CURRICULUM VITAE Part I. General Information DATE PREPARED

CURRICULUM VITAE

Part I. General Information

DATE PREPARED: April 4, 2012

Name: Susan L. Santangelo, Sc.D.

Office Address: Psychiatric & Neurodevelopmental Genetics Unit

Center for Human Genetic Research

Massachusetts General Hospital

185 Cambridge Street, CPZN 6-256

Boston, MA 02114 (United States)

Phone: (617) 726-7876 Fax: (617) 726-0830

Email: [email protected]

Place of Birth: New London, Connecticut, USA

Education: Wellesley College (Psychology)
09/76-05/79 BA Harvard School of Public Health (Epidemiology)
09/87-11/92 ScD

Postdoctoral Training: Harvard Medical School
11/92-01/94 Research Fellow, Psychiatric Epidemiology Harvard School of Public Health

01/93-01/94 Research Associate, Pediatric Massachusetts General Hospital
Psychiatry Research

Academic Appointments:

01/94-03/02 Assistant Professor of Psychiatry Tufts University School of Medicine
01/94-03/02 Adjunct Assistant Professor in Epidemiology Harvard School of Public Health
03/02-08/05 Assistant Professor of Psychiatry Harvard Medical School
03/02-07/06 Assistant Professor in Epidemiology Harvard School of Public Health
08/05-present Associate Professor of Psychiatry Harvard Medical School
07/06-present Associate Professor in Epidemiology Harvard School of Public Health

Hospital Appointments:

03/02-03/04 Assistant in Research (Psychiatry) Massachusetts General Hospital
03/04-02/06 Assistant Geneticist (Psychiatry) Massachusetts General Hospital
02/06-02/08 Assistant Geneticist (Psychiatry) Massachusetts General Hospital
02/08-02/10 Research Scientist (Psychiatry) Massachusetts General Hospital
02/10-02/12 Research Scientist (Psychiatry) Massachusetts General Hospital

Major Administrative Responsibilities:

2002-2007 Associate Director, Training Program in Psychiatric Epidemiology and Biostatistics,
Harvard School of Public Health

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2003- Director, Statistical Genetics and Genetic Epidemiology, Psychiatric and
Neurodevelopmental Genetics Unit, Center for Human Genetic Research,
Massachusetts General Hospital

Major Committee Assignments:

Hospital and Health Care Organization Committees:

2002 Member, review panel evaluating applications for interim research support from
Partners/MGH

2003- Member, Charles River Plaza Building Information Systems Support Task Force, planning
the IT infrastructure for the Simches Research building.

2004- Member, Research Committee, Mass. General Hospital Department of Psychiatry

2004- Member, Women in Academic Medicine Committee, Mass. General Hospital,
Department of Psychiatry

2004-2008 Member, Partners Bioinformatics Advisory Group

2004- Founding Member, MGH/Partners Autism Seminar Series Steering Committee

Harvard Medical School Committees:

2004 Chair, Search Committee for a junior faculty position in the Department of Psychiatry

Harvard School of Public Health Committees:

1994- Member, Psychiatric Epidemiology Curriculum Committee, Dept. Epidemiology, HSPH

National and Regional Committees:

1998 Member, NIMH-sponsored workshop on Building Animal Models For Autism Through
Translational Neuroscience Research

1999 Member, NIMH-sponsored workshop on The Genetics of Autism

1999-2006 Ad-hoc member, Scientific Advisory Board, National Alliance for Autism Research

2002-2003 Member, Tobacco Related Disease Research Program Epidemiology Study Section

2003 Member, Special Emphasis Panel, Division of Clinical and Population-based studies,
Biobehavioral and Behavioral Processes 6. National Institutes of Health

2003 Ad hoc member, Genetic Sciences Integrated Review Group, Genome Study Section,
National Institutes of Health

2004 Santangelo / 3
2004
2004 Member, Special Emphasis Panel, Division of Clinical and Population-based studies,
Biobehavioral and Behavioral Processes 6. National Institutes of Health
2004
2005 Ad hoc member, Genetic Sciences Integrated Review Group, Genome Study Section,
2005 National Institutes of Health
2006-
Member, Special Emphasis Panel, NIH/NIMH-ERB-L (01), evaluating grant applications
2006 responsive to RFA: MH-05-005, ‘mRNA Profiling of the Major Mental Disorders:
2006 Exploiting Post-Mortem Tissue Through Gene Array Technology.’ National Institutes of
2006 Health
2006-
2006- Member, Behavior Genetics and Epidemiology Study Section Special Emphasis Panel (B),
ZRG1-HOP-M (09), National Institutes of Health
2006
2007 Ad hoc member, Genomics, Computational Biology and Technology (GCAT) Study
2007 Section, National Institutes of Health
2007
Invited member, Committee to select the Gabriel Lasker Award for the best paper published
in Human Biology in 2005

Founding member Executive Committee, later Steering Committee, The Autism
Consortium, Boston, MA, USA, including representatives from MGH, Children’s Hospital,
Boston University Medical Center, The Floating Hospital, and Cambridge Health Alliance

Chair, Centers for Disease Control Special Emphasis Panel evaluating epidemiologic studies
of autism

Ad hoc member, Genetics, Health and Disease (GHD) Study Section, National Institutes of
Health

Ad hoc member, Behavioral Genetics and Epidemiology (BGES) Study Section, National
Institutes of Health

Member, Genefinding Working Group, The Autism Consortium, including representatives
from Harvard Medical School, MIT, and The Broad Institute of Harvard and MIT

Chair, Phenotype Working Group, The Autism Consortium, including representatives from
MGH, Children’s Hospital, Boston University Medical Center, The Floating Hospital, and
Cambridge Health Alliance

Ad-hoc member, Scientific Advisory Board, Autism Speaks

Ad-hoc member, Scientific Advisory Board, Autism Speaks

Ad hoc member, Genetics, Health and Disease (GHD) Study Section, National Institutes of
Health

Member, ZMH1, ERB-N (05) Special Emphasis Panel, National Institutes of Health

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2007-11 Member, Behavioral Genetics and Epidemiology (BGES) Study Section, National Institutes
of Health

2008 Abstract reviewer for sessions on Psychiatric Genetics, Neurogenetics and Neurodegeneration
and Chair of the session on Autism Research at the 58th annual meeting of the American

Society for Human Genetics, November, 2008.

