John M. Graham Jr, MD, ScD

Director, Dysmorphology Program

Director, Clinical Genetics and Dysmorphology
Phone:(310) 423-9909
Fax:(310) 423-9890

Institute Affiliation

Medical Genetics Research Institute

Academic Appointments

Professor, Pediatrics

Awards and Activities

Elected to Delta Omega, Honorary Public Health Society1994
Award for Excellence in Education1993

Research Focus

Research is concentrated into several areas of dysmorphology and clinical genetics. Particularly interested in environmental causes for human birth defects, and major areas of research involves the impact of late gestational constraint in causing deformations that affect the limbs and head. Another major area of research involves finding genes for genetic mental retardation syndromes. A third area of research involves finding genes for conditions that result in recognizable patterns of human malformation. Research is focused on delineation the clinical and behavioral features of such syndromes and on trying to understand how different changes in the genes causing these syndromes might affect individual patients.

Research Contributions

Written the only textbook for recognizable patterns of human deformation, which contains the results of my previous research in this area. Helped to delineate fetal alcohol syndrome and maternal hyperthermia effects as causes for developmental disability, and helped to delineate the clinical features of Kabucki syndrome, Macrocephaly-Capillary Malformation syndrome, Diaphanospondylodysostosis, and Dolichospondylic Dysplasia. Helped to establish GLI3 as the cause for Pallister-Hall syndrome, UBE3A as a caude for Angelman syndrome, MED12 as a cause for FG syndrome, PHF6 as a cause for Borjeson-Forssman-Lehman syndrome, CSB and XPD as causes for COFS syndrome, RAB3GAP as a cause of MICRO syndrome, CHD7 as a cause for CHARGE syndrome, ZFHX1B as a cause for Mowat-Wilson syndrome, HLXB9 as a cause for Currarino syndrome, SALL4 as a cause for Okihiro syndrome, FLNB as a cause for Larsen syndrome and Atelosteogenesis Types 1 and 3, and CDMP-1 as a cause for Brachydactyly C, helped to delineate the cognitive effects in Klinefelter syndrome and also helped to establish deletions of 15q11.2 as causes for Prader-Willi and Angelmen syndromes, as well as delineating the clinical features of deletions of 22q11.2 and 22q13.3, and duplications of 16p11.2 and 12q24.3. These observations have been reported in multiple peer-reviewed journals and helped to advance the field of medical genetics and the care of patients with genetic syndromes.

Current investigations include:

Clinical delineation of disorders resulting from mutations in FLNB, MED12, duplication of PTPN11, deletion 1q24.3, and deletion 1p36.3. Delineation of birth defects resulting from diabetic embyopathy. Discovering the cause for Macrocephaly-Capillary Malformation Syndrome. Investigation of causes for non-syndromic cranioosynostosis.

Selected Publications

  1. Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG: Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2. Nat. Genet., 39(9): 1071-3, 2007
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