Deletions and Duplications of Developmental Pathway Genes in 5q31 Contribute to Abnormal PhenotypesROSENFELD, Jill A; MILISA DRAUTZ, Joanne; LAMB, Allen N et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 8, pp 1906-1916, issn 1552-4825, 11 p.Article

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activityGORDILLO, Miriam; VEGA, Hugo; GIOVANNUCCI UZIELLI, Maria L et al.Human molecular genetics (Print). 2008, Vol 17, Num 14, pp 2172-2180, issn 0964-6906, 9 p.Article

Chromosome instability and tumor predisposition inversely correlate with BLM protein levelsMCDANIEL, Lisa D; CHESTER, Nicholas; WATSON, Mark et al.DNA repair. 2003, Vol 2, Num 12, pp 1387-1404, issn 1568-7864, 18 p.Article

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane proteinWHEELER, Ruth B; SHARP, Julie D; SCHULTZ, Roger A et al.American journal of human genetics. 2002, Vol 70, Num 2, pp 537-542, issn 0002-9297Article

The gene CDTF2T, encoding the human variant CstF-64 polyadenylation protein τCstF-64, lacks introns and may be associated with male sterilityDASS, Brinda; MCDANIEL, Lisa; SCHULTZ, Roger A et al.Genomics (San Diego, Calif.). 2002, Vol 80, Num 5, pp 509-514, issn 0888-7543, 6 p.Article

Cancer predisposition caused by elevated mitotic recombination in Bloom miceGUANGBIN LUO; SANTORO, Irma M; MCDANIEL, Lisa D et al.Nature genetics. 2000, Vol 26, Num 4, pp 424-429, issn 1061-4036Article

Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic miceTERESHCHENKO, Irina V; YANPING CHEN; MCDANIEL, Lisa D et al.DNA repair. 2010, Vol 9, Num 5, pp 551-557, issn 1568-7864, 7 p.Article

A novel XPC pathogenic variant detected in archival material from a patient diagnosed with xeroderma pigmentosum : A case report and review of the genetic variants reported in XPCRIUERA-BEGEMAN, Amanda; MCDANIEL, Lisa D; SCHULTZ, Roger A et al.DNA repair. 2007, Vol 6, Num 1, pp 100-114, issn 1568-7864, 15 p.Article

Bone marrow-derived cells contribute to contractile dysfunction in endotoxic shockBINCK, Brian W; TSEN, May F; ISLAS, Miguel et al.American journal of physiology. Heart and circulatory physiology. 2005, Vol 57, Num 2, pp H577-H583, issn 0363-6135Article

Mapping of a single locus capable of complementing the defective heterochromatin phenotype of roberts syndrome cellsMCDANIEL, Lisa D; TOMKINS, Darrell J; STANBRIDGE, Eric J et al.American journal of human genetics. 2005, Vol 77, Num 1, pp 132-139, issn 0002-9297, 8 p.Article

Estrogen excess associated with novel gain-of-function mutations affecting the aromatase geneSHOZU, Makio; SEBASTIAN, Siby; TAKAYAMA, Kazuto et al.The New England journal of medicine. 2003, Vol 348, Num 19, pp 1855-1865, issn 0028-4793, 11 p.Article

Genomic organization and mapping of the gene encoding the PP2A B56γ regulatory subunitMUNEER, Sabeeha; RAMALINGAM, Vivek; WYATT, Robert et al.Genomics (San Diego, Calif.). 2002, Vol 79, Num 3, pp 344-348, issn 0888-7543Article