charles a. williams, m.d. · 8/3/2020 · charles a. williams, m.d. 1 . updated august 3, 2020 ....

Charles A. Williams, M.D.

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Updated August 3, 2020 CURRICULUM VITAE NAME: Charles A. Williams, M.D. Professor Emeritus of Pediatrics and Medical Genetics Division of Genetics and Metabolism University of Florida College of Medicine 1701 SW 16th Ave Gainesville, FL 32608 Email: [email protected] Web site: https://genetics.pediatrics.med.ufl.edu/our-team/faculty/charles-williams/ EDUCATION: 1966-70: B.S., University of South Florida, Tampa. 1971-71: Department of Chemistry University of South Florida, Tampa, (postgraduate) 1971-75: M.D., University of Florida College of Medicine, Gainesville, FL. 1975-76: Department of Pediatrics, PL-1, Medical University of South Carolina, Charleston, S.C. 1976-77: Department of Pediatrics, PL-2, University of Florida COM, Gainesville, FL. 1977-78: Department of Pediatrics, PL-3, University of Florida COM, Gainesville, FL. 1979-84: Clinical training in genetics with Jaime Frias M.D., Chief, Division of Genetics,

Department of Pediatrics, University of Florida, Gainesville, FL, FACULTY APPOINTMENTS: 1978-1978: Visiting Instructor, Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville 1978-1980: Instructor, Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville 1980-1986: Assistant Professor, Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville 1986-1996: Associate Professor and Chief, Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville 1996-2000: Professor and Chief, Division of Genetics, Department of Pediatrics, University of Florida College of Medicine, Gainesville 2000-2016: Professor, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville 2016-present Professor Emeritus, Division of Genetics and Metabolism, Department of Pediatrics,

University of Florida College of Medicine, Gainesville MEDICAL STAFF APPOINTMENTS UF Health Shands Teaching Hospital, 1978-present Nemours Children’s Hospital, Orlando, Fl, 2017- 2019 Valley Children’s Hospital, Fresno, CA, 2018- present Weatherby Healthcare, (for locum tenens), 2017-present


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OTHER APPOINTMENTS: Medical Director, Sunland Center, Gainesville, FL 1978-1986 Director, Division of Genetics, University Medical Center, Jacksonville, Florida, 1990-1994 General practice physician, Hoopa Indian Reservation, Hoopa, CA and emergency department physician, Mad River Community Hospital, Arcata, CA (leave of absence for purpose of sabbatical, 1992-1993) General practice physician, Hoopa Indian Reservation, Hoopa, CA, occasional locum tenens 2000-2012. Clinical Affiliate, Health Professions Division, College of Allied Health and Nursing, Nova Southeastern University, 2012- 2016 YEAR TENURE AWARDED BY UF: 1984 ORIGINAL CERTIFICATE Diplomate, National Board of Medical Examiners' Certificate #464663, July 1, 1976 ACTIVE BOARD CERTIFICATIONS: Diplomate, American Board of Pediatrics' Certificate #27611, May 17, 1982. Lifetime certification. Diplomate, American Board of Medical Genetics, Clinical Genetics, License #1912, October 15, 1984. Lifetime certification. LICENSURE: State of Florida, Board of Medicine, Physician license, # ME30918, July 19, 1977-present State of California, Board of Medicine, Physician license, #G-074158, May 31, 1992-present SOCIETY MEMBERSHIPS: Florida Medical Association, 1978-2006 American Academy of Pediatrics, Section on Genetics, 1991-1999 American Academy of Pediatrics, 1978-1995 Alachua County Medical Society, 1978-2005 Florida Pediatric Society, 1978-2006 Southern Society for Pediatric Research, 1982-87 American Society of Human Genetics, 1984-2014 Teratology Society, 1984-2003 National Neurofibromatosis Foundation, 1986-91 Florida Chapter, Neurofibromatosis Foundation, 1986-91 Association of Directors of Departments of Medical or Human Genetics, 1994-1999. Coalition of Regional Networks, Teratogen Information Committee, 1991-1997 Society for Inborn Errors in Metabolism, 1998-00 Florida Cleft Palate/Craniofacial Society, 1999-2003 Society for Pediatric Research, 2007 EDITORIAL/REVIEWER: American Journal of Human Genetics, 1995- 2016 American Journal of Medical Genetics, 1989- Teratology, 1989- 2006 Neuropsychiatric Genetics, Field Editor Specialty Section of Am J Med Genet, 1993-2005 Journal of Pediatrics 1996- 2016


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Biological Psychiatry 2001-2004 Brain, 2006-2008 European Journal of Human Genetics, 2000- 2016 Clinical Genetics, 2002-2017 Other journals as requested UNIVERSITY GOVERNANCE AND SERVICE: Medical Director, Alachua County Organization for Rural Needs (ACORN) Clinic, 1983-85 Physician, UF Equal Access Clinic Network (EACN), 2018- present Professional Advisory Committee on Medical Services, Department of Health and Rehabilitative Services, State of Florida, 1983-85 HRS State Medical Education Committee, 1983-1985 Florida Special Olympics, Board Member and Chairperson of Medical Advisory Committee, 1984-88 Florida Center for Children and Youth, Board Member, 1984-92 Florida Center for Children and Youth, Treasurer, 1987-91 Director, Neurofibromatosis Clinic, University of Florida, 1985-89 Florida Developmental Disabilities Council, Member by gubernatorial appointment, 1986-88 Rehabilitation Planning Committee, University of Florida College of Medicine, 1986-1990 Professional Review Committee (Monitor), Department of Pediatrics, 1987-1990 Director and Founder, Angelman Research Group, 1987-92 Member, Florida Genetic and Infant Screening Advisory Committee, 1991-1995 Director, Florida Regional Genetics Program, Children's Medical Service, State of Florida, 1986-2000 Professional Review Committee (Monitor), Department of Pediatrics, 1987-1990 Director, Raymond C. Philips Research and Education Unit, 1990-2000. Member, Scientific Advisory Committee, International Angelman Syndrome Organization, 2000- 2003 Director, Teratogen Information Service, University of Florida, 1986-1996

This program was funded by the State of Florida for the purpose of providing information predominantly to public health departments and practicing obstetricians regarding the effects of patient medication or agent exposures that have risk for causing birth defects. Throughout the state, our program received calls, mostly from obstetricians, and we provided written documentation about teratogen effects of any the agents that they wished to query. A summary of the program can be found in the publication: LaFauce L, Ausbon W, Moffett M, Williams CA: The Florida Teratogen Information Service. Florida Medical Journal 24:319-324, 1988.

Member, Board of Directors, Angelman Syndrome Foundation, 1990-1999 Member, Board of Directors, Angelman Syndrome Foundation, 2007-2016 Member, Scientific Advisory Committee, Angelman Syndrome Foundation, 1990-present Chair, Scientific Advisory Committee, Angelman Syndrome Foundation, 1993-2000, 2008-2012 Chair, ASF Scientific Taskforce Committee, 2009-2010 Consortium Member, Florida Birth Defects Registry, 1998-2008

I was involved in the initial development of the Florida Birth Defects Registry (FBDR) and served as the major physician consultant for birth defects-related issues for the registry. I worked: collaboratively with the University of South Florida to pursue a variety of epidemiological studies


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and birth defects surveys. During the years of my involvement with the FBDR I monitored the state for patterns of birth defects and evaluated clusters of birth defects to determine whether such clustering was potentially related to teratogen exposures. Publications or presentations related to birth defects are summarized below. 1. Annual Report on Birth Defects in Florida: 1996, Florida Dept. of Health, Bureau of Environmental Epidemiology. Pp. 13-51, Section II-VIII, Summary of malformations. 2000. 2. Poynor DH, Lupkiewicz S, Sage SR, Carver VH, Kousseff BG, Lubs HA, Williams CA: Paternal exposures and the question of birth defects. J Fla Med Assoc. 84(5):323-6, 1997. 3. Harris, CM; Brown, CP; Frias, J; Resnick, M; Williams, C; Carter, R; Ariet, M; Mosley, B; Mardon, R; Hollis, AL; Correia, J, "Consortial Approach To The Establishment of A Statewide Birth Defects Registry", American Public Health Association Annual Meeting, Washington, D.C., November 17, 1998 4.Carter, R; Ariet, M; Mardon, R; Frías, J; Williams, C; Brown, P; Resnick M; Accuracy of Case Ascertainment from the Florida Birth Defects Registry Statewide Surveillance System. Annual Florida Epidemiology Meeting, Miami, Fl. July 28-30, 1999 5. Carter RL, Grove D, Ariet M, Mardon R, Brown P, Frias J, Williams C, Resnick MB. Accuracy of Case Ascertainment in Florida’s Birth Defects Registry. CDC Maternal and Child Health Epidemiology Conference, Atlanta, December, 2000. 6. Williams CA, Mardon RE, Grove D, Wharton P, Hauser KW, Frias JL: Treatment of oral facial clefts by state-affiliated craniofacial center and cleft palate clinics. Birth Defects Res Part A Clin Mol Teratol. 2003 Sep;67(9):643-6. 7. Hauser KW, Williams CA, Nelson RM Jr, Frias JL: The Influence of Prematurity and Intrauterine Growth on the Risk for Birth Defects. National Birth Defects Prevention Network 7th Annual Meeting, Salt Lake City, Jan 21-22, 2004 8. Williams CA, Hauser KW, Correia JA, Frias JL. Ascertainment of gastroschisis by using the ICD-9 CM surgical procedure code. Birth Defects Res A Clin Mol Teratol, 73(10):646-8, 2005 9. Williams CA, Hauser KW, Correia JA, Frias JL. Gastroschisis: associated malformations and clinical outcome in 92 consecutive birth cases. National Birth Defect Prevention Network, 8th annual meeting, January 24-26, 2005, Scottsdale, AZ. 10. Williams CA, Hauser KW, Correia JA, Beierle E, Maisenbacher MK. Small intestinal atresia , unlike gastroschisis, is not associated with decreased maternal age. National Birth Defect Prevention Network, 10th annual meeting, February 2-4, 2007, San Antonio TX.

