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CURRICULUM VITAE Name: Ioan Talfryn Thomas, M.D. Cell Phone: 985-630-8620 E-Mail: wiliam@earthlink.net Home Address: 4057 Jonathon Lane, Covington, LA 70433 Birthplace: 02/05/40 Gorseinon, Wales, UK Citizenship: Nationality American Educatio Undergraduate Education Welsh National School of Medicine, Cardiff, Wales, UK, 1959-1965 Graduate Education Not Applicable Internship Pediatrics, Welsh National School of Medicine July, 1965-June. 1966 Residency Pediatrics, Internal Medicine in adults , Welsh National School of Medicine July 1966 June 1972 Chief Residency, University of Washington, Seattle, Wa,USA July 1972 ñ June 1974 Post Doctoral Not Applicable Fellowships: Immunology, University of London, Institute of Child H Genetics and Pediatric Rheumatology: University of London, and Great Ormond Street Childrenís Hospital, London, UK July 1974 ñ June 1975 Genetics: University of Florida, Gainesville, FL, USA July 1983 ñ June 1985 Certification: I have applied for a DHH grant for 3y salary if I pick up a post in New Orleans M.B., B.Ch., 1965 Welsh National School of Medicine, Cardiff, Wales, UK MRCP, DCPediatricT There were no Pediatric Boards in the UK when I was a resident so I had to study for the Membership of the Royal College of Physicians in Adult Medicine, and was successful in gaining my Member of the Royal College of Physicians, London, UK, in 1971. The equivalent of the British Boards in Pediatrics was The Diploma in Child Health of the Royal Colleges of Physicians and Surgeons, and I gained their DCH.so that I had MRCP and DCH -- qualifications in Adult Medicine and Pediatrics American Board of Pediatrics, #32328, 1985 American Board of Medical Genetics, #870366, 1987 Fellow of The Academy of Pediatrics since1987 I am a reviewer for the journal, Pediatrics Licensure: Federal Licensing Examination, #177-340-7,1985 Florida Medical License #47208 September 17th 1985 Louisiana State Medical License, #10922R, 1994 to present Nevada State Medical License #12042 Sep16th 2006 for one year DEA# BT0400123 NPI# 1922173939 Awards and Honors: Gilleland Traveling Fellowship, Royal College of Physicians, London, UK, 1983 Academic, Professional, and Research Appointments: Professor, Dept Pediatrics, UNSOM, 2040 Charleston Blvd, Las Vegas, NV 89102 October 2006 for 6 months Professor, Dept Pediatrics, Louisiana State University Health Center, Department of Pediatrics, 1542 Tulane Avenue, New Orleans, LA 70112, June 1994 ñ December 2005. Lost my job because of the storm, Katrina Associate Professor, Head, Section on Medical Genetics, Department of Pediatrics, Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina, 1989 ñ 1994 Assistant Professor, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, 1987 ñ 1989 Assistant Professor, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, 1985 - 1986 Fellow, Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, 1983 ñ 1985 Consultant Pediatrician, Security Forces Hospital, Riyadh, Saudi Arabia (Granted Sabbatical form U.K. post) 1982 ñ 1983 Consultant Pediatrician, Prince Charles Hospital, Merthyr Tydfil Mid-Glamorgan, Wales, U.K. 1976 ñ 1982 Director, Pediatric Rheumatology, University of Wales Hospital, Welsh National School of Medicine, Cardiff, Wales, U.K. 1976 ñ 1982 Medical Research Council Fellow, Department of Immunology, Institute of Child Health, University of London, and Clinical Assistant at Hospital for sick Children, Great Ormond Street, London, U.K. 1974 ñ 1975 Chief Resident and Instructor, Department of Pediatrics University of Washington, Seattle, Washington, USA, 1972 ñ 1974 Research Registrar with Special Interest in Leukemia Department of Child Health, Welsh National School of Medicine, Cardiff, Wales, U.K. 1971ñ1972 Registrar, Department of Child Health, Welsh National School of Medicine, Cardiff, Wales, U.K. 1969 ñ 1971 Senior House Officer, Cardiology and Thoracic Medicine Welsh National School of Medicine, Sully Hospital South Glamorgan, Wales, U.K. 1968-1969 Senior House Officer and Resident Medical Officer, General Medicine Welsh National School of Medicine, Royal Infirmary Cardiff, Wales, U.K. 1967-1968 Senior House Officer, Department of Child Health, Welsh National School of Medicine, Cardiff, Wales, U.K. 1966-1967 House