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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Zepeda-Mendoza, Cinthya J; Ibn-Salem, Jonas; Kammin, Tammy et al. (2017) Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements. Am J Hum Genet 101:206-217
Redin, Claire; Brand, Harrison; Collins, Ryan L et al. (2017) The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet 49:36-45
Dong, Zirui; Wang, Huilin; Chen, Haixiao et al. (2017) Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics. Genet Med :
Cretu Stancu, Mircea; van Roosmalen, Markus J; Renkens, Ivo et al. (2017) Mapping and phasing of structural variation in patient genomes using nanopore sequencing. Nat Commun 8:1326
Chen, Xiaoli; An, Yu; Gao, Yonghui et al. (2017) Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. Hum Mutat 38:378-389
Schilit, Samantha L P; Morton, Cynthia C (2017) 3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants. Hum Genet :
Xie, Hua; Li, Xiaoyan; Peng, Jiping et al. (2017) A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome. Sci Rep 7:44271
Loviglio, M N; Leleu, M; Männik, K et al. (2017) Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry 22:836-849
Lohmann, Katja; Redin, Claire; Tönnies, Holger et al. (2017) Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia. JAMA Neurol 74:806-812
Shaw, Natalie D; Brand, Harrison; Kupchinsky, Zachary A et al. (2017) SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet 49:238-248

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