Steve Sommer, MD,PhD (S): Resume: **h/wk

626-***-**** adwk5e@r.postjobfree.com 4/16/23

SPECIALLY FOR DR STEHLIK-DORFLEUTNER FOR EXCITING GENETICS!

THIS DOCUMENT HAS THE GENERAL COVER LETTER…..FOLLOWED BY THE RESUME

I APOLOGIZE FOR THE DIFFERENT FONTS AND SIZES OF THE PRINT! I AM HAVING PROBLEMS W/ MY COMPUTER

DO LOOK AT THE UNDERLINED MATERIALS CAREFULLY.

BOTTOM LINES: I WILL CONDUCT THE PROPOSAL THAT YOU DESIRE FOR 40H. I WILL LIKE THAT. I WILL THEN WILL WORK ON GRANTS AND PAPERS FOR YOU …AGAIN FOR YOU…ANOTHER 20 HOURS WEEKLY. I WILL EXPLAIN WHY THIS MAY MAKE SENSE TO BOTH OF US. SEE THE SUMMARY OF HERE OF THIS COVER LETTER.

In summary:

1.I can learn much from you!

2.I did NOT have an extramural first NIH postdoc.

3.I am thin, healthy and I have 34 y on the research staff at Mayo Clinic, Rochester (11 y), City of Hope (11 y) and clinical staff as CEO/Chief Molecular Geneticist (12 )

4. I will soon marry a woman w/ 2 young kids and I will be the dominant financial raiser for 20+ y and then my wife and I will retire.

5.I will perform 40 h/wk performing all requests outlined by you…and 20 h/wk performing your new papers and your new grants with my feedback I would hope to earn something like $75-$90K per year.

6. I hope to do 5 years with at least as much pleasure at this position…and then I would hope to do another 15 years with you…and then retire. Alternatively, I would continue independently or partially independently in a position.

I AM AN MD, PHD IN MOLECULAR GENETICIST WITH EXPERTISE THAT INCLUDES ONCOLOGY, INVENTIONS, NEUROPSYCHIATRY, CLINICAL GENETICS, & SENIOR ADMINISTRATION. MY CLINICAL CERTIFICATIONS ARE IN 1) AMERICAN BOARD OF GENETICS & GENOMICS (ABMGG) DIPLOMAT IN CLINCAL GENETICS AND 2) ABMGG DIPLOMAT IN CLINICAL MOLECULAR GENETICS (DNA

EACH OF MY 3 ABOUT 11 Y EACH PREVIOUS JOBS WERE DIFFERENT. THIS HOPEFULLY 20Y OF THE 4TH JOB MAY WELL ALSO BE QUITE DIFFERENT. AMONG THE DIFFERENCES THIS JOB WILL BE FULLTIME WITH MANY WEEKS OF NO MORE THAN 60H/WK. IN CONTRAST (B) City of Hope WAS 80H/WK AND (A) MED. DIR./CEO WAS 95 H/WK. I AM MY OWN WORK “OVER-ADDICT”. DESPITE REPEATED ATTEMPTS TO CHANGE THAT I COULD NOT ACHIEVE WITHOUT THE PERFORMANCE RESULTS THAT I WANTED. I DON’T WANT THAT ANY MORE! NOW I WANT TO DO OTHER WORK FOR ANOTHER PERSON.

I TOOK 3 YEARS OFF W KEY FAMILY NOW NO LONGER CLOSE AROUND. I WILL NOW COMMIT MYSELF TO THE “NEW MASTER” TO DEVOTE MYSELF TO “THE BOSS AT WORK”. I MAY BRAG HERE FOR YOU, BUT I AM MOSTLY HUMBLE IN THE LAB. MY JOB IS TO SUPPORT YOU AS THE LEADER

THINGS THAT I PARTICULARLY LOVE ARE IMPROVEMENTS OF LAB WORK BY INVENTIONS, MEETING PRESENTATIONS, WRITING PAPERS AND NOW W YOUR GUIDENCE, GRANT WORK (20+ SUCCESSFUL $250+K OFTEN ANNUAL PAST GRANTS), AND SOME SUPERVISORY ADMIN WORK. I GET MY BOSS’ CRITICAL WORK DONE .