2008- Member, Cross-Disorder Phenotype Group of the Psychiatric GWAS Consortium (PGC),
and of the Autism Working Group of the PGC

2009 Member, Centers for Disease Control Special Review Committee.

Professional Society Memberships:

1988-1994 American Public Health Association
1989-1994 American Association for the Advancement of Science
1990- American Society of Human Genetics
1992- International Genetic Epidemiology Society
1998- International Society of Psychiatric Genetics
2003- 2005 Association for Research in Vision and Ophthalmology
2006 - International Society for Autism Research

Community Service Related to Professional Work

2001-2004 Invited speaker on “The Genetics of Autism,” at various parent support groups in New
England.

Editorial Boards:

1999- Ad hoc reviewer, American Journal of Medical Genetics (Neuropsychiatric Genetics)
2002- Ad hoc reviewer, Pharmacogenomics
2003- Ad hoc reviewer, Biological Psychiatry
2004- Ad hoc reviewer, Human Heredity
2004- Ad hoc reviewer, Archives of General Psychiatry
2005- Ad hoc reviewer, Genes, Brain and Behavior
2003 Associate Editor, Genetic Analysis Workshop 13 Proceedings: Editing individual
contributions and summarizing analyses of longitudinal family data for complex diseases
2005 and related risk factors. Genetic Epidemiology 2003; 25(S1)
Member of the committee to select the Gabriel Lasker Award for best paper published in
2006- Human Biology in 2005.
2007- Ad hoc reviewer, Annals of Human Genetics
Editorial Board Member, American Journal Medical Genetics Part B, Neuropsychiatric
2007- Genetics
2008- Ad hoc reviewer, Nature Genetics
2008 Ad hoc reviewer, American Journal of Epidemiology
2009- Reviewer, abstracts for the 58th annual meeting of the American Society of Human Genetics
2009- Editorial Board Member, Molecular Autism
2011- Ad hoc reviewer, American Journal of Psychiatry
Ad hoc reviewer, Psychiatry Research

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2011- Ad hoc reviewer, Pediatrics
2011- Review Editor, Frontiers in Applied Genetic Epidemiology

Awards and Honors:

1987-1992 National Research Service Award, Psychiatric Epidemiology
1993 Junior Investigator Award, World Congress on Psychiatric Genetics

Part II. Research and Teaching Contributions

A. Narrative Report:

Research Contributions: As a genetic epidemiologist, also trained in psychiatric epidemiology, my work
is focused on elucidating the genetic architecture of diseases with complex genetic inheritance,
particularly psychiatric diseases. I direct the Statistical Genetics and Genetic Epidemiology Laboratory in
the Psychiatric & Neurodevelopmental Genetics Unit, Center for Human Genetic Research at MGH.

I have studied the genetics of autism and autism spectrum disorders (ASD) for over 17 years and
the major focus of my work now is on ASD. Recent autism projects I led include a large-scale autism
phenotype project collecting comprehensive neurobehavioral phenotype data on over 500 families over
three years, and an investigation of genes controlling new protein synthesis in synaptic plasticity, as well
as two mentored pre-doctoral fellowships and post-doctoral fellowships. Currently, I am Principal
Investigator of a Department of Defense funded study of maternal risk factors for autism spectrum
disorders in children of the Nurses' Health Study Cohort II, a large longitudinal study of nurses with a
wealth of prospectively collected dietary and other environmental risk factor data. I am also the PI of
another DoD-funded study to investigate the neural correlates (functional and structural connectivity)
underlying restricted, repetitive behaviors in autism. I am a founding member of the Steering Committee
of the Boston-based Autism Consortium (AC), am a member of the AC Genefinding Working Group and
Principle Investigator of the AC Phenotype Working Group. As a nationally and internationally
recognized expert on the genetics of autism, I have served as an ad-hoc member of the Scientific Advisory
Board for the National Alliance for Autism Research (NAAR) since 1999, and have continued in that role
for Autism Speaks since their merger with NAAR. I have also served on several National Institutes of
Health special emphasis and regular review panels evaluating grant applications investigating autism,
schizophrenia, bipolar and other mood disorders, other psychiatric and behavioral disorders and statistical
and software methods development. From 2006 - 2011, I served as a standing member of the Behavioral
Genetics and Epidemiology Study Section.

Other research projects I am currently engaged in include a genetic linkage study of Tourette
syndrome, on which I am a co-investigator, and a program project Specialized Center of Research (P50-
SCOR) to investigate sex differences in fetal antecedents to depression, on which I am a co-investigator
and PI of Project 1 of that SCOR to investigate the genetic contribution to hormonal fetal antecedents to
sex differences in the brain in depression. Recently concluded studies include an NIH/NIMH funded R01
to map genes underlying neurocognitive endophenotypes known to be associated with schizophrenia in a
genetic isolate population in Nepal, on which I was the PI, and a family/genetic study of smoking and
nicotine use and dependence, based at Brown University.

