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Curricula Vitae
Data: Dr. Jumana Yousuf Al-Aama
Saudi
Personal Statement:
I strive to bring the best of science to serve the Saudi family and build an infrastructure for the prevention, treatment, research, and education for hereditary disorders in Jeddah and the Western Region of the Kingdom of Saudi Arabia.
Current Posts:
1. Chairman of the Department of Genetic Medicine,
Faculty of Medicine, King Abdulaziz University,
Jeddah, Saudi Arabia
2. Director of Princess Al-Jawhara Center for Excellence
in Research of Hereditary Disorders, King Abdulaziz University,
Jeddah, Saudi Arabia
3. Assistant Professor of Pediatrics and Medical Genetics,
Consultant Pediatrician and Clinical Geneticist,
Faculty of Medicine, King Abdulaziz University Hospital,
Jeddah, Saudi Arabia
4. Part-time Consultant Clinical Geneticist,
International Medical Center (IMC),
Jeddah, Saudi Arabia
Certificates and Qualifications:
- MRCP (UK) Membership of The Royal College of Physicians of The United Kingdom November, 1998
- Saudi Board in Pediatrics. February, 2000
- FCCMG(C) Fellowship of The Canadian College of Medical Genetics, October, 2004
Additional training:
Pediatrics: Pediatrics at the Royal Hospital for Sick Children, Edinburgh, UK. (1998)
Fellowship in Clinical Genetics:
Eastern Ontario Regional Genetics Program, University of Ottawa, Children's Hospital of Eastern
Ontario (CHEO), Ottawa, ON, Canada including rotation at HSC (Hospital for Sick Children),
Toronto, Canada. October 2002- October 2004
Courses in training:
* The 5th Annual Course "Advances in
Molecular Medicine" King Abdul-Aziz University,
Faculty of Medicine & Allied Sciences in collaboration with
Tuft's University School of Medicine, Boston, MA, USA,
April 2000
* The 44th Annual Short Course in Medical and Experimental
Mammalian Genetics, The Jackson Laboratory, Bar Harbor,
Maine, USA. July 2004
* Problem-Based Learning (PBL) Tutor training workshop,
Faculty of Medicine, University of Ottawa, Ontario, Canada.
September 2004
* Basic Life Support (BLS Provider): International Medical Center,
Jeddah, KSA, March 11th, 2008-
Administrative Duties:
A. At King Abdulaziz University:
- Chairman of the Department of Genetic Medicine, Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia. April 2009-
- Director of the Princess Al-Jawhara Center for Hereditary Disorders, King Abdulaziz University
Hospital, Jeddah, Saudi Arabia. Aug 2008-
- Founder and supervisor of the Medical Genetic Unit at King Abdulaziz University Hospital.
March 2005-2010
- Chairman of the Curriculum Committee for the Genetic Module for medical students. April 2009-
- Organizer of the Curriculum Committee for the Genetic Module for medical students.
March 2007-April 2009
- Member of the committee of Saudi collaboration with the National Cancer Institute of Egypt. March 2010-
- Member of the Medical Faculty Accreditation Committee for Staff Members. Oct 2008-
- Member of Phase II curriculum. November 2009-
- Member of the 6th year pediatric medical student's academic committee. March 2008-2009
- Member of the 5th year pediatric medical students objective subjective clinical examination (OSCE) team. March 2005 - 2008
- Member of Pediatric Department Continuous Medical Education (CME) Committee September 2005-Feb 2009
- Member of the Pediatric Department Committee for Educational Resources for Patients and
Families. October 2007- May 2008
- Coordinator of the Pediatric Radiology Meeting. Academic Years 2000-2002
- Member of the 6th year medical student's academic committee. September 2000-July 2002
B. At Gulf University in Kingdom of Bahrain:
- Member of the Board of Directors for the Princess Al-Jawhara Center of Molecular Medicine and Genetic Disorders. 2009
C. At the Children’s hospital of Eastern Ontario (CHEO):
- Member of the Genetics Quality Management Team. 9/2003-9/2004
D. In The Pediatric Policy and Procedures Committee for The Makkah Region:
- Coordinator of the Genetics Sub- Committee 2005- 2007
E. At Abdul-Lateef Jameel Rehabilitation Center, Jeddah:
- Member of the Board of Trustees. November 2005- May 2008
Clinical Duties:
- Founder and supervisor of the Medical Genetic Unit (Jan 2005 – March 2010)
- General genetic clinic
- Down syndrome clinic
- Genetic counseling clinic
- Referrals and consults for genetic disorders
- Supervision of house officers and trainees from various departments and hospitals rotating in clinical genetics.