IN MY 23 Y OF INDEPENDENT PEER-REVIEWED PUBLICATIONS AT MAYO CLINIC AND CITY OF HOPE: I WAS FIRST OR LAST AUTHOR ON 5 NATURE AND 4 SCIENCE PUBS (0.39 PER AVE. YEAR), WITH THE EXTRA GENERAL OF 3 PNAS & 4 LANCET THERE, ARE 0.70 GENERAL INTEREST PER AVE. PUB YEAR, 22 GOOD INVENTION JOURNALS (0.96 PER AVE.YEAR), 5 ONCOGENE PUBS (0.22 AV PER Y), 8 GOOD CLINICAL PUBS (0.35 AVE. PER Y), 54 GOOD GENETICS PUBS, INCLUDING 17 AM. J OF HUMAN GENETICS J (2.35 AVE PUB PER Y). ACCEPTANCE TO TOP JOURNALS DEAL WITH BOTH THE QUALITY OF THE SCIENCE & THE MANNER IN WHICH THE WORK IS WRITTEN. I ALSO HAVE RELATIONSHIPS W/ CERTAIN EDITORS, ESPECIALLY WITH SOME OF THE GENERAL INTEREST JOURNALS. NEW PAPERS WILL BE ALL WRITTEN COLLABORATVELY.

I PICK UP THINGS FAST! I AM HEALTHLY, I am romantically engaged (& we both will work on raising her youngish children together w/ me as the main breadwinner), & SHOULD HAVE 20 Y OF WORK AVAILABLE, AND REQUIRED FOR MY FAMILY! ALTHOUGH I HAVE TO KEEP WORK DOWN TO OFTEN ABOUT 60H PER WEEK. I WOULD LIKE TO EARN SOMETHING LIKE $75K-$90K YEARLY FOR YOU

RESUME

EMPLOYMENT HISTORY OF 34 YEARS:

I am an MD, PhD Cornell Medical/ Rockefeller U, NYC (graduated 1979), STEVE I have had 3 different jobs in the past 34 years:

A.Business CEO & Clinical DNA Diagnostician of a small specialized company (9 people). I most enjoyed especially analyzing the bioinformatics and subsequent literature etc. relating the clinical reports. MedGomics, In Azusa, Ca, 7/2008—3/2019

B.Much administration Double Department Chair leading 50% research methods, oncology, neuropsychiatry, teaching, & administration and 50% Clinical DNA Diagnosis, including inventing many novel tests (70 people total), City of Hope, Duarte, Ca, 9/1996—6/2008, and

C.80% research Professor/20% Molecular Geneticist (14 people), Mayo Clinic, Rochester, MN 8/1985—8/1996

PROFESSIONAL PROFILE W/ CURRENT GOALS:

This MD, PhD, has spent 34 y in 3 jobs described below. Each had similarities and major differences including:

A.CEO leading the most comprehensive U.S. DNA diagnosis of autism and/or related mitochondrial disease and epilepsy. I especially focused on testing bioinformatics and subsequent literature analysis, consulting to families, including possible therapy to explore…..as well as overseeing patient recruitment and test payment.

I. Most Autism Diagnosis of gene # diagnosis in the US

II. Most Mitochondrial Diagnosis of gene # diagnosis of the US.

Gene # was diagnosed incrementally w time.

Also the many aspects for a small CEO activities for 9 people, including Company financing, Company growth/diversification, personnel issues and motivation, etc;

B.COH: Academic Research and DNA Diagnosis Dept. Chairs x2.

I.Research i) major Methods development, ii) Cancer mutagenesis and iii) neuropsychological sene schizophrenia research, as well as teaching students for the research Dept and

II.Developing multiple novel US tests in diverse Cancer and Neuroscience plus leading efforts to insurance, funding, and substantial administration;

C.Mostly leading a research leading position (80%). Most of the program evaluated different mutation patterns in normal tissues and associated cancers and evaluated Hemophilia B mutations in different populations. 20% were the first two groups who performed comprehensive mutation Clinical analysis in hemophilia A and B patients.

D.In all my jobs, I have written more than 300 peer reviewed, mostly last authored, mostly collaborative publications. I wrote many successful grants. I have 15 mostly Methods patents.

Education:

B.A., University of Pennsylvania, Philadelphia, PA

Cornell MD-Rockefeller PhD combined, M.D., Ph.D. Fellowship

Ph.D. received - Rockefeller University, New York, NY (Molecular Biology)

M.D. received - Cornell University Medical College, New York, NY

Residencies and Clinical Fellowships

Resident, Surgical Pathology and Postmortem Section, Dr. Jose Costa, Chief; Laboratory of Pathology, Dr. Alan S. Rabson, Chief; National Cancer Institute, National Institutes of Health, Bethesda, MD

Multicenter Individual Fellowship in Clinical Genetics; sponsors, Dr. James Sidbury, Jr., Chief, Section on Developmental Biology and Human Nutrition, National Institute of Child Health and Human Development and Dr. Joseph Schulman, Chief of Clinical Genetics, National Institutes of Child Health and Human Development, Bethesda, MD

Research Fellowships

Medical Staff Fellow, Section of the Genetics of Simple Eukaryotes, Dr. Reed Wickner, Chief; Laboratory of Biochemical Pharmacology, National Institute of Arthritis, Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD. Research area: molecular genetics of virus-like particles in yeast.

