| Publications | DOI=10.5962/bhl.title.4090 Lewis Lemon Coriell, Arthur E. Greene; The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977. (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (1977) PubMed=6661932; DOI=10.1159/000131990 Margaret M. Aronson, Warren W. Nichols, Richard A. Mulivor, Arthur E. Greene, Lewis Lemon Coriell; Chromosome maps of cell lines with specific monosomic or trisomic portions of the genome in the NIGMS Human Genetic Mutant Cell Repository. Cytogenet. Cell Genet. 36:652-658(1983) CLPUB00447 Richard A. Mulivor, Sharon F. Suchy; 1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992. (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992) PubMed=9497252; DOI=10.1086/301755; PMCID=PMC1376949 Shlomit Gilad, Luciana Chessa, Rami Khosravi, Pamela Russell, Yaron Galanty, Maria Piane, Richard A. Gatti, Timothy J. Jorgensen, Yosef Shiloh, Anat Bar-Shira; Genotype-phenotype relationships in ataxia-telangiectasia and variants. Am. J. Hum. Genet. 62:551-561(1998) PubMed=12419185; DOI=10.1016/S0960-9822(02)01259-9 Junya Kobayashi, Hiroshi Tauchi, Shuichi Sakamoto, Asako Nakamura, Ken-ichi Morishima, Shinya Matsuura, Toshiko Kobayashi, Katsuyuki Tamai, Keiji Tanimoto, Kenshi Komatsu; NBS1 localizes to gamma-H2AX foci through interaction with the FHA/BRCT domain. Curr. Biol. 12:1846-1851(2002) PubMed=16260726; DOI=10.1073/pnas.0508390102; PMCID=PMC1283473 Sandra L. Harris, German Gil, Harlan Robins, Wen-Wei Hu, Kim Marie Hirshfield, Elisabeth Bond, Gareth Bond, Arnold Jay Levine; Detection of functional single-nucleotide polymorphisms that affect apoptosis. Proc. Natl. Acad. Sci. U.S.A. 102:16297-16302(2005) PubMed=18809580; DOI=10.1128/mcb.00781-08; PMCID=PMC2593387 Bruno M. Bernardes de Jesus, Magnar Bjoras, Frederic Coin, Jean-Marc Egly; Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC. Mol. Cell. Biol. 28:7225-7235(2008) PubMed=20889555; DOI=10.2353/jmoldx.2010.100090; PMCID=PMC2962854 Victoria M. Pratt, Barbara A. Zehnbauer, Jean Amos Wilson, Ruth Epstein-Baak, Nikolina Babic, Maria P. Bettinotti, Arlene M. Buller-Burckle, Kenneth G. Butz, Matthew Campbell, Chris Civalier, Abdalla El-Badry ...Show all 29 authors... , Daniel H. Farkas, Elaine Lyon, Saptarshi Mandal, Jason McKinney, Kasinathan Muralidharan, LeAnne Noll, Tara Sander, Junaid Shabbeer, Ching-Ying Huang Smith, Milhan Telatar, Lorraine H. Toji, Anand Vairavan, Carlos Vance, Karen E. Weck, Alan H.B. Wu, Kiang-Teck J. Yeo, Markus Zeller, Lisa V. Kalman; Show fewer authors Characterization of 107 genomic DNA reference materials for CYP2D6, CYP2C19, CYP2C9, VKORC1, and UGT1A1: a GeT-RM and Association for Molecular Pathology collaborative project. J. Mol. Diagn. 12:835-846(2010) PubMed=26651604; DOI=10.1016/j.stemcr.2015.11.004; PMCID=PMC4682343 Andrew J. Schwab, Allison D. Ebert; Neurite aggregation and calcium dysfunction in iPSC-derived sensory neurons with Parkinson's disease-related LRRK2 G2019S mutation. Stem Cell Reports 5:1039-1052(2015) PubMed=29959025; DOI=10.1016/j.jmoldx.2018.05.009; PMCID=PMC6939753 Maria P. Bettinotti, Deborah Ferriola, Jamie L. Duke, Timothy L. Mosbruger, Nikolaos Tairis, Lawrence Jennings, Lisa V. Kalman, Dimitrios S. Monos; Characterization of 108 genomic DNA reference materials for 11 human leukocyte antigen loci: a GeT-RM collaborative project. J. Mol. Diagn. 20:703-715(2018) |