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TRAPPC9‐related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 4, p. 1077, doi. 10.1002/ajmg.a.63100
By:
- Penon‐Portmann, Monica;
- Hodoglugil, Ugur;
- Arun P, Wiita;
- Yip, Tiffany;
- Slavotinek, Anne;
- Tenney, Jessica L.
Publication type:
Article
<italic>NRP1</italic> haploinsufficiency predisposes to the development of Tetralogy of Fallot.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 649, doi. 10.1002/ajmg.a.38600
By:
- Duran, Ivan;
- Tenney, Jessica;
- Warren, Carmen M.;
- Sarukhanov, Anna;
- Csukasi, Fabiana;
- Skalansky, Mark;
- Iruela‐Arispe, Maria L.;
- Krakow, Deborah
Publication type:
Article
Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Article
Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Article
Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
2021
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Correction Notice
Application of full-genome analysis to diagnose rare monogenic disorders.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00241-5
By:
- Shieh, Joseph T.;
- Penon-Portmann, Monica;
- Wong, Karen H. Y.;
- Levy-Sakin, Michal;
- Verghese, Michelle;
- Slavotinek, Anne;
- Gallagher, Renata C.;
- Mendelsohn, Bryce A.;
- Tenney, Jessica;
- Beleford, Daniah;
- Perry, Hazel;
- Chow, Stephen K.;
- Sharo, Andrew G.;
- Brenner, Steven E.;
- Qi, Zhongxia;
- Yu, Jingwei;
- Klein, Ophir D.;
- Martin, David;
- Kwok, Pui-Yan;
- Boffelli, Dario
Publication type:
Article
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
Published in:
2016
By:
- Marques, Felipe;
- Tenney, Jessica;
- Duran, Ivan;
- Martin, Jorge;
- Nevarez, Lisette;
- Pogue, Robert;
- Krakow, Deborah;
- Cohn, Daniel H.;
- Li, Bing
Publication type:
Correction Notice
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis.
Published in:
PLoS Genetics, 2016, v. 12, n. 9, p. 1, doi. 10.1371/journal.pgen.1006307
By:
- Marques, Felipe;
- Tenney, Jessica;
- Duran, Ivan;
- Martin, Jorge;
- Nevarez, Lisette;
- Pogue, Robert;
- Krakow, Deborah;
- Cohn, Daniel H.;
- Li, Bing
Publication type:
Article

Found: 8