Surgeon, Neurosurgery, Welsh National School of Medicine Royal Infirmary, Cardiff, Wales, U.K. 1965-1966 Membership in Professional Organizations: Fellow, American Academy of Pediatrics Member, American Society of Human Genetics Teaching Experience/Responsibilities Formal Course Responsibilities: At LSUHSC I shared in the teaching of Genetics to Physicians preparing for their Boards in Pediatrics at an annual Pediatric Board Review Course for 1,000 people. I also shared in the teaching of Genetics in a Departmental Core Curriculum, with lectures every month. I have recently led the re-organization of the genetic section of the Core Curriculum, so that it is computerized. There were no lectures - the students are given a floppy disk containing instructions and 8 genetic questions, of which they must answer 4. The questions are clinical vignettes, and the students are asked to write a page about the genetics of the condition, of a standard that one might expect to accompany a letter to the referring physician, usually taken from OMIM. Each entry is submitted for grade points, and is presented in a small group session to 6 other students and a Genetic Faculty person. It might develop into a Course on the Web, with no lectures. It seems to work very well and is a course run on the Internet Special Clinical Rounds: Every Friday morning, we three geneticists hold Clinical Rounds on the wards at Childrenís Hospital, to which all Hospital Staff, residents, students, physicians and nurses are welcome. Graduate Students Trained: Past Laura Miller, 1995, M.S. candidate in Biometry and Genetics Janice Priest, 1996, Ph.D. candidate in Biometry and Genetics Derek Ragusa, current Ph.D. Candidate in Biometry and Genetics Nathan Markward, current Ph.D. Candidate in Biometry and Genetics The course Director is Dr. Bronya Keats. My duties are to provide them with 3 months Clinical Genetic experience. Thesis and Dissertation Committees: 1. Laura Miller, Ms, 1995, Dissertation ñ Legal and Ethical Challenges of Genetic Testing and screening 2. Janice Priest, Ph.D., 1996, Dissertation ñ Gene Localization of an X-Linked Neuropathy & Mutational Analysis of the FGFR2 Gene in Craniosynostosis. Grants and Contracts: Funded: 2005 Research project in cancer/genetics on Cowden syndrome, and another with a family with Familial Adenomatous Polyposis with/for a medical student at LSUHSC - $2000 for the student for the summer 2004 Research project in cancer/genetic syndromes with/for a medical student at LSUHSC - $2000 for the student for the summer 1999 A study of the Epidemiology of Hemifacial Microsomia with the Slone Epidemiology Unit of Boston University 1996 LSU Affiliation Enhancement Grant to develop computer-based genetic teaching 1993-94 Wake Forest University College of Medicine, NIDA Faculty Development Grant in Fetal Alcohol Studies. Non-funded: A study of pregnancy exposure to drugs and alcohol in mothers and their infants born at LSUHSC, using motherís blood, urine and hair, babyís cord blood, meconium, urine and hair, with estimations of alcohol exposure in cord blood, using acetaldehyde Hb as a marker. I have a syndrome named for me: Thomas syndrome: Potter sequence with cleft lip/palate and cardiac anomalies. Zlotgora J, Ariel I, Ornoy A, Yagel S, and Eidelman AI, Am J Med Genet 71(3):373-4, 1997 Journal Publications, referred: Suskind D, Tal Thomas et al. Dermoid sinuses in a mother and two daughters. Int J ped Oto-Laryngology in Press Sept, 2000 Hodes M. Tal Thomas et al. Additional Copies of the PLP Gene Causing Pelizeaus-Merzbacher Disease Arise by Separate Integration into the X Chromosome. Am J Hum Genet 67:14-22, 2000. Shetty AK, Thomas T, Rao J, Vargas A. Rickets and secondary craniosynostosis associated with long-term antacid use in an infant. Arch Ped & Adol Med. 15291(2):1243-5, 1998 Editorís comment 152(12):1168-9, 1998 Linarello RE, Shetty AK, Thomas T, Warrier RP. Triose phosphate isomerase deficiency in a child with congenital hemolytic anemia and sever hypotonia. Ped Hematol & One 15(6):553-6,1998 Riela AR, Thomas IT, Gonzalez, AR, Ifft, RD, Fryns syndrome: neurological findings in a survivor, J. Child Neurol, 1995:10(2):110-113 Pettenati MJ, Teort LA, Smith C. Hayworth R, Thomas IT, Veille JC, Rao PN, Unbalance mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of 2 cases. Am J Med Genet, 1993;45:365-369 Morris CA, Thomas IT, Greenberg F. Williams syndrome: autosomal dominant inheritance. Am J Med Genet 1993;47:478-481 Thomas IT, Lantz P, Berry P, Covitz Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases M. J. Pettenati, Ph.D. 1 *, L. A. Teot 3, C. Smith 1, R. Hayworth 1, I. T. Thomas 1, J. C. Veille 2, P. N. Rao . Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases. American Journal of Medical Genetics, Volume 45 Issue 3, Pages 365 - 369 M. J. Pettenati, Ph.D. 1 *, L. A. Teot 3, C. Smith 1, R. Hayworth 1, I. T. Thomas 1, J. C. Veille 2, P. N. Rao 1W, Garber P. Najjar syndrome revisited. Am J Genet, 1993 Jewett T. Rao RN, Weaver RG, Stewart Thomas IT, Pettanati, MJ, Blepharophimosis syndrome associated with interstitial deletion of bank 3q22: review and gene assignment to the interface of band 3q22.3q23. Am J Med Genet, 1993 Pettenati MJ, Rao N, Weager RG,Thomas IT, McMahan MR; Inversion (X)(p11.4q22)associated with Norrie disease in 1 4-generation family. Am J Med Genet, 1993;45:477-580. Journal Articles (cont) Thomas IT, Jewett T, Raines K, Gash C, Garber P. A new lethal syndrome of fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus in two male sibs. Am J Med Genet, 1993:46:180-181. Thomas IT, Honoree GM, Jewell T, Elvis H, Ruin C. Holzgreve syndrome: recurrence is sibs. Am J Med Genet, 1993:45:767-769. Pettenati MJ, Rao N, Nyland M, Yanamandra K, Jewett T, Thomas IT, Nelson L.Early amniocentesis: Bowman Gray School of Medicine experience. North Carolina Medical Genetics Newsletter, 1992:10:3. Journal Publications, referred ñ cont Pettenati MJ, Rao N. Johnson C, Thomas IT, Molecular cytogenetic analysis of a familial 8p23.1deletion associat4ed with minimal dysmorphic features seizures and mild mental retardation. Hum Genet, 1992;89,602-606. Langer LO, Brill PW, Afshani E. Williams CA, Thomas, IT, Frias JL. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type. Skeletal Radio, 1991;20:37-41. Weaver RG, Rao N. Thomas IT, Pettenati MJ, De novo inv(2) (p21q31) associated with isolated bilateral microphthalmia and cataracts. Am J Med Genet, 1991;40:509-512. Thomas IT, Frias JL. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet, 1990;47:167-168. Thomas IT, Hintz RJ, Frias JL. New methods of quantitative and qualitative facial studies; and overview. J. Craniofac Genet and Dev Bio. 1989;9:107-111. Thomas IT, Cantu ES, Lafer CZ, Flannery D. Graham Jr, Frias JL. Pigmentary anomalies, chromosomal mosaicism and chimerism. Am J Hum Genet, 1989;45:193. Cantu Es, Thomas IT, Frias JL. A mosaic karyotype involving three anomalies of chromosome 14, in a child with pigmentation disorder and multiple congenital malformations. Clin Genet, 1989;36:189-195. Thomas IT, Frias JL. The prospective management of cervicomedullary compression in achondroplasia. Birth defects: Original Article Series 1989;25(4):83-90. Thomas IT, Frias JL. The heart in selected congenital malformations: a lesson in pathogenetic relationships. Ann Cline Lab SCI, 1988:18(2): 174 Fraise JL, Thomas IT. Teratogens and teratogenesis. Ann Clin Lab Sci, 1988;18(2);174. Thomas IT, Frias JL. Cryptophthalmus. Am J Med Genet, 1988;30:389. Thomas IT, Williams JL. Frias JL, Friedman WA. Magnetic resonance imaging in the assessment of cervicomedullary compression achondroplasia. Amer J Dis Child, 1988;142:989-992. Thomas IT, Frias JL. Palpebral fissure length in childhood. J. Pediatr, 1988;111(2):267. Thomas IT, Hintz RJ, Frias JL. The application or remote sensing as a new measurement tool in dysmorphology. Proc Greenwood Genet Center, 1988;7:239. Thomas IT, Frias JL. The cardiovascular manifestations of genetic disorders of collagen metabolism. Ann Clin Lab Sci, 1987:17(6):377. Journal Publications, referred ñ cont Rosenblatt DS, Thomas IT, Watkins D, Cooper BA, Erbe RW. Vitamin B12-responsive, homocystinuria and megaloblastic anemia. Am J Med Genet, 1987;26(2):377. Thomas IT, Gaitantzis YA, Frias JL, Palpebral fissure length from 29 weeks gestation to 14 years. J. Pediatrics, 1987;111(2);267. Hintz RJ, Thomas IT, Merchant RK, Delineation of craniofacial anomalies of the fetal alcohol syndrome by close range photogrammetry. Proc Amer Soc Photogramm and Remote sensing. March 1986, 101. Thomas IT, Frias JL. Hypomelanosis of Lto and chromosomal mosaicism in fibroblasts. Lancet 1986;2:343. Thomas IT, Felix V, Sanchez de Leon L. Hernandez RA, Jones MS, Frias JL. Isolated and syndromic cryptophthalmus. Am J Med Genet. 