UNIVERSITY GOVERNANCE AND SERVICE (continued) Consultant, Florida School for the Deaf and the Blind, 1998-2005, 2010-2016 Consultant, Jacksonville Center for Autism and Related Disabilities, 1999-2011 Consultant, Jacksonville FDLRS Program, Division of Developmental Pediatrics, UF Jacksonville, 2004-2011 Pediatric Champion, Early Hearing Detection and Intervention (EDHI) program, Florida, 2010-2014


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Member, Institutional Review Board, UF IRB01, 2012- 2016 Member, Pediatric Quality Assurance Committee, 2011-2013 GENETICS FELLOWS TRAINED: Roberto T. Zori, M.D. Sonja A. Rasmussen, M.D. Aditi I. Dagli, M.D. GRANTS/RESEARCH SUPPORT AWARDS: Hayward Foundation, Screening for 22q11.2 deletions in hypospadias disorders, P.I., $8,000, 1996-97 Hayward Foundation, Implementation of Fluorescent In Situ Hybridization Methods, P.I., $35,000, 10/93 Hayward Foundation, Study of 22q11 microdeletions in the velo-cardio-facial syndrome, P.I., $40,000, 7/94-7/96 Center for Autism (CARD), Jacksonville: Telomeric microdeletions in autism, $8,000, 1999 CMS contracts were under my directorship from 1990 –2000:

Regional Genetics Program, 1999-00 funding $273,000 Raymond C. Philips Research and Education Unit, 1999-00 funding $260,000 Teratogen Information Service, 1999-00 funding $68,000

Hayward Foundation, Educational Project Grant: Direct Testing for Genetic Causes of Mental Retardation, 2002-2003, $5,000. Hayward Foundation, Education Web-based Teaching and Data File Project, 2004-2006, $5,000 FDLRS grant for genetic evaluation/study of hearing loss, State of Florida, 2007-08, $38,500 FDLRS grant for hearing evaluation tool, State of Florida, 2008-09, $18,500 Center for Autism and Related Disabilities: $50,000, 2010-11, contract Genzyme Therapeutics Educational Grant: $35,200, 2010-11 Florida School for the Deaf and the Blind: $25,000/yr for consultant contract, 2011-2016

AWARDS: The Harry and Audrey Angelman Award for Meritorious Service (first recipient), Angelman Syndrome Foundation, USA 2001 Ralph Vick Memorial Award, 2003, Florida Chapter of the National Neurofibromatosis Foundation Canadian Angelman Syndrome Society, Appreciation Award, 2004 PUBLICATIONS: Books, Contributor of Chapter(s) 1. Williams CA: Glossary appendix. In: Reimer LD, Wagner JT (eds): The Hospital Handbook - a Practical Guide to Hospital Visitation. Wilton, CT: Morehouse-Barlowe, pp. 103-116, 1985 (2nd revised edition published in 1988). 2. Williams CA, Frias JL: Angelman Syndrome. In Birth Defects Encyclopedia (3rd edition of the Birth Defects Compendium), Cambridge, MA. Blackwell Scientific Publications, pp. 140-141, 1990. 3. Williams CA, Frias JL: Alstrom Syndrome. In Birth Defects Encyclopedia, (3rd edition of the Birth Defects Compendium), Cambridge, MA. Blackwell Scientific Publications, pp. 93-94, 1990.


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4. Zori RT and Williams CA: Angelman Syndrome. In: Encyclopedia of Neuroscience, 2nd Ed, Editions G. Adelman and B.H. Smith, Elsevier Science (www.elsevier.com) 1999. 5. Williams CA: Angelman Syndrome. In: Cassidy S, Allanson J (eds): Management of Genetic Syndromes. pp 33-47 Wiley-Liss, ISBN 0-471-31286-X, 2001. 6. Zori RT, Williams CA: Angelman syndrome. Encyclopedia of Neuroscience, Editors: G. Adelman and B. Smith, Elsevier Science-NL, Amsterdam, 1996. 7. Zori RT and Williams CA: Angelman Syndrome. In: Encyclopedia of Neuroscience, 2nd Ed, Editors G. Adelman and B.H. Smith, Elsevier Science (www.elsevier.com) 2001. 8. Williams CA: Angelman Syndrome. In: Cassidy S, Allanson J (eds): Management of Genetic Syndromes. 2nd Edition, Wiley-Liss, ISBN 0-471-31286-X, 2004. 9. Williams CA, Angelman Syndrome in Genetics of Developmental Disabilities, editors: Butler MG and Meaney FJ, Marcel Dekker, Inc., New York, 2005 10. Williams CA, Maisenbacher MK. Congenital defects and genetic disorders. In: Alexander R, ed. Child Fatality Review: An Interdisciplinary Guide and Photographic Reference. St. Louis, Mo: GW Medical Publishing; 2007 11. Williams CA, Introduction for Angelman Syndrome, by Bernard Dan, Clinics in Developmental Medicine No. 177, editor: Hart HM, Mac, Keithy Press, 30 Furnival St., London, EC4A 1jq, UK, 2008 12. Williams CA and Dagli A: Angelman Syndrome. In: Cassidy S, Allanson J (eds): Management of Genetic Syndromes. 3nd Edition, Wiley-Liss, 2010. 13. Dagli A, Williams CA. Genetic Testing in Neurological Disorders. In: Carney P and Geyer JD, eds. Pediatric Practice: Neurology, McGraw-Hill Professional, New York, NY, 2010, 248-259. New York, NY. 14. Williams CA. In Epstein’s Inborn Errors of Development, RP Erickson, A Wynshaw-Boris (eds.) Oxford University Press, New York (in press for 2016). 15. Mueller JM and Williams CA, Angelman syndrome, In Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 5th edition, Eds: Rosenberg RN and Pascual JM, Elsevier, 2015 16. Muller JM and Williams CA: Clinical Features, Medical Issues, and Diagnostic Testing in Angelman Syndrome; in eBook Angelman syndrome: Communication, Educational and Related Considerations. Editor: Calculator S, Bentham Science Publishers, http://www.benthamscience.com/ebooks, 2015, eISBN: 9781681081168 17. Williams CA and Mueller JM In: Carey J and Battaglia A (eds): Management of Genetic Syndromes. 4nd Edition, Wiley-Liss, 2020. 18. Mathews JM, Cook EM, Margolis S and Williams CA, Angelman syndrome, In Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease, 6th edition, Eds: Rosenberg RN and Pascual JM, Elsevier, 2020 .


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Monographs 1.Williams C. 2015 edition. Angelman syndrome. http://rarediseasesorg: National Organization for Rare Disorders (NORD). 2.Williams CA. 2012. Angelman Syndrome. http://rarediseases.org: National Organization for Rare Disorders (NORD). 3. Williams CA, Peters SU, Calculator SN: Facts about Angelman Syndrome. Information for Families, 6th edition, National Angelman Syndrome Foundation, electronic publication: (http://www.angelman.org/stay-informed/facts-about-angelman-syndrome---7th-edition/) 2009. 4. Williams CA, Wagstaff J: Facts about Angelman Syndrome. Information for Families, 6th edition, National Angelman Syndrome Foundation, electronic publication: (http://www.angelman.org) 2007. 5. Williams CA, Wagstaff J: Facts about Angelman Syndrome. Information for Families, 5th edition, National Angelman Syndrome Foundation, electronic publication: (http://www.angelman.org) 2006. 6. Williams CA, Wagstaff J: Facts about Angelman Syndrome. Information for Families, 4th edition, National Angelman Syndrome Foundation, electronic publication: (http://www.angelman.org) 2005. 7. Williams CA: Angelman Syndrome: 2003. OrSA: Italian Angelman Syndrome Organization (http://www.sindromediangelman.org/), 2003. 8 Williams CA, Wagstaff J: Facts about Angelman Syndrome. Information for Families., 3rd edition, National Angelman Syndrome Foundation, electronic publication: (www.Angelman.org) 2002. 9. Williams CA. Genetic Counseling in Angelman Syndrome. Proceedings of the International Congress on Angelman Syndrome. Editors: Smith A, Clayton-Smith J., International Angelman Syndrome Organization (IASO), 2000. 10. Williams CA. Angelman syndrome. Proceedings of the International Congress on Angelman Syndrome. Eds. Smith A and Clayton-Smith J, International Angelman Syndrome Organization (IASO), 2000. 11. Williams CA: Facts about Angelman Syndrome. Information for Families, second edition, National Angelman Syndrome Foundation, 1996. 12. Williams CA, Hendrickson J, Whidden E, Buehler B: Facts about Angelman Syndrome, first edition, Raymond Phillips Research and Education Unit, 1991. 13. Williams CA: Medical Care of the Mentally Retarded: A Resource Manual for Physicians, Developmental Services Program Office, Department of Health and Rehabilitative Services, Florida, 1984. Web Design and Development Williams C, web master: Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, Gainesville, 2008-2015


