenic mice: Analysis of age, gender, and tissue type

Hiroshi Nishino, Victoria L. Buettner, Jan Haavik, Daniel J. Schaid, Steve S. Sommer

Journal:

Environmental and Molecular Mutagenesis

Year:

1996

Language:

english

File:

PDF, 1.18 MB

english, 1996

26

Mutational specificity: Mutation frequencies but not mutant frequencies in Big Blue® mice fit a Poisson distribution

Hiroshi Nishino, Daniel J. Schaid, Victoria L. Buettner, Jan Haavik, Steve S. Sommer

Journal:

Environmental and Molecular Mutagenesis

Year:

1996

Language:

english

File:

PDF, 319 KB

english, 1996

27

Tandem-base mutations occur in mouse liver and adipose tissue preferentially as G:C to T:A transversions and accumulate with age

Victoria L. Buettner, Kathleen A. Hill, Asanga Halangoda, Steve S. Sommer

Journal:

Environmental and Molecular Mutagenesis

Year:

1999

Language:

english

File:

PDF, 93 KB

english, 1999

28

Spontaneous mutation frequency and pattern in Big Blue® mice fed a vitamin E-supplemented diet

Stephen R. Moore, Kathleen A. Hill, Petra W. Heinmoller, Asanga Halangoda, Makoto Kunishige, Victoria L. Buettner, Kenneth S. Graham, Steve S. Sommer

Journal:

Environmental and Molecular Mutagenesis

Year:

1999

Language:

english

File:

PDF, 58 KB

english, 1999

29

Five missense variants in the amino-terminal domain of the glucocorticoid receptor: No association with puerperal psychosis or schizophrenia

Jinong Feng, Jian Zheng, William P. Bennett, Leonard L. Heston, Ian R. Jones, Nick Craddock, Steve S. Sommer

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 155 KB

english, 2000

30

The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation

Jing-Zhong Liu, Xuemin Li, Joni Drost, Erik C. Thorland, Qiang Liu, Tammy Lind, Stacy Roberts, H.Y. Wang, Steve S. Sommer

Journal:

Year:

2000

Language:

english

File:

PDF, 199 KB

english, 2000

31

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

Joni B. Drost, William A. Scaringe, Ana Rebeca Jaloma-Cruz, Xuemin Li, Diego F. Ossa, Carol K. Kasper, Steve S. Sommer

Journal:

Year:

2000

Language:

english

File:

PDF, 259 KB

english, 2000

32

Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations

Xuemin Li, Joni B. Drost, Stacy Roberts, Carol Kasper, Steve S. Sommer

Journal:

Year:

2000

Language:

english

File:

PDF, 32 KB

english, 2000

33

Comparison of direct and indirect methods of carrier detection in an X-linked disease

Dwight D. Koeberl, Cynthia D. K. Bottema, Dr. Steve S. Sommer

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 803 KB

english, 1990

34

Neurofibromatosis 1 and osseous fibrous dysplasia in a family

Helena M. Schotland, Roswell Eldridge, Steve S. Sommer, Martin Malawar

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 767 KB

english, 1992

35

Novel association approach for determining the genetic predisposition to schizophrenia: Case-control resource and testing of a candidate gene

Janet L. Sobell, Leonard L. Heston, Dr. Steve S. Sommer

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 1008 KB

english, 1993

36

Dopamine D4 receptor variants in unrelated schizophrenic cases and controls

Steve S. Sommer, Tammy J. Lind, Leonard L. Heston, Janet L. Sobell

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 437 KB

english, 1993

37

Search for mutations in the β1 GABAA receptor subunit gene in patients with schizophrenia

Hilary Coon, Janet Sobell, Leonard Heston, Steve Sommer, Mark Hoff, John Holik, Farah Umar, Margaret Robertson, Fred Reimherr, Paul Wender, Kevin Vest, Marina Myles-Worsley, Elliot S. Gershon, Lynn E.

