K. S. Chen

发表

The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.

L. Shaffer, J. Lupski, G. L. Miklos, 1995, American journal of human genetics.

Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179.

J. Lupski, B. Bejjani, K. S. Chen, 1998, Genomics.

A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2).

J. Lupski, T. Friedman, S. Camper, 1999, Genomics.

Childhood adrenocortical carcinoma as a sentinel cancer for detecting families with germline TP53 mutations

H. Ariffin, Z. Latiff, K. S. Chen, 2012, Clinical genetics.

Genomic structure, evolution, and expression of human FLII, a gelsolin and leucine-rich-repeat family member: overlap with LLGL.

J. Lupski, C. Claudianos, H. Campbell, 1997, Genomics.

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.

L. Shaffer, J. Lupski, C. Kashork, 1999, American journal of human genetics.

Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.

J. Lupski, T. Barber, T. Friedman, 1998, American journal of human genetics.

Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.

B. Trask, G. van den Engh, J. Lupski, 1995, American journal of medical genetics.

Localization of the human nuclear receptor corepressor (hN-CoR) gene between the CMT1A and the SMS critical regions of chromosome 17p11.2.

J. Lupski, K. Horwitz, T. Nagaya, 1999, Genomics.

Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the smith-magenis syndrome critical region in 17p11.2.

J. Lupski, L. Potocki, K. S. Chen, 1999, Genomics.

Prenatal diagnosis of Charcot-Marie-Tooth disease type 1A.

L. Shaffer, J. Lupski, C. Kashork, 1999, Annals of the New York Academy of Sciences.