Academic Activities and Teaching:
A. Undergraduates:
- Pediatric Clinical Teaching of 5th & 6th yr medical students 2001-2002, 2005-2009
- Genetic lectures 6th year medical students 2005 -¬¬¬¬¬¬¬¬¬¬¬ 2010
- Tutorial in the musculoskeletal module group of lectures-2007
- Genetic curriculum 4th year medical students: Clinical Genetic lectures 2009-
- Genetic curriculum 3rd year medical students 2010
- Ethics Course 4th year medical students: Ethics in Medical Genetics 2010-
- Pediatric Course 5th year medical students: Approach to the dysmorphic child 2010-
B. Post graduates (KAUH):
- Lectures for Master Degree in Pharmacology Principles of Medical Genetics 2005 - now
- Postgraduate teaching Genetics for Obstetric residents 2006- 2007
- Lecture for Dentistry Post-graduates: Congenital Malformations 2006 - now
- Postgraduate teaching (genetics and dysmorphology) Pediatric residents. 2006 – 2007
- Clinical Course: Membership of the Royal College of Pediatrics and Child Health Part II Course: Communication Skills for the MRCPCH. May 16th-18th, 2005
- Clinical Course: Membership of the Royal College of Pediatrics and Child Health Part II Course: Developmental assessment of children for the MRCPCH. November 19-21, 2005
- Clinical Course: Membership of the Royal College of Pediatrics and Child Health Part II Course: Communication Skills for the MRCPCH. April 29th -May 1st , 2006
- Clinical Course: Membership of the Royal College of Pediatrics and Child Health Part II Course: Developmental assessment of children for the MRCPCH. Oct 22, 2007.
- Invited speaker: Intensive written course “Pediatrics in Review”. February 18, 2006
C. Post graduates as invited speaker:
- The 7th Scientific Conference for Medical Students in the GCC Countries: Genetic Disorders and Genetic Counseling Workshop. King Abdulaziz University Hospital, February 14-15, 2010. Jeddah, Saudi Arabia
- 5th Annual Internal Medicine Board Review Course. Genetics. King Faisal Specialist Hospital & Research Center (KFSHRC), April 30, 2008. Jeddah, Saudi Arabia
- Workshop: Genetic Counseling. 5th Scientific Conference for Medical Students in GCC Countries. Gulf University, February 8, 2008. Al-Manamah, Bahrain
- 2nd Pediatric Intensive Review Course. Genetics. King Abdulaziz Medical City, National Guard Hospital, Oct 24, 2007. Jeddah, Saudi Arabia
- Invited speaker: Lecture "Pervasive Developmental Disorders: Genetic and Other Causes" The 8th annual symposium on communication disorders. Jeddah Institute for Speech and Hearing (JISH). May 4, 2006. Jeddah, Saudi Arabia
- 3rd Annual Internal Medicine Board Review Course. Genetics. King Faisal Specialist Hospital & Research Center (KFSHRC). May 6-10th, 2006. Jeddah, Saudi Arabia
- Invited speaker; Lecture: The Genetic Service at KAUH. Pediatric Grand Rounds. King Faisal Specialist Hospital & Research Center (KFSHRC), November 28. 2005. Jeddah, Saudi Arabia
- 2nd Annual Internal Medicine Board Review Course. Genetics. King Faisal Specialist Hospital & Research Center (KFSHRC). May 1, 2005. Jeddah, Saudi Arabia
- Invited speaker; Workshop: Syndromes associated with communication disorders: Diagnosing genetic syndromes- Implications and Methods. Jeddah Institute for Speech and Hearing (JISH). May 5, 2005, Jeddah, Saudi Arabia
- Invited speaker: Role of the Clinical Geneticist. Al-Azizia Hospital. March 27th, 2005, Jeddah, Saudi Arabia
Publications:
1. Jumana Y. Al-Aama. Attitudes towards mandatory national premarital screening for hereditary hemolytic disorders. Health policy 2010,doi:10.1016/j.healthpol.2010.02.009
2. Hucthagowder V, Morava E, Kornak U, Lefeber D, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis E, Abuelo D. Adamowicz M, Jumana Y. Al-Aama, Vanagaite L, Fernandez B, Greally M, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Turkmen S, Tuysuz B, Yuksel-Konuk B, Mundlos S, Maldergem L, Webers R, Urban Z. "Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastion secretion and cell survival" Human Molecular Genetics, 2009,vol 15,18(12):2149.65
3. Kaput J, Cotton R, Hardman L, Watson M, Al Aqeel A, Jumana Y. Al-Aama, Al-Mulla F, Aretz S, Auerbach A, Axton M, Bapat B, Barash C. et. al. " Planning the Human Variome Project: The Spain Report" Human Mutation. 2009; 30(4): 496 – 510
4. Jumana Y. Al-Aama, Baraa K. Al-Nabulsi, Mohammad A. Alyousef, Nawal A. Asiri, Sawsan M. Al-Blewi. Knowledge regarding the national premarital screening program among university students in western Saudi Arabia. Saudi Med J. 2008 Nov;29(11):1649-53
5. Jumana Y. Al-Aama. Clinical Genetics: Practical Applications for Dentists and Oral Surgeons. Saudi Dental Journal 2008; 20(SI)-Abstr.064
6. Adeel G. Chaudhary, Mohammed H. Alqahtani, Adel Abuzenadah, Mamdooh Gari, Abeer A. Al- Sofyani, Jumana Y. Al-Aama, Sahira A. Lary, Aisha H. Elaimi.Mutation analysis in Saudi Duchenne and Becker muscular dystrophy patients using multiplex PCR. Arch Med Sci 2008; 4, 1: 16–21
7. Nadia Fida, Jumana Al-Aama, Wafaa Nichols, Mohamed Alqahtani. A prospective study of congenital malformations among liveborn neonates at a University Hospital in Western Saudi Arabia. Saudi Medical Journal 2007; Vol. 28 (9): 1367-1373
8. Al-Aama J. Correspondence re: Prevalence of factor V Leiden and prothrombin G20210A gene mutation. Saudi Med J 2005; vol 26 (11): 447
9. Fida N, Al-Aama J. Pattern of Infant Feeding at a University Hospital in Western Saudi Arabia; Saudi Med J 2003; vol 24 (7): 725-729
10. Al-Aama J, Shaabat A. Status Epilepticus: Can the Incidence be Reduced? Neurosciences 2002; Vol. 7 (4): 236-241
11. Al-Aama J, Saadi S. Testicular Torsion: An Antenatal Event? Saudi J Obst Gynecol; July 2002, vol 2, No3, 153-157
Funded Research Projects:
- Genetic Disorders at King Abdulaziz University Hospital: Pattern of Distribution and Prospects for Prevention. Project no. 427/023. Part 1. February 2007 – November 22, 2007.
- Genetic Disorders at King Abdulaziz University Hospital: Pattern of Distribution and Prospects for Prevention. Project no. 427/023. Part 2. November 2007 – July 20, 2008.
- A Prospective Study of Congenital Anomalies (Malformations) Among Live Born Neonates at King Abdulaziz University Hospital. Project no. 424/023. Co-investigator. February 2004 - June 29, 2005.
- Clinical and Molecular characteristics of Noonan Syndrome among Arabs at King Abdulaziz University Hospital. King Abdulaziz City for Science and Technology. Project no. 8-MED112-3. 2008 –
Current Research Projects:
- The Clinical and Molecular Characteristics of Noonan Syndrome among Arabs.
- Attitude Towards Puberty in the Mentally Challenged.
- International type II Diabetes Mellitus Project.
- Meir – Gorlin syndrome: Case reports and literature review.
Reviewer:
I was invited to review proposals/manuscripts for the following:
- Health policy: The scientific journal published by Elsevier.
- King Abdul-Aziz City for Science and Technology (KACST) for research proposal.
