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McKusick Nathans Institute of Genetic Medicine

WELCOME TO THE IGM AT JOHNS HOPKINS

Meet the IGM Director

Dave Valle, MD

Dave Valle, MD


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Publication Corner

»NEW« Thomas E. Sussan, Annan Yang, Fu Li, Michael C. Ostrowski & Roger H. Reeves Trisomy represses Apc-mediated tumours in mouse models of Down's syndrome Trisomy represses ApcMin-mediated tumours in mouse models of Down syndrome  Nature 451, 73-75 (3 January 2008) 

»NEW« David M. McGaughey, Ryan M. Vinton, Jimmy Huynh,Amr Al-Saif,1Michael A. Beer, and Andrew S. McCallion Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at phox2b. 12/2007 Genome Research 
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»NEW« Migeon BR, Pappas K, Stetten G, Trunca C, Jacobs PA. Haplotype patterns in cancer-related genes with long-range linkage disequilibrium: no evidence of association with breast cancer or positive selection. Eur J Hum Genet. 2007 Nov 14; [Epub ahead of print]

PNAS

Tan PL, Barr T, Inglis PN, Mitsuma N, Huang SM, Garcia-Gonzalez MA, Bradley BA, Coforio S, Albrecht PJ, Watnick T, Germino GG, Beales PL, Caterina MJ, Leroux MR, Rice FL, Katsanis N. Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function. Proc Natl Acad Sci U S A. 2007 Oct 24; [Epub ahead of print]

Grice, E.A. and McCallion, A.S.  Genomic dissection of RET signaling in human disease. Signal Transduction: A Systems Biology Approach. Pandey; 1st edition, (2007) Humana Press, New Jersey, In Press.

Gherman A, Chen PE, Teslovich TM, Stankiewicz P, Withers M, Kashuk CS, Chakravarti A, Lupski JR, Cutler DJ, Katsanis N.
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture.
PLOS Genetics

Gerdes JM, Liu Y, Zaghloul NA, Leitch CC, Lawson SS, Kato M, Beachy PA, Gerdes JM, Liu Y, Zaghloul NA, Leitch CC, Lawson SS, Kato M, Beachy PA, Beales PL, Demartino GN, Fisher S, Badano JL, Katsanis N.
Disruption of
the basal body compromises proteasomal function and perturbs intracellular Wnt response. Nature Genetics

Hoover-Fong JE, McGready J, Schulze KJ, Barnes H, Scott CI.
Weight for age charts for children with achondroplasia. Pubmed

Fisher, S., Grice, E.A., Vinton, R. M., Bessling, S. L., Urasaki, A., Kawakami, K. and McCallion, A.S.
Evaluating the biological relevance of putative enhancers in zebrafish using transposon-mediated transgenesis. Nature Protocols. 2007

Saadeh R, Lisi EC, Batista DA, McIntosh I, Hoover-Fong JE. Albinism and Developmental Delay: The Need to Test for 15q11-q13 Deletion. Pubmed; PDF

Gregg L. Semenza
Science Magazine, October 2007 
Life with Oxygen

Cain CC, Saul D, Attanasio L, Oehler E, Hamosh A, Blakemore K and Stetten G.
Microphthalmia with linear skin defects (MLS) syndrome evaluated by prenatal karyotyping, FISH and array comparative genomic hybridization. Prenat Diagnosis 2007.

Chang TC, Wentzel EA, Kent OA, Ramachandran K, Mullendore M, Lee KH, Feldmann G, Yamakuchi M, Ferlito M, Lowenstein CJ, Arking DE, Beer MA, Maitra A, and Mendell JT.  Mol Cell, PDF 6/2007. Transactivation of miR-34a by p53 broadly influences gene expression and promotes apoptosis. Read review

Xie J, Bessling SL, Cooper TK, Dietz HC, McCallion AS, Fisher S**. Genetics, Manipulating Mitotic Recombination in the Zebrafish Embryo Through RecQ
HelicasesPDF 6/2007

Dave Valle, MD Barton Childs, MD, PNAS, . The Human Disease Network. PDF 5/2007

Ada Hamosh, MD, MPH
New England Journal of Medicine,
 PDF 5/2007. An "Elegant" Idea proves its worth 25 Years Later, Read more

Josh Mendell, Common cancer gene p53 sends death order to tiny killer, Read more

Welcome Inside

Inside this site you will find information about the world renowned research, clinical and educational programs at the Institute of Genetic Medicine, Johns Hopkins University.

This site is updated regularly to provide you with accurate information about our members
,
their research interests and contact information


We take great pride in our clinical services and are constantly striving to make them the very best. If you are a patient and need
an appointment or 
information about a genetic disorder, we can help you.

We have outstanding predoctoral and postdoctoral 
training programs in medical and human genetics. 

The IGM is the home of the largest annotated database in medical genetics:

OMIM

Your feedback is important to us. Questions or concerns about the site can be directed to the webmaster.


IGM Collection 

©2007 Institute of Genetic Medicine
Johns Hopkins University, 
Baltimore MD 
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