Teaching Contributions: As a faculty member (and former Associate Director) of the Training Program
in Psychiatric Epidemiology and Biostatistics at the Harvard School of Public Health (HSPH), where I
have been a faculty member in the Department of Epidemiology since 1994, I have served as mentor and
academic advisor to many pre- and post-doctoral students in Epidemiology, some of whom are now faculty

Santangelo / 6

in the Departments of Psychiatry and Neurology at Harvard Medical School (HMS). I have also served on
the thesis and oral examining committees of many students in the departments of Epidemiology and
Biostatistics, several of whom are now faculty at HMS and other fine academic institutions. Two of my
recent post-doctoral fellows joined the Department of Psychiatry at HMS as Instructors in 2009. In
addition to ad-hoc lecturing in various courses at HSPH, and other area universities, such as Tufts,
Brandeis, Brown, and MIT, I have developed and taught courses in the core curriculum for the Training
Program in Psychiatric Epidemiology and Biostatistics, including a current course on genetic
epidemiological methods for studying traits with complex genetic inheritance titled, “Genetic
Epidemiologic Methods for Psychiatric and Other Complex Disorders” (EPI244).

B. Research Funding Information:

1995-2001 NIH/NIMH PI, “Phenotype Delineation and Genetic Modeling of
1997-1999 The Medical Foundation Autism,” K21 MH01338
1999-2003 The March of Dimes
2001-2008 NIH/NEI PI, “Using Extremely Discordant Sib-Pairs to Search for
2004-2009 NIH/NCI/NIDA Autism Genes”

2004-2010 NIH/NIMH PI, “Accelerating the Search for Autism Genes Using
Extremely Discordant Sib Pairs”
2004-2005 Partners/ECOR
Co-PI, “Etiologic Studies of Age-Related Macular
2005-2007 NLM Family Foundation Degeneration,” U10 13Y11309

2005-2007 Autism Speaks PI, Candidate Gene Pilot Study in “Nicotine Dependence:
2007-2009 NAAR Risk and Recovery Over Generations,” CA-84719 (NCI
TTURC)
2007-2010 The Autism Consortium
2007-2009 NIH/NIMH PI, “Mapping Genes for Neurocognitive Endophenotypes” R01
MH068498

Co-PI, ECOR Innovation Award, “The Development of a
Parallel Computation System”

PI, “A Family Study of Autism at Massachusetts General
Hospital”

Co-PI, “PAM as a Candidate Gene for Autism”

PI, “Association of Distal-less Homeobox (DLX) Genes and
Autism: Independent and Interactive Effects of Single SNPs
and Haplotypes”

PI, “Phenotypic and Genetic Factors in Autism Spectrum
Disorders”

Co-PI, “Genes that Deregulate mTOR Signaling as Candidates
for Autism Spectrum Disorders” R21 MH079213

2007-2012 ORWH/NIMH Santangelo / 7
2008-2011 Department of Defense
2008-2010 Autism Speaks Co-Investigator and PI of Project 1, “Genes & Hormonal Fetal
2008-2010 Autism Speaks Antecedents to Sex Differences in the Brain in Depression”
2009-2012 Autism Speaks P50 MH082679
2011-2012 MGH ECOR
2011-2014 Department of Defense PI, “Maternal Risk Factors for Autism Spectrum Disorders
in Children of the Nurses' Health Study II” W81XWH 07
ASDRP IDA

PI, “Maternal Dietary Factors and Risk for Autism
Spectrum Disorders”

PI, “Investigation of Genes Involved in Synaptic Plasticity
in Iranian Families with ASD”

Co-PI, “Epidemiology of Autism in Iran” (later rescinded
by Autism Speaks due to diplomatic and political
issues between the USA and Iran)

PI, “Phenotypic Correlates of Copy Number Variants in
Autism Spectrum Disorders”

PI, “Neural Correlates of Restricted, Repetitive Behaviors in
Autism Spectrum Disorders”

C. Report of Current Activities:

“Mapping Genes for Neurocognitive Endophenotypes” PI

This study will attempt to map the chromosomal locations of genes underlying neurocognitive traits

known to be associated with schizophrenia, such as impaired sensory gating, sustained focused attention,

and working memory. The study sample is a homogeneous, genetically isolated population in eastern

Nepal, consisting of over 2800 individuals in a single, six-generation extended pedigree. Funding:

NIH/NIMH R01 MH068498

“A genetic linkage study of GTS” Co-Investigator

The purpose of this study is to identify genes conferring susceptibility for Gilles de la Tourette Syndrome,

primarily via the use of genetic linkage analysis and association analysis. Funding: NIH/NINDS

“Fetal Antecedents to Sex Differences in Depression: A Translational Approach” Co-Investigator
“Genes & Hormonal Fetal Antecedents to Sex Differences in the Brain in Depression” PI, Project 1
The major goal of this project is to test hypotheses regarding sex differences in the onset and
manifestation of major depressive disorder via the analyses of functional and structural magnetic imaging
data and hormonal evaluations regarding fetal antecedents to sex differences in brain abnormalities and
neuroendocrine dysfunction in this disorder. Funding: NIMH, ORWH
Role: Principal Investigator of Subcontract to conduct Project 1

“Maternal Risk Factors for Autism Spectrum Disorders in Children of the PI
Nurses' Health Study II”

The goal of this project is to identify maternal dietary factors, other environmental factors, such as

heavy metal exposure, and genetic factors that may influence the risk for autism spectrum disorders in

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children of a large longitudinal study of a cohort of nurses. Funding: Department of Defense
Role: Principal Investigator

“Neural Correlates of Restricted, Repetitive Behaviors in Autism Spectrum Disorders” PI

The primary aim of this study is to illuminate the neural basis of restricted, repetitive behaviors in autism

spectrum disorders and its relation to genes in the serotonergic and tetrahydrobiopterin pathways.