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Web Audio/video Productions: Williams C, Stalker H: D/G variant: Available online at: https://www.youtube.com/watch?v=Ye8RuOrZiLU 2008 Williams C: Biotinidase Screening; available online at: https://www.youtube.com/watch?v=QnAM6Kwm7r8; Biotinidase mutation testing; available online at https://www.youtube.com/watch?v=7nyagQI77Tk, 2008 Williams C, separate teaching modules on: Connexin 26 mutations; Genetic hearing loss syndrome, Pedigree analysis of hearing disorders; Physical examination; Pedigree analysis. 2008: Available on line at: https://genetics.pediatrics.med.ufl.edu/teaching-resources/ Williams C: Lysosomal storage diseases, separate teaching modules on Introduction to the cell and to the lysosome, development of the mature lysosome, Understanding glycolipids, Fabry disease, Tay-Sachs Disease, https://genetics.pediatrics.med.ufl.edu/teaching-resources/lysosomal-storage-disorders/ 2011 Other creative works Stickler Syndrome: Learning the Facts (interviewed in), Tina Hahn, Director; Symmetree Media, Toronto, Canada, 2006 CNN Television interview program on Angelman Syndrome, aired in US on 2/13/2006. Filmed in Rome Williams CA: Pediatric and Internal Medicine: Guide to General Healthcare in Angelman Syndrome. The Angelman Project (CD ROM) Louise Tiranoff Productions, Brooklyn, New York, 2002 Williams CA: Clinical Features and Clinical Diagnosis of Angelman Syndrome. The Angelman Project (CD ROM) Louise Tiranoff Productions, Brooklyn, New York, 2002 Hayward Foundation Teaching Site, https://genetics.pediatrics.med.ufl.edu/teaching-resources/, 2006- present. Refereed Publications 1. Williams CA, Frias JL: The Angelman ("happy puppet") syndrome. Am J Med Genet 11(4):453-469, 1981. 2. Frias JL, King GJ, Williams CA: Cephalometric assessment of selected malformation syndromes. Birth Defects - Original Article Series 18:139-150, 1982. 3. Williams CA, Weber FT, Cullen J, Kane M: Hepatitis B transmission in school contacts of retarded HBsAg carrier students. Journal of Pediatrics 103(2):192-196, 1983. 4. Williams CA, Tiefenbach S, McReynolds JW: Valproic acid-induced hyperammonemia in mentally retarded adults. Neurology 32(4):550-553, 1984.


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5. Williams CA, Netzloff M, Folkerts L, Vargas A, Garnica A, Frias JL: Vitamin D metabolism and anticonvulsant therapy: Effect of sunshine on incidence of osteomalacia. Southern Medical Journal 88:834-837, 1984. 6. Flint N, Lopez LM, Robinson JD, Williams CA, Salem RB: Comparison of eight phenytoin dosing methods in institutionalized patients. Ther Drug Monit 8(1):74-80, 1985. 7. Williams CA, Cantú ES, Frias JL: Metaphyseal dysostosis and congenital nystagmus in a male infant with the fragile X syndrome. Am J Med Genet 23 (1/2):207-211, 1986. 8. Williams CA, Weber FT, McKim MN, Steadham CI, Kane MA: Hepatitis B virus transmission in a public school: Effects of mentally retarded HBsAg carrier students. American Journal of Public Health 77:476-478, 1987. 9. Williams CA, Frias JL: Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux. Am J Med Genet 28:297-302, 1987. 10. LaFauce L, Ausbon W, Moffett M, Williams CA: The Florida Teratogen Information Service. Florida Medical Journal 24:319-324, 1988. 11. Williams CA, Hendrickson JE, Cantú ES, Donlon TA: Angelman syndrome in a daughter with del(15)(q11q13) associated with brachycephaly, hearing loss, enlarged foramen magnum and ataxia in the mother. Am J Med Genet 32:333-338, 1989. 12. Williams CA, Gray BA, Hendrickson JE, Stone JW, Cantú ES: Incidence of 15q deletions in the Angelman syndrome: A survey of 12 affected persons. Am J Med Genet 32:339-345, 1989. 13. Cantú ES, Gray B, Stone J, Williams CA: Fragile X syndrome and autism. American Journal on Mental Retardation 94:442-447, 1990. 14. Williams CA, Zori RT, Stone JW, Gray BA, Cantú ES, Ostrer H: Maternal origin of 15q11-q13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am J Med Genet 35:350-353, 1990. 15. Cantú ES, Ostrer H, Gray BA, Wing AA, Hendrickson JE, Marfatia LP, Richards DS, Kellner KR, Cruz AC, Ferrell E, Jackson LG, Williams CA: Establishment of a new chorionic villi cytogenetic testing service: The split specimen approach. Prenatal Diagnosis 10:137-139, 1990. 16. Zori R, Williams C, Mattei JF, Moncla A: Letter to the Editor: Parental origin of del(15)(q11-q13) in Angelman and Prader-Willi syndromes. Am J Med Genet 37:294, 1990. 17. Williams CA, Cantú ES, Frias JL, McCormick MK, Antonarakis SE: Clinical, cytogenetic and molecular evaluation of a patient with partial trisomy 21(21q11-q22) lacking the classical /Down syndrome phenotype. Am J Med Genet 7:110-114, 1990. 18. Zori RT, Schatz DA, Ostrer H, Williams CA, Riley WJ: The relationship of autoimmunity to thyroid dysfunction in children and adults with Down syndrome. Am J Med Genet 7:238-241, 1990. 19. Zori R, Williams C: Neonatal hemangiomatosis with hydrops fetalis and nuchal cystic hygroma. Dysmorphology and Clinical Genetics 4:138-140, 1990.


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20. Langer LO, Jr, Brill PW, Afshani E, Williams CA, Thomas IT, Frias JL: Radiographic features of craniometadiaphyseal dysplasia, wormian bone type. Skeletal Radiology 20:37-41, 1991. 21. Richards DS, Williams CA, Cruz AC, Hendrickson JE: Prenatal sonographic findings in a fetus with Proteus syndrome. Journal of Ultrasound Medicine 10:47, 1991. 22. Raskind W, Williams C, Bird T: Complete deletion of the Proteolipid Protein Gene (PLP) in a family with Pelizaeus-Merzbacher disease. Am J Hum Genet 49:1355-1360, 1991. 23. Zori RT, Hendrickson J, Woolven S, Stone J, Gray B, Williams CA: Angelman syndrome: clinical profile. Journal of Child Neurology 7:270-280, 1992. 24. Driscoll DJ, Water MF, Williams CA, Zori RT, Avidano KM, Nicholls RD: A DNA methylation imprint distinguishes the Angelman and Prader-Willi syndromes. Genomics 13:917-924, 1992. 25. Kumar A, Stalker H, Williams C: Concurrence of supravalvular aortic stenosis and peripheral pulmonary stenosis in three generations of a family: A form of arterial dysplasia. Am J Med Genet 45:739-742, 1993. 26. Penner KA, Johnston J, Faircloth BH, Irish P, Williams CA: Communication, cognition and social interaction in the Angelman syndrome. Am J Med Genet 46:34-39, 1993. 27. Leonard CM, Williams CA, Nicholls RD, Agee FO, Voeller KKS, Honeyman JC, Staab EV: Angelman and Prader-Willi syndrome: A magnetic resonance imaging study of differences in cerebral structure. Am J Med Genet 46:26-33, 1993. 28. Zackowski JL, Nicholls RD, Gray BA, Bent-Williams A, Gottlieb W, Harris PJ, Waters MF, Driscoll DJ, Zori RT, Williams, CA: Cytogenetics and molecular analysis in Angelman syndrome. Am J Med Genet 46:7-11, 1993. 29. Zori RT, Gray BA, Bent-Williams A, Driscoll DJ, Williams CA, Zackowski JL: Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies, Am J Med Genet 46:379-383, 1993. 30. Cunniff C, Curry CJR, Carey JC, Graham JM, Williams CA, Stengel-Rutkowski S, Lüttgen S, Meinecke P: Congenital diaphragmatic hernia in the Brachmann-de Lange syndrome. Am J Med Genet 47:1018-1021, 1993. 31. Wallace M, Zori RT, Alley T, Whidden E, Gray BA, Williams CA: Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable disruption of an SLOS gene. Am J Med Genet 50:368-374, 1994. 32. Kumar A, Williams CA, Victorica BE: Familial atrioventricular septal defect: Possible genetic mechanisms. British Heart Journal 71:79-81, 1994. 33. Zori, R. T., Stalker, H. J., Williams, C. A. A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails. Dysmorph. Clin. Genet. 6: 116-122, 1992.