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 1.02 MB

english, 1994

38

Screening the dystrophin gene suggests a high rate of polymorphism in general but no exonic deletions in schizophrenics

Noralane M. Lindor, Janet L. Sobell, Leonard L. Heston, Stephen N. Thibodeau, Steve S. Sommer

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 512 KB

english, 1994

39

Need to confirm promising case-control association studies: Reply to Sham

Daniel J. Schaid, Steve S. Sommer

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 241 KB

english, 1994

40

Screening the dopamine D1 receptor gene in 131 schizophrenics and eight alcoholics: Identification of polymorphisms but lack of functionally significant sequence changes

Qiang Liu, Janet L. Sobell, Leonard L. Heston, Steve S. Sommer

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 783 KB

english, 1995

41

Scanning of estrogen receptor α (ERα) and thyroid hormone receptor α (TRα) genes in patients with psychiatric diseases: Four missense mutations identified in ERα gene

Jinong Feng, Jin Yan, Shawneen Michaud, Nick Craddock, Ian R. Jones, Edwin H. Cook Jr., David Goldman, Leonard L. Heston, Leena Peltonen, Lynn E. Delisi, Steve S. Sommer

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 93 KB

english, 2001

42

A novel mutation in JARID1C/SMCX in a patient with autism spectrum disorder (ASD)

Abidemi Adegbola, Hanlin Gao, Steve Sommer, Marsha Browning

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 356 KB

english, 2008

43

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

Jinong Feng, Jiesheng Chen, Jin Yan, Ian R. Jones, Nick Craddock, Edwin H. Cook Jr., David Goldman, Leonard L. Heston, Steve S. Sommer

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2005

Language:

english

File:

PDF, 72 KB

english, 2005

44

p53 As a mutagen test in breast cancer

Kathleen A. Hill, Steve S. Sommer

Journal:

Environmental and Molecular Mutagenesis

Year:

2002

Language:

english

File:

PDF, 145 KB

english, 2002

45

Single-cell immunohistochemical mutation load assay (SCIMLA) using human paraffin-embedded tissues

Gudrun Schlake, Qiang Liu, Ernst Heinmöller, Kathleen A. Hill, Lawrence Weiss, Steve S. Sommer

Journal:

Environmental and Molecular Mutagenesis

Year:

2003

Language:

english

File:

PDF, 244 KB

english, 2003

46

Spontaneous microdeletions and microinsertions in a transgenic mouse mutation detection system: analysis of age, tissue, and sequence specificity

Asanga Halangoda, Jonathan G. Still, Kathleen A. Hill, Steve S. Sommer

Journal:

Environmental and Molecular Mutagenesis

Year:

2001

Language:

english

File:

PDF, 249 KB

english, 2001

47

Spontaneous mutation in Big Blue® mice from fetus to old age: Tissue-specific time courses of mutation frequency but similar mutation types

Kathleen A. Hill, Victoria L. Buettner, Asanga Halangoda, Makoto Kunishige, Stephen R. Moore, Jeffrey Longmate, William A. Scaringe, Steve S. Sommer

Journal:

Environmental and Molecular Mutagenesis

Year:

2004

Language:

english

File:

PDF, 131 KB

english, 2004

48

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

Kathleen A. Hill, Asanga Halangoda, Petra W. Heinmoeller, Kelly Gonzalez, Chaniga Chitaphan, Jeffrey Longmate, William A. Scaringe, Ji-Cheng Wang, Steve S. Sommer

Journal:

Environmental and Molecular Mutagenesis

Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

49

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

Jinong Feng, Joni B. Drost, William A. Scaringe, Qiang Liu, Steve S. Sommer

Journal:

Year:

2002

Language:

english

File:

PDF, 350 KB

english, 2002

50

Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD)

Jin Yan, Jinong Feng, Carolyn H. Buzin, William Scaringe, Qiang Liu, Jerry R. Mendell, Johan den Dunnen, Steve S. Sommer

Journal:

Year:

2004

Language:

english

File:

PDF, 84 KB

english, 2004