Funding: Department of Defense

Role: Principal Investigator

D. Report of Teaching:

1. Local Contributions

Teaching, Harvard School of Public Health

1993- BIO269, “Statistical Methods in Psychiatry”, Lecturer, Department of Biostatistics

1993-1995 EPI223, “Risk Factors in Psychiatric Epidemiology”, Course Co-Director, Department of
Epidemiology

1995- EPI219, “Assessment Concepts and Methods in Psychiatric Epidemiology”, Panel Judge of
Students’ Presentations, Department of Epidemiology

1996-1999 EH277, “Genetic Epidemiology and Gene Mapping”, Lecturer, Department of Biostatistics
and Environmental Health

1996-1997 EPI223, “Risk Factors in Psychiatric Epidemiology: Genetics and Environment”, Course
Director, Department of Epidemiology

1997-1998 EPI244 “Genetic Epidemiology of Major Psychiatric Disorders”, Course Developer and
Principal Instructor, Department of Epidemiology

1999-2000 EPI244, “Methods for Studying Genetic Risk Factors in Psychiatric Epidemiology”,
Course Developer and Principal Instructor, Department of Epidemiology

2000- EPI244, “Genetic Epidemiologic Methods for Psychiatric and Other Complex Disorders”,
Course Developer and Principal Instructor, Department of Epidemiology

Teaching, Other Institutions

1995-2000 Lecturer in “Introduction to Genetics,” Sackler School of Graduate Biomedical Sciences,
Tufts University School of Medicine

2006 Invited Lecturer, Undergraduate and first-year graduate course on Autism and
Developmental Disorders at Brandeis University in the Biology and Neuroscience track.

2008 Invited Lecturer in a course on autism in the Department of Brain and Cognitive Sciences
at MIT.

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Advising Responsibilities, Harvard School of Public Health

1996-1997 Constantine Daskalakis, ScD, Thesis Advisor.
Current Position: Associate Professor in Biostatistics, Thomas Jefferson University,
Philadelphia, PA

1996-1999 Eric Mick, ScD, Academic and Thesis Advisor.
Current Position: Assistant Professor in Psychiatry, Harvard Medical School, Boston, MA

1996-2000 Stefan Horvath, ScD, Thesis Advisor.
Current Position: Professor of Biostatistics and Human Genetics, UCLA, Los
Angeles, CA

1999-2000 Jordan W. Smoller, MD, ScD, Thesis Advisor.
Current Position: Associate Professor in Psychiatry, Harvard Medical School, Boston,
MA

1998-2001 Juan Celedon, ScD, Academic and Thesis Advisor.
Current Position: Chairman of Pediatric Pulmonology, Allergy and Immunology, and Neil
S. Jerne Professor of Pediatrics, Medicine, and Human Genetics, University of
Pittsburgh, Pittsburgh, PA

2000-2003 Nusrat Rabee, ScD, Thesis Advisor.
Current Position: Associate Professor, Department of Statistics, U.C. Berkeley, Berkeley,
CA

2002-2004 Stephen Haddad, MS, Academic and Thesis Advisor.
Current position: Laboratory Manager, Psychiatric and Neurodevelopmental Genetics
Unit, Center for Human Genetic Research, Mass. General Hospital, Boston, MA

2002-2004 Lauren DiBiasi, MS, Academic and Thesis Advisor.
Current Position: Dept Public Health, New York, New York

2003-2007 Christine Huang, MA, Academic and Thesis Advisor.
Current Position: Statistical Analyst, Massachusetts General Hospital Martinos Center,
Mass. General Hospital, Charlestown, MA

2003-2006 Matthew McQueen, ScD, Thesis Advisor and Chair of Oral Examination Committee.
Current Position: Assistant Professor, University of Colorado, Boulder, CO.

2004-2010 Kristin Lyall, ScD, Pre-doctoral Academic and Thesis Advisor. Current position: Post-
doctoral fellow in Epidemiology, Harvard School of Public Health, Boston, MA.

2005-2006 Bettina Bankier, MD, ScM. Academic Advisor. Current position: Department of
Psychiatry and Psychotherapy, Medical University Vienna, Vienna, Austria.

2005-2010 Shun-Chiao Chang, ScD, Pre-doctoral Academic and Thesis Advisor. Current position,
Post-doctoral fellow in Epidemiology, Harvard School of Public Health, Boston, MA

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2007-2009 Tatiana Sitnikova, PhD, Post-doctoral advisor/mentor. Current position, Instructor in
2006-2009 Psychiatry, Harvard Medical School, Boston, MA
2010-
2011- Roksana Sasanfar, M.D. Post-doctoral advisor/mentor. Current position, Instructor in
2011- Psychiatry, Harvard Medical School, Boston, MA

Elise Robinson, ScD. Post-doctoral advisor/mentor. Current position: Post-doctoral
fellow in Epidemiology, Harvard School of Public Health, Boston, MA

Yuanyuan Liu, BS. Master’s Academic Advisor. Current position, Master’s student in
Epidemiology, Harvard School of Public Health, Boston, MA

Deanna Alexis Carere, MS. Pre-doctoral Academic Advisor. Current position, Pre-
doctoral fellow in Epidemiology, Harvard School of Public Health, Boston, MA

Advising Responsibilities, other institutions

2010 An Crepel, Ph.D. Doctoral thesis advisor and referee. University of Leuven, Leuven,
2010 Belgium. Current position, Post-doctoral fellow University of Leuven

Hilde Peeters, M.D., Ph.D. Outside Referee for Dr. Peeters’ Post-doctoral Fellowship
renewal. University of Leuven, Leuven, Belgium

Grand Rounds and Other Invited Presentations, Harvard Institutions

1990 Invited speaker, Quantitative Genetics Seminar, Harvard Museum of Comparative
Zoology: “A Review of Genetic Data on Affective Disorders.”