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34. Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JHM, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, Zori RT: Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 56:237-238, 1995. 35. Alley TL, Gray BA, Lee S, Scherer SW, Tsui L-C, Tint S, Zori RT, Williams CA, Wallace MR: Identification of a yeast artificial chromosome clone spanning a translocation breakpoint at 7q32.1 in a Smith-Lemli-Opitz syndrome patient. Am J Hum Genet 56:1411-1416, 1995. 36. Sandler D, Mancuso A, Becker T, Zori RT, Hellrung J, Silverstein J, Burton V, Hamosh A, Williams CA: Association of anophthalmia and esophageal atresia. Am J Med Genet 59:484-491, 1995. 37. Colman SD, Williams CA, Wallace MR: Benign neurofibromas in type 1 neurofibromatosis (NF1) show somatic deletions of the NF1 gene. Nature Genetics 11:90-92, 1995. 38. Rasmussen SA, Williams CA, Ayoub Em, Sleasman JW, Gray BA, Bent-Williams A, Stalker HJ, Zori RT: Juvenile rheumatoid arthritis in the velo-cardio-facial-syndrome. Am J Med Genet, 64:546-550, 1996. 39. Saitoh S, Buiting K, Cassidy SB, Conroy JM, Driscoll DJ, Gabriel JM, Gillessen-Kaesbach G, Glenn CC, Greenswag LR, Horsthemke B, Kondo I, Kuwajima K, Niikawa N, Rogan P, Schwartz S, Seip J, Williams CA, Nicholls RD: Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am J Med Genet, 68:195-206, 1997. 40. Abernathy CR, Rasmussen SA, Stalker HJ, Zori RT, Driscoll DJ, Williams CA, Collins FS, Kousseff BG, Wallace MR: NF1 Mutation analysis using a combined heteroduplex/SSCP approach. Human Molecular Genetics, 9: 548-554, 1997. 41. Connerton-Moyer KJ, Nicholls RD, Schwartz S, Driscoll DJ, Hendrickson JE, Williams CA, Pauli RM: Unexpected familial recurrence in Angelman syndrome. Am J Med Genet, 70:253-260,1997. 42. Poynor DH, Lupkiewicz S, Sage SR, Carver VH, Kousseff BG, Lubs HA, Williams CA: Paternal exposures and the question of birth defects. J Fla Med Assoc. 84(5):323-6, 1997. 43. Hidalgo-Laos RI, Kekar A, Wiliams CA, Neiberger RE: A new point mutation in a hypoxanthine phosphoribosyltransferase-deficient patient. Ped Nephr 11(5), 645-8, 1997. 44. Krkljus S, Abernathy CR, Johnson J, Williams CA, Driscoll DJ, Zori R, Stalker H, Whidden E, Collins FS, Kousseff BG, Baumbach L, Wallace MR. Analysis of CpG C-to-T mutations in the NF1 gene. Hum Mutation, Mutation in brief no 129. Online. 11 (5), 411. 1997. 45. Zori RT, Boyar FZ, Williams WN, Gray BA, Bent-Williams A, Stalker HJ, Rimer LA, Nackashi JA, Driscoll DJ, Rasmussen SA, Dixon-Wood V, Williams CA: Prevalence of 22q11 region deletions in patients with velopharyngeal insufficiency. Am J Med Genet 77:8-11, 1998. 46. Stalker HJ and Williams CA: Genetic counseling in Angelman syndrome: The challenges of multiple causes. Am J Med Genet 77:54-59, 1998. 47. Arn PH, Williams CA, Zori RT, Driscoll DJ, Rosenblatt DS: Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic features of Angelman syndrome (AS). Am J Med Genet 77:198-200, 1998.


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48. Malzac P, Webber H, Monica A, Graham Jr JM, Kukolich M, Williams C, Pagon R, Ramsdell L, Kishino T, Wagstaff J: Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 62(6):1353-60, 1998. 49. Stalker HJ, Wagstaff J, Williams CA: Genetic counseling in Angelman syndrome: Gonadal mosaicism rears it head. Letter to editor, Am J Med Genet 78:482, 1998. 50. Foster M, Goodwin SR, Williams C, Loeffler J: Recurrent acute life threatening events and lactic acidosis caused by chronic carbon monoxide poisoning in an infant. Pediatrics, 104 (3):e34, 1999. 51. Zang J, Kumar A, Roux K, Williams CA, Wallace MR. Elastin deletions in Williams syndrome. Genet Test, 3(4): 357-9 1999. 52. Keller K, McCune, Williams C, Muenke M, Lobar holoprosencephaly in an infant born to a mother with classic phenylketonuria. Am J Med Genet, 95:187-188, 2000. 53. Cassidy SB, Dykens E, Williams CA. Prader-Willi and Angelman syndromes: Sister imprinted Disorders. In Seminars in Genetics, Am J Med Genet, 97:136-146, 2000 54. Williams CA, Lossie Amy, Driscoll D. Angelman Syndrome: mimicking conditions and phenotypes. Am J Med Genet, 101:59-64, 2001 55. Keller K, Williams C, Seagle B: Klinefelter syndrome and cutis verticis gyrata. Am J Med Genet, 103:249-251, 2001 56. Lossie AC, Whitney MM, Amidon D, Dong HG, Chen P, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ: Distinct phenotypes distinguish the molecular classes of Angelman syndrome. J Med Genet, 38:12, 834-845, 2001 57. Boyar FZ, Whitney MM, Lossie AC, Gary BA, Keller KL, Stalker HG, Zori RT, Geffken G, Mutch J, Edge PJ, Voeller KS, Williams CA, Driscoll DJ. A family with a grand-maternally derived interstitial duplication of proximal 15q. Clin Genet 60: 421-430, 2001 58. Keller K, Williams C, Wharton P, Paulk M, Bent-Williams A, Gray B, Ward A, Stalker H, Wallace M, Carter R, Zori R. Routine cytogenetic and FISH studies for 17p11/15q11 duplications and subtelomeric rearrangement studies in children with autism spectrum disorders. Am J Med genet; 117A(2): 105-11, 2003 59. Williams CA, Mardon RE, Grove D, Wharton P, Hauser KW, Frias JL: Treatment of oral facial clefts by state-affiliated craniofacial center and cleft palate clinics. Birth Defects Res Part A Clin Mol Teratol. 2003 Sep;67(9):643-6. 60. Howell VM, Zori RT, Stalker HJ, Williams C, Jesse N, Nelson AE, Robinson BG and Marsh DJ A molecular diagnosis of hyperparathyroidism-jaw tumor syndrome in an adolescent with recurrent kidney stones. J Pediatr 145(4), 567, 2004. 61. Williams CA . Neurological aspects of the Angelman syndrome. Brain Dev 27(2), 88-94, 2005 62. Williams CA, Wallace MR, Drury KC, Kipersztok S, Edwards RK, Williams RS, Haller MJ, Schatz DA, Silverstein JH, Gray BA, Zori RT: Blood lymphocyte chimerism associated with in vitro fertilization and monochorionic dizygous twinning. Hum Reprod 19(12), 2816-2821, 2005.


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63. Williams CA, Hauser KW, Correia JA, Frias JL. Ascertainment of gastroschisis by using the ICD-9 CM surgical procedure code. Birth Defects Res A Clin Mol Teratol, 73(10):646-8, 2005 64. Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet A, 140(5):413-8, 2006. 65. Friez MJ, Jones JR, Clarkson K, Lubs H, Abuelo D, Bier JA, Pai S, Simenson R, Williams C, Giampietro PR, Schwartz CE, Stevenson RE. Recurrent Infections, Hypotonia, and Mental Retardation Caused by Duplication of MECP2 and Adjacent Region in Xq28. Pediatrics 118(6):1687-95, 2006. 66. Shribert LD, Ballard KJ, Tomblin JB, Duffy JR, Odell KH, Williams CA. Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. J Speech Lang Hear Res. 49(3):500-25, 2006 67. Battaglia A, Filippi T, Pusceddu S, Williams CA. Filippi syndrome: further clinical characterization. Am J Med Genet A. 2008 Jul 15;146A(14):1848-52 68. Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008;121(2):404-10 69. Dagli AI, Stalker HJ, Williams CA. A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development: Case Report. Am J Med Genet A. 2008 Jan 15;146A(2):204-7 70. Tomblin JB, Bjork J, Ballard K, Shriberg L, Williams C, Anderson S, Patil Shivanand, O’Brien M, Murray J. Language features in a mother and daughter with a chromosome 7;13 translocation involving FOXP2. J Speech and Hearing Res 2009, 52(5):1157-74 71. Williams CA. Angelman Syndrome Scientific Symposium on the Structure and Function of UBE3A/E6AP, Cambridge, Massachusetts, July 30-31, 2009, Editor for Proceedings. J Child Neurol, 2009, 24:7, 904-08 72. Williams C, Franco L: Angelman Syndrome at the Synapse: Meeting Report of the Angelman Syndrome Foundation’s 2009 Scientific Symposium, J Child Neurol. 2010 Feb;25(2):254-61. 73. Gallione C, Aylsworth AS, Beis J, Berk T, Bernhardt B, Clark RD, Clericuzio C, Danesino C, Drautz J, Fahl J, Fan Z, Faughnan M, Ganguly A, Garvie J, Henderson K, Kini U, Leedom T, Ludman M, Maisenbacher M, Mazzucco S, Oliveri C, Prigoda-Lee N, Pyeritz RE, Reardon W, Vandezande K, Waldman JD, White, Williams CA, Marchuk D. Overlapping spectrum of SMAD4 mutations in Juvenile Polyposis (JP) and JP-HHT syndrome. Am J Med Genet, 2010 Feb;152A(2):333-9. 74. Williams SR, Mullegama SV, Rosenfeld JA, *Dagli AI, Hatchwell E, Allen WP, Williams CA, Elsea SH. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures. Eur J Hum Genet, 2010, 18(4):436-41.