Licensure and Certifications:

Medical Licenses in California

American Board of Medical Genetics and Genomics (ABMGG):

ABMGG Diplomat in Clinical Genetics

ABMGG Diplomat in Clinical Molecular Genetics

SKILLS INCLUDE:

IN ADDITION TO THE CORE PROFESSIONAL SKILLS DISCUSSED IN THIS RESUME, I WANT TO ELUCIDATE CERTAIN SKILLS:

ON TIME, RARELY SICK, LISTENING CAREFULLY, METHOD/TEST DEVELOP.

FOCUSED WORKER RAPID SUCCESS ORIENTATION, CANCER RESEARCH

MOTIVATIONAL SUPERVISION, WRITE WELL NEUROPSYCH. RESEARCH

IMPROVING FUNDING 20+ SUCCESSFUL GRANTS RESEARCH W HUMANS/MICE

MOTIVATING CREATIVY AMONG STAFF, TEACHING COURSES LEARN THINGS QUICKLY

WITH MY HUMOR & OTHER TOOLS HELPING LECTURE WELL EXCELLENT MATH SKILLS

TO GENERATE AN UPBEAT ENVIRONMENT, GOOD NEGOTIATING SKILLS ENJOY SERVING CLIENTS

RECOGNIZING SUCCESSES BY OTHERS, CAREFUL TEST ANALYSIS MAKE CLIENTS LAUGH

Patents: 15 US patents plus also multiple international patents

For earlier inventions, I did not believe in patents for inventions,so I erroneously did I did not file them.

No. 5194600 (3/16/93): Genes, which participate in beta-glucan assembly and use thereof.

No. 6027913 (2/22/00): Nucleic acid amplification with direct sequencing.

No. 6207425 (3/27/01): Bidirectional PCR amplification of specific alleles.

No. 6287441 (9/11/01): Multi Conditional SSCP (SSCPs): A rapid method for mutation scanning with virtually

100% sensitivity.

No. 6312905 (11/29/01): Method for detecting mutations in nucleic acids.

No. 6361949 (3/26/02): Nucleic acid amplification with direct sequencing.

No. 6376193 (4/23/02): Single tube PCR assay for detection of chromosomal mutations: application to the

inversion hotspot in the factor VII) gene including optional use of sub cycling PCR.

No. 200-***-**** (5/9/03): Pyrophosphorolysis Activated Polymerization (PAP).

No. 6534269 (3/18/03): Method for detecting mutations in nucleic acids.

No. 7105298 (9/12/06): Serial Coupling of Restriction Cleavage and Extension for Nucleic Acid Amplifications.

No. 7141153 (11/28/06): PK-matched running buffers for gel electrophoresis.

No. 7238480 (7/03107): Pyrophosphorolysis activated polymerization (PAP): application to allele-specific

amplification and nucleic acid sequence determination.

No. 7449561 (12/11108): Alterations in the dystrophin gene associated with sporadic dilated cardiomyopathy.

First gene testing by City of Hope and then Medgomics. We were the first to initiate gene test by a CLIA lab major

Diagnostic lab in the US. These tests then became widely used.

