The Administrative Core provides fundamental scientific and fiscal oversight of Projects 1-3 and of the Clinical Genetics Core in an overall effort for successful execution of the experimental plan. A major goal of this Core is to ensure that there is a robust subject recruitment plan and good communic'ation, both internally within DGAP and externally with collaborating investigators. To this end, it serves to assist in the coordination and workflow among the Projects and Cores. Various policy decisions ranging from case prioritization to changes in the experimental plan due to evolving technologies to issues of authorship on DGAP publications are under the purview of the Administrative Core. The Administrative Core is accountable for the annual reporting of progress in DGAP. The Administrative Core also functions to facilitate interaction with the Advisory Committee.

Public Health Relevance

The Developmental Genome Anatomy Project studies a group of patients underserved by the health care system: those with congenital abnormalities due to chromosome rearrangements. Our mission is to discover genes of importance in human development that are disrupted by these chromosomal rearrangements, genes that are difficult to identify by more traditional human genetic strategies, thereby opening investigation of the disorders that they cause.

National Institute of Health (NIH)
National Institute of General Medical Sciences (NIGMS)
Research Program Projects (P01)
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Special Emphasis Panel (ZRG1-GGG-G)
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Brigham and Women's Hospital
United States
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Anger, Gregory J; Crocker, Susan; McKenzie, Kyle et al. (2014) X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4. Am J Audiol 23:1-6
Ordulu, Zehra; Wong, Kristen E; Currall, Benjamin B et al. (2014) Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature. Am J Hum Genet 94:695-709
Hodge, J C; Mitchell, E; Pillalamarri, V et al. (2014) Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities. Mol Psychiatry 19:368-79
Sugathan, Aarathi; Biagioli, Marta; Golzio, Christelle et al. (2014) CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. Proc Natl Acad Sci U S A 111:E4468-77
Romeike, Bernd F M; Shen, Yiping; Nishimoto, Hiromi Koso et al. (2014) Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion. Clin Neuropathol 33:238-44
Gfrerer, Lisa; Shubinets, Valeriy; Hoyos, Tatiana et al. (2014) Functional analysis of SPECC1L in craniofacial development and oblique facial cleft pathogenesis. Plast Reconstr Surg 134:748-59
Talkowski, Michael E; Minikel, Eric Vallabh; Gusella, James F (2014) Autism spectrum disorder genetics: diverse genes with diverse clinical outcomes. Harv Rev Psychiatry 22:65-75
Chen, Xiaoli; Shen, Yiping; Zhang, Feng et al. (2013) Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet 92:375-86
Lindgren, Amelia M; Hoyos, Tatiana; Talkowski, Michael E et al. (2013) Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate. Hum Genet 132:537-52
Beunders, Gea; Voorhoeve, Els; Golzio, Christelle et al. (2013) Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. Am J Hum Genet 92:210-20

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