1986;25:85. Thomas IT, Soothill JF, Hawkins GT, Marshall WC. Transfer factor treatment in congenital cytomegalovirus infection, Lancet 1977;2:1056. Pincus SH, Thomas IT, Clark RA, Ochs HD. Defective neutrophil chemotaxis with variant ichthyosis, hyperimmunologlobulinemia E. and recurrent infections J. Pediatr 1975;87:908. Thomas IT, Smith DW. Oligohydramnios, the cause of nonrenal features of Potter Syndrome, including pulmonary hypoplasia. J. Pediatr 1974;84:547. Weaver DD, Graham CB, Thomas IT, Smith DW. A new overgrowth syndrome with accelerated skeletal maturity, unusual facies and camptodactyl. J. Pediatr 1974:84:547. Thomas IT. Liver disease and immunodeficiency syndromes. Lance1974;1:311. Book Reviews: Thomas IT, NMS Genetics. Harwal Publishing, 1995. Thomas IT, A clinical atlas of roentgenocephalmetry in normal lateralis. Saksen, Walker, Bixler and Yu. Dysmorphol and Clin Genet t1 988; 2:58-59. Papers Presented & Abstracts 1. SOUTHERN GENETICS GROUP, 1999 Panama City, Florida. R. Bourgeois, Tal Thomas, PEHO revisited. 2. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1994, University of Tampa, Florida. A new syndrome of marfanoid habitus with open cranial fontanels persisting into adulthood. 3. AMERICAN SOCIETY OF HUMAN GENETICS, 1993. New Orleans, Louisiana, Osteoglyphic Dysplasia: a case report and literature review. 4. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1992, Winston-Salem, North Carolina. Hepatoblastoma with post-dated hemihypertrophy. 5. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1992, Winston-Salem, North Carolina. Hepatoblastoma with post-dated hemihypertrophy. 6. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATONS, 1991. Lake Arrowhead, California. A new lethal syndrome of fetal akinesia with a characteristic facial appearance, severe microphthalmia and truncus arteriosus. 7. 8th INTERNATIONAL CONGRESS ON HUMAN GENETICS, 1991 B. Washington, D.C. Familial sacral dysgenesis. 8. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATONS, 1990. Lexington, Kentucky. A unique phenotype associated with familial balanced t (9:18) translocation. Papers presented & Abstracts (cont) 9. SOUTHERN GENETICS GROUP, 1990, Destin Beach, Florida. Familial sacral dysgenesis. 1 DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1989, Madrid, Spain. Mulibrey Nanism a neglected diagnosis. 2 AMERICAN SOCIETY OF HUMAN GENETICS, 1987 ñ San Diego, California. Segregation analysis applied to the study of reciprocal translocations ñ a predictive equation. 3 DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1987, Greenville, South Carolina. Remote sensing: its applications to Dysmorphology. 4 MARCH OF DIMES BIRTH DEFECTS, 1987 ñ Minneapolis, Minnesota. Phenotypic heterogeneity in the EEC syndrome. Rasmussen S., Thomas IT and Frias, J.L. 5 SOCIETY CRANIOFACIAL GENETICS AND DEVELOPMENT BIOLOGY, 1987 ñMinneapolis, Minnesota. Modern methods of qualitative and quantitative analysis of the cranioface 6 APS-SPR MEETING, 1987 ñ Anaheim, California. Pigmentary anomalies, and chromosomal mosaicism, chimerism. 7 AMERICAN SOCIETY OF HUMAN GENETICS, 1986 ñ Philadelphia, Pennsylvania. Pigmentary anomalies, and chromosomal mosaicism, chimerism. 17. APS-SPR MEETING, 1986 ñWashington, D.C. Magnetic resonance imaging in the assessment of medullary compression in alchondroplasia. 18. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1986, Burlington, Vermont. Pigmentary anomalies and chromosomal mosaicism. 19 ASSOCIATION OF CLINICAL SCIENTISTS, 1985. The cardiovascular manifestation of genetic diseases of connective tissue. 20 ASSOCIATION OF CLINICAL SCIENTISTS, 1985. Louisville, Kentucky. The heart in selected congenital malformations ñ a lesson in pathogenetic relationships. 21 DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1985 ñ Santa Fe, New Mexico. The MRI in achondroplasia. Papers presented & Abstracts (cont) 22 APS-SPR MEETINGS, 1985 ñ Washington, D.C. Syndromic and isolated cryptophthalmos. 23. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1984 ñ Boca Raton, Florida. Variability of expression in cryptophthalmos syndrome. CURRICULUM VITAE Name: Ioan Talfryn Thomas, M.D. Cell Phone: 985-630-8620 E-Mail: wiliam@earthlink.net Home Address: 4057 Jonathon Lane, Covington, LA 70433 Birthplace: 02/05/40 Gorseinon, Wales, UK Citizenship: Nationality American Educatio Undergraduate Education Welsh National School of Medicine, Cardiff, Wales, UK, 1959-1965 Graduate Education Not Applicable Internship Pediatrics, Welsh National School of Medicine July, 1965-June. 1966 Residency Pediatrics, Internal Medicine in adults , Welsh National School of Medicine July 1966 June 1972 Chief Residency, University of Washington, Seattle, Wa,USA July 1972 ñ June 1974 Post Doctoral Not Applicable Fellowships: Immunology, University of London, Institute of Child H Genetics and Pediatric Rheumatology: University of London, and Great Ormond Street Childrenís Hospital, London, UK July 1974 ñ June 1975 Genetics: University of Florida, Gainesville, FL, USA July 1983 ñ June 1985 Certification: I have applied for a DHH grant for 3y salary if I pick up a post in New Orleans M.B., B.Ch., 1965 Welsh National School of Medicine, Cardiff, Wales, UK MRCP, DCPediatricT There were no Pediatric Boards in the UK when I was a resident so I had to study for the Membership of the Royal College of Physicians in Adult Medicine, and was successful in gaining my Member of the Royal College of Physicians, London, UK, in 1971. The equivalent of the British Boards in Pediatrics was The Diploma in Child Health of the Royal Colleges of Physicians and Surgeons, and I gained their DCH.so that I had MRCP and DCH -- qualifications in Adult Medicine and Pediatrics American Board of Pediatrics, #32328, 1985 American Board of Medical Genetics, #870366, 1987 Fellow of The Academy of Pediatrics since1987 I am a reviewer for the journal, Pediatrics Licensure: Federal Licensing Examination, #177-340-7,1985 Florida Medical License #47208 September 17th 1985 Louisiana State Medical License, #10922R, 1994 to present Nevada State Medical License #12042 Sep16th 2006 for one year DEA# BT0400123 NPI# 1922173939 Awards and Honors: Gilleland Traveling Fellowship, Royal College of Physicians, London, UK, 1983 Academic, Professional, and Research Appointments: Professor, Dept Pediatrics, UNSOM, 2040 Charleston Blvd, Las Vegas, NV 89102 October 2006 for 6 months Professor, Dept Pediatrics, Louisiana State University Health Center, Department of Pediatrics, 1542 Tulane Avenue, New Orleans, LA 70112, June 1994 ñ December 2005. Lost my job because of the storm, Katrina Associate Professor, Head, Section on Medical Genetics, Department of Pediatrics, Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina, 1989 ñ 1994 Assistant Professor, Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, 1987 ñ 1989 Assistant Professor, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, 1985 - 1986 Fellow, Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, 1983 ñ 1985 Consultant Pediatrician, Security Forces Hospital, Riyadh, Saudi Arabia (Granted Sabbatical form U.K. post) 1982 ñ 1983 Consultant Pediatrician, Prince Charles Hospital, Merthyr Tydfil Mid-Glamorgan, Wales, U.K. 1976 ñ 1982 Director, Pediatric Rheumatology, University of Wales Hospital, Welsh National School of Medicine, Cardiff, Wales, U.K. 1976 ñ 1982 Medical Research Council Fellow, Department of Immunology, Institute of Child Health, University of London, and Clinical Assistant at Hospital for sick Children, Great Ormond Street, London, U.K. 1974 ñ 1975 Chief Resident and Instructor, Department of Pediatrics University of Washington, Seattle, Washington, USA, 1972 ñ 1974 Research Registrar with Special Interest in Leukemia Department of Child Health, Welsh National School of Medicine, Cardiff, Wales, U.K. 1971ñ1972 Registrar, Department of Child Health, Welsh National School of Medicine, Cardiff, Wales, U.K. 1969 ñ 1971 Senior House Officer, Cardiology and Thoracic Medicine Welsh National School of Medicine, Sully Hospital South Glamorgan, Wales, U.K. 1968-1969 Senior House Officer and Resident Medical Officer, General Medicine Welsh National School of Medicine, Royal Infirmary Cardiff, Wales, U.K. 1967-1968 Senior House Officer, Department of Child Health, Welsh National School of Medicine, Cardiff, Wales, U.K. 1966-1967 House Surgeon, Neurosurgery, Welsh National School of Medicine Royal Infirmary, Cardiff, Wales, U.K. 