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75. Williams CA, Driscoll DJ, Dagli AI. 2010. Clinical and genetic aspects of Angelman syndrome. Genet Med 12(7):385-95. 76. Lehalle D, Williams C, Siu VM, Clayton-Smith J. 2011. Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. Am J Med Genet A 155(7):1685-9. 77. Mueller JM, Dagli AI, Stalker HJ, Rahman N, Zori RT, Williams CA. 2011. Facial dysmorphism and digit anomalies in three siblings with severe developmental delay. Clin Dysmorphol 20(2):92-4. 78. Philpot BD, Thompson CE, Franco L, Williams CA. 2011. Angelman syndrome: advancing the research frontier of neurodevelopmental disorders. J Neurodev Disord 3(1):50-6. 79. Ramocki MB, Bartnik M, Szafranski P, Kolodziejska KE, Xia Z, Bravo J, Miller GS, Rodriguez DL, Williams CA, Bader PI, Szczepanik E, Mazurczak T, Antczak-Marach D, Coldwell JG, Akman CI, McAlmon K, Cohen MP, McGrath J, Roeder E, Mueller J, Kang SH, Bacino CA, Patel A, Bocian E, Shaw CA, Cheung SW, Stankiewicz P. 2010. Recurrent distal 7q11.23 deletion including HIP1 and YWHAG identified in patients with intellectual disabilities, epilepsy, and neurobehavioral problems. Am J Hum Genet 87(6):857-65. 80. Robitaille JM, Zheng B, Wallace K, Beis MJ, Tatlidil C, Yang J, Sheidow TG, Siebert L, Levin AV, Lam WC, Arthur BW, Lyons CJ, Jaakkola E, Tsilou E, Williams CA, Weaver RG, Jr., Shields CL, Guernsey DL. 2011. The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. Br J Ophthalmol 95(4):574-9. 81. Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., Abdel-Hamid, H., Bader, P., McCracken, E., Niyazov, D., Leppig, K., Thiese, H., Hummel, M., Alexander, N., Gorski, J., Kussmann, J., Shashi, V., Johnson, K., Rehder, C., Ballif, B. C., Shaffer, L. G., and Eichler, E. E., 2011. A copy number variation morbidity map of developmental delay. Nat Genet 43, 838-846. 82. Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., Chiang, C., Hanscom, C., Ernst, C., Lindgren, A. M., Morton, C. C., An, Y., Astbury, C., Brueton, L. A., Lichtenbelt, K. D., Ades, L. C., Fichera, M., Romano, C., Innis, J. W., Williams, C. A., Bartholomew, D., Van Allen, M. I., Parikh, A., Zhang, L., Wu, B. L., Pyatt, R. E., Schwartz, S., Shaffer, L. G., de Vries, B. B., Gusella, J. F., and Elsea, S. H., 2011. Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. Am J Hum Genet 89, 551-563. 83. Andrade A, Williams C. The importance of developing novel diagnostic tools for congenital metabolic disorders. J Ped Genet(3):149-151 (2012). 84. Dagli A, Buiting K, Williams CA. Molecular and Clinical Aspects of Angelman Syndrome. Mol Syndromol 2(3-5):100-112 (2012). 85. Schaaf CP, Boone PM, Sampath S, Williams C, Bader PI, Mueller JM, Shchelochkov OA, Brown CW, Crawford HP, Phalen JA, Tartaglia NR, Evans P, Campbell WM, Tsai AC, Parsley L, Grayson SW, Scheuerle A, Luzzi CD, Thomas SK, Eng PA, Kang SH, Patel A, Stankiewicz P, Cheung SW. Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions. Eur J Hum Genet 20(12):1240-7 (2012).


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86. Topiol ES, Minarich LA, Williams CA, Zori RT, Kays DW, Haller MJ. Neonatal diabetes mellitus and congenital diaphragmatic hernia: coincidence or concurrent etiology? Int J Pediatr Endocrinol 2012(1):21 (2012). 87. Hsu SC, Sears RL, Lemos RR, Quintans B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricic V, Fogel BL, Garcia-Estevez D, Goldman J, Goudreau JL, Hopfer S, Jankovic M, Jauma S, Jen JC, Kirdlarp S, Klepper J, Kostic V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novakovic I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics (2013) Feb;14(1):11-22. 88. Williams, C. A., and Battaglia, A., 2013 Molecular biology of epilepsy genes. Exp Neurol. 2013 Jun;244:51-8 89. Usrey KM, Williams CA, Dasouki M, Fairbrother LC, Butler MG. Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome? Case Reports in Genetics, Volume 2014, Article ID 127258, http://dx.doi.org/10.1155/2014/127258 90.Keeling B, Antia C, Steadmon M, Wesson S, Williams C. Dyskeratosis Congenita. dermatol Online J. 2014 Sep 16:20(9). 91. Tan WH, Bird LM, Thibert RL, Williams CA. 2014. If not Angelman, what is it? A review of Angelman-like syndromes. Am J Med Genet A 164A(4):975-92. 92. Williams CA, Merkel KL. 2014. A mimic of self-healing juvenile cutaneous mucinosis? Pediatr Dermatol 31(6):e140-4. 93. Nair S, Fort JA, Yachnis AT, Williams CA. 2015. Optic nerve pilomyxoid astrocytoma in a patient with Noonan syndrome. Pediatr Blood Cancer. 94. Mild Angelman syndrome phenotype due to a mosaic methylation imprinting defect. Fairbrother LC, Cytrynbaum C, Boutis P, Buiting K, Weksberg R, Williams C.Am J Med Genet A. 2015 Jul;167(7):1565-9. doi: 10.1002/ajmg.a.37058. Epub 2015 Apr 21.PMID: 25899869 95. Non-accidental Trauma Work-up: Unusual Retinal Finding Leads to a Rare Diagnosis. Schoeneberg LA, Aguiler A, Raub L, Williams CA, Gupta D. Pediatr Emerg Care. 2015 Nov 13. [Epub ahead of print] PMID: 26569076 96. Rojnueangnit K and others including Williams C, Messiaen L: High Incidence of Noonan Syndrome Features including short stature and Pulmonic Stenosis in patients carrying NF1 Missense Mutations affecting p.Arg1809: Genotype-Phenotype Correlation, Hum Mutat. 2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21


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97. May M, Hwang KS, Miles J, Williams C, Niranjan T, Kahler SG, Chiurazzi P, Steindl K, van der Spek PJ, Swagemakers S, Mueller J, Stefl S, Alexov E, Ryu JI, Choi JH, Kim HT, Tarpey P, Neri G, Holloway L, Skinner C, Stevenson RE, Dorsky RI, Wang T, Schwartz CE, Kim CH. ZC4H2, an XLID Gene, is Required for the Generation of a Specific Subset of CNS Interneurons. Hum Mol Genet (2015). 98. Goldenhar Syndrome Associated with Extensive Arterial Malformations. Modica RF, Barbeau LD, Co-Vu J, Beegle RD, Williams CA. Case Rep Pediatr. 2015;2015:954628. doi: 10.1155/2015/954628. Epub 2015 Nov 25. PMID: 26688769 99. Angelman syndrome - insights into a rare neurogenetic disorder. Buiting K, Williams C, Horsthemke B. Nat Rev Neurol. 2016 Oct;12(10):584-93. doi: 10.1038/nrneurol.2016.133. Review. 100. Like Father, Like Daughter—Inherited cutis aplasia occurring in a family with Marfan syndrome: A case report. Islam Y, Williams CA, Schoch JJ, Andrews ID., In press. Clinical Case Reports, 2016 Dec 20;5(1):66-68. doi: 10.1002/ccr3.750. eCollection 2017 101. Dagli AI, Mueller J, Williams CA.1998 Sep 15 [updated 2017 Dec 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.PMID: 20301323 https://pubmed.ncbi.nlm.nih.gov/20301323/ 102. Larson AA, Baker PR 2nd, Milev MP, Press CA, Sokol RJ, Cox MO, Lekostaj JK, Stence AA, Bossler AD, Mueller JM, Prematilake K, Tadjo TF, Williams CA, Sacher M, Moore SA TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy..Skelet Muscle. 2018 May 31;8(1):17. doi: 10.1186/s13395-018-0163-0.PMID: 29855340 103. Valente FM, Sparago A, Freschi A, Hill-Harfe K, Maas SM, Frints SGM, Alders M, Pignata L, Franzese M, Angelini C, Carli D, Mussa A, Gazzin A, Gabbarini F, Acurzio B, Ferrero GB, Bliek J, Williams CA, Riccio A, Cerrato F.Genet Med. Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith-Wiedemann locus 2019 Aug;21(8):1808-1820. doi: 10.1038/s41436-018-0416-7. Epub 2019 Jan 12.PMID: 3063562 Refereed Web Resource Publications 1. Williams CA, Lossie AC, Driscoll DJ: Angelman syndrome. Genline Medical Genetics Knowledge Base, University of Washington School of Medicine, Roberta A. Pagon, Editor-in-chief, Gene Clinics (URL:www.geneclinics.org) 1998-2000. 2. Williams CA, Lossie AC, Driscoll DJ: Angelman syndrome. Genline Medical Genetics Knowledge Base, University of Washington School of Medicine, Roberta A. Pagon, Editor-in-chief, Gene Clinics (URL:www.geneclinics.org) , 2001 edition. 3. Williams CA, Driscoll DJ. Angelman Syndrome. In: GeneReviews at Gene Tests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 2005 edition

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available at http://www.genetests.org 4. Williams CA, Dagli A, Driscoll DJ. Angelman Syndrome. In: GeneReviews at Gene Tests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 2008 edition available at http://www.genetests.org. In book form at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=angelman 5. Dagli AI, Williams CA.; Angelman Syndrome. Editors: Pagon RA, Bird TD, Dolan CR, Stephens K, GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 1998 Sep 15 [updated 2011 Jun 16] 6. Dagli AI, Mueller, JM, Williams CA. 1993. Angelman Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews(R). Seattle (WA). Update in press online for 2015 Reviews: 1. Doring PL, Davidson CL, LaFauce L, Williams CA: Effects of cocaine on the human fetus: A review of clinical studies. DICP, The Annals of Pharmacotherapy 23:639-645, 1989. 2. Williams CA, Zori RT, Hendrickson JE, Stalker H, Marum T, Whidden EM, Driscoll DJ: Angelman syndrome. Current Problems in Pediatrics 25(7): 216-231, 1995. 3. Williams CA, Dagli A, Battaglia A. Genetic disorders associated with macrocephaly. Am J Med Genet 146A(15):2023-37, 2008, review Non-refereed Publications 1. Williams C, Zori R: Response to the letter by Kenji Naritomi: On the genetic imprinting suggested in Angelman syndrome. Am J Med Genet 39:497, 1991. 2. Zori R, Williams C: Phenocopy versus genocopy. Am J Med Genet 40:248, 1991. 3. Hendrickson, J, Marfatia L, Kovak K, Magenis E, Williams C: Genetic counseling for Angelman syndrome when the proband has a cytogenetic or molecular deletion. In Proceedings of the International Conference on Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders (S. Cassidy, Ed.), NATO Advanced Studies Institutes Series, Springer-Verlag, Heidelberg, Vol. 61, pp 243-255, 1992. 4. Nicholls RD, Gottlieb W, Mascari MJ, Rinchik EM, Pai GS, Driscoll DJ, Butler MG, Neuman RE, Waters MF, Zackwoski JL, Hrosthemke B, Rogan PK, Ladd RL, Williams CA: Molecular analysis in Angelman syndrome. Prader-Willi syndrome and patential mou models. In Prodeedings of the International Conference on Prader-Willi Syndrome Other Chromosome 15q Deletion Disorders (S. Cassidy, ED.), NATO Advanced Studies Institutes Series, Springer-Verlag, Heidelberg, 61:41-51, 1992. 5. Zori R, Nicholls R, Driscoll DJ, Williams CA: Clinical findings in Angelman individuals without a molecular deletion or uniparental disomy. In Proceedings of the International Conference on Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders (S. Cassidy, Ed.), NATO Advanced Studies Institutes Series, Springer-Verlag, Heidelberg, Vol. 61, pp 237-242, 1992.


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6. Williams CA: Angelman syndrome. Genexus 6:7-8, 1994. 7. Annual Report on Birth Defects in Florida: 1996, Florida Dept. of Health, Bureau of Environmental Epidemiology. Pp. 13-51, Section II-VIII, Summary of malformations. 2000. 8. Williams CA. Physician ethics and genetic testing. ACMS: House Calls Magazine, pp 8-9, May/June, 2006. 9. Williams CA. Macrocephaly Syndromes. Raymond C. Philips Unit Newsletter, Vol XX No.1, 2009. Williams C and Battaglia A: Molecular Biology of Epilepsy Genes. Raymond C. Philips Unit Newsletter, Vol. XXIII No. 1; January, 2012 11. Williams CA: Angelman syndrome in the web-based Health Encyclopedia, A.D.A.M., Inc,; 9/23/2013. Abstracts 1. Thomas IT, Williams CA, Frias JL, Friedman WA: Magnetic resonance imaging in the assessment of medullary compression in achondroplasia. Pediatric Research 20(4):341A, 1985. 2. Williams CA, Ballinger W: Muscle biopsy in infants: Provision of genetics services. Clinical Genetics Conference, March of Dimes, Philadelphia, PA, 1986, Am J Med Genet 25(4):761-762, 1986. 3. Williams CA, Stone JW: The behavioral phenotype in Angelman syndrome, accepted for presentation at the Southern Society for Pediatric Research, January 1987, New Orleans, LA, Clinical Research 35(1): 61A, 1987. 4. Williams CA, Poppell TD, Brock LB, Low SB: Phenytoin-induced gingival hyperplasia: Effect of folic acid supplementation. Southern Society for Pediatric Research, January, 1987, New Orleans, LA. Clinical Research 35(1):61A, 1987. 5. Williams CA, Cantú ES: Brachycephaly and mild ataxia in a mother whose daughter had Angelman syndrome and del(15)(q12). European Society of Human Genetics, Neurogenetics symposium, Cardiff, Wales, June, 1988, Clinical Genetics 34:422, 1988. 6. Williams CA, Donlon TA, Gray BA, Stone JW, Hendrickson JE, Cantú ES: Incidence of 15q deletions in the Angelman syndrome: A survey of 14 affected persons. American Society of Human Genetics Annual Meeting, New Orleans, LA, October 17, 1988, American Journal of Human Genetics 43:A75, 1988. 7. Williams CA, Condron CJ, Thomas IT, Frias JL, Brill PM, Langer LO: A new syndrome of craniotubular dysplasia having diaphyseal and metaphyseal modeling defects and increased susceptibility to fractures. March of Dimes Birth Defects Meeting, Baltimore, MD, July 10, 1988, Am J Med Genet 34:89, 1989. 8. Frias JL, Williams CA, Rasmussen SA, Sears Leonardo V, Thomas IT: Pseudoachondroplasia in two half-sibs born to normal parents. David W. Smith Workshop on Malformations and Morphogenesis, Oakland, CA, August 30, 1988, Proceedings of the Greenwood Genetic Center 8:190, 1989.


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9. Curry CJR, Chopra D, Carey JC, Johnston K, Williams C: Diaphragmatic hernia and split hand deformity: Two new associations in the Brachmann-De Lange syndrome. Western Society of Pediatric Research Meeting, Carmel, CA, 1988, Clinical Research 37:195A, 1989. 10. Zori RT, Hendrickson J, Woolven S, Williams CA: Angelman syndrome: Further characterization of the clinical phenotype and natural history. Abstract, ASHG Meeting, October 1990. American Journal of Human Genetics 47:A85, 1990. 11. Langer LO, Brill PW, Thomas IT, Williams CA, Frias JL: Craniometadiaphyseal dysplasia, wormian bone type. A previously undelineated craniotubular bone dysplasia with mulitple factures. XI Annual David W. Smith Workshop on Morphogenesis and Malformations, Lexington, KY, August 4-8, 1990. Proceedings of the Greenwood Genetic Center 10:86, 1991. 12. Driscoll DJ, Waters MF, Gottlieb W, Williams CA, Zori R, Nicholls RD: Differences in DNA methylation in the Angelman and Prader-Willi syndromes. 8th International Congress of Human Genetics, Washington, DC, USA, October 1991, American Journal of Human Genetics 49(suppl.4):394, 1991. 13. Raskind W, Williams C, Bird T: Complete deletion of the PLP gene in a family with Pelizaeus Merzbacher disease. 8th International Congress of Human Genetics, Washington, DC, October 1991. American Journal of Human Genetics 49(suppl.4):201, 1991. 14. Riconda D, Cullen M, Williams C: Prenatal diagnosis of Oto-Palatal-Digital syndrome, type II: the diagnostic problem of a bone dysplasia associated with multiple malformations. 8th International Congress of Human Genetics, Washington, DC, October 1991. American Journal of Human Genetics 49(suppl.4):176, 1991. 15. Williams C, Zori R, Nicholls R, Hendrickson J, Driscoll DJ: Angelman syndrome patients with and without 15q11-13 deletions have similar phenotypes suggesting little or no genetic heterogeneity outside region 15q11-13. 8th International Congress of Human Genetics, Washington, DC, October 1991. American Journal of Human Genetics 49(suppl.4):207, 1991. 16. Zackowski JL, Nicholls RD, Gray BA, Bent-Williams A, Harris PJ, Williams CA: Cytogenetic and molecular analysis in Angelman syndrome. 8th International Congress of Human Genetics, Washington, DC, October 1991. American Journal of Human Genetics 49(suppl.4):280, 1991. 17. Zori R, Williams CA: Ruvalcaba-Myhre-Smith syndrome: Nosology and inheritance pattern revisited. 8th International Congress of Human Genetics, Washington, DC, October 1991. American Journal of Human Genetics 49(suppl.4):172, 1991. 18. Zori R, Nicholls R, Driscoll DJ, Williams CA: Clinical findings in Angelman individuals without a molecular deletion or uniparental disomy. International Conference on Prader-Willi Syndrome and other Chromosome 15q Deletion Disorders, De Leewenhorst Congress Center, Noordwijkerhout, the Netherlands, May 1991, Journal of Medical Genetics 42:249, 1992. 19. Driscoll DJ, Waters MF, Glenn CG, Williams CA, Zori RT, Avidano KM, Nicholls RD: A DNA methylation imprint distinguishes the Angelman and Prader-Willi syndromes. Presented at the Society for Pediatric Research Meeting, Baltimore, MD, May 1992. Pediatric Research (suppl.4):132A, 1992.


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20. Waters MF, Nicholls RD, Glenn CC, Jong MTC, Surti U, Williams CA, Whidden EM, Driscoll DJ: Expression studies of a gene showing a DNA methylation imprint located in the critical region of the Angelman and Prader-Willi syndromes. American Journal of Human Genetics 51:A231, 1992. 21. Wallace MR, Abernathy CR, Williams CA, Driscoll DJ, Kousseff BG: Neurofibromatosis type 1 analysis. American Journal of Human Genetics 51:A231, 1992. 22. Zori R, Stalker HJ, Williams CA: Familial megaloencephaly, early developmental delay and short stature, pectus abnormalities and dysplastic nails: A new syndrome. 42nd Annual American Society of Human Genetics Meeting, San Francisco, CA, November 1992. American Journal of Human Genetics 51:A429, 1992. 23. Driscoll DJ, Porter KA, Glenn CC, Williams CA, Zori R, Whidden E, Gottlieb W, Filbrandt M, Bowers L, Gray B, Nicholls RD: Molecular, clinical and cytogenetics studies of the Angelman and Prader-Willi syndromes. American Society of Human Genetics, New Orleans, LA, October 1993. 24. Colman S, Abernathy C, Ho V, Kamath R, Kousseff B, Williams C, Driscoll DJ, Zori R, Collins F, Wallace MR: Heteroduplex detection and RNA analysis of NF1 mutations. American Society of Human Genetics, New Orleans, LA, October 1993. American Journal of Human Genetics 53(suppl.):1145, 1993. 25. Alley TL, Gray BA, Lee S, Zhang J, Zori RT, Williams CA, Scherer S, Tsui L-C, Wallace MR: Localization of a translocation breakpoint involved in Smith-Lemli-Opitz syndrome. American Journal of Human Genetics 55(suppl):A253, 1994. 26. Becker TA, Zori R, Williams CA: Genetic counseling considerations in clinical anophthalmia. American Journal of Human Genetics 55(suppl):A140, 1994. 27. Kumar A, Williams CA, Zhang J, Stalker HJ, Wallace MR: Familial primary restrictive cardiomyopathy: Clinical observations in a large kindred. American Journal of Human Genetics 55(suppl):A85, 1994. 28. Stalker HJ, Driscoll DJ, Zori R, Hendrickson JE, Williams CA: Genetic counseling in Angelman syndrome: The importance of molecular and clinical judgement in determination of recurrence risk. American Journal of Human Genetics 55(suppl.):A85, 1994. 29. Whidden EM, Kubilis P, Marum T, Driscoll DJ, Zori R, Williams CA: Growth in individuals with Angelman syndrome. American Journal of Human Genetics 55(suppl.):A96, 1994. 30. Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JMH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, Zori R: Angelman syndrome: Consensus for Diagnostic Criteria. American Journal of Human Genetics 55(suppl.):A96, 1994. 31. Kumar A, Williams CA, Wallace MR: Studies of the elastic gene in Williams syndrome and supravalvular aortic stenosis. Pediatric Research 35:37A, 1994. 32. Zori RT, Sandler DL, Mancuso AA, Becker TA, Williams CA: The association of anophthalmia, esophageal atresia, tracheoesophageal fistula and midbrain anomalies. XV David W. Smith Workshop on Malformations and Morphogenesis, Tampa, Florida, August 4-9, 1994. Greenwood Proceedings, 1995.