1993 Invited speaker, Psychiatric Epidemiology and Biostatistics Colloquium, Harvard School
of Public Health: “A Paradigm for Modeling Familial Risk for Tourette Spectrum
Disorders: Cox Regression Analysis of Multiple Failure Time Variables.”

2001 Invited speaker, Psychiatric Epidemiology and Biostatistics Colloquium, Harvard School
of Public Health: “Findings From a Genome-Wide Scan for Autism.”

2004 Invited lecturer, Harvard Medical School, Dept of Continuing Education, Massachusetts

General Hospital, Dept of Psychiatry, Psychiatric Genetics, Current Findings and Clinical
Application: “Genetics of Childhood Disorders: Autism.”

2005 Invited lecturer, MGH Autism Seminar Series: Autism: Genes, Brains, Babies and
Beyond. “The Genetics of Autism.”

2006 Invited speaker, MGH Genetics Pre-Clinic Conference: “The Genetic Epidemiology of
Autism: Have We Made Any Progress in the Last Ten Years?”

2006 Invited speaker, MGH General Pediatrics Division Meeting, on the Genetics of Autism.

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Grand Rounds and Other Invited Presentations, Other Local Institutions

2000 Invited speaker, Scientific Lecture Series, Tufts University School of Medicine,
Department of Psychiatry, “Methods for Studying the Genetics of Psychiatric Disorders.”

2002 Invited Lecturer, Workshop in Genetic Epidemiology at the Miriam Hospital, Providence,
2007 RI: a 3-hour seminar with CME credits.

Invited speaker, “Autism Spectrum Disorder: Recent Advances in Infantile Origins, Early
Childhood Detection, & Intervention,” sponsored by Brown University, The American
Psychological Association, Autism Speaks, The Autism Consortium, Wheaton College
and the Groden Network, Providence, RI.

2. Regional and National Contributions

Invited Presentations

1998 Invited speaker, NIMH-sponsored workshop on Building Animal Models for Autism
1999 Through Translational Neuroscience Research: “Genetic Epidemiology of Autism and
Recent Findings from a Whole-Genome Scan.” Santa Monica, CA

Invited Speaker, NIMH-sponsored workshop on The Genetics of Autism: “Findings from
the Collaborative Linkage Study of Autism.” Bethesda, MD

2002 Invited speaker at the annual NCI funded Transdisciplinary Tobacco Use Research
Centers retreat: “A Discordant Twin Study of the Association Between Smoking,
Depression, and Vulnerability to Depression” Chandler, AZ

2003 Invited discussant, Expert Panel, Brown-Oxford Transatlantic Videoconference
(Sponsored by National Cancer Institute), “Genetics in Primary Care.”

2004 Invited speaker, Department of Psychiatry, Tribhuvan University Institute of Medicine,
2004 Kathmandu, Nepal “Genetics of Schizophrenia.”

Session Chair, Genetics of Childhood Disorders, World Congress on Psychiatric Genetics,
Dublin, Ireland, October, 2004.

2005 Visiting professor, Tribhuvan University Institute of Medicine, Department of Psychiatry,
Kathmandu, Nepal

2006 Invited speaker, Autism Association of New England Annual Meeting, Workshop on The
Genetics of Autism Spectrum Disorders.

2008 Session Chair, Autism Research, 58th annual meeting of the American Society of Human
Genetics.

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Part III. Bibliography

Original Articles

1. Gaspari J, Swift R, Kleber H, Riordan C, Santangelo S. Prevalence of movement disorder in a
Methadone-maintained population. J Nerv Ment Dis. 1985;173(6):373-6.

2. Santangelo SL, McAuliffe WE, Rohman M, Feldman B, Magnuson E, Weschler H. From Student to
Professional: When Does Substance Abuse Begin? E.A.P. Digest. 1986;6(2):45-51.

3. McAuliffe WE, Rohman M, Santangelo S, Feldman B, Magnuson E, Sobol A, Weissman J.Psychoactive
drug use among practicing physicians and medical students. N Engl J Med. 1986;315(13):805-10.

4. McAuliffe WE, Santangelo SL, Gingras J, Rohman M, Sobol A, Magnuson E. Use and abuse of
controlled substances by pharmacists and pharmacy students. Am J Hosp Pharm. 1987;44(2):311-7.

5. McAuliffe WE, Santangelo S, Magnuson E, Sobol A, Rohman M, Weissman J. Risk factors of drug
impairment in random samples of physicians and medical students. Int J Addict. 1987;22(9):825-41.

6. Goldstein JM, Santangelo SL, Simpson JC, Tsuang MT. The role of gender in identifying subtypes of
schizophrenia: a latent class analytic approach. Schizophr Bull. 1990;16(2):263-75.

7. McAuliffe WE, Rohman M, Breer P, Wyshak G, Santangelo S, Magnuson E. Alcohol use and abuse in
random samples of physicians and medical students. Am J Public Health. 1991;81(2):177-82.

8. Goldstein JM, Santangelo SL, Simpson J, Tsuang MT. Gender and mortality in schizophrenia: do
women act like men? Psychol Med. 1993;23(4):941-8.

9. Santangelo SL, Pauls DL, Goldstein JM, Faraone SV, Tsuang MT, Leckman JF. Tourette's syndrome:
what are the influences of gender and comorbid obsessive-compulsive disorder? J Am Acad Child Adolesc
Psychiatry. 1994;33(6):795-804.

10. Goldstein JM, Seidman LJ, Santangelo S, Knapp PH, Tsuang MT. Are schizophrenic men at higher
risk for developmental deficits than schizophrenic women? Implications for adult neuropsychological functions. J
Psychiatr Res. 1994;28(6):483-98.

