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Identification of the CFTR p. Phe508Del founder mutation in the absence of a polythymidine 9T allele in a Hispanic patient.
Published in:
Clinical Genetics, 2013, v. 83, n. 6, p. 598, doi. 10.1111/cge.12012
By:
- Dharajiya, N;
- Chisholm, KM;
- Dietz, L;
- Sue Richards, C;
- Kharrazi, M;
- Schrijver, I
Publication type:
Article
Patients' ratings of genetic conditions validate a taxonomy to simplify decisions about preconception carrier screening via genome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 574, doi. 10.1002/ajmg.a.37477
By:
- Leo, Michael C.;
- McMullen, Carmit;
- Wilfond, Benjamin S.;
- Lynch, Frances L.;
- Reiss, Jacob A.;
- Gilmore, Marian J.;
- Himes, Patricia;
- Kauffman, Tia L.;
- Davis, James V.;
- Jarvik, Gail P.;
- Berg, Jonathan S.;
- Harding, Cary;
- Kennedy, Kathleen A.;
- Simpson, Dana Kostiner;
- Quigley, Denise I.;
- Richards, C. Sue;
- Rope, Alan F.;
- Goddard, Katrina A. B.
Publication type:
Article
Generating a taxonomy for genetic conditions relevant to reproductive planning.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 3, p. 565, doi. 10.1002/ajmg.a.37513
By:
- Korngiebel, Diane M.;
- McMullen, Carmit K.;
- Amendola, Laura M.;
- Berg, Jonathan S.;
- Davis, James V.;
- Gilmore, Marian J.;
- Harding, Cary O.;
- Himes, Patricia;
- Jarvik, Gail P.;
- Kauffman, Tia L.;
- Kennedy, Kathleen A.;
- Simpson, Dana Kostiner;
- Leo, Michael C.;
- Lynch, Frances L.;
- Quigley, Denise I.;
- Reiss, Jacob A.;
- Richards, C. Sue;
- Rope, Alan F.;
- Schneider, Jennifer L.;
- Goddard, Katrina A. B.
Publication type:
Article
Does <i>KRAS</i> Testing in Metastatic Colorectal Cancer Impact Overall Survival? A Comparative Effectiveness Study in a Population-Based Sample.
Published in:
PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0094977
By:
- Feigelson, Heather Spencer;
- Zeng, Chan;
- Pawloski, Pamala A.;
- Onitilo, Adedayo A.;
- Richards, C. Sue;
- Johnson, Monique A.;
- Kauffman, Tia L.;
- Webster, Jennifer;
- Nyirenda, Carsie;
- Alexander, Gwen L.;
- Hwang, Clara;
- Cross, Deanna;
- McCarty, Catherine A.;
- Davis, Robert L.;
- Schwarzkopf, Denise;
- Williams, Andrew E.;
- Honda, Stacey;
- Daida, Yihe;
- Kushi, Lawrence H.;
- Delate, Thomas
Publication type:
Article
Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma.
Published in:
1996
By:
- WOHLLK, NELSON;
- COTE, GILBERT J.;
- BUGALHO, MARIA M. J.;
- ORDONEZ, NELSON;
- EVANS, DOUGLAS B.;
- GOEPFERT, HELMUTH;
- KHORANA, SANGEETA;
- SCHULTZ, PAMELA;
- RICHARDS, C. SUE;
- GAGEL, ROBERT F.
Publication type:
journal article
Novel recruitment approaches and operational results for a statewide population Cohort for cancer research: The Healthy Oregon Project.
Published in:
Journal of Clinical & Translational Science, 2024, v. 8, n. 1, p. 1, doi. 10.1017/cts.2024.9
By:
- Zhenzhen Zhang;
- Shafer, Autumn;
- Johnson-Camacho, Katie;
- Adey, Andrew;
- Anur, Pavana;
- Brown, Kim A.;
- Conrad, Casey;
- Crist, Rachel;
- Farris, Paige E.;
- Harrington, Christina A.;
- Marriott, Lisa K.;
- Mitchell, Asia;
- O'Roak, Brian;
- Serrato, Vanessa;
- Richards, C. Sue;
- Spellman, Paul T.;
- Shannon, Jackilen
Publication type:
Article
Identification of female carriers for Duchenne and Becker muscular dystrophies using a FISH-based approach.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 4, p. 293, doi. 10.1038/sj.ejhg.5200450
By:
- Ligon, Azra H;
- Kashork, Catherine D;
- Richards, C Sue;
- Shaffer, Lisa G
Publication type:
Article
Epstein-Barr virus-associated leiomyosarcomas in liver transplantation recipients. Origin from either donor or recipient tissue.
