McKusick Nathans Institute of Genetic Medicine

Dr. Victor A. McKusick

Laureate of the 2008 (24th) Japan Prize

Victor McKusick, MD
Victor A. McKusick

Commemorative Lectures

Photo Gallary Award Ceremony
April 2008

Meet Our Director

David Valle, MD

Our Publication Corner

»NEW« SNP-specific array-based allele-specific expression analysis
Hans T. Bjornsson, Thomas J. Albert, Christine M. Ladd-Acosta, Roland D. Green,Michael A. Rongione, Christina M. Middle, Rafael A. Irizarry, Karl W. Broman,and Andrew P. Feinberg. Genome Research, May 2008.

»NEW« 3q29 interstitial microduplication: A new syndrome in a three-generation family
Emily C. Lisi , Ada Hamosh , Kimberly F. Doheny, Elizabeth Squibb, Barbara Jackson, Rebecca Galczynski, George H. Thomas, Denise Batista. Am J Med Genet A. 2008 Feb 1 [Epub ahead of print]

»NEW«Mathivanan, S., Ahmed, M., 157 coauthors and Pandey, A. Human Proteinpedia enables sharing of human protein data. Nature Biotechnology. 26, 6-9.

»NEW«Christoforou, N.,* Miller, R.A.,* Hill, C.M., Jie, C.C., McCallion, A.S., and Gearhart. J.D. The characterization of ES-derived cardiac precursor cells demonstrates their multipotentiality and identifies novel cardiac genes. J. Clin. Invest. 2/2008

»NEW« Dan E. Arking, David J. Cutler, Camille W. Brune, Tanya M. Teslovich, Kristen West, Morna Ikeda, Alexis Rea, Moltu Guy, Shin Lin,Edwin H. Cook Jr., and Aravinda Chakravarti
A Common Genetic Variant in the Neurexin Superfamily Member CNTNAP2 Increases Familial Risk of Autism. AJHG 1/2008
Read more»»»

»NEW« J. Michael Collaco, Lori Vanscoy, Lindsay Bremer, Kathryn McDougal, Scott Blackman, Amanda Bowers, Kathleen Naughton, Jacky Jennings, Jonathan Ellen and G. R. Cutting
Interactions Between Secondhand Smoke and Genes That Affect Cystic Fibrosis Lung Disease. JAMA 1/2008
Read more»»»»

»NEW« Tina L. Cheng, MD, MPH, Ronald D. Cohn, MD
George J. Dover, MD
The Genetics Revolution and Primary Care Pediatrics JAMA 2008

»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 Apc^Min-mediated tumours in mouse models of Down syndrome Nature 451, 73-75 (3 January 2008)

David M. McGaughey, Ryan M. Vinton, Jimmy Huynh,Amr Al-Saif, Michael A. Beer, and Andrew S. McCallion
Metrics of sequence constraint overlook regulatory sequences in an exhaustive analysis at
phox2b. 12/2007Genome Research
Read More»»»»»

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]

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.

Welcome To The IGM

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.