11. Biederman J, Santangelo SL, Faraone SV, Kiely K, Guite J, Mick E, Reed ED, Kraus I, Jellinek M,
Perrin J. Clinical correlates of enuresis in ADHD and non-ADHD children. J Child Psychol Psychiatry.
1995;36(5):865-77.

12. Santangelo SL, Pauls DL, Lavori PW, Goldstein JM, Faraone SV, Tsuang MT. Assessing risk for the
Tourette spectrum of disorders among first-degree relatives of probands with Tourette syndrome. Am J Med Genet.
1996;67(1):107-16.

13. Fulwiler C, Forbes C, Santangelo SL, Folstein M. Self-mutilation and suicide attempt: distinguishing
features in prisoners. J Am Acad Psychiatry Law. 1997;25(1):69-77.

14. Lainhart JE, Piven J, Wzorek M, Landa R, Santangelo SL, Coon H, Folstein SE. Macrocephaly in
children and adults with autism. J Am Acad Child Adolesc Psychiatry. 1997;36(2):282-90.

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15. Piven J, Palmer P, Landa R, Santangelo S, Jacobi D, Childress D. Personality and language
characteristics in parents from multiple-incidence autism families. Am J Med Genet. 1997;74(4):398-411.

16. Santangelo SL*, Van Eerdewegh P*, Lee H, Laird NM, Blacker D. Probabilistic diagnosis in linkage
analysis of bipolar disorder: putting weights on the fringe. Genet Epidemiol. 1997;14(6):693-8. * These authors
contributed equally to this work.

17. Folstein SE, Bisson E, Santangelo SL, Piven J. Finding specific genes that cause autism: a combination
of approaches will be needed to maximize power. J Autism Dev Disord. 1998;28(5):439-45.

18. Folstein SE, Santangelo SL, Gilman SE, Piven J, Landa R, Lainhart J, Hein J, Wzorek M. Predictors of
cognitive test patterns in autism families. J Child Psychol Psychiatry. 1999;40(7):1117-28.

19. The Collaborative Linkage Study of Autism. An Autosomal Genomic Screen for Autism. Am J Med
Genet (Neuropsychiatric Genetics) 1999 Dec 15; 88(6): 609-15. Corrected citation published 2001: Am J Med
Genet (Neuropsychiatric Genetics) 2001 Dec 8; 105(8): 609-615.

20. Van Eerdewegh P, Dupuis J, Santangelo SL, Hayward LB, Blacker D. The importance of watching our
weights: how the choice of weights for non-independent sib pairs can dramatically alter results. Genet Epidemiol.
1999;17 Suppl 1:S373-8.

21. Mick E, Santangelo SL, Wypij D, Biederman J. Impact of maternal depression on ratings of comorbid
depression in adolescents with attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2000;
39(3):314-9.

22. Van Eerdewegh P, Dowd M, Dupuis J, Falls K, Hayward B, Santangelo SL. On the detection of linkage
in multiple data sets: a comparison of various statistical approaches. Genet Epidemiol. 2001;21 Suppl 1:S67-72.

23. The Collaborative Linkage Study of Autism. Incorporating Language Phenotypes Strengthens
Evidence of Linkage to Autism. Am J Med Genet (Neuropsychiatric Genetics). 2001 Aug 8; 105(6): 539-547.
Corrected citation published 2001: Am J Med Genet (Neuropsychiatric Genetics). 2001 Dec 8; 105(8): 539-547.

24. Nurmi EL, Bradford Y, Chen Y, Hall J, Arnone B, Gardiner MB, Hutcheson HB, Gilbert JR, Pericak-
Vance MA, Copeland-Yates SA, Michaelis RC, Wassink TH, Santangelo SL, Sheffield VC, Piven J, Folstein SE,
Haines JL, Sutcliffe JS. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families.
Genomics. 2001;77(1-2):105-13.

25. Hutcheson HB, Bradford Y, Folstein SE, Gardiner MB, Santangelo SL, Sutcliffe JS, Haines JL.
Defining the autism minimum candidate gene region on chromosome 7. Am J Med Genet. 2003;117B(1):90-6.

26. Santangelo SL*, Seddon JM*, Book K, Chong S, Cote J. A genomewide scan for age-related macular
degeneration provides evidence for linkage to several chromosomal regions. Am J Hum Genet. 2003;73(4):780-90.
*These authors contributed equally to this work.

27. Almasy L, Cupples LA, Daw EW, Levy D, Thomas D, Rice JP, Santangelo SL, MacCluer J. Genetic
Analysis Workshop 13: Introduction to workshop summaries. In Almasy L, Rice J, Santangelo SL, MacCluer J
(eds) Genetic Analysis Workshop 13: Summarizing analyses of longitudinal family data for complex diseases and
related risk factors. Genet Epidemiol 2003; 25(S1): S1-S4.

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28. Mick E, Biederman J, Santangelo S, Wypij D. The influence of gender in the familial association
between ADHD and major depression. J Nerv Ment Dis. 2003; 191 (11): 699-705.

29. McQueen MB, Bertram L, Rimm EB, Blacker D, Santangelo SL: A QTL Genome Scan of the
Metabolic Syndrome and its Component Traits, in Almasy L, Amos CI, Bailey-Wilson JE, Cantor RM, Jaquish
CE, Martinez M, Neuman RJ, Olson JM, Palmer LJ, Rich SS, Spence MA, MacCluer JW (eds) Genetic Analysis
Workshop 13: Analysis of longitudinal family data for complex diseases and related risk factors. BMC Genet
2003, 4(Suppl 1):S96.