1965-1966 Membership in Professional Organizations: Fellow, American Academy of Pediatrics Member, American Society of Human Genetics Teaching Experience/Responsibilities Formal Course Responsibilities: At LSUHSC I shared in the teaching of Genetics to Physicians preparing for their Boards in Pediatrics at an annual Pediatric Board Review Course for 1,000 people. I also shared in the teaching of Genetics in a Departmental Core Curriculum, with lectures every month. I have recently led the re-organization of the genetic section of the Core Curriculum, so that it is computerized. There were no lectures - the students are given a floppy disk containing instructions and 8 genetic questions, of which they must answer 4. The questions are clinical vignettes, and the students are asked to write a page about the genetics of the condition, of a standard that one might expect to accompany a letter to the referring physician, usually taken from OMIM. Each entry is submitted for grade points, and is presented in a small group session to 6 other students and a Genetic Faculty person. It might develop into a Course on the Web, with no lectures. It seems to work very well and is a course run on the Internet Special Clinical Rounds: Every Friday morning, we three geneticists hold Clinical Rounds on the wards at Childrenís Hospital, to which all Hospital Staff, residents, students, physicians and nurses are welcome. Graduate Students Trained: Past Laura Miller, 1995, M.S. candidate in Biometry and Genetics Janice Priest, 1996, Ph.D. candidate in Biometry and Genetics Derek Ragusa, current Ph.D. Candidate in Biometry and Genetics Nathan Markward, current Ph.D. Candidate in Biometry and Genetics The course Director is Dr. Bronya Keats. My duties are to provide them with 3 months Clinical Genetic experience. Thesis and Dissertation Committees: 1. Laura Miller, Ms, 1995, Dissertation ñ Legal and Ethical Challenges of Genetic Testing and screening 2. Janice Priest, Ph.D., 1996, Dissertation ñ Gene Localization of an X-Linked Neuropathy & Mutational Analysis of the FGFR2 Gene in Craniosynostosis. Grants and Contracts: Funded: 2005 Research project in cancer/genetics on Cowden syndrome, and another with a family with Familial Adenomatous Polyposis with/for a medical student at LSUHSC - $2000 for the student for the summer 2004 Research project in cancer/genetic syndromes with/for a medical student at LSUHSC - $2000 for the student for the summer 1999 A study of the Epidemiology of Hemifacial Microsomia with the Slone Epidemiology Unit of Boston University 1996 LSU Affiliation Enhancement Grant to develop computer-based genetic teaching 1993-94 Wake Forest University College of Medicine, NIDA Faculty Development Grant in Fetal Alcohol Studies. Non-funded: A study of pregnancy exposure to drugs and alcohol in mothers and their infants born at LSUHSC, using motherís blood, urine and hair, babyís cord blood, meconium, urine and hair, with estimations of alcohol exposure in cord blood, using acetaldehyde Hb as a marker. I have a syndrome named for me: Thomas syndrome: Potter sequence with cleft lip/palate and cardiac anomalies. Zlotgora J, Ariel I, Ornoy A, Yagel S, and Eidelman AI, Am J Med Genet 71(3):373-4, 1997 Journal Publications, referred: Suskind D, Tal Thomas et al. Dermoid sinuses in a mother and two daughters. Int J ped Oto-Laryngology in Press Sept, 2000 Hodes M. Tal Thomas et al. Additional Copies of the PLP Gene Causing Pelizeaus-Merzbacher Disease Arise by Separate Integration into the X Chromosome. Am J Hum Genet 67:14-22, 2000. Shetty AK, Thomas T, Rao J, Vargas A. Rickets and secondary craniosynostosis associated with long-term antacid use in an infant. Arch Ped & Adol Med. 15291(2):1243-5, 1998 Editorís comment 152(12):1168-9, 1998 Linarello RE, Shetty AK, Thomas T, Warrier RP. Triose phosphate isomerase deficiency in a child with congenital hemolytic anemia and sever hypotonia. Ped Hematol & One 15(6):553-6,1998 Riela AR, Thomas IT, Gonzalez, AR, Ifft, RD, Fryns syndrome: neurological findings in a survivor, J. Child Neurol, 1995:10(2):110-113 Pettenati MJ, Teort LA, Smith C. Hayworth R, Thomas IT, Veille JC, Rao PN, Unbalance mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of 2 cases. Am J Med Genet, 1993;45:365-369 Morris CA, Thomas IT, Greenberg F. Williams syndrome: autosomal dominant inheritance. Am J Med Genet 1993;47:478-481 Thomas IT, Lantz P, Berry P, Covitz Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases M. J. Pettenati, Ph.D. 1 *, L. A. Teot 3, C. Smith 1, R. Hayworth 1, I. T. Thomas 1, J. C. Veille 2, P. N. Rao . Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: Report of two cases. American Journal of Medical Genetics, Volume 45 Issue 3, Pages 365 - 369 M. J. Pettenati, Ph.D. 1 *, L. A. Teot 3, C. Smith 1, R. Hayworth 1, I. T. Thomas 1, J. C. Veille 2, P. N. Rao 1W, Garber P. Najjar syndrome revisited. Am J Genet, 1993 Jewett T. Rao RN, Weaver RG, Stewart Thomas IT, Pettanati, MJ, Blepharophimosis syndrome associated with interstitial deletion of bank 3q22: review and gene assignment to the interface of band 3q22.3q23. Am J Med Genet, 1993 Pettenati MJ, Rao N, Weager RG,Thomas IT, McMahan MR; Inversion (X)(p11.4q22)associated with Norrie disease in 1 4-generation family. Am J Med Genet, 1993;45:477-580. Journal Articles (cont) Thomas IT, Jewett T, Raines K, Gash C, Garber P. A new lethal syndrome of fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus in two male sibs. Am J Med Genet, 1993:46:180-181. Thomas IT, Honoree GM, Jewell T, Elvis H, Ruin C. Holzgreve syndrome: recurrence is sibs. Am J Med Genet, 1993:45:767-769. Pettenati MJ, Rao N, Nyland M, Yanamandra K, Jewett T, Thomas IT, Nelson L.Early amniocentesis: Bowman Gray School of Medicine experience. North Carolina Medical Genetics Newsletter, 1992:10:3. Journal Publications, referred ñ cont Pettenati MJ, Rao N. Johnson C, Thomas IT, Molecular cytogenetic analysis of a familial 8p23.1deletion associat4ed with minimal dysmorphic features seizures and mild mental retardation. Hum Genet, 1992;89,602-606. Langer LO, Brill PW, Afshani E. Williams CA, Thomas, IT, Frias JL. Radiographic features of craniometadiaphyseal dysplasia, wormian bone type. Skeletal Radio, 1991;20:37-41. Weaver RG, Rao N. Thomas IT, Pettenati MJ, De novo inv(2) (p21q31) associated with isolated bilateral microphthalmia and cataracts. Am J Med Genet, 1991;40:509-512. Thomas IT, Frias JL. Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. Am J Hum Genet, 1990;47:167-168. Thomas IT, Hintz RJ, Frias JL. New methods of quantitative and qualitative facial studies; and overview. J. Craniofac Genet and Dev Bio. 1989;9:107-111. Thomas IT, Cantu ES, Lafer CZ, Flannery D. Graham Jr, Frias JL. Pigmentary anomalies, chromosomal mosaicism and chimerism. Am J Hum Genet, 1989;45:193. Cantu Es, Thomas IT, Frias JL. A mosaic karyotype involving three anomalies of chromosome 14, in a child with pigmentation disorder and multiple congenital malformations. Clin Genet, 1989;36:189-195. Thomas IT, Frias JL. The prospective management of cervicomedullary compression in achondroplasia. Birth defects: Original Article Series 1989;25(4):83-90. Thomas IT, Frias JL. The heart in selected congenital malformations: a lesson in pathogenetic relationships. Ann Cline Lab SCI, 1988:18(2): 174 Fraise JL, Thomas IT. Teratogens and teratogenesis. Ann Clin Lab Sci, 1988;18(2);174. Thomas IT, Frias JL. Cryptophthalmus. Am J Med Genet, 1988;30:389. Thomas IT, Williams JL. Frias JL, Friedman WA. Magnetic resonance imaging in the assessment of cervicomedullary compression achondroplasia. Amer J Dis Child, 1988;142:989-992. Thomas IT, Frias JL. Palpebral fissure length in childhood. J. Pediatr, 1988;111(2):267. Thomas IT, Hintz RJ, Frias JL. The application or remote sensing as a new measurement tool in dysmorphology. Proc Greenwood Genet Center, 1988;7:239. Thomas IT, Frias JL. The cardiovascular manifestations of genetic disorders of collagen metabolism. Ann Clin Lab Sci, 1987:17(6):377. Journal Publications, referred ñ cont Rosenblatt DS, Thomas IT, Watkins D, Cooper BA, Erbe RW. Vitamin B12-responsive, homocystinuria and megaloblastic anemia. Am J Med Genet, 1987;26(2):377. Thomas IT, Gaitantzis YA, Frias JL, Palpebral fissure length from 29 weeks gestation to 14 years. J. Pediatrics, 1987;111(2);267. Hintz RJ, Thomas IT, Merchant RK, Delineation of craniofacial anomalies of the fetal alcohol syndrome by close range photogrammetry. Proc Amer Soc Photogramm and Remote sensing. March 1986, 101. Thomas IT, Frias JL. Hypomelanosis of Lto and chromosomal mosaicism in fibroblasts. Lancet 1986;2:343. Thomas IT, Felix V, Sanchez de Leon L. Hernandez RA, Jones MS, Frias JL. Isolated and syndromic cryptophthalmus. Am J Med Genet. 