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Optical genome mapping with genome sequencing identifies subtelomeric Xq28 deletion and inserted 7p22.3 duplication in a male with multisystem developmental disorder.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 12, p. 1, doi. 10.1002/ajmg.a.63814
By:
- Rodriguez‐Gil, Jorge L.;
- Nagy, Peter L.;
- Francke, Uta
Publication type:
Article
Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-06112-y
By:
- Baxter, Laura L.;
- Watkins-Chow, Dawn E.;
- Johnson, Nicholas L.;
- Farhat, Nicole Y.;
- Platt, Frances M.;
- Dale, Ryan K.;
- Porter, Forbes D.;
- Pavan, William J.;
- Rodriguez-Gil, Jorge L.
Publication type:
Article
NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology.
Published in:
Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 12, doi. 10.3390/jcm9010012
By:
- Rodriguez-Gil, Jorge L.;
- Watkins-Chow, Dawn E.;
- Baxter, Laura L.;
- Yokoyama, Tadafumi;
- Zerfas, Patricia M.;
- Starost, Matthew F.;
- Gahl, William A.;
- Malicdan, May Christine V.;
- Porter, Forbes D.;
- Platt, Frances M.;
- Pavan, William J.
Publication type:
Article
Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women.
Published in:
Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-24327-x
By:
- Adedokun, Babatunde;
- Du, Zhaohui;
- Gao, Guimin;
- Ahearn, Thomas U.;
- Lunetta, Kathryn L.;
- Zirpoli, Gary;
- Figueroa, Jonine;
- John, Esther M.;
- Bernstein, Leslie;
- Zheng, Wei;
- Hu, Jennifer J.;
- Ziegler, Regina G.;
- Nyante, Sarah;
- Bandera, Elisa V.;
- Ingles, Sue A.;
- Press, Michael F.;
- Deming-Halverson, Sandra L.;
- Rodriguez-Gil, Jorge L.;
- Yao, Song;
- Ogundiran, Temidayo O.
Publication type:
Article
Hepatocellular carcinoma as a complication of Niemann‐Pick disease type C1.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3111, doi. 10.1002/ajmg.a.62382
By:
- Rodriguez‐Gil, Jorge L.;
- Bianconi, Simona E.;
- Farhat, Nicole;
- Kleiner, David E.;
- Nelson, Marie;
- Porter, Forbes D.
Publication type:
Article
A Genome-Wide Scan for Breast Cancer Risk Haplotypes among African American Women.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0057298
By:
- Song, Chi;
- Chen, Gary K.;
- Millikan, Robert C.;
- Ambrosone, Christine B.;
- John, Esther M.;
- Bernstein, Leslie;
- Zheng, Wei;
- Hu, Jennifer J.;
- Ziegler, Regina G.;
- Nyante, Sarah;
- Bandera, Elisa V.;
- Ingles, Sue A.;
- Press, Michael F.;
- Deming, Sandra L.;
- Rodriguez-Gil, Jorge L.;
- Chanock, Stephen J.;
- Wan, Peggy;
- Sheng, Xin;
- Pooler, Loreall C.;
- Van Den Berg, David J.
Publication type:
Article
Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann-Pick disease type C1 mice.
Published in:
Life Science Alliance, 2021, v. 4, n. 10, p. 1, doi. 10.26508/lsa.202101040
By:
- Davidson, Cristin D.;
- Gibson, Alana L.;
- Gu, Tansy;
- Baxter, Laura L.;
- Deverman, Benjamin E.;
- Beadle, Keith;
- Incao, Arturo A.;
- Rodriguez-Gil, Jorge L.;
- Fujiwara, Hideji;
- Xuntian Jiang;
- Chandler, Randy J.;
- Ory, Daniel S.;
- Gradinaru, Viviana;
- Venditti, Charles P.;
- Pavan, William J.
Publication type:
Article
Transcriptome of HPβCD-treated Niemann-Pick disease type C1 cells highlights GPNMB as a biomarker for therapeutics.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 24, p. 2456, doi. 10.1093/hmg/ddab194
By:
- Rodriguez-Gil, Jorge L.;
- Baxter, Laura L.;
- Watkins-Chow, Dawn E.;
- Johnson, Nicholas L.;
- Davidson, Cristin D.;
- Carlson, Steven R.;
- Incao, Arturo A.;
- Wallom, Kerri L.;
- Farhat, Nicole Y.;
- Platt, Frances M.;
- Dale, Ryan K.;
- Porter, Forbes D.;
- Pavan, William J.
Publication type:
Article
A comprehensive examination of breast cancer risk loci in African American women.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 20, p. 5518, doi. 10.1093/hmg/ddu252
By:
- Feng, Ye;
- Stram, Daniel O.;
- Rhie, Suhn Kyong;
- Millikan, Robert C.;
- Ambrosone, Christine B.;
- John, Esther M.;
- Bernstein, Leslie;
- Zheng, Wei;
- Olshan, Andrew F.;
- Hu, Jennifer J.;
- Ziegler, Regina G.;
- Nyante, Sarah;
- Bandera, Elisa V.;
- Ingles, Sue A.;
- Press, Michael F.;
- Deming, Sandra L.;
- Rodriguez-Gil, Jorge L.;
- Palmer, Julie R.;
- Olopade, Olufunmilayo I.;
- Huo, Dezheng
Publication type:
Article
Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 22, p. 4491, doi. 10.1093/hmg/ddr367
By:
- Chen, Fang;
- Chen, Gary K.;
- Millikan, Robert C.;
- John, Esther M.;
- Ambrosone, Christine B.;
- Bernstein, Leslie;
- Zheng, Wei;
- Hu, Jennifer J.;
- Ziegler, Regina G.;
- Deming, Sandra L.;
- Bandera, Elisa V.;
- Nyante, Sarah;
- Palmer, Julie R.;
- Rebbeck, Timothy R.;
- Ingles, Sue A.;
- Press, Michael F.;
- Rodriguez-Gil, Jorge L.;
- Chanock, Stephen J.;
- Le Marchand, Loïc;
- Kolonel, Laurence N.
Publication type:
Article
Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of Niemann-Pick Disease, Type C1.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4217, doi. 10.3390/ijms25084217
By:
- Farhat, Nicole Y.;
- Alexander, Derek;
- McKee, Kyli;
- Iben, James;
- Rodriguez-Gil, Jorge L.;
- Wassif, Christopher A.;
- Cawley, Niamh X.;
- Balch, William E.;
- Porter, Forbes D.
Publication type:
Article

Found: 11