S. Sommer

N. Craddock, E. Cook, I. Jones, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutation detection by highly sensitive methods indicates that p53 gene mutations in breast cancer can have important prognostic value.

D. Schaid, J. Cunningham, A. Hartmann, 1996, Proceedings of the National Academy of Sciences of the United States of America.

Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy.

J. Towbin, S. Sommer, Jinong Feng, 2002, Journal of the American College of Cardiology.

Eight novel polymorphisms in the dystrophin gene of african‐americans: The rate of polymorphism is high

S. Thibodeau, L. Heston, N. Lindor, 1993, Human mutation.

p53 Testing for Li‐Fraumeni and Li‐Fraumeni‐Like Syndromes

S. Sommer, K. Gonzalez, J. Saldivar, 2008, Current protocols in human genetics.

An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767).

D. Schaid, S. Thibodeau, U. Froster-Iskenius, 1989, American journal of human genetics.

Identification of novel variants of the flavin-containing monooxygenase gene family in African Americans.

S. Sommer, Jinong Feng, D. Schlenk, 2003, Drug metabolism and disposition: the biological fate of chemicals.

Recurrent nonsense mutations at arginine residues cause severe hemophilia B in unrelated hemophiliacs

S. Sommer, C. Bottema, D. Koeberl, 1990, Human Genetics.

A tandem CC → TT transition in the p53 gene of a breast cancer

A. Hartmann, J. Kovach, H. Blaszyk, 1994, Human mutation.

Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.

D. Schaid, S. Sommer, C. Bottema, 1993, American journal of human genetics.

Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, pattern and spectrum specificity.

S. Sommer, K. Hill, Jicheng Wang, 2003, Mutation research.

Pattern of p53 gene mutations in breast cancers of women of the midwestern United States.

J. Cunningham, J. Kovach, S. Sommer, 1992, Journal of the National Cancer Institute.

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

R. Naviaux, S. Sommer, R. Haas, 2011, Mitochondrion.

A population-based case-control study of the tumor necrosis factor alpha-308 polymorphism in multiple sclerosis

B. Weinshenker, S. Sommer, D. Wingerchuk, 1997, Neurology.

Why does the human factor IX gene have a G + C content of 40%?

S. Sommer, C. Bottema, R. Ketterling, 1991, American journal of human genetics.

The rates of G:C-->T:A and G:C-->C:G transversions at CpG dinucleotides in the human factor IX gene.

S. Sommer, R. Ketterling, E. Vielhaber, 1994, American journal of human genetics.

A postulated mechanism for deletions with inversions.

S. Sommer, R. Ketterling, 1993, American journal of human genetics.

Germline origins in the human F9 gene: frequent G:C→A:T mosaicism and increased mutations with advanced maternal age

D. Schaid, S. Sommer, R. Ketterling, 1999, Human Genetics.

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.

L. Heston, S. Sommer, J. Sobell, 1997, American journal of medical genetics.

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

S. Sommer, K. Hill, Victoria L. Buettner, 1999, Environmental and molecular mutagenesis.

Evidence for mutation showers

S. Sommer, K. Hill, Wenyan Li, 2007, Proceedings of the National Academy of Sciences.

Evidence that proximal multiple mutations in Big Blue transgenic mice are dependent events.

S. Sommer, K. Hill, Victoria L. Buettner, 2000, Mutation research.

Spontaneous mutations in the Big Blue transgenic system are primarily mouse derived.

S. Sommer, K. Hill, B. Glickman, 1999, Mutation research.

Increased mutation frequency and altered spectrum in one of four thymic lymphomas derived from tumor prone p53/Big Blue double transgenic mice.

D. Schaid, S. Sommer, K. Hill, 1996, Oncogene.

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.

L. Peltonen, N. Craddock, L. DeLisi, 2001, American journal of medical genetics.

Characterization of the patterns of polymorphism in a "cryptic repeat" reveals a novel type of hypervariable sequence.