A.Cancer

MSH6 Full Mutation Analysis (HNP-MSH6) – CMDL 06/04/02

ATM Gene Full Mutation Analysis (ATM-MS) – CMDL 10/20/03

EGFR Mutation Analysis (EGFR-KD) – CMDL 09/20/04

RD-PCR for MSH6 (RD-MSH6) – CMDL 02/13/06

CHEK2 Gene, Full Mutation Analysis, Proband (CHEK2-SEQ) – CMDL 03/22/06

B.Neuropsychiatric Disease

NLGN3 and NLGN4 Genes, Full Mutation Analysis (NLGN3/4-SQ) – CMDL 05/11/04

DLG3 Gene, Full Mutation Analysis, Proband (DLG3-SEQ) – CMDL 03/16/05

MRX-Panel, Full Mutation Analysis, Proband – CMDL 06/10/05

STK9 Gene, Full Mutation Analysis (STK9-SEQ) – CMDL 07/13/05

FMR1 Gene, Full Mutation Analysis, Proband (FMR1-SEQ) – CMDL 01/24/06

Mitochondrial chromosomal mutations x 23 genes – Medo/MEDG 02/15/11 - 08/1/13

Autism chromosomal genes x 26 genes – MEDo/MEDG 07/21/12 – 04/12/17

C.Other

Factor VIII Proband Analysis, Mutation Scan (F8PBMS) – CMDL 10/05/98

Fibrillin Full Mutation Analysis (FBN1-SEQ) – CMDL 05/04/04

Von Willebrand Factor, Full Mutation Analysis, Proband (VWF-SEQ) – CMDL 02/16/06

ATRX Gene, Full Mutation Analysis, Proband (ATRX-SEQ) – CMDL 04/28/06

Mitochondrial plasmid mutations at 0.1-2% of the gene x 14 genes – Medo/MEDG 02/02/09

Selected Publications: Steve S. Sommer, MD, PhD

Introduction:

300+ papers are published by me. Papers are preferentially chosen HERE for this list to make novel points about often interrelated methodology, mutagenesis, cancer and neuropsychiatrins. A MINORITY OF PAPERS ARE CHOSEN.HERE. SignificantLY, I am almost always the final author, while the penultimate author is often the senior collaborator from another lab.

1988

Genomic amplification with transcript sequencing.

18. Stoflet, E.S., Koeberl, D.D., Sarkar, G. and Sommer, S.S.: Science 239:491-494, 1988.

1989

Are tissues a patch quilt of ectopic gene expression?

25. Sommer, S.S., and Sarkar, G.: Science 246:261,1989.

Access to a messenger RNA sequence or its protein product is not limited by tissue or species specificity.

27. Sarkar, G., and Sommer, S.S.: Science 244:331-334,1989.

Direct carrier testing in 14 families with (hemophilia B).

28. Bottema, C.D.K., Koeberl, D.D., and Sommer, S.S.: The Lancet ii:526-529, 1989.

Laboratory Practices

31. Sommer, S.S.: Nature 347:583, 1990.

The pattern of factor IX germline mutations in Asians is similar to that of Caucasians.

39. Bottema, C.D.K., Ketterling, R.P., Yoon, H-S., and Sommer, S.S.: American Journal of Human Genetics 47:835-841, 1990.

1990

Mutagen test.

40. Sommer, S.S.: Nature 346:22-23, 1990.

Shedding light on PCR contamination.

43. Sarkar, G., and Sommer, S.S.: Nature 343:27, 1990.

More light on PCR contamination.

48. Sarkar, G., and Sommer, S.S.: Nature 347:340-341,1990.

1991

Founder effect of a prevalent PKU mutation in the Oriental population.

54. Wang, T., Okano, Y., Eisensmith, R.C., Harvey, M.L., Lo, W.H.Y., Yuan, L-F., Huang, S-Z., Zeng, Y-T., Furuyama, J-I., Oura, T., Sommer, S.S., and Woo, S.L.C.: Proc. National Academy of Science USA 88:2146-2150,1991.

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

57. Bottema, C.D.K., Ketterling, R.P., Ii, S., Yoon, H-S., Phillips, J.A, III, and Sommer, S.S.: Amer. Jour. of Hum.Gene.49:820-38,1991.

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

58. Bottema, C.O.K., et al…Phillips, lA, III, and Sommer, S.S.: American Journal of Human Genetics 49:839-850, 1991.

TG or not TG?

60. Sommer, S.S.: Nature 353:468,1991.

Haplotyping by double PCR amplification of specific alleles.

62. Sarkar, G., and Sommer, S.S.: BioTechnigues 10(4): 436-440,1991.

Direct sequencing from touch preparations of human carcinomas: analysis of p53 mutations in breast

carcinomas.

65. Kovach, J.S., et al…Vogelstein, B., and Sommer, S.S.: Journal of National Cancer Institute 83:1004-1009,1991.

1992

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

70. Sommer, S.S., et al…Wold, L.E., Kovach, J.S.: Journal of the National Cancer Institute. 84:246-252, 1992.

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

80. Sobell, J.L., Heston, L., and Sommer, S.S.: Genomics 12:1-6, 1992.

PCR amplification of specific alleles.

81. Sommer, S.S.: Science 255:514, 1992.

1993

A postulated mechanism for deletions with inversions.

87. Sommer, S.S. and Ketterling, R.P.: American Journal of Human Genetics 52:1016-1018,1993.

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

sequence.

91. Jacobson, D.P., Schmeling, P., and Sommer, S.S.: American Journal of Human Genetics 53:443-450, 1993.

Genotype relative risks: methods for design and analysis of candidategene association studies.

