The Human Cytochrome P450 (CYP) Allele Nomenclature website: a peer-reviewed database of CYP variants and their associated effects

Por Sim, Sarah C, Ingelman-Sundberg, Magnus
Publicado em 2010

Intronic polymorphisms of cytochromes P450

Por Ingelman-Sundberg, Magnus, Sim, Sarah C
Publicado em 2010

Databases in the Area of Pharmacogenetics

Por Sim, Sarah C., Altman, Russ B., Ingelman-Sundberg, Magnus
Publicado em 2011

ARID1B-mediated disorders: Mutations and possible mechanisms

Por Sim, Joe C. H., White, Susan M, Lockhart, Paul J.
Publicado no Intractable Rare Dis Res (2015)

Assessing clarity and erasability of commercially available pens for surgical site marking: a comparative study in human volunteers

Por Sim, F. C. J., Angadi, D., Jarvis, G. E., Porteous, M.
Publicado no Patient Saf Surg (2016)

Decreased hippocampal volume and increased anxiety in a transgenic mouse model expressing the human CYP2C19 gene

Por Persson, A, Sim, S C, Virding, S, Onishchenko, N, Schulte, G, Ingelman-Sundberg, M
Publicado em 2014

Population structure and genetic differentiation associated with breeding history and selection in tomato (Solanum lycopersicum L.)

Por Sim, S-C, Robbins, M D, Deynze, A Van, Michel, A P, Francis, D M
Publicado em 2011

Complement activation by phospholipids: the interplay of factor H and C1q

Por Tan, Lee Aun, Yu, Bingbin, Sim, Francis C. J., Kishore, Uday, Sim, Robert B.
Publicado no Protein Cell (2010)

Perirenal fat stranding on CT: is there an association with bladder outlet obstruction?

Por Han, Na Y, Sung, Deuk J, Kim, Min J, Park, Beom J, Sim, Ki C, Cho, Sung B
Publicado no Br J Radiol (2016)

Association of a missense mutation in the bovine leptin gene with carcass fat content and leptin mRNA levels

Por Buchanan, Fiona C, Fitzsimmons, Carolyn J, Van Kessel, Andrew G, Thue, Tracey D, Winkelman-Sim, Dianne C, Schmutz, Sheila M
Publicado em 2002

The CYP2C19 Intron 2 Branch Point SNP is the Ancestral Polymorphism Contributing to the Poor Metabolizer Phenotype in Livers with CYP2C19*35 and CYP2C19*2 Alleles

Por Chaudhry, Amarjit S., Prasad, Bhagwat, Shirasaka, Yoshiyuki, Fohner, Alison, Finkelstein, David, Fan, Yiping, Wang, Shuoguo, Wu, Gang, Aklillu, Eleni, Sim, Sarah C., Thummel, Kenneth E., Schuetz, Erin G.
Publicado no Drug Metab Dispos (2015)

Nomenclature for alleles of the cytochrome P450 oxidoreductase gene

Por Sim, Sarah C., Miller, Walter L., Zhong, Xiao-Bo, Arlt, Wiebke, Ogata, Tsutomu, Ding, Xinxin, Wolf, C. Roland, Flück, Christa E., Pandey, Amit V., Henderson, Colin J., Porter, Todd D., Daly, Ann K., Nebert, Daniel W., Ingelman-Sundberg, Magnus
Publicado em 2009

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

Por Marsh, Ashley P.L., Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M., Yiu, Eppie M., Sim, Joe C.H., Delatycki, Martin B., Amor, David J., McGillivray, George, Sherr, Elliott H., Bahlo, Melanie, Leventer, Richard J., Lockhart, Paul J.
Publicado no Neurol Genet (2015)

Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency

Por Sim, Joe C H, White, Susan M, Fitzpatrick, Elizabeth, Wilson, Gabrielle R, Gillies, Greta, Pope, Kate, Mountford, Hayley S, Torring, Pernille M, McKee, Shane, Vulto-van Silfhout, Anneke T, Jhangiani, Shalini N, Muzny, Donna M, Leventer, Richard J, Delatycki, Martin B, Amor, David J, Lockhart, Paul J
Publicado em 2014

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Por Lessel, Davor, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J, Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie, Sim, Joe C H, Smith, Katherine R, Oehler, Judith, Cabrera, Elisa, Freire, Raimundo, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J, Delatycki, Martin B, Barbi, Gotthold, von Ameln, Simon, Högel, Josef, Degoricija, Marina, Fertig, Regina, Burkhalter, Martin D, Hofmann, Kay, Thiele, Holger, Altmüller, Janine, Nürnberg, Gudrun, Nürnberg, Peter, Bahlo, Melanie, Martin, George M, Aalfs, Cora M, Oshima, Junko, Terzic, Janos, Amor, David J, Dikic, Ivan, Ramadan, Kristijan, Kubisch, Christian
Publicado no Nat Genet (2014)

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

Por Wilson, Gabrielle R., Sim, Joe C.H., McLean, Catriona, Giannandrea, Maila, Galea, Charles A., Riseley, Jessica R., Stephenson, Sarah E.M., Fitzpatrick, Elizabeth, Haas, Stefan A., Pope, Kate, Hogan, Kirk J., Gregg, Ronald G., Bromhead, Catherine J., Wargowski, David S., Lawrence, Christopher H., James, Paul A., Churchyard, Andrew, Gao, Yujing, Phelan, Dean G., Gillies, Greta, Salce, Nicholas, Stanford, Lynn, Marsh, Ashley P.L., Mignogna, Maria L., Hayflick, Susan J., Leventer, Richard J., Delatycki, Martin B., Mellick, George D., Kalscheuer, Vera M., D’Adamo, Patrizia, Bahlo, Melanie, Amor, David J., Lockhart, Paul J.
Publicado no Am J Hum Genet (2014)

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting

Por Kalman, Lisa V., Agúndez, José A.G., Appell, Malin Lindqvist, Black, John Logan, Bell, Gillian C., Boukouvala, Sotiria, Bruckner, Carsten, Bruford, Elspeth, Bruckner, Carsten, Caudle, Kelly, Coulthard, Sally, Daly, Ann K., Del Tredici, Andria L., den Dunnen, Johan T, Drozda, Katarzyna, Everts, Robin, Flockhart, David, Freimuth, Robert, Gaedigk, Andrea, Hachad, Houda, Hartshorne, Toinette, Ingelman-Sundberg, Magnus, Klein, Teri E., Lauschke, Volker M., Maglott, Donna R., McLeod, Howard L., McMillin, Gwendolyn A., Meyer, Urs A., Müller, Daniel J., Nickerson, Deborah A., Oetting, William S., Pacanowski, Michael, Pratt, Victoria M., Relling, Mary V., Roberts, Ali, Rubinstein, Wendy S., Sangkuhl, Katrin, Schwab, Matthias, Scott, Stuart A., Sim, Sarah C, Thirumaran, Ranjit K, Toji, Lorraine H., Tyndale, Rachel, van Schaik, Ron HN, Whirl-Carrillo, Michelle, Yeo, Kiang-Teck J, Zanger, Ulrich M.
Publicado no Clin Pharmacol Ther (2015)