S. Sommer, D. P. Jacobson, P. Schmeling, 1993, American journal of human genetics.

Two‐tiered DNA‐based diagnosis of transthyretin amyloidosis reveals two novel point mutations

P. Dyck, S. Sommer, S. Minnerath, 1991, Neurology.

From molecular variant to disease: initial steps in evaluating the association of transthyretin M119 with disease.

S. Sommer, J. Sobell, Setsuko Ii, 1992, American journal of human genetics.

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

F E Preston, P G Mori, S S Sommer, 1995, Blood.

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

S. Sommer, Jinong Feng, W. Scaringe, 2002, Human mutation.

Missense mutations and evolutionary conservation of amino acids: evidence that many of the amino acids in factor IX function as "spacer" elements.

S S Sommer, S. Sommer, C. Bottema, 1991, American journal of human genetics.

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

E. Thorland, J. Heit, S. Sommer, 1998, Human mutation.

The rates and patterns of deletions in the human factor IX gene.

E. Thorland, S. Sommer, R. Ketterling, 1994, American journal of human genetics.

Application of DNA-based diagnosis to patient care: the example of hemophilia A.

S. Sommer, J. Sobell, 1987, Mayo Clinic proceedings.

Human germline mutation in the factor IX gene.

W A Scaringe, S S Sommer, K A Hill, 2001, Mutation research.

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

E. Thorland, S. Sommer, Jing-zhong Liu, 2000, Human mutation.

The pattern of factor IX germ-line mutation in Asians is similar to that of Caucasians.

S. Sommer, C. Bottema, R. Ketterling, 1990, American journal of human genetics.

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

S. Sommer, D. Koeberl, R. Ketterling, 1991, Human Genetics.

The factor IX gene as a model for analysis of human germline mutations: an update.

S. Sommer, R. Ketterling, Steve S. Sommer, 1996, Human molecular genetics.

Recent human germ-line mutation: inferences from patients with hemophilia B.

S. Sommer, 1995, Trends in genetics : TIG.

An in-frame deletion in the alpha(2C) adrenergic receptor is common in African--Americans.

L. Peltonen, N. Craddock, L. DeLisi, 2001, Molecular psychiatry.

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

J. Mendell, J. D. den Dunnen, S. Sommer, 2005, Human mutation.

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

S. Sommer, K. Hill, J. Longmate, 2004, Environmental and molecular mutagenesis.

Evidence for X-Chromosomal Schizophrenia Associated with microRNA Alterations

Jin Yan, John Rossi, Guihua Sun, 2009, PloS one.

Comprehensive scanning of the ATM gene with DOVAM‐S

O. Sanal, R. Gatti, S. Sommer, 2003, Human mutation.

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

Charles E. Schwartz, Edwin H. Cook, Jin Yan, 2006, Neuroscience Letters.

Neurexin 1α structural variants associated with autism

C. Skinner, C. Schwartz, S. Sommer, 2008, Neuroscience Letters.

Delineation of genetic predisposition to multifactorial disease: a general approach on the threshold of feasibility.

L. Heston, S. Sommer, J. Sobell, 1992, Genomics.

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

S. Sommer, K. Noltner, J. Weitzel, 2009, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

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

Hanlin Gao, S. Sommer, M. Browning, 2008, American journal of medical genetics. Part A.

Epidemiology of Doublet/Multiplet Mutations in Lung Cancers: Evidence that a Subset Arises by Chronocoordinate Events

S. Sommer, Jinong Feng, Jinong Feng, 2008, PloS one.

Frequency of recent retrotransposition events in the human factor IX gene

W A Scaringe, S S Sommer, K A Hill, 2001, Human mutation.

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

N. Craddock, G. Oliveira, E. Cook, 2005, Molecular Psychiatry.

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

S. Sommer, C. Kasper, S. Roberts, 2000, Human mutation.

How precisely can data from transgenic mouse mutation-detection systems be extrapolated to humans?: lesions from the human factor IX gene.

S. Sommer, R. Ketterling, Steve S. Somer, 1994, Mutation research.

Spontaneous multiple mutations show both proximal spacing consistent with chronocoordinate events and alterations with p53-deficiency.