98. Schaid, DJ., and Sommer, S.S.: American Journal of Human Genetics 53:1114-1126,1993.

Novel association approach for determining the genetic predisposition to schizophrenia: case-control resource and testing of the first candidate gene.

104. Sobell, J.L., Heston, L.L., and Sommer, S.S.: Amer. Jour. of Med. Genetics (Neuropsychiatric Genetics) 48:28-35, 1993.

1994

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

109. Ketterling, R.P., Vielhaber, E.L., Lind, TJ., Thorland, E.C., and Sommer, S.S.: Amer. Journal of Human Genetics 54:201-213, 1994.

Does cancer kill the individual and save the species?

111. Sommer, S.S.: Human Mutation 3:166-169,1994.

Novel pattern of p53 gene mutations in an American black cohort with high mortality from breast cancer.

120. Blaszyk, H., Vaughn, C.B., Hartmann, A., McGovern, R.M., Schroeder, J.J., Cunningham, J., Schaid, D., Sommer, S.S., and Kovach, J.S.: Lancet 343:1195-1197,1994.

p53 gene mutations in breast cancers in Midwestern U.S. women: null as well as missense-type mutations are associated with poor prognosis.

122. Saitoh, S., Cunningham, J., DeVries, E.M.G., McGovern, R.M., Schroeder, J.J., Hartmann, A., Blaszyk, H., Schaid, D., Sommer, S.S.,

and Kovach, J.S.: Oncogene 9:2869-2875, 1994.

Comparison of statistics for candidate-gen association studies with case and parents.

127. Schaid, D.J., and Sommer, S.S.: American Journal of Human Genetics 55 :402-409, 1994.

S311C D2DR variant: no association with schizophrenia.

129. Sobell, J.L., Sigurdson, D.C., Heston, L.L., and Sommer, S.S.: Lancet 344:621-622, 1994.

1995

Are some apparently simple deletions actually two concerted deletions that result from interacting RY(i) hairpin loops?

132. Ketterling, R.P., Liao, D., and Sommer, S.S.: American Journal of Human Genetics 56:343-346,1995.

p53 gene mutations inside and outside of exons 5-8: the patterns differ in breast and other cancers.

133. Hartmann, A, Blaszyk, H. McGovern, et. al…, and Sommer, S.S.: Oncogene 10:681-688, 1995.

1996

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

149. Kovach, 1.S., et al… Schaid, D.,Sommer, S.S.: Proc. Nat’l. Acad. of Science USA 93:1093-1096,1996.

Evidence for diverse mutagens in breast cancer-.

156. Blaszyk, H., Hartmann, A, Liao, D-z., Kovach, 1.S., and Sommer, S.S.: Lancet 348: 683-684, 1996.

Molecular epidemiology of breast cancers in northern and southern Japan: the frequency, clustering, and pattern of p53 gene mutations differ among these two low-risk populations.

159. Blaszyk, H., et al…Kovach, J.S., Sommer, S.S.: Oncogene 13:2159-2166, 1996.

1999

REF Select: Expert system software for selecting restriction endonucleases for restriction endonucleas fingerprinting (REF).

217. Scaringe, W.A, Liao, D., Liu, Q., and Sommer S.S.: BioTechnigues 27(6): 1188-90, 1192-7, 1999.

Pyrophosphorolysis-activated polymerization (PAP): application to allele specific amplification.

227. Liu, Q., and Sommer, S.S.: Biotechniques 29: 1072-1083,2000..

2006

Preferential occurrence of 1-2 microindels.

282. Hill, K.A., Gonzalez, K.D., Scaringe W.A, Wang, J.C., Sommer, S.S.: Human Mutation. 27(1):55-61, 2006.

2007

Database of EGFR somatic mutations in lung cancer: microindel hotspots, no mutagen signature of smoking and elevated

microdeletions/microindels in responders to tyrosine kinase inhibitors.

289. Gu, D., Scaringe, W.A, et. al…, and Sommer, S.S.: Human Mutation. 28:760-770,2007.

Evidence for Mutation Showers.

290. Wang, J., Gonzalez, K.D., et. al…, and Steve S. Sommer; PNAS, 104(20):8403-8408, 2007.

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

291. Yang, C., Feng, r., et. al…, and Sommer, S.S.: PNAS. 104(39):153**-*****,2007.

2008

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.

300. Chen, Z., Feng, L, Saldivar, lS., Gu, D., Bockholt, A, Sommer, S.S., Oncogene 27:31,4336-4343,2008

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