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33. Zori RT, Rasmussen SA, Ayoub EM, Gray BA, Bent-Williams A, Stalker JH,Williams CA: Juvenile rheumatoid arthritis (JRA) in two individuals with Velo-Cardio-Facial syndrome. Am J Hum Genet, 57(suppl) A106, 1995. 34. Driscoll DJ, Filbrandt M, Glenn CC, Gray BA, Blaydes SM, Nicholls RD, Whideden WE, Zori RT, Williams CA. Distribution of genotypic classs in Angelman syndrome. Am J Hum Genet, 57(suppl) A232, 1995. 35. Rasmussen SA, Colman SD, Ho VT,Williams CA, Driscoll DJ, Arn PH, Abernathy CR, Wallace MR. Screening for large NF1 gene deletions using loss-of-heterozygosity of intragenic markers. Am J Hum Genet 57(suppl) A334, 1995. 36. Arn PH, Williams CA, Zori RT, Driscoll DJ, Rosenblatt DS: Methylene tetrahydrofolate reductase (MTHFR) deficiency in a patient with phenotypic features of Angelman syndrome (AS). Am J Hum Genet, 59 (suppl) A86, 1996. 37. Williams CA, Rasmussen SA, Whidden E, Alley T, Wallace MR, McCune H, Stalker HJ, Batta AK, Tint GS. Screening for Smith-Lemli-Opitz syndrome in developmental institutions. Am J Hum Genet 59(suppl) A108, 1996. 38. Zori RT, Boyar FZ, Gray BA, Stalker HJ, Rimer LA, Driscoll DJ, Rasmussen SA, Nackashi JA, Williams WN, Williams CA. Palatal defects as mild phenotypic expression of 22q11.2 region microdeletion. Am J Hum Genet, 59(suppl) A138, 1996. 39. Stalker HJ, Rimer LA, Williams CA, Bent-Williams A, Gray BA, Zori RT. Genetic counseling in 22q11.2 deletions:Potential pitfalls. Am J Hum Genet, 59(suppl) A171, 1996. 40. Deng GY, Filbrandt MM, Zori RT, Williams CA, Gary TA, Gabriel JM, Nicholls RD, Driscoll DJ: Analysis of candidates for a major gene in Prader-Willi syndrome. Fourth Joint Clinical Genetics Meeting, March 10, Boca Raton, American College of Medical Genetics. 41. Stalker HJ, Ahmad A, Williams CA, Dietz H, Zori RT: Autosomal recessive syndrome of craniosynostosis, marfanoid habitus, and developmental delay not linked to Fibrillin-1: A new syndrome? Am J Hum Genet: 61(4): A114, 1997. 42. Lossie AC, Boyar FZ, Filbrandt MM, Zori RT, Williams CA, Driscoll DJ: Analysis of UBE3A in classical and atypical Angelman patients, Am J Hum Genet: 61(4): A314, 1997. 43. Zhang J, Meng X, Lu SJ, Williams CA, Keating MT, Wallace MR: A large deletion of the elastin gene region in a family with SVAS. Am J Hum Genet A125, 63(4), 1998. 44. Boyar FZ, Lossie AC, Filbrandt MM, Gray BA, Keller KL, Stalker HJ, Zori RT, Williams CA, Driscoll DJ: A family with a maternally derived interstitial duplication of proximal 15q. Am J Hum Genet A128, 63(4), 1998. 45. Lossie AC, Sage BT, Boyar FZ, Filbrandt MM, Nicholls RD, Zori RT, Williams CA, Driscoll DJ: Mutation Analysis of UBE3A in Classical Angelman Syndrome Patients. Am J Hum Genet A334, 63(4), 1998.


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46. Harris, CM; Brown, CP; Frias, J; Resnick, M; Williams, C; Carter, R; Ariet, M; Mosley, B; Mardon, R; Hollis, AL; Correia, J, "Consortial Approach To The Establishment of A Statewide Birth Defects Registry", American Public Health Association Annual Meeting, Washington, D.C., November 17, 1998 47.Carter, R; Ariet, M; Mardon, R; Frías, J; Williams, C; Brown, P; Resnick M; Accuracy of Case Ascertainment From the Florida Birth Defects Registry Statewide Surveillance System. Annual Florida Epidemiology Meeting, Miami, Fl. July 28-30, 1999 48. Williams CA, Lossie A, Driscoll DJ. Angelman Syndrome: Mimicking Phenotypes and Conditions. International Neurogenetics Workshop, May, 2000, Pisa, Italy. 49. Williams CA, Ward AD, Stalker HG, Keller KL, Walker RD, Gray BA, Zori RT. Normal 22q11.2 studies in patients referred for hypospadias. Poster. Annual Clinical Genetic Meeting, American College of Medical Genetics, Miami, FL, March 1-3, 2001. 50. Williams CA, Keller KL, Wharton PW, Paulk MF, Gray BA, Zori RT. Duplication 17p12 involving the Smith-Magenis Region, was not detected in an autism population. Poster. Annual Clinical Genetic Meeting, American College of Medical Genetics, Miami, FL, March 1-3, 2001. 51.Lossie AC, Whitney M, Amidon D, Theriaque D, Hutson A, Nicholls RD, Zori RT, Williams CA, Driscoll DJ. The 5 Classes of Angelman Syndrome: Genotype/Phenotype Correlations. Am J Hum Genet: 67(4), A351, 2000. 52. Carter RL, Grove D, Ariet M, Mardon R, Brown P, Frias J, Williams C, Resnick MB. Accuracy of Case Ascertainment in Florida’s Birth Defects Registry. CDC Maternal and Child Health Epidemiology Conference, Atlanta, December, 2000. 53. Lilly CM, Hauser KW, Jarhsdorfer C, Williams CA, Frias JL. Provider Knowledge and Clinical Practice Related to the Use of Folic Acid (FA) in the Prevention of Neural Tube Defects (NTD). America College of Preventive Medicine Meeting, Miami, February 2001. 54. Hauser KW, Lilly CM, Williams CA, Frias JL: Health care providers knowledge of folic acid supplementation for the prevention of neural tube defects. Presented in part, Academic Pediatric Societies Meeting, Baltimore MD, May, 2001. 55. Zori RT, Gray B, Keller K, Wharton P, Bent-Williams A, Ward A, Stalker H, Paulk M, Williams CA. Cytogenetics studies including FISH for 15q11.2/17p12 duplication and subtelomeric rearrangement in children with autistic spectrum disorder. Am J Hum Genet 69(4); 334, 2001 56. Lossie AC, Whitney MM, Amidon D, Hutson A. Therique D, Zori RT, Nicholls RD, Williams CA., and Driscoll DJ: Genotype/phenotype correlations among the 5 molecular classes of Angelman Syndrome. Am. J. Hum. Genet. (Suppl.), 2000. 57. Lossie, AC, Whitney MM, Zori RT, Nicholls RD, Williams CA. and Driscoll DJ: Prader-Willi syndrome and the role of the paternal-only expressed genes 15q11-q13: Possible insights from the Angelman syndrome. 15th Annual Prader-Willi Syndrome Association (USA) Scientific Conference, Pittsburgh, PA, July 2000. 58. Williams CA, Mardon R, Grove D, Hauser KW, Frias JL. Treatment Patterns of Orofacial Clefts by State-affiliated Craniofacial Centers (CFC) and Cleft Palate Clinics (CP) (poster award). National Birth Defects Prevention Meeting. Orlando, FL, January 14, 2002.


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59. Williams CA, Mardon R, Grove D, Hauser KW, Frias JL. Treatment Patterns of Orofacial Clefts by State-affiliated Craniofacial Centers (CFC) and Cleft Palate Clinics (CP) (poster and presentation). Florida Cleft Palate-Craniofacial Society, Winter Conference, West Palm Beach, January 20, 2002.

