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Common genetic variation associated with Mendelian disease severity revealed through cryptic phenotype analysis.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31030-y
By:
- Blair, David R.;
- Hoffmann, Thomas J.;
- Shieh, Joseph T.
Publication type:
Article
Emerging RAS superfamily conditions involving GTPase function.
Published in:
PLoS Genetics, 2019, v. 15, n. 2, p. 1, doi. 10.1371/journal.pgen.1007870
By:
- Shieh, Joseph T. C.
Publication type:
Article
X‐linked duplication copy number variation in a familial overgrowth condition.
Published in:
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 644, doi. 10.1002/ajmg.c.31756
By:
- Ha, Thoa K.;
- Mardy, Anne H.;
- Beleford, