NAME: Soma Das (neé Nasipuri)
DATE & PLACE OF BIRTH: September 21, 1964; W. Bengal, India
OFFICE ADDRESS: Department of Human Genetics
University of Chicago
5841 S. Maryland avenue
Chicago, IL 60637
Telephone: (773) 834-1036
Fax: (773) 834-5337
1985 B.Sc. in Health Sciences
University of Ife, Ile-Ife, Nigeria
1987 M.Sc. in Medical Genetics
University of Glasgow, Glasgow, UK
1991 Ph.D. in Biology
University College London, London, UK
1996 The American Board of Medical Genetics
Diplomate in Clinical Molecular Genetics
(Re-certification exam taken in March 2006)
1991-1995 Post-doctoral Fellow, Howard Hughes Medical Institute
University of California San Francisco
1993-1995 Clinical Molecular Genetics Fellow, Department of Pediatrics
University of California San Francisco
1996.1998 Assistant Professor, Department of Obstetrics and Gynecology
University of Chicago
1998-2005 Assistant Professor, Department of Human Genetics
University of Chicago
1997-present Associate Investigator, Cancer Research Center
University of Chicago
2005-present Associate Professor, Department of Human Genetics
University of Chicago
2005-present Associate Professor, Committee on Clinical Pharmacology and Pharmacogenomics
University of Chicago
MAJOR ADMINISTRATIVE/ACADEMIC RESPONSIBILITIES:
1996-present Director, Molecular Diagnostic Laboratory
Department of Human Genetics, University of Chicago
1997-1999 DNA based Diagnosis Subcommittee member, GLaRGG
1999 Scientific Reviewer for the United States Army Medical Research and Materiel
Command, Breast Cancer Research Proposals
2000-2003 Co-Director, Center for Clinical Cancer Genetics, University of Chicago
2002 Co-Chair of a conference organized by the University of Chicago, Center for Clinical
Cancer Genetics on ‘Cancer Control through Genetics: A Practical Approach’, a
conference organized to educate physicians and other health care workers of the role of
genetics in the care of cancer patients, in the Chicagoland and neighboring areas.
2004 Moderator, Molecular Genetics Session, Annual meeting of the American College of
2004 Member of the Rare Disorders Workgroup working to develop standard and guidelines
for Rare Disease genetic testing through the American College of Medical Genetics
Quality Assurance Committee
2004-present Member of the National Laboratory Network for Rare Disease Genetic Testing (one of
six founding members), a group of laboratories committed to the development of orphan
2005-present Program committee member, American College of Medical Genetics (Chair elect,
2007 Member of the National ‘Interpretation of Sequence Variants’ Workgroup
2007 Ad Hoc member of the Committee on Appointments and Promotions (COAP),
University of Chicago
2007-2008 Department of Human Genetics Faculty search committee member, University of
1994-1995 Graduate course in Medical Genetics for 1st year medical students, University of
California, San Francisco (team taught)
2001 Postgraduate course in Human Genetics (HG 470), University of Chicago (team
2001 Undergraduate course in Human Molecular Genetics (BioSci 206) an elective course
for 3rd year students, University of Chicago (team taught)
1997-Present Graduate course in Medical Genetics (MG 339) for 1st year medical students,
University of Chicago (team taught)
2001-Present Graduate course in Medical Genetics (Application of scientific genetic advancements
to disease detection and management) an elective course for 4th year medical students,
University of Chicago (team taught)
2002-Present Pathology training conference for pathology residents as part of the pathology
residency program, University of Chicago (team taught)
2003-Present Topics in Human Genetics, lecture series for clinical genetics, clinical molecular
genetics and clinical cytogenetics fellows as part of the clinical genetics training
program, University of Chicago (team taught)
SUPERVISION OF FELLOWS, RESIDENTS & STUDENTS:
1998-1999 Dr. Helga Salvesen, visiting M.D. from Bergen, Norway, and Ph.D. student at
University of Bergen, worked in my laboratory towards completion of Ph.D.
Degree (currently Professor of Gynecology and Obstetrics, University of Bergen)
1999-2000 Obstetrics and Gynecology Fellows Laboratory Rotations in Molecular Genetics
2000 Valencia D. Thomas, final year medical student, University of Chicago,
performed research project in my laboratory as part of a senior selective research
2000 Paula Gruber, graduate student in Biochemistry visiting from Buenos Aires,
Argentina, worked in my laboratory towards the completion of her graduate
2001-2004 Dr. Gordana Raca, Ph.D., trainee for clinical molecular genetics fellowship,
University of Chicago (Board certified in clinical molecular genetics in 2005 and
currently Assistant Professor, Dept. of Pathology and Laboratory Medicine and
Assistant Director, University of Wisconsin Genetic Services Laboratory,
Wisconsin State Laboratory of Hygiene)
2003 Dr. Jeff Chappa, M.D., trainee for clinical genetics fellowship, University of
Chicago (currently Faculty member at Case Western Reserve University)
2002-Present Pathology Residents Laboratory Rotations in Molecular Genetics
2004-2006 Dr. Asem Alkhateeb, Ph.D., trainee for clinical molecular genetics fellowship,
University of Chicago (currently Assistant Professor, Jordan University of
Science and Technology)
2006-Present Genetic counseling students Laboratory Rotations in Molecular Genetics
2006-Present Dr. Eden Haverfield, D. Phil., trainee for clinical molecular genetics fellowship,
University of Chicago
2007-Present Dr. Shaochun Bai, Ph.D., trainee for clinical molecular genetics fellowship,
University of Chicago
2007-Present Dr. Shalini Reshmi, Ph.D., trainee for clinical molecular genetics fellowship,
University of Chicago
INVITED LECTURES / PRESENTATIONS:
1994 ‘Mutation analysis in thirteen patients with Menkes disease’ – presented at the VI International
Congress on Inborn Errors of Metabolism, Milano, Italy
1995 ‘From Menkes disease to Occipital Horn syndrome: Molecular analysis of the MNK1 gene’ –
presented at the Pediatrics day retreat, Department of Pediatrics, University of California,
1995 ‘The Molecular basis of Menkes disease and Occipital Horn syndrome’ – presented at the
Genetics Day retreat, Department of Biochemistry and Biophysics, University of California San
1996 ‘The Human Genome’ - presented to the ‘Know Your Chicago’ group, as part of an effort by the
University of Chicago to educate on how the information highway is supporting health care
1997 ‘DNA Based Diagnosis: Application for Disease Detection and Carrier Identification’ - presented
at ‘Genetics: A family affair’, an annual conference organised by the Illinois department of
Public Health, Oak Brook, Illinois
1998 ‘Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-PCR’ – presented
at the annual meeting of the Association of Genetic Technologists, Indianapolis, Indiana
1999 ‘DNA testing for Genetic Disorders’ - presented at ‘update on clinical genetics’ conference,
organised by the Department of Obstetrics and Gynecology, University of Chicago, Tinley Park,
1999 ‘Methylation-PCR and direct sequencing for molecular diagnosis of genetic diseases’ - presented
at the annual meeting of the Genetic Task Force of Illinois, Chicago, Illinois
1999 ‘Molecular Genetics for the Clinician’ – presented at the Chicago Area Schools of Medicine,
Obstetrics and Gynecology review course, Chicago, Illinois
1999 ‘Donor liver UDP-Glucoronosyltransferase-1 deficiency causing Gilbert’s syndrome in liver
transplant recipients – presented at the annual American Society of Transplant Physicians
conference, Chicago, Illinois
1999 ‘The PTEN gene is methylated in endometrial carcinoma and associated with advanced disease
and microsatellite instability – presented at the annual American Society of Human Genetics
conference, San Francisco, California
2000 ‘Update on Genetic Testing’ – presented at Grand Rounds, Department of Obstetrics and
Gynecology, University of Chicago
2000 ‘Orphan Genetic Disease – making testing a reality’ – presented at the American College of
Medical Genetics Annual Clinical Genetics Meeeting, Palm Springs, California
2001 ‘DNA Testing in Clinical Practice’ – presented at the annual Midwest Clinical Conference
2001, organized by the Chicago Medical Society, Chicago, Illinois
2001 ‘DNA Based Diagnosis: Application for Disease Detection and Carrier Identification’ – presented
at ‘Genetics: A family affair’, an annual conference organized by the Illinois Department of
Public Health, Oak Brook, Illinois
2002 ‘DNA Based Diagnosis: Application for Disease Detection and Carrier Identification for
Expanded Newborn Screening’ – presented at ‘Genetics: A family affair’, an annual conference
organized by the Illinois Department of Public Health, Oak Brook, Illinois
2002 ‘Status of Genetic Tests: Clinical vs Research’ – presented at ‘Cancer Control through Genetics:
A Practical Approach’, a conference organized by The University of Chicago, Center for Clinical
Cancer Genetics, Chicago, Illinois
2004 ‘Rare Orphan Genetic Disease Diagnostics – The University of Chicago Experience’ – presented
at ‘Promoting Quality Laboratory Testing for Rare Diseases: Keys to Ensuring Quality Genetic
Testing’, a meeting organized by the Centers for Disease Control and Prevention, Emory
University School of Medicine and the Office of Rare Diseases (NIH), Atlanta, Georgia
2005 ‘Orphan Genetic Disease Diagnostics – University of Chicago’ – presented at ‘Access to Quality
testing for rare diseases: A National Conference’, Rockville, Maryland
2006 ‘Special Considerations in Custom Mutation Analysis’ – presented at the American College of
Medical Genetics Annual Clinical Genetics Meeeting, San Diego, California
2006 ‘ARX and CDKL5 – Involvement in infantile spasms and other syndromes’ – presented at
Baylor College of Medicine Department of Molecular and Human Genetics seminar series,
2006 ‘Custom Mutation Analysis – Translation of Research Findings to the Diagnostic Arena’ –
presented at the Genetic Alliance 2006 Annual Conference, Rockville, Maryland
2006 ‘Molecular Diagnostic Laboratory Experience in Infantile Spasms’ – presented at Grand
Rounds, Department of Pediatrics, University of Chicago
2007 ‘Mutation Detection Methodology Updates in the Molecular Diagnostic Laboratory’ – presented
at an educational symposium organized by the Genetic Task Force of Illinois and the Illinois
Department of Public Health, Maywood, Illinois
2007 ‘Intragenic deletions and duplications of the LIS1 and DCX genes in patients with lissencephaly
and subcortical band heterotopia’ – presented at the 2007 American College of Medical
Genetics annual clinical genetics meeting, Nashville, Tennessee
Molecular basis of neurogenetic disorders
Genotype-phenotype correlation in neurogenetic disorders
Mutation detection methodologies
Pharmacogenetics – genotype-phenotype correlation and translation to diagnostic applications
DNA methylation in genetic disease and cancer
CLINICAL DIAGNOSTIC INTERESTS:
Diagnostics of rare orphan genetic disease
Development of methodologies for DNA diagnosis
Translation of research findings to diagnostic tests
NIH/NIGMS, U01- GM61393-07, 04/01/00-06/30/10, “Pharmacogenetics of Anticancer Agents Research
Group”, Soma Das, Ph.D., Co-Investigator (25% effort); Mark Ratain, MD., Principal Investigator,
Annual direct cost: $2,335,275
NIH, R01 NS046616-01A2, 02/15/05 – 12/31/08, ‘The Role of ARX in Normal and Abnormal Brain
Development’, Soma Das, Ph.D., Co-Investigator (4% effort); Jeffrey A. Golden, MD., Principal
Investigator, Annual direct cost: $135,837
NIH, NCI, P50- CA125183, 09/27/06 – 07/31/11, “SPORE in Breast Cancer”, Soma Das, Ph.D., Co-
Director, Biospecimen Core (10% effort); Funmi Olopade, MD., Principal Investigator, Annual direct
cost to Biospecimen core: $114,148
NIH/NCI, R21- CA115097-01A1, 05/15/06-04/30/08, “Busulfan Conditioning: Optimization, Kinetics,
Genomics”, Soma Das, Ph.D., Co-Investigator (5% effort); van Besien, Ph.D., Principal Investigator,
Annual Direct cost: $6,050
NBIA Disorders Association, 12/12/07 – 12/12/08, “Deletion and Duplication analysis of the PANK2 and
PLA2G6 genes in patients with neurodegeneration with brain iron accumulation” , Soma Das, Ph.D.,
Principal Investigator, Annual direct cost: $30,000
NIH, R01- MH52223-02, 9/30/95 - 4/30/01, “Genetic Study of Autistic Children and Adolescents”,
Soma Das, Ph.D., Co-Investigator (7% effort); E. Cook, MD., Principal Investigator, Annual direct cost:
American Cancer Society IRG-41-40, 11/01/98 – 10/31/99, “Methylation Analysis of the BRCA1 and
BRCA2 Genes in Breast Cancer”, Soma Das, Ph.D., Pricipal Investigator, Annual direct cost: $17,000
NIH, P01- NS39404, 4/1/99 - 3/31/04, “Lissencephaly: The Molecular Basis of Neuronal Migration”,
Soma Das, Ph.D., Co-Investigator (20% effort); William Dobyns, MD., Principal Investigator, Annual
direct cost for molecular genetics core: $80,000
NCI, R03-CA81652-01, 7/1/99 – 6/30/02, “Study of DNA methylation in Endometrial Cancer”,
Soma Das, Ph.D., Pricipal Investigator, Annual direct cost: $50,000
Angelman Syndrome Foundation, 9/1/02 – 8/31/03, “Molecular Analysis of Angelman Syndrome: The
Role of UBE3A Deletions”, Soma Das, Ph.D., Pricipal Investigator, Annual direct cost: $25,000
NIH, NCI, R01- CA89085-01A1, 9/1/02 – 8/31/07, “Genetics of Breast Cancer in Blacks”, Soma Das,
Ph.D., Co-Investigator (10% effort); Funmi Olopade, MD., Principal Investigator, Annual direct cost:
NIH NCI, 5 U10 CA31946-25, 4/1/06 – 3/31/07, ‘Cancer and Leukemia Group B’, Soma Das, Ph,D.,
Co-Director, Pharmacology Reference Laboratory (5% effort); Richard Schilsky, MD., Principal
Investigator, Annual direct cost to Pharmacology Reference Laboratory: $62,962
SN 09/429,499 “Methods and Compositions for Diagnosis of Fragile X Syndrome” – Soma Das and
American Journal of Human Genetics
Molecular Genetics and Metabolism
Genes Chromosomes and Cancer
Expert Review of Molecular Diagnostics
Pharmacogenetics and Genomics
American Society of Human Genetics
American College of Medical Genetics
Great Lakes Regional Genetics Group (GLaRGG)
Genetic Task Force of Illinois
Indian Science Congress
Original peer reviewed articles:
1. McBurney, MW, Reuhl, KR, Alley, AI, Nasipuri, S, Bell, JC & Craig, J. Differentiation and maturation
of embryonal carcinoma-derived neurons in cell culture. The Journal of Neuroscience, 8 (3), 1063-1073,
2. Cotter, FE, Nasipuri, S, Lam, G & Young, BD. Gene mapping by enzymatic amplification from flow-
sorted chromosomes. Genomics, 5 (3), 470-474, 1989.
3. Cotter, FE, Hampton, GM, Nasipuri, S., Bodmer, WF & Young, BD. Rapid Isolation of Human
Chromosome-Specific DNA probes from a Somatic cell Hybrid. Genomics, 7, 257-263, 1990.
4. Cotter, FE, Lillington, D, Hampton, G, Riddle, P, Nasipuri, S, Gibbons, B & Young BD. Gene mapping
by microdissection and enzyme amplification: Heterogeneity in leukaemia associated breakpoints on
chromosome 11. Genes, Chromosomes and Cancer, 3, 8-15, 1991.
5. Cotter, FE, Das, S, Douek, E, Carter, NP & Young, BD. The Generation of DNA probes to
Chromosome 11q23 by Alu PCR on small numbers of flow-sorted 22q derivative chromosomes.
Genomics, 9, 473-480, 1991.
6. Das, S, Cotter, FE, Gibbons, B, Dhut, S, & Young, BD. CD3G is within 200kb of the leukemic t(4;11)
translocation breakpoint. Genes, Chromosomes and Cancer, 3, 44-47, 1991.
7. Das, S, Kearney, L, Bower, M, Chaplin, T, Riley, H, Anand, R & Young, BD. Molecular cloning and
analysis of chromosome band 11q23 involved in leukaemia - associated translocations. Genes,
Chromosomes and Cancer, 5(3), 244-251, 1992.
8. Kearney,L, Bower, M, Gibbons, B, Das, S, Chaplin, T, Nacheva, E, Chessells, JM, Reeves, B, Riley, JH,
Lister, A, and Young, BD. Chromosome 11q23 translocations in both infant and adult leukemias are
detected by in situ hybridization with a yeast artificial chromosome. Blood, 80(7), 1659-1665, 1992.
9. Pan, Y, Metzenberg, A, Das, S, Jing, B and Gitschier, J. Mutations in the V2 vasopressin receptor gene
are associated with X-linked nephrogenic diabetes insipidus. Nature Genetics, 2, 103-106, 1992.
10. Nacheva, E, Kearney, L, Bower, M, Chaplin, T, Douek, E, Das, S, and Young, BD. In situ hybridisation
analysis of a homogeneously staining region at 11q23-q24 in an acute myeloid leukaemia (M5) using
yeast artificial chromosomes. Genes, Chromosomes and Cancer, 7(3), 123-127, 1993.
11. Bower, M. Chaplin, T, Das, S, Kearney, L, Gibbons, B, Riley, JH, Lister, TA, and Young, B. The
isolation of a yeast artificial chromosome which spans the chromosome 11q23 region involved in a
number of translocations in acute leukaemias. Leukemia, Supplement 2, S34-39, 1993.
12. Di Rienzo, A, Peterson, A, Das, S, and Freimer, N. Genome mapping by arbitrary amplification of yeast
artificial chromosomes. Mammalian Genome, 4(7), 359-363, 1993.
13. Metzenberg, AB, Pan, Y, Das, S, Pai, GS, and Gitschier, J. Molecular evidence that the p55 gene is not
responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and
dyskeratosis congenita. Letter (refereed) American Journal of Human Genetics, 54, 920-922, 1994.
14. Das, S, Metzenberg, A, Pai, GS, and Gitschier, J. Mutational analysis of the Biglycan gene excludes it
as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita and
incontinentia pigmenti. Letter (refereed) American Journal of Human Genetics, 54, 920-922, 1994.
15. Das, S and Gitschier, J. Identification of a TXREB pseudogene (TXREBP) located between the genes
for p55 (MPP1) and G6PD on Xq28. Genomics, 21, 275-278, 1994.
16. Das, S, Levinson, B, Whitney, S, Vulpe, c, Packman, S and Gitschier, J. Diverse mutations in patients
eith Menkes disease often lead to exon skipping. American Journal of Human Genetics, 55, 883-889,
17. Das, S, Levinson, B, Vulpe, C, Whitney, S, Gitschier, J and Packman, S. Similar splicing mutations of
the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.
American Journal of Human Genetics, 56, 570-576, 1995.
18. Das, S, Whitney, S, Taylor, J, Chen, E, Levinson, B, Vulpe, C, Gitschier, J and Packman, S. Prenatal
diagnosis of Menkes disease by mutation analysis. Journal of Inherited Metabolic Disease, 18, 364-365,
19. Kaler, S.G, Das, S, Levinson, B, Goldstein, D.S, Holmes, C.S, Patronas, N.J, Packman, S and Gahl,
W.A. Successful early copper therapy in Menkes disease associated with a mutant transcript containing a
small in-frame deletion. Biochemical and Molecular Medicine, 57, 37-46, 1996.
20. Levinson, B, Conant, R, Schnur, R, Das, S, Packman, S and Gitschier, J. A repeated element in the
regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome. Human
Molecular Genetics, 5:11, 1737-1742, 1996.
21. Kubota, T, Das, S, Christian, S, Baylin, S, Herman, J and Ledbetter, D. Methylation-specific PCR
simplifies imprinting analysis. Nature Genetics, 16, 16-17, 1997.
22. Das, S, Kubota, T, Song, M, Daniel, R, Berry-Kravis, Prior, TW, EM, Popovich, B, Rosser, L, Arinami,
T and Ledbetter, DH. Methylation analysis of the Fragile X syndrome by PCR. Genetic Testing, 1,
23. Iyer, L, Hall, D, Das, S, Mortell, MA, Ramirez, J, Kim, S, Di Rienzo, A and Ratain, MJ. Phenotype-
genotype correlation of in vitro SN-38 (active metabolite of irinotecan) and bilirubin glucuronidation in
human liver tissue with UGT1A1 promoter polymorphism. Clin. Pharmacol. Ther. 65(5):576-82, 1999.
24. Salvesen, HB, Das, S and Akslen, LA. Loss of nuclear p16 protein expression is not associated with
promoter methylation but defines a subgroup of aggressive endometrial carcinomas with poor prognosis.
Clin. Cancer Res. 6(1):153-9, 2000.
25. Te, HS, Schiano,TD, Das, S, Kuan, S, DasGupta, K, Conjeevaram, HS. and Baker AL. Donor liver UDP-
Glucuronosyltransferase-1A1 deficiency causing Gilbert’s syndrome in liver transplant recipients.
Transplantation, 69(9):1882-1886, 2000.
26. Das, S, Lese, CL, Song, M, Jensen, JL, Wells, LA, Barnoski, BL, Roseberry, JA, Camacho, JM,
Ledbetter, DH and Schnur, RE. Partial paternal uniparental disomy of chromosome 6 in an infant with
neonatal diabetes, macroglossia and craniofacial abnormalities. Am. J. Hum. Genet., 67:1586-1591,
27. Salvesen, HB, MacDonald, N, Ryan, A, Iversen, OE, Jacobs, IJ, Akslen, LA and Das, S. Methylation of
hMLH1 in a population-based series of endometrial carcinomas. Clin.Cancer Res., 6:3607-3613, 2000.
28. Gao, Q, Adebamowo, C, Fackenthal, J, Das, S, Sveen, L, Falusi, A and Olopade, O. Protein truncating
BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer. Hum. Genet.
29. Gao, Q, Tomlinson, G, Das, S, Cummings, S, Sveen, L, Fackenthal, J, Schumm, P and Olopade, O.
Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with
breast cancer. Hum. Genet. 107:186-191, 2000.
30. Cardoso, C, Leventer, RJ, Matsumoto, N, Kuc, JA, Ramocki, MB, Mewborn, SK, Dudlicek, LL, May,
LF, Mills, PL, Das, S, Pilz, DT, Dobyns, WB and Ledbetter, DH. The location and type of mutation
predict malformation severity in isolated lissencephaly caused by abnormalities within the LIS1 gene.
Hum. Mol. Genet. 9:3019-3028, 2000.
31. Navari, JR, Roland, PY, Keh, P, Salvesen, HB, Akslen, LA, Iversen, OE, Das, S, Kothari, R, Howey, S
and Phillips B. Loss of estrogen receptor expression in endometrial tumors is not associated with de
novo methylation of the 5’ end of the estrogen receptor gene. Clin. Can. Res. 6:4026-4032, 2000.
32. Salvesen, HB, MacDonald, N, Ryan, A, Jacobs, IJ, Lynch, E, Akslen, LA, and Das, S. PTEN
methylation is associated with advanced stage and microsatellite instability in endometrial carcinoma.
Int. J. Cancer., 91:22-26, 2001.
33. Matsumoto, N, Kuc, JA, Mewborn, SK, Dudlicek, LL, Ramocki, MB, Pilz, DT, Leventer, RJ, Mills, PL,
Das, S, Ross, ME, Ledbetter, DH and Dobyns, WB. Mutation analysis of the DCX (XLIS) gene and X
chromosome inactivation in females with subcortical band heterotopia. Eur. J. Hum. Genet. 9:5-12,
34. Ewesuedo RB, Iyer L, Das S, Koenig A, Mani S, Vogelzang NJ, Schilsky RL, Brenckman W, Ratain
MJ. Phase I clinical and pharmacogenetic study of weekly TAS-103 in patients with advanced cancer. J.
Clin. Oncol. 19:2084-2090, 2001.
35. Demelas, L, Serra, G, Matsumoto, N, Dudlicek, L, Mills, PL, Dobyns, WB, Ledbetter, DH and Das, S.
Incomplete penetrance with normal MRI in a woman with germline mutation of the DCX gene.
Neurology, 57: 327-330, 2001.
36. Steffanson, I, Akslen, LA, McDonald, N, Ryan, A, Das, S, Jacobs, IJ and Salvesen, HB. Loss of hMSH2
and hMSH6 expression is frequent in sporadic endometrial carcinomas with microsatellite instability: a
population-based study. Clin. Can. Res. 8:138-143, 2002.
37. Herman, G, Kopacz, K, Zhao, W, Mills, PL, Metzenberg, A and Das S. Characterization of mutations in
fifty north american patients with X-linked myotubular myopathy. Human Mutation. 19:114-121, 2002.
38. Das, S, Herman, G. (February 2002; updated October 2006) X-Linked Myotubular Myopathy. In:
GeneReviews: Genetic Disease Online Reviews at GeneTests-GeneClinics [database online]. Copyright,
University of Washington, Seattle. 1997-2006. Available at http://www.genetests.org.
39. Salvesen, HB, Stefansson, I, Kalvenes, MB, Das, S and Akslen, LA. Loss of PTEN expression is
associated with metastatic disease in patients with endometrial carcinoma. Cancer. 94(8):2185-2191,
40. Iyer, L, Das, S, Janisch, L, Wen, M, Ramírez, J, Karrison, T, Fleming, GF, Vokes, EE, Schilsky, RL
and Ratain, MJ. UGT1A1*28 polymorphism as a determinant of irinotecan disposition and toxicity. The
Pharmacogenomics Journal. 2:43-47, 2002.
41. Cardoso, C, Leventer, RJ, Dowling, JJ, Ward, HL, Chung, J, Petras, KS, Roseberry, JA, Weiss, AM,
Das, S, Martin, CL, Pilz, DT, Dobyns, WB and Ledbetter, DH. Clinical and molecular basis of classical
lissencephaly: mutations in the LIS1 gene (PAFAH1B1). Hum. Mutation. 19:4-15, 2002.
42. Poolos, NP, Das, S, Clark, GD, Lardizabal, D, Noebels, JL, Wyllie, E and Dobyns, WB. Males with
epilepsy, complete subcortcal band heterotopia, and somatic mosaicism for DCX. Neurology.
43. Innocenti F, Grimsley C, Das S, Ramirez J, Cheng C, Kuttab-Boulos H, Ratain MJ, Di Rienzo A.
Haplotype structure of the UDP-Glucuronosyltransferase 1A1 promoter and ethnic differences in linkage
disequilibrium. Pharmacogenetics. 12:725-733, 2002.
44. D’Agostino, MD, Bernasconi, A, Das, S, Bastos, A, Balerio, RM, Palmini, A, da Costa, C, Scheffer, IE,
Berkovic, S, Guerrini, R, Dravet, C, Ono, J, Gigli, G, Federico, A, Booth, F, Bernardi, B, Volpi, L,
Tassinari, A, Guggenheim, MA, Ledbetter, DH, Gleeson, JG, Lopes-Cendes, I, Vossler, DG, Malaspina,
E, Franzoni, E, Sartori, RJ, Mitchell, MH, Mercho, S, Dubeau, F, Andermann, F, Dobyns, WB and
Andermann, E. Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in
comparison with females. Brain. 125:2507-2522, 2002
45. Liu, W, Innocenti, F, Chen, P, Das, S, Cook, EH and Ratain, M. Interethnic difference in the allelic
distribution of human epidermal growth factor receptor (EGFR) intron 1 polymorphism. Clin. Cancer
Res. 9:1009-1012, 2003
46. Sawyer, M, Innocenti, F, Das, S, Cheng, C, Ramirez, J, Pantle-Fisher, FH, Wright, C, Badner, J, Pei, D,
Boyett, JM, Cook, E and Ratain, M. A pharmacogenetic study of UDP-glucuronosyltranferase 2B7 in
patients receiving morphine. J. Clin. Pharm. Ther. 73:566-574, 2003
47. Sicca, F, Kelemen, A, Genton, P, Das, S, Mei, D, Moro, F, Dobyns, WB and Guerrini R. Mosaic
mutations of the LIS1 gene cause subcortical band heterotopia. Neurology 61:1042-1046, 2003
48. Wu, MH, Chen, P, Remo, BF, Cook EH Jr, Das, S and Dolan ME. Characterization of multiple
promoters in the human carboxylesterase 2 gene. Pharmacogenet. 13:425-435, 2003
49. Guerrini, R, Moro, F, Andermann, E, Hughes, E, D’Agostino, D, Carrozzo, R, Bernasconi, A, Flinter, F,
Parmeggiani, L, Volzone, A, Parrini, E, Mei, D, Jarosz, JM, Morris, RG, Pratt, P, Tortorella, G, Dubeau,
F, Andermann, F, Dobyns, WB and Das, S. Non syndromic mental retardation and cryptogenic epilepsy
in females with DCX mutations. Annals of Neurol. 54:30-37, 2003
50. Kishi, S, Griener, J, Cheng, C, Das, S, Cook, EH, Pei, D, Hudson, M, Rubnitz, J, Sandlund, JT, Pui, CH
and Relling, MV. Homocysteine, pharmacogenetics, and neurotoxicity in children with leukemia. J.
Clin. Oncol. 21:3084-3091, 2003
51. Kato, M., Das, S., Petras, K., Sawaishi, Y. and Dobyns, WB. Polyalanine expansion of ARX associated
with cryptogenic West syndrome. Neurology. 61: 267-76, 2003
52. Klepper, J, Schaper, J, Raca, G, Coryell, J, Das, S, Hayflick, SJ. and Voit, T. Progressive dystonia in a
12-year-old boy. Eur J Paediatr Neurol. 7:85-8, 2003
53. Kishi, S, Yang, W, Boureau, B, Morand, S, Das, S, Chen, P, Cook, EH, Rosner, GL, Schuetz, E, Pui, C
and Relling, MV. Effects of Prednisone and genetic polymorphisms on etoposide disposition in children
with acute lymphoblastic leukemia. Blood. 103:67-72, 2004
54. Kato, M, Das, S, Petras, K, Kitamura, K, Morohashi, K, Abuelo, D, Barr, M, Bonneau, D, Brady, A,
Carpenter, N, Cipero, K, Frisone, F, Fukuda, T, Guerrini, R, Iida, E, Itoh, M, Lewanda, A, Nanba, Y,
Oka, A, Proud, V, Saugier-Veber, P, Schelley, S, Selicorni, A, Shaner, R, Silengo, M, Stewart, F,
Sugiyama, N, Toyama, J, Toutain, A, Vargas, A, Yanazawa, M, Zackai, E and Dobyns, WB. Mutations
of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum.
Mut. 23:147-159, 2004
55. Innocenti, F., Undevia, S.D., Iyer, L., Chen, P., Das, S., Karrison, T., Janisch, L., Ramirez, J., Rudin,
C.M. Vokes, E.E. and Ratain, M.J. Genetic variants in the UDP-Glucuronosyltransferase 1A1 gene
predict the risk of severe neutropenia of irinotecan in cancer patients. J. Clinical Oncol. 22:1382-1388,
56. Wu, M.H., Chen, P., Wu, X., Liu, W., Strom, S., Das, S., Cook E.H., Rosner, G.L. and Dolan, M.E.
Determination and analysis of single nucleotide polymorphisms and haplotype structure of the human
carboxylesterase 2 gene. Pharmacogenet. 14:595-605, 2004
57. Relling, M.V., Yang, W, Das, S, Cook, E.H., Neel, M, Howard, S, Ribeiro, R, Sandlund, J.T., Pui, C,
and Kaste, S. Pharmacogenetic risk factors for osteonecrosis of the hip among children with leukemia. J.
Clin. Oncol. 22:3930-6, 2004
58. Raca, G., Buiting, K. and Das, S. Deletion analysis of the imprinting center region in patients with
Angelman syndrome and Prader-Willi syndrome. Genetic Testing. 8(4):387-394, 2004
59. Salvesen, HG, Stefansson, I, Kretzschmar, EI, Gruber, P, MacDonald, ND, Ryan, A, Jacobs, I, Akslen,
LA and Das, S. Significance of PTEN alterations in endometrial carcinoma: A population-based study of
mutations, promoter methylation and PTEN protein expression. Int. J. Oncol. 25:1615-1623, 2004
60. Schuetz EG, Relling MV, Kishi S, Yang W, Das S, Chen P, Cook EH, Rosner GL, Pui CH, Blanco JG,
Edick MJ, Hancock ML, Winick NJ, Dervieux T, Amylon MD, Bash RO, Behm FG, Camitta BM,
Raimondi SC, Goh BC, Lee SC, Wang LZ, Fan L, Guo JY, Lamba J, Lim R, Lim HL, Ong AB, Lee HS,
Kuehl P, Zhang J, Lin Y, Assem M, Schuetz J, Watkins PB, Daly A, Wrighton SA, Hall SD, Maurel P,
Brimer C, Yasuda K, Venkataramanan R, Strom S, Thummel K, Boguski MS. PharmGKB update: II.
CYP3A5, cytochrome P450, family 3, subfamily A, polypeptide 5. Pharmacol Rev. 56(2):159, 2004
61. Macdonald ND, Salvesen HB, Ryan A, Malatos S, Stefansson I, Iversen OE, Akslen LA, Das S, Jacobs
IJ. Molecular differences between RER+ and RER- sporadic endometrial carcinomas in a large
population-based series. Int J Gynecol Cancer. 14(5):957-965, 2004
62. Fackenthal, JD, Sveen, L, Gao, Q, Kohlmeir, EK, Adebamowo, C, Ogundiran, TO, Adenipekun, AA,
Oyesegun, R, Campbell, O, Rotimi, C, Akang, EEU, Das, S and Olopade, FI. Complete allelic analysis
of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients. J. Med. Genet. 42:276-281,
63. Rocha, JC, Cheng, C, Liu, W, Kishi, S, Das, S, Cook, EH, Sandlund, JT, Rubnitz, J, Ribeiro, R,
Campana, D, Pui, CH, Evans, WE and Relling, MV. Pharmacogenetics of outcome in children with acute
lymphoblastic leukemia. Blood. 105:4752-4758, 2005
64. Tatton-Brown, K, Douglas, J, Coleman, K, Baujat, G, Cole, TRP, Das, S, Horn, D, Hughes, HE, Temple,
IK, Faravelli, F, Waggoner, D, Türkmen, S, Cormier-Daire, V, Irrthum, A and Rahman, N for the
Childhood Overgrowth Collaboration. Genotype-Phenotype Associations in Sotos Syndrome: An
Analysis of 266 Individuals with NSD1 Aberrations. Am. J. Hum. Genet., 77:193-204, 2005
65. Innocenti, F., Liu, W., Chen, P., Desai, AA., Das, S. and Ratain, MJ. Haplotypes of variants in the
UDP-glucuronosyltransferase 1A9 and 1A1 genes. Pharmacogenetics and Genomics, 15:295-301, 2005
66. Salvesen, HB, Kumar, R, Stefansson, I, Angelini, S, MacDonald, N, Smeds, J, Jacobs, I, Hemminki K,
Das, S and Akslen, LA. Low frequency of BRAF and CDKN2A mutations in endometrial cancer. Int. J.
Cancer. 115:930-934, 2005
67. Egan, RA, Weleber, RG, Hogarth, P, Gregory, A, Coryell, J, Westaway, SK, Gitschier, J, Das, S and
Hayflick, SJ. Neuro-ophthalmologic and electroretinographic findings in Pantothenate kinase-associated
neurodegeneration (formerly Hallervorden-Spatz syndrome). Am. J. Ophthalmology. 140:267-274, 2005
68. Waggoner, DJ, Raca, G, Welch, K, Dempsey, M, Anderes, E, Ostrovnaya, I, Alkhateeb, A, Kamimura, J,
Matsumoto, N, Schaeffer, GB, Martin, CL and Das, S. NSD1 analysis for Sotos syndrome – insights and
perspectives from the clinical laboratory. Genet. in Med. 7:524-533, 2005
69. Maddalena, A, Bale, S, Das, S, Grody, W, Richards, S and the ACMG Laboratory Quality Assuarance
Committee. Technical standards and guidelines: molecular genetic testing for ultra-rare disorders. Genet.
in med. 7: 571-583, 2005
70. Ramirez, J, Komoroski, BJ, Mirkov, S, Graber, Y, Fackenthal, DL, Schuetz, EG, Das, S, Ratain, MJ,
Innocenti, F, Strom, SC. Study of the genetic determinants of UGT1A1 inducibility by phenobarbital in
cultured human hepatocytes. Pharmacogenetics and Genomics. 16:79-86, 2006
71. Kishi, S, Cheng, C, French, D, Pei, D, Das, S, Cook, EH, Hijaya, N, Rizzari, C, Rosner, GL, Frudakis,
T, Pui, C, Evans, WE and Relling, MV. Ancestry and Pharmacogenetics of Antileukemic drug toxicity.
Blood. 109:4151-4157, 2007
72. Ramirez, J, Mirkov, S, Zhang, W, Chen, P, Das, S, Liu, W, Ratain, MJ and Innocenti, F. Hepatocyte
nuclear factor-1 alpha is associated with UGT1A1, UGT1A9 and UGT2B7 mRNA expression in human
liver. Pharmacogenomics J. 2007 Apr 17; [Epub ahead of print]
73. Hong, A, Huo, D, Kim, H, Niu, Q, Fackenthal, DL, Cummings, S, John, E, West, D, Whittemore, A,
Das, S and Olopade, OI. UDP-Glucuronosyltransferase 1A1 Gene Polymorphisms and Total Bilirubin
Levels in an Ethnically Diverse Cohort of Women. Drug Metabolism and Disposition. 2007 May 3;
[Epub ahead of print]
74. Putcha, GV, Bejjani, BA, Bleoo, S, Booker, JK, Carey, JC, Carson, N, Das, S, Dempsey, MA, Gastier-
Foster, JM, Greinwald, JH, Hoffmann, ML, Jeng, L, Kenna, MA, Khababa, I, Lilley, M, Mao, R,
Muralidharan, K, Otani, IM, Rehm, HL, Schaefer, F, Seltzer, WK, Spector, EB, Springer, MA, Weck,
KE, Wenstrup, RJ, Withrow, S, Wu, BL, Zariwala, MA and Schrijver, I. A Multicenter Study of the
Frequency and Distribution of GJB2 and GJB6 Mutations in a Large North American Cohort. Genetics
in Medicine. 9:413-426, 2007
75. Guerrini, R, Moro, F, Kato, M, Barkovich, AJ, Shiihara, T, McShane, MA, Hurst, J, Loi, M, Tohyama,
M, Norci, V, Hayasaka, K, Kang, UJ, Das, S and Dobyns, WB. Expansion of the first PolyA tract of
ARX causes infantile spasms and status dystonicus. Neurology. 69:427-433, 2007
76. Liu, W, Wu, X, Zhang, W, Montenegro, RC, Fackenthal, DL, Spitz, JA, Huff, LM, Innocenti, F, Das, S,
Cook, EH, Cox, NJ, Bates, SE and Ratain, M. Relationship of EGFR mutations, expression,
amplification and polymorphisms to epidermal growth factor reception inhibitors in the NCI60 cell lines.
Clin. Can. Res. 13:6788-6795, 2007
Manuscripts “in press”:
1. Bomgaars, LR, Bernstein, M, Krailo, M, Kadota, R, Das, S, Chen, Z, Adamson, PC and Blaney, SM.
Phase II trial of Irinotecan in children with refractory solid tumors: a children’s oncology group study. J.
Clin. Oncol. In press
2. Huo, D, Kim, H, Adebamowo, CA, Ogundiran, TO, Akang, EE, Campbell, O, Adenipekun, A, Niu, Q,
Sveen, L, Fackenthal, JD, Fackenthal, DL, Das, S, Cox, N, Di Rienzo, A and Olopade, OI. Genetic
polymorphisms in Uridine diphospho-glucuronosyltransferase 1A1 and breast cancer risk in Africans.
Breast Cancer Research and Treatment, In press
3. Ramirez, J, Liu, W, Mirkov, S, Desai, AA, Chen, P, Das, S, Innocenti, F and Ratain, M. Lack of
association between common polymorphisms in UGT1A9 and gene expression and activity. Drug Met.
and Disp. In press
4. Noqaczyk, MJM, Carter, MT, Xu, U, Huggins, M, Raca, G, Das, S, Martin, CL, Schwartz, S, Rosenfield,
R and Waggoner, DJ. Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with
intrauterine growth failure, early developmental delay and characteristic facial appearance. Am. J. Med.
Genet. In press
5. Nolan, DK, Chen, P, Das, S, Ober, C and Waggoner, D. Fine mapping of a locus for non-syndromic
mental retardation on chromosome 19p13. Am. J. Med. Genet. In press
6. Rudin, CM, Liu, W, Desai, A, Karrison, T, Jiang, X, Janisch, L, Das, S, Ramirez, J, Poonkuzhali, S,
Schuetz, E, Fackenthal, DL, Chen, P, Armstrong, DK, Brahmer, JR, Fleming, GF, Vokes, EE, Carducci,
MA and Ratain, MJ. Pharmacogenomic and pharmacokinetic determinants of erlotinib toxicity. J. Clin.
Oncol. In press
Manuscripts “in preparation” or “submitted”:
1. Alkhateeb, A, Clift, K, Normand, E, Alva, R, Petras, K, Mirzaa, G, Medne, L, Dobyns, WB and Das, S.
Mutations in ARX and CDKL5 in male patients with infantile spasms and infantile epileptic
encephalopathies and in females with milder phenotypes. In preparation
2. Das, S, Bale, S and Ledbetter, DH. Orphan genetic disease testing - translation of genetic tests from the
research laboratory to the clinical laboratory. Submitted to Genet. in Med.
3. Haverfield, EH, Platteter, AJ, Dobyns, WB and Das, S. Intragenic deletions and duplications of the LIS1
and DCX genes play a major role in lissencephaly and subcortical band heterotopia. In preparation
1. Packman, S, Vulpe, C, Levinson, B, Das, S, Whitney, S and Gitschier, J. Menkes disease: from
patients to genes. In: Genetic Response to Metals. Editor: B. Sarkar, Marcel Dekker Inc.,
2. Fackenthal, DL, Chen, P and Das, S. Denaturing High-Performance Liquid Chromatography for
Mutation Detection and Genotyping. In: Pharmacogenomics: Methods and Protocols. Editor: F.
Innocenti, Humana Press, NJ, 2005
3. Dobyns WB, Das S. Chapter 21. Principles of Genetics. In: Swaiman KF, Ashwal S, Ferriero D (eds.):
Pediatric Neurology: Principles and Practice, 4th edition, In press