1986;25:85. Thomas IT, Soothill JF, Hawkins GT, Marshall WC. Transfer factor treatment in congenital cytomegalovirus infection, Lancet 1977;2:1056. Pincus SH, Thomas IT, Clark RA, Ochs HD. Defective neutrophil chemotaxis with variant ichthyosis, hyperimmunologlobulinemia E. and recurrent infections J. Pediatr 1975;87:908. Thomas IT, Smith DW. Oligohydramnios, the cause of nonrenal features of Potter Syndrome, including pulmonary hypoplasia. J. Pediatr 1974;84:547. Weaver DD, Graham CB, Thomas IT, Smith DW. A new overgrowth syndrome with accelerated skeletal maturity, unusual facies and camptodactyl. J. Pediatr 1974:84:547. Thomas IT. Liver disease and immunodeficiency syndromes. Lance1974;1:311. Book Reviews: Thomas IT, NMS Genetics. Harwal Publishing, 1995. Thomas IT, A clinical atlas of roentgenocephalmetry in normal lateralis. Saksen, Walker, Bixler and Yu. Dysmorphol and Clin Genet t1 988; 2:58-59. Papers Presented & Abstracts 1. SOUTHERN GENETICS GROUP, 1999 Panama City, Florida. R. Bourgeois, Tal Thomas, PEHO revisited. 2. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1994, University of Tampa, Florida. A new syndrome of marfanoid habitus with open cranial fontanels persisting into adulthood. 3. AMERICAN SOCIETY OF HUMAN GENETICS, 1993. New Orleans, Louisiana, Osteoglyphic Dysplasia: a case report and literature review. 4. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1992, Winston-Salem, North Carolina. Hepatoblastoma with post-dated hemihypertrophy. 5. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1992, Winston-Salem, North Carolina. Hepatoblastoma with post-dated hemihypertrophy. 6. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATONS, 1991. Lake Arrowhead, California. A new lethal syndrome of fetal akinesia with a characteristic facial appearance, severe microphthalmia and truncus arteriosus. 7. 8th INTERNATIONAL CONGRESS ON HUMAN GENETICS, 1991 B. Washington, D.C. Familial sacral dysgenesis. 8. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATONS, 1990. Lexington, Kentucky. A unique phenotype associated with familial balanced t (9:18) translocation. Papers presented & Abstracts (cont) 9. SOUTHERN GENETICS GROUP, 1990, Destin Beach, Florida. Familial sacral dysgenesis. 1 DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1989, Madrid, Spain. Mulibrey Nanism a neglected diagnosis. 2 AMERICAN SOCIETY OF HUMAN GENETICS, 1987 ñ San Diego, California. Segregation analysis applied to the study of reciprocal translocations ñ a predictive equation. 3 DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1987, Greenville, South Carolina. Remote sensing: its applications to Dysmorphology. 4 MARCH OF DIMES BIRTH DEFECTS, 1987 ñ Minneapolis, Minnesota. Phenotypic heterogeneity in the EEC syndrome. Rasmussen S., Thomas IT and Frias, J.L. 5 SOCIETY CRANIOFACIAL GENETICS AND DEVELOPMENT BIOLOGY, 1987 ñMinneapolis, Minnesota. Modern methods of qualitative and quantitative analysis of the cranioface 6 APS-SPR MEETING, 1987 ñ Anaheim, California. Pigmentary anomalies, and chromosomal mosaicism, chimerism. 7 AMERICAN SOCIETY OF HUMAN GENETICS, 1986 ñ Philadelphia, Pennsylvania. Pigmentary anomalies, and chromosomal mosaicism, chimerism. 17. APS-SPR MEETING, 1986 ñWashington, D.C. Magnetic resonance imaging in the assessment of medullary compression in alchondroplasia. 18. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1986, Burlington, Vermont. Pigmentary anomalies and chromosomal mosaicism. 19 ASSOCIATION OF CLINICAL SCIENTISTS, 1985. The cardiovascular manifestation of genetic diseases of connective tissue. 20 ASSOCIATION OF CLINICAL SCIENTISTS, 1985. Louisville, Kentucky. The heart in selected congenital malformations ñ a lesson in pathogenetic relationships. 21 DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1985 ñ Santa Fe, New Mexico. The MRI in achondroplasia. Papers presented & Abstracts (cont) 22 APS-SPR MEETINGS, 1985 ñ Washington, D.C. Syndromic and isolated cryptophthalmos. 23. DW SMITH WORKSHOP ON MORPHOGENESIS AND MALFORMATIONS, 1984 ñ Boca Raton, Florida. Variability of expression in cryptophthalmos syndrome.

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