Published in:
1995
By:
- Timmons, Charles F.;
- Brian Dawson, D.;
- Sue Richards, C.;
- Andrews, Walter S.;
- Katz, Julie A.;
- Timmons, C F;
- Dawson, D B;
- Richards, C S;
- Andrews, W S;
- Katz, J A
Publication type:
journal article
Reliability of KRAS mutation testing in metastatic colorectal cancer patients across five laboratories.
Published in:
BMC Research Notes, 2012, v. 5, n. 1, p. 196, doi. 10.1186/1756-0500-5-196
By:
- Feigelson, Heather Spencer;
- Goddart, Katrina AB;
- Johnson, Monique A;
- Funk, Kellyan C;
- Rahm, Alanna Kulchak;
- Kauffman, Tia L;
- Chitale, Dhananjay A;
- Marchand, Loic Le;
- Richards, C Sue
Publication type:
Article
A case for expanding carrier testing to include actionable X‐linked disorders.
Published in:
2018
By:
- Rope, Alan F.;
- Kauffman, Tia L.;
- Himes, Pat;
- Amendola, Laura M.;
- Punj, Sumit;
- Akkari, Yassmine;
- Potter, Amiee;
- Davis, James V.;
- Schneider, Jennifer L.;
- Reiss, Jacob A.;
- Gilmore, Mari J.;
- McMullen, Carmit K.;
- Nickerson, Deborah A.;
- Richards, C. Sue;
- Jarvik, Gail P.;
- Wilfond, Benjamin S.;
- Goddard, Katrina A. B.
Publication type:
Case Study
Missense variant in RBM10 associated with mild and non‐lethal form of TARP syndrome.
Published in:
Clinical Genetics, 2023, v. 104, n. 2, p. 269, doi. 10.1111/cge.14326
By:
- Potter, Amiee B.;
- O'Brien, Timothy D.;
- Kulkarni, Arpita;
- McCabe, Sarah;
- Matthews, Kathryn;
- Kovak, Karen;
- Rogers, Caleb;
- Richards, C. Sue;
- Moore, Stephen
Publication type:
Article
Genetic Test Evaluation: Information Needs of Clinicians, Policy Makers, and the Public.
Published in:
American Journal of Epidemiology, 2002, v. 156, n. 4, p. 311, doi. 10.1093/aje/kwf055
By:
- Burke, Wylie;
- Atkins, David;
- Gwinn, Marta;
- Guttmacher, Alan;
- Haddow, James;
- Lau, Joseph;
- Palomaki, Glenn;
- Press, Nancy;
- Richards, C. Sue;
- Wideroff, Louise;
- Wiesner, Georgia L.
Publication type:
Article
Attenuated Familial Adenomatous Polyposis: A Case Report With Mixed Features and Review of Genotype-Phenotype Correlation.
Published in:
Archives of Pathology & Laboratory Medicine, 2005, v. 129, n. 11, p. 1401, doi. 10.5858/2005-129-1401-afapac
By:
- Ionescu, Diana N.;
- Papachristou, Georgios;
- Schoen, Robert E.;
- Hedge, Madhuri;
- Richards, C. Sue;
- Monzon, Federico A.
Publication type:
Article
Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in the Ashkenazi Jewish population.
Published in:
Human Mutation, 1998, v. 11, p. S161, doi. 10.1002/humu.1380110154
By:
- Alford, Raye L.;
- Demarchi, Jean M.;
- Richards, C. Sue
Publication type:
Article
Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.
Published in:
Human Mutation, 1996, v. 8, n. 2, p. 116, doi. 10.1002/(SICI)1098-1004(1996)8:2<116::AID-HUMU3>3.0.CO;2-9
By:
- DeMarchi, Jean M.;
- Caskey, C. Thomas;
- Richards, C. Sue
Publication type:
Article
A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.
Published in:
Human Mutation, 1994, v. 4, n. 4, p. 281, doi. 10.1002/humu.1380040409
By:
- DeMarchi, Jean M.;
- Richards, C. Sue;
- Fenwick, Raymond G.;
- Pace, Robert;
- Beaudet, Arthur L.
Publication type:
Article

Found: 16