30. Hutcheson HB, Olson LM, Bradford Y, Folstein SE, Santangelo SL, Sutcliffe JS, Haines JL.
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes. BMC Med Genet
2004;5(1):12.

31. Santangelo SL, Yen C-H, Seddon JM. A Discordant Sib Pair Linkage Analysis of Age Related
Macular Degeneration Finds Evidence for Linkage to Chromosomal Regions Identified in an Affected Sib Pair
Linkage Scan. Ophthalmic Genetics 2005; 26(2): 61-67.

32. Fisher SA, Abecasis GR, Yashar BM, Zareparsi S, Swaroop A, Iyengar SK, Klein BEK, Klein R, Lee
KE, Majewski J, Schultz DW, Klein ML, Seddon JM, Santangelo SL, Weeks DE, Conley YP, Mah TS, Schmidt
S, Haines JL, Pericak-Vance MA, Gorin MB, Schultz HL, Pardi F, Lewis CM, Weber BHF. Meta-Analysis of
Genome Scans of Age-Related Macular Degeneration. Human Molecular Genetics 2005; 14(15): 2257-2264.

33. The Tourette Syndrome Association International Consortium for Genetics. Genome Scan for Tourette
Disorder in Affected-Sibling-Pair and Multigenerational Families. Am J Hum Genet 2007; 80:265-272.

34. Lyons MJ, Hitsman B, Xian H, Panizzon M, Jerskey, B, Santangelo S, Grant MD, Rende R, Eisen S,
Eaves L, Tsuang MT. A twin study of smoking, nicotine dependence, and major depression in men. Nicotine Tob
Res. 2008 Jan; 10(1):97-108. DOI:10.1080/14622200701705332.

35. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R, Saemundsen E,Stefansson H, Ferreira
MA, Green T, Platt OS, Ruderfer DM, Walsh CA, Altshuler D,Chakravarti A, Tanzi RE, Stefansson K,
Santangelo SL, Gusella JF, Sklar P, Wu BL, Daly MJ for the Autism Consortium. Association between
Microdeletion and Microduplication at 16p11.2 and Autism. N Engl J Med, 2008;358(7):667-75. DOI:
10.1056/NEJMoa075974.

36. Scharf JM, Moorjani P, Fagerness J, Platko J V, Illmann C, Galloway B, Jenike E, Stewart SE, Pauls
DL, and The Tourette Syndrome International Consortium for Genetics. Lack of Association Between
SLITRK1var321 and Tourette Syndrome in a Large Family-Based Sample. Neurology 2008;70;1495-1496. DOI:
10.1212/01.wnl.0000296833.25484.bb.

37. Grados MA, Mathews CA; Tourette Syndrome Association International Consortium for Genetics.
Latent class analysis of Gilles de la Tourette syndrome using comorbidities: clinical and genetic implications.
Biol Psychiatry. 2008 Aug 1;64(3):219-25. DOI:10.1016/j.biopsych.2008.01.019.

38. Huang CH, and Santangelo SL. Autism and serotonin transporter gene polymorphisms: a systematic
review and meta-analysis. Am J Med Genet Part B Neuropsychiatr Genet. 2008 Sep 5;147(6):903-913. DOI:
0.1002/ajmg.b.30720.

39. Weiss LA, Arking DE, and The Gene Discovery Project of Johns Hopkins and the Autism

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Consortium. A genome-wide linkage and association scan reveals novel loci for autism. Nature. 2009 October 8;
461(7265): 802–808. DOI:10.1038/nature08490

40. Sasanfar R, Haddad S, Tolouei A, Ghadami M, Santangelo SL. Paternal age increases the risk for
autism in an Iranian population sample. Mol Autism. 2010 Feb 22;1(1):2-11. DOI: 10.1186/2040-2392-1-2.

41. Knight S, Coon H, Johnson M, Leppert MF, Camp NJ, McMahon WM; Tourette Syndrome
Association International Consortium for Genetics. Linkage analysis of Tourette syndrome in a large Utah
pedigree. Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):656-62.

42. Tausig M, Subedi J, Broughton C, Pokimika J, Huang Y, Santangelo SL, The Continued Salience of
Methodological Issues for Measuring Psychiatric Disorders in International Surveys, Int J Ment Health Addiction
2011; 9: 229-239. Published online June 25, 2010. DOI: 10.1007/s11469-010-9276-3

43. Lyall K, Pauls DL, Santangelo SL, Spiegelman D, Ascherio A. Maternal early life factors associated
with hormone levels and the risk of having a child with an autism spectrum disorder in the Nurses’ Health Study
II. J Autism Dev Disord. Published online 10 Aug 2010. DOI: 10.1007/s10803-010-1079-7

44. Crane J, Fagerness J, Osiecki L, Stewart SE, Pauls DL, Scharf JM, Tourette Syndrome International
Consortium for Genetics (TSAICG). Family-based genetic association study of DLGAP3 in Tourette Syndrome.
Am J Med Genet Part B, Neuropsychiatr Genet. 2011 Jan; 156B(1): 108-14. DOI: 10.1002/ajmg.b.31134. Epub
2010 Nov 2.

45. Chang SC, Lange C, Pauls DL, Sasanfar R, Santangelo SL. Autism spectrum disorders and common
genetic variation in the GAD1 gene and the entire family of DLX homeobox genes. Am J Med Genet Part B,
Neuropsychiatr Genet. 2011 March; 156(2): 233–239. DOI 10.1002/ajmg.b.31148. Epub 2010 Dec 16.

46. Robinson EB, Munir K, McCormick MC, Koenen KC, Santangelo SL. Brief Report: No Association
Between Parental Age and Extreme Social-Communicative Autistic Traits in the General Population. J Autism
Dev Disord. 2011 Dec;41(12):1733-7. Published online 25 February 2011. DOI 10.1007/s10803-011-1202-4.