S. Sommer, K. Hill, Jicheng Wang, 2004, Mutation research.

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

S S Sommer, S. Sommer, Jinong Feng, 2008, Oncogene.

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

J. Mendell, S. Sommer, T. Prior, 2001, Neurology.

Is Alu-mediated Recombination an Important Cause of Hemophilia?

S. Sommer, K. Hill, W. Scaringe, 2002, Thrombosis and Haemostasis.

High frequency of de novo mutations in Li–Fraumeni syndrome

D. Malkin, S. Sommer, K. Noltner, 2009, Journal of Medical Genetics.

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

D. Grozeva, N. Craddock, E. Green, 2010, Neuroscience Letters.

Familial deletion within NLGN4 associated with autism and Tourette syndrome

S. Sommer, J. Picker, J. Saldivar, 2008, European Journal of Human Genetics.

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

Kathleen A Hill, Kai Li, S. Sommer, 2007, Human mutation.

Germline mosaicism in a female who seemed to be a carrier by sequence analysis.

S. Sommer, C. Greenberg, R. Ketterling, 1995, Human molecular genetics.

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

L. Heston, S. Sommer, Jinong Feng, 2008, Biochemical and biophysical research communications.

Systematic screening for mutations in the glycine receptor α2 subunit gene (GLRA2) in patients with schizophrenia and other psychiatric diseases

L. Peltonen, N. Craddock, L. DeLisi, 2001, Psychiatric genetics.

Spontaneous mutations in lacI-containing lambda lysogens derived from transgenic mice: the observed patterns differ in liver and spleen.

J. Short, S. Sommer, K. S. Lundberg, 1994, Mutation research.

Search for mutations in the beta 1 GABAA receptor subunit gene in patients with schizophrenia.

H. Coon, M. Hoff, L. Heston, 1994, American journal of medical genetics.

APP mutations and schizophrenia

L. Heston, S. Sommer, J. Sobell, 1993, Biological Psychiatry.

Dopamine D4 receptor variants in unrelated schizophrenic cases and controls.

L. Heston, S. Sommer, J. Sobell, 1993, American journal of medical genetics.

p53 As a mutagen test in breast cancer

S. Sommer, K. Hill, 2002, Environmental and molecular mutagenesis.

Analysis of the neuroligin 4Y gene in patients with autism

E. Cook, C. Skinner, C. Schwartz, 2008, Psychiatric genetics.

High frequency of p53 gene mutations in primary breast cancers in Japanese women, a low-incidence population.

J. Cunningham, A. Hartmann, J. Kovach, 1996, British Journal of Cancer.

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.

J. Haavik, S. Sommer, K. Hill, 1997, Mutation research.

Missense Mutations in the MEFV Gene Are Associated with Fibromyalgia Syndrome and Correlate with Elevated IL-1β Plasma Levels

S. Sommer, J. Shively, Jinong Feng, 2009, PloS one.

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

S. Thibodeau, L. Heston, N. Lindor, 1994, American journal of medical genetics.

The molecular epidemiology of p53 gene mutations in human breast cancer.

A. Hartmann, J. Kovach, H. Blaszyk, 1997, Trends in genetics : TIG.

Analysis of Cancer Mutation Signatures in Blood by a Novel Ultra-Sensitive Assay: Monitoring of Therapy or Recurrence in Non-Metastatic Breast Cancer

S. Sommer, Jinong Feng, L. Weiss, 2009, PloS one.

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

D. Seminara, J. Hopper, S. Thibodeau, 2005, JAMA.

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

S. Sommer, K. Hill, A. Halangoda, 2001, Environmental and molecular mutagenesis.

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

S. Sommer, P. Margaritis, K. High, 2007, Proceedings of the National Academy of Sciences.

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

S. Sommer, K. Hill, A. Halangoda, 1999, Environmental and molecular mutagenesis.

Three Ways of Combining Genotyping and Resequencing in Case-Control Association Studies

Garrett P. Larson, Theodore G. Krontiris, S. Sommer, 2010, PloS one.

Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls.