- Human Mutation: The scientific journal published by Wiley-Leiss
Presentations (International)
Poster Presentation: "Genetic Disorders: Experience in Saudi Arabia". The 2010 Annual Clinical Genetics Meeting Albuquerque Convention Center. 24 - 28 March 2010. Albuquerque, New Mexico, USA
Oral Presentation: "Setting up a Medical Genetic service from scratch". Creative Women In Genetics.
16 - 17 May 2009. Al Manama, Bahrain
Oral Presentation: "Genetic Disorders in Jeddah, Saudi Arabia". The Second Al Ain International Genetics Conference. 28-30 October, 2008. Al Ain, United Arab Emirates
Oral Presentation: "Obstacles to Genetic Data Collection in Emerging Countries: Experience in Saudi Arabia". The Human Variome Project Planning Meeting, 25-29 May, 2008. Costa Brava, Spain
Oral Presentation: "Congenital Malformations at KAUH". Guest Speaker. 5th Scientific Conference for Medical Students in GCC Countries. Feb 8th 2008. Al-Manamah, Bahrain
Poster Presentation: "A second report of a Potentially new form of Distal Arthrogryposis". American College of Medical Genetics (ACMG) Conference, 2007. Nashville, Tennessee, USA
Poster Presentation: "A Unique Autosomal Dominant Type II Distal Arthrogryposis with Congenital Heart Disease and Cryptorchidism" American College of Medical Genetics (ACMG) Conference, 2004, Florida, USA
Poster Presentation: "Integrated Prenatal Screening in Eastern Ontario: Lessons from the First 18 Months" American Society of Human Genetics (ASHG) Meeting, 2004, Toronto, Canada
Presentations (National):
Oral Presentation: "Approach to a Dysmorphic Child" Updates in Medical Genetics, Maternity and Children Hospital and Saudi Society of Medical Genetics, Jeddah, Saudi Arabia. 10th – 11th March 2010
Oral Presentation: "Approach to a Child with Dysmorphic Features " First International Symposium of Child Health Evidence Based Review for Pediatrics, King Fahad Medical and Research Center, KAUH, Jeddah, Saudi Arabia. 12th – 14th October 2009
Oral Presentation: "Non-Mendelian Pattern of Inheritance of Common Genetic Disorders " First International Symposium of Child Health Evidence Based Review for Pediatrics, King Fahad Medical and Research Center, KAUH, Jeddah, Saudi Arabia. 12th – 14th October 2009
Oral Presentation: "Pharmaco-genetics: Selecting the right medicine for the right patient" First International Symposium of Child Health Evidence Based Review for Pediatrics, King Fahad Medical and Research Center, KAUH, Jeddah, Saudi Arabia. 12th – 14th October 2009
Oral Presentation: "Approach to Dysmorphic Child" First Makkah Pediatric Symposium, Al-Noor Specialist Hospital, Makkah, Saudi Arabia. 2nd- 3rd June 2009
Oral Presentation: "Research Opportunities for Medical Students" 2nd Medical Student Research Day, King Abdulaziz University Hospital, Jeddah, Saudi Arabia. 16th April 2009
Oral Presentation: "The Dysmorphic Child: Approach and Clinical Examples" Pediatric Update 2009 Symposium, King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia. 13th April 2009
Oral Presentation: "Genetics of Cardiac Diseases" 11th King Fahad Armed Forces Hospital International Cardiac the Conference, (Delivering Complete Management of Cardiovascular Diseases) Jeddah, Saudi Arabia. 5th March 2009
Oral Presentation: "Medical Genetics for Physicians". The 1st Conference of Saudi Society of Internal Medicine and the 4th Conference of the Department of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia. 12th March 2008
Oral Presentation: "Clinical Genetics: Practical Applications for Dentists and Oral Surgeons" 19th Saudi Dental Society Conference for Dental Technology and Research, Jeddah, Saudi Arabia. 13th March 2008
Oral Presentation: "Syndromic Mental Handicap". 9th Jeddah Pediatric Club Meeting, Jeddah, Saudi Arabia. 5th Feb 2008
Oral Presentation: "Genetics of Breast Cancer". The First Princess Noorah Oncology Center International Breast Cancer Symposium. King Abdulaziz Medical City, King Khalid National Guard Hospital, Jeddah, Saudi Arabia. 27th – 28th Nov 2007
Oral Presentation: "Clinical Genetics in Feto-Maternal Medicine." The 4th International Gulf Congress in Obstetrics and Gynecology, Jeddah, Saudi Arabia. 5th April 2007
Oral Presentation: "From Breakthrough Research to the Patient in the Genetic Clinic." Pediatric Update Conference; Genetics and 21st Century Pediatrics: Diagnosis and Intervention. King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia. 17th April 2007
Oral Presentation: "Syndromic Mental Retardation." Pediatric Update Conference; Genetics and 21st Century Pediatrics : Diagnosis and Intervention. King Faisal Specialist Hospital and Research Center, Jeddah, Saudi Arabia. 18th April 2007
Oral Presentation: "Genetic Counseling." First International Conference of Child Health, Jeddah, Saudi Arabia. 21st November 2006
Oral Presentation: "Recognizing Genetic Syndromes." Ambulatory Pediatric Symposium. King Abdulaziz University, Jeddah, Saudi Arabia. 11th May 2005
Oral Presentation: "Brachial Plexus Palsy: An intra-uterine Etiology?" Annual Saudi Conference of Obstetrics & Gynecology, Jeddah, Saudi Arabia. June 2002
Oral Presentation: "Status Epilepticus in pediatric patients at KAUH: Audit Strategies to improve outcome." At 10th Saudi Neurosciences Symposium. King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Oct 2000
Organizing scientific meetings:
1. Member of the Scientific and Organizing Committee for the Pediatric Update Conference; Genetics and 21st Century Pediatrics: "Diagnosis and Intervention" at King Faisal Specialist Hospital and Research Center. Jeddah, Saudi Arabia. November 1, 2006– April 17, 2007.
2. Member of the Scientific Committee of The International Symposium on Child Health: Evidence Based Review for Pediatrics. March 2008-
3. Head of the Media Committee of The International Symposium on Child Health: Evidence Based Review for Pediatrics. March 2008- Feb 2009.
4. Organizing and overviewing the Workshop: Launching of Princess Al-.Jawhara Center of Excellence in Research of Hereditary Disorders: International Research Strategic Planning meeting. Jeddah, Saudi Arabia. March 3, 2009.
Chairperson for scientific meetings:
- Updates in Medical Genetics, Maternity and Children Hospital and Saudi Society of Medical Genetics. March 10-11, 2010. Movenpick Hotel, Jeddah, KSA
- The 2nd Inherited Hemolytic Anemia Update Course and Workshop. May 4, 2009. King Fahad Medical and Research Center, KAUH. Jeddah, KSA
- The 1st Middle East – EFI Educational Symposium. Jan 11-12 2009. King Abdullah International Medical Research Center. Riyadh, KSA
Other significant conferences and workshops attended:
- Harvard University Workshop. "Introduction to Clinical Investigation and Health Outcomes Research". April 24-26, 2010. Organized by the Department of Medical Education, King Abdulaziz University, Jeddah, KSA
- Workshop on The Medical Ethics Course. February 20-21, 2010. King Abdulaziz University, Jeddah, KSA
- Workshop: Academic Leadership of Women in Higher Education. January 6-7, 2010. Organized by the Center for Teaching and Learning. King Abdulaziz University, Jeddah, KSA
- The Fourth Annual Dubai Harvard Foundation for Medical Research Scientific Conference "Partners in Research". Baniyas, Grand Hyatt Hotel, Dubai. November 17, 2009. Dubai, UAE
- The 2nd Qatar Genetics Symposium "Advances in Medical Genetics". Hajar Auditorium, Qatar. Oct. 31, 2009. Doha, Qatar
- Deanship for Scientific Research Strategic Planning Meeting Analysis. King Abdulaziz University. June 14, 2009. Jeddah, KSA
- The 2nd International Conference of Medical Genetics. Kuwait. Marina Hotel. April 13-15, 2008. Kuwait
- The 2nd Pan Arab Human Genetics Conference. November 20-22, 2007. Dubai, UAE
- The 6th GCC Medical Education Conference and the 2nd Meeting of the Saudi Medical Education Society. November 6-7, 2007. King Abdulaziz University, Jeddah, KSA
Public Lectures:
- "Genetic Causes of Autism". King Abdulaziz University. March 21, 2010. Jeddah, Saudi Arabia
- "Genetic Causes of Mental Handicap". The Help Center 4th Symposium, Young Adults & Beyond Towards a Secure & Stable Future, Help Center. January 26-28, 2009. Jeddah, Saudi Arabia
- "Hereditary Breast Cancer". Breast Cancer Awareness Day. International Medical Center. Oct 31, 2007. Jeddah, Saudi Arabia
- "Premarital Testing in KSA". Public Forum on the Prevention of Genetic Disorders. King Faisal Specialist Hospital and Research Center, April 18, 2007. Jeddah, Saudi Arabia
- "Hereditary Breast Cancer". Breast Cancer Awareness Day. International Medical Center. Oct 31, 2006. Jeddah, Saudi Arabia
- "Integration of special needs children in Schools." 3rd Educational Symposium for Teachers. Ministry of Education. September 19-20, 2006. Jeddah, Saudi Arabia
- "Medical Genetics in Schools." 2nd Educational Symposium for Teachers. Ministry of Education. September 20, 2005. Jeddah, Saudi Arabia
- "Prevention of Genetic Disorders". WHO International Health Day at KAUH. April 10, 2005. Jeddah, Saudi Arabia
Educational Materials includes:
1. Pamphlets:
- Klinefilter syndrome. 2009
- What Genetic consultation is? 2009
- Down syndrome. 2009
- Sickle cell anemia. 2009
- G6PD. 2009
- Dealing with Williams syndrome for parents. 2008
- William syndrome for parents and families. 2008
- What do you know about Cornelia de Lange syndrome? 2007
- Breast feeding in Down syndrome. 2007
- Noonan syndrome for parents and families. 2007
- The National Pre-marital screening test: What do you know about it? 2006
- Patau syndrome. 2006
2. Newsletter:
Editor of Weratha Newsletter "The official Newsletter of Princes Al Jawhara Center of Excellence in Research of Hereditary Disorders". March 2009.
3. Public appearances:
Includes interviews regarding hereditary disorders and their prevention on TV, local radio, local and gulf newspapers and various magazines (Roa, Hiya, Sayidaty and Health and Life).
Professional Organizations:
- Member of the Saudi Pediatric Association Jan 2004 -
- Fellow and Member of the Canadian College of Medical Geneticists Oct 2004
- Member of the American Society of Human Genetics Oct 2004 -
- Member of Community Genetics Network International multidisciplinary newsletter Feb 2009-
Honors and Awards:
• Award of Excellence in the field of scientific publishing for the academic year 1429 to 1430 AH. From the Deanship of Scientific Research, King Abdulaziz University. November 10, 2009
• Honored by the Princes Al- Jawhara Center of Molecular Medicine and Genetic disorders at the Gulf University in Bahrain for scientific achievement among the "Creative Women in Genetics" in the Arab World.
• Linda Stevens Memorial Fund towards the 44th Annual Short Course in Bar Harbor, Maine through The Awards Committee of CCMG, May 2003
• The Ministry of Higher Education of Saudi Arabia Scholarship Award towards specialization in Medical Genetics. April 2002
Collaborators and Visitors To The Medical Genetic Unit and Princes Al Jawhara Center of Excellence in Research of Hereditary Disorders at King Abdulaziz University Coordinated by Dr. Jumana Al-Aama
- 2008 Prof. Ahmed Teebi, Weill Cornell Medical College, Qatar
- 2009 Prof. Judith Allanson, University of Ottawa, Canada
- 2009 Prof. Richard Cotton, University of Melbourne, Australia
- 2009 Prof. Shawky Tayel, University of Alexandria, Egypt
- 2009 Dr. James Kaput, FDA/ National Center for Toxicological Research, USA
- 2009 Dr. Zahir Bhuiyan, University of Amsterdam, Netherlands
- 2009 Dr. Zilfalil Bin Alwi, University of Sains, Malaysia
- 2009 Dr. Joseph Gleeson, University of California, USA
Last Updated 4th May 2010
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