47. Lyall K, Pauls DL, Spiegelman D, Ascherio A, Santangelo SL. Pregnancy complications and obstetric
suboptimality as risk factors for autism spectrum disorders in children of the Nurses’ Health Study II. Autism
Research, 2012 Feb;5(1):21-30. DOI: 10.1002/aur.228. Epub 2011 Oct 3.

48. Lyall K, Pauls DL, Santangelo SL, Spiegelman D, Ascherio A. Fertility therapies, infertility, and
autism spectrum disorders in the Nurses’ Health Study II. In press, Paediatr Perinat Epi.

49. Chang SC, Pauls DL, Lange C, Sasanfar R, Santangelo SL. Male-Specific Genetic Effects of Autism
Spectrum Disorders in a Family-Based Genome-wide Association Analysis. Submitted.

50. Chang SC, Lange C, Pauls DL, Santangelo SL. An integrative genomewide association analysis of
autism spectrum disorders combining ascertained family samples with unselected controls. Submitted.

51. McCaffery JM, Papandonatos GD, Santangelo SL, Lyons MJ, Niaura R, Abrams, D, Tsuang MT,
Buka S. Serotonin transporter promoter polymorphism, early environmental socioeconomic status and risk of
smoking in the New England Family Study. Submitted.

52. Lyall K, Munger K, O’Reilley E, Santangelo SL, Ascherio A. Maternal diet and risk of autism

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spectrum disorders: A focus on fatty acids. Submitted.

Reviews, Chapters, and Editorials

1. Faraone SV, Santangelo SL. Methods in Genetic Epidemiology. In: Research Designs and Methods in
Psychiatry: Techniques in the Behavioral and Neural Sciences. Amsterdam, Elseiver: M Fava, JF Rosenbaum, (Eds);
1992.

2. Folstein SE, Haines J, Santangelo SL. The genetics of autism. In: NeuroScience News; 1998.

3. Santangelo SL, Folstein SE. Autism: A Genetic Perspective. In: Neurodevelopmental Disorders:
Contributions to a New Framework from the Cognitive Neurosciences. Boston, MA: MIT Press; 1999. p. 431-448.

4. Folstein SE, Santangelo SL. Does Asperger Syndrome Aggregate in Families? In: Asperger Syndrome.
New York, NY: A. Klin, F.R. Volkmar & S.S. Sparrow (Eds.), Guilford Press; 2000. p. 159-171.

5. Shenassa E, McCaffery J, Niaura R, Swan G, Khroyan T, Shakib S, Mouttapa M, Lerman C, Lyons M,
Buka S, Leslie F, Santangelo S. Intergenerational transmission of tobacco use and dependence: A transdisciplinary
perspective. Nicotine Tob Res. 2003; 5 Suppl 1:S55-69. (Peer-reviewed)

6. Santangelo SL, Tsatsanis K. What is Known About Autism: Genes, Brain and Behavior. Am J
Pharmacogenomics 2005; 5(2):71-92 (Invited and Peer-reviewed)

7. Haddad S, Chen CA, Santangelo SL, Seddon JM. The Genetics of Age-Related Macular Degeneration:
A Review of Progress to Date. Surv Ophthalmol 51: 316-363, 2006. (Invited and peer-reviewed)

8. Psychiatric GWAS Consortium Coordinating Committee: Cichon S, Craddock N, Daly M, Faraone SV,
Gejman PV, Kelsoe J, Lehner T, Levinson DF, Moran A, Sklar P, Sullivan PF. Genomewide Association Studies:
History, Rationale, and Prospects for Psychiatric Disorders. Am J Psychiatry 2009; 166(5):540–556. (Peer-
reviewed) Am J Psychiatry. 2009 May; 166(5):540-56. Epub 2009 Apr 1. DOI: 10.1176/appi.ajp.2008.08091354

9. Cross-Disorder Phenotype Group of the Psychiatric GWAS Consortium, Craddock N, Kendler K, Neale
M, Nurnberger J, Purcell S, Rietschel M, Perlis R, Santangelo SL, Schulze T, Smoller JW, Thapar A. Dissecting
the phenotype in genome-wide association studies of psychiatric illness. Br J Psychiatry. 2009 Aug; 195(2):97-9.
(Invited and peer-reviewed) PMID: 19648536 [PubMed - in process]

10. Sullivan P, and 96 collaborators. Don’t give up on GWAS. Mol Psychiatry 2012 Jan 17(1): 2-3. DOI:
1038/mp.2011.94. Epub 2011 Aug 9.

Books, Monographs, and Textbooks

1. McAuliffe WE, Feldman B, Magnuson E, Santangelo S. Estimation Models of the Need for Drug
Treatment Services in Massachusetts. In: Division of Drug Rehabilitation, Department of Public Health; 1985 (State
of Massachusetts.)

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2. McAuliffe WE, Santangelo SL, Magnuson E, Ginsberg J, McAuliffe D. Assessment of the Need for Drug
Treatment Services in Massachusetts. In: Division of Drug Rehabilitation, Department of Public Health; 1986 (State
of Massachusetts.)

3. McAuliffe WE, Feldman B, Friedman R, Launer E, Magnuson E, Mahoney C, Santangelo S, Ward W,
Weiss R. Explaining relapse to opiate addiction following successful completion of treatment. NIDA Res
Monograph 1986; 72:136-56.

4. Santangelo, SL and Jagaroo V (Eds). Cognitive and Behavioral Phenotypes: New Trends for Research,
Classification and Diagnosis in Neuropsychology and Psychiatry in the series Innovations in Cognitive
Neuroscience, Springer Science (in progress, with a publication date of March 2013).