W. Bennett, M. Jung, A. Dritschilo, 2002, Cancer genetics and cytogenetics.

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

Jin Yan, Catarina Correia, Astrid M Vicente, 2007, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Analysis of Highly Conserved Regions of the 3’UTR of MECP2 Gene in Patients with Clinical Diagnosis of Rett Syndrome and Other Disorders Associated with Mental Retardation

G. Oliveira, S. Sommer, P. Maciel, 2008, Disease markers.

Detection of ultrarare somatic mutation in the human TP53 gene by bidirectional pyrophosphorolysis‐activated polymerization allele‐specific amplification

S. Sommer, Jinxiu Shi, Qiang Liu, 2007, Human mutation.

Identification of a missense mutation and several polymorphisms in the proenkephalin A gene of schizophrenic patients.

S. Sommer, C. McMurray, J. Sobell, 1996, American journal of medical genetics.

Assessment of multiple displacement amplification in molecular epidemiology.

S. Sommer, Jinong Feng, Jin Yan, 2004, BioTechniques.

Variants in the α2A AR adrenergic receptor gene in psychiatric patients

E. Cook, D. Goldman, L. Heston, 1998 .

Variants in the alpha2A AR adrenergic receptor gene in psychiatric patients.

E. Cook, D. Goldman, L. Heston, 1998, American journal of medical genetics.

Erratum: 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 Science of the USA (February 6, 1996) 93 (1093-1096))

D. Schaid, J. Cunningham, A. Hartmann, 1996 .

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

W A Scaringe, S S Sommer, S. Sommer, 1999, Human mutation.

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

N. Craddock, I. Jones, L. Heston, 2000, American journal of medical genetics.

Missense mutations and the magnitude of functional deficit: the example of factor IX

S. Sommer, R. Ketterling, E. Bowie, 1992, Human Genetics.

Germline mutations in the factor IX gene: a comparison of the pattern in Caucasians and non-Caucasians.

S. Sommer, C. Bottema, B. Gostout, 1993, Human Molecular Genetics.

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

N. Craddock, E. Cook, I. Jones, 2005, Neuroscience Letters.

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

S. Sommer, K. Hill, K. Gonzalez, 2008, Human molecular genetics.

ATM missense mutations are frequent in patients with breast cancer.

M. Jung, A. Dritschilo, S. Sommer, 2003, Cancer genetics and cytogenetics.

Absence of somatic ATM missense mutations in 58 mammary carcinomas.

A. Dritschilo, S. Sommer, Zefei Jiang, 2003, Cancer genetics and cytogenetics.

Large deletion detected with the Big Blue transgenic mouse mutagenesis assay.

S. Sommer, H. Nishino, V. Buettner, 1996, Mutation research.

Towards validation of the Big Blue transgenic mouse mutagenesis assay: the mutational spectrum of ex vivo pinpoint mutant plaques.

S. Sommer, H. Nishino, V. Buettner, 1996, Mutation research.

High plating density improves Big Blue system efficiency without loss of sensitivity.

S. Sommer, K. Hill, P. W. Heinmoeller, 2000, Mutation research.

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

S. Sommer, C. Kasper, W. Scaringe, 2000, Human mutation.

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

N. Craddock, E. Cook, I. Jones, 2005, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

VAPSE-based analysis: a two-phased candidate gene approach for elucidating genetic predisposition to complex disorders.

B. Weinshenker, S. Sommer, 2001, Mutation research.

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

S. Sommer, P. Maciel, Jinong Feng, 2005, Human mutation.

Single-tube method for determination of F508del genotype in the CFTR gene using bidirectional PCR amplification of specific alleles.

S. Sommer, F. Accurso, P. Maciel, 2003, BioTechniques.

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

S. Sommer, K. Hill, Wenyan Li, 2007, Human mutation.

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

S. Sommer, K. Hill, J. Longmate, 2005, Environmental and molecular mutagenesis.

Rapid and efficient screening for p53 gene mutations by dideoxy fingerprinting.

A. Hartmann, J. Kovach, H. Blaszyk, 1995, BioTechniques.