60. Williams CA: Angelman Syndrome: Clinical presentations, diagnostic criteria and neurogenetic aspects. Sixth Annual Meeting of the Infantile Seizure Society of Japan, March 15-16, 2003, Tokyo, 61. Williams CA: Angelman Syndrome: Further understanding of the clinical presentation and developmental aspects. Presented at the ASF/IASO International meeting, Washington D.C, July 1-5, 2003. 62. Hauser KW, Williams CA, Nelson RM Jr, Frias JL: The Influence of Prematurity and Intrauterine Growth on the Risk for Birth Defects. National Birth Defects Prevention Network 7th Annual Meeting, Salt Lake City, Jan 21-22, 2004 63. Williams CA, Zori RT, Gray BA, Stalker HJ: The flip side of the coin: duplications of the Velo-Cardio-Facial syndrome critical region. The Florida Cleft Palate-Craniofacial Association 2004 Winter Symposium and Annual Membership Meeting, January 16-18, 2004 64. Williams CA, Wallace MR, Drury KC, Kipersztok S, Edwards RK, Williams RS, Haller MJ, Schatz DA, Silverstein JH, Gray BA, Zori RT: Blood lymphocyte chimerism associated with in vitro fertilization and monochorionic dizygous twinning. (poster) Am. Society of Human Genetics Meeting, October 26-30, Toronto, 2004 65. Stalker H, Zori R, Gray B, Bent-Williams A, Dolwick F, Williams C: High cognitive functioning in Pallister-Killian syndrome. 2004 American Society of Human Genetics Annual Meeting, October 26-30, Toronto 66. Williams C, Recognizable genetic syndromes in children evaluated for pervasive developmental disorder. 16th World Congress of the International Association for Child and Adolescent Psychiatry and Allied Professions. Berlin, August 22-26, 2004. 67. Williams CA, Hauser KW, Correia JA, Frias JL. Gastroschisis: associated malformations and clinical outcome in 92 consecutive birth cases. National Birth Defect Prevention Network, 8th annual meeting, January 24-26, 2005, Scottsdale, AZ. 68. Williams CA, Hauser KW, Correia JA, Beierle E, Maisenbacher MK. Small intestinal atresia , unlike gastroschisis, is not associated with decreased maternal age. National Birth Defect Prevention Network, 10th annual meeting, February 2-4, 2007, San Antonio TX. 69. Dagli AI, Stalker HJ, Williams CA. A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development: Case Report. Presented at annual meeting, American Society of Human Genetics, October 17, 2007, San Diego, CA. Available at http://www.ashg.org/genetics/ashg06s/index.shtml 70. Defant JA, Stalker HJ, Williams CA, Wynn NJL, Dagli AI, Zori RT. A Case of Goltz Syndrome Presenting with a Vascular Type Amniotic Band Sequence Phenotype. American Society of Human Genetics, November 11-15, 2008, Philadelphia, PA. Abstract is available at http://www.ashg.org/2008meeting/abstracts/fulltext/


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71. Microdeletion in region 2q23.1 in a child with features suggestive of the Angelman syndrome. Charles A. Williams, Aditi I. Dagli, Stephen R. Williams, Jill A. Rosenfeld4, Sarah H. Elsea, XI Biennial Angelman Syndrome Foundation Scientific Symposium, USA, July 28-August1, 2009, Orlando, Florida. 72. Revisiting the De Barsy syndrome: demonstration of a homozygous PYCR1 mutation in an adult. CA Williams, Stalker HJ, Nightingale M, Macgillivray C, Guernsey DL, Samuels ME. 2010 American College of Medical Genetics Annual Clinical Genetics Meeting, Albuquerue, NM, March 24-28. 73. Phenotype-genotype association in autosomal dominant familial exudative vitreoretinopathy (FEVR) and retinopathy of prematurity (ROP) caused by FZD4 mutations. JM Robitaille, B Zheng, K Wallace, A Ells, O DaSilva, T Sheidow, L Siebert, A Allen, M Vincer, C Shields, A levin, B Arthur, C Lyons, E Jaakkola, E Tsilou, C Williams, RG Weaver Jr, A Ingram, J Beis, D Guernsey. Canadian Ophthalmological Society, 2010 Annual Meeting, Québec City http://www.eyesite.ca/annualmeeting/2010/program/COS2010AbstractBook.pdf 74. Screening the FZD4 gene in familial exodative vitreoretinopathy (FEVR), FEVR-like conditions and retinopathy of prematyrity (ROP). JM Robitaille, B Zheng, K Wallace, A Ells, O DaSilva, T Sheidow, L Siebert, A Allen, M Vincer, C Shields, A levin, B Arthur, C Lyons, E Jaakkola, E Tsilou, C Williams, RG Weaver Jr, A Ingram, J Beis, D Guernsey. Canadian Ophthalmological Society, 2010 Annual Meeting, Québec City http://www.eyesite.ca/annualmeeting/2010/program/COS2010AbstractBook.pdf 75. A family with an OPA1 mutation and associated hearing loss: Williams C, Stalker H., Schimpf-Linzenbold S, Wissinger B. Am. Soc. Human Genetics Meeting, San Francisco, Nov 4-7, 2012 Academic Presentations (2000 onward)

a. International

Nina Foundation, Angelman Syndrome International Scientific Conference, “Reseach on Human Clinical Trials in AS” Erasmus University Medical Center, Rotterdam, Oct 5-6, 2012 (invited) Canadian Angelman Syndrome Society, Biannual meeting, “Therapeutic Strategies in Angelman Syndrome”, Kananaski, Alberta, July 27, 2012 (invited) Canadian Angelman Syndrome Society, Biannual meeting, “Research Update on Angelman Syndrome”, Montreal, July 23, 2010 (invited) XI Congresso Nazionale, Organizzazine Sindrome Di Angelman, October 9, Trevi, Italy, 2010 “Angelman syndrome” (invited, keynote) Germany Angelman Syndrome Organization Meeting, Angelman syndrome: update on research and on medical concerns, June 19, 2010, Gehrden, Germany (invited, keynote)

9th CASS International Conference, Angelman syndrome, Whistler, BC, July 24, 2008, “Adult Health Care Issues in Angelman Syndrome” (invited, keynote) XI Congresso Nazionale, Organizzazine Sindrome Di Angelman, October 13-15, Trevi, Italy, 2006 “Angelman syndrome and mimicking conditions” (invited, keynote)


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Canadian Angelman Syndrome Society, Biannual meeting, July 22, 2004, “Neurological aspects of Angelman syndrome” (invited) Second World Conference and U.S. ASF meeting on Angelman Syndrome, Washington, D.C, July 2-5, 2003 “History of Angelman syndrome and future scientific development” (invited keynote) Sixth Annual Meeting of the Infantile Seizure Society, Japan. Tokyo Women’s Medical University, March 15-16, 2003, Tokyo, Japan. “Neurological aspects of Angelman syndrome” (invited) National Congress, OrSA (Italian Angelman Syndrome Organization), Trevi, Italy, November 8-10, 2002. “Angelman syndrome”, (invited, keynote) First World Conference of the International Angelman Syndrome Organization, July 4-8, 2001, Angelman syndrome and its genetics” Tampere, Finland (invited, keynote) International Neurogenetics Workshop, Stella Maris Research Institute, University of Pisa, May, 2000, Pisa, Italy “Angelman syndrome” (invited)

b. National

XII Biennial Angelman Syndrome Foundation Conference and Scientific Symposium, USA, July 26-30, 2011, Orlando, Florida. “Scientific update on AS” Keynote address. (invited) XI Biennial Angelman Syndrome Foundation Conference and Scientific Symposium, USA, July 28-August1, 2009, Orlando, Florida. “Angelman Treatment And Research Institute” Keynote address. (invited)

XI Biennial Angelman Syndrome Foundation Conference and Scientific Symposium, USA, July 28-August1, 2009, Orlando, Florida. “Adult Health Care Issues and Controversies” (invited) Microdeletion in region 2q23.1 in a child with features suggestive of the Angelman syndrome. Charles A. Williams, Aditi I. Dagli, Stephen R. Williams, Jill A. Rosenfeld4, Sarah H. Elsea, XI Biennial Angelman Syndrome Foundation Scientific Symposium, USA, July 28-August1, 2009, Orlando, Florida. (not invited) Williams CA, Hauser KW, Correia JA, Beierle E, Maisenbacher MK. Small intestinal atresia, unlike gastroschisis, is not associated with decreased maternal age. National Birth Defect Prevention Network, 10th annual meeting, February 2 -4, 2007, San Antonio TX (not invited) Dagli AI, Stalker HJ, Williams CA. A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor development: Case Report . Presented at annual meeting, American Society of Human Genetics, October 17, 2007, San Diego, CA. (not invited) Available at http://www.ashg.org/genetics/ashg06s/index.shtml Defant JA, Stalker HJ, Williams CA, Wynn NJL, Dagli AI, Zori RT. A Case of Goltz Syndrome Presenting with a Vascular Type Amniotic Band Sequence Phenotype. American Society of Human Genetics, November 11-15, 2008, Philadelphia, PA (not invited) Abstract is available at http://www.ashg.org/2008meeting/abstracts/fulltext/


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Tenth Biennial Angelman Syndrome Foundation Conference and Scientific Symposium, USA, 7-/25, 2007, St. Louis, MO. “Adult Health Issues in Angelman Syndrome” (invited) US Stickler Syndrome Annual meeting. “Clinical features and genetics of Stickler Syndrome” Orlando July 9, 2005 (invited) Ninth Biennial Conference, Angelman Syndrome Foundation, USA, 6/29-7/2, Anaheim, California, 2005. “Clinical and genetic aspects of Angelman syndrome: 101” (invited)

c. National Scientific Conferences Organized

2010 Scientific Symposium, Angelman Syndrome Foundation, Chapel Hill, NC, June 15-16, “The Neuroscience of UBE3A from Genes to Behavior.” Organizer and co-chair (invited)

2009 Scientific Symposium, Angelman Syndrome Foundation, Orlando, Florida July 28-29, “Angelman Syndrome at the Synapse” Organizer and co-chair (invited) 2008 Scientific Symposium, Angelman Syndrome Foundation, Cambridge, MA, July 30-31 “Structure and Function of UBE3A” Organizer and co-chair (invited)

d. Regional, State, Local and Medical Center Presentations, Lectures, etc.:

Not listed here

charles a. williams, m.d. · 8/3/2020 · charles a. williams, m.d. 1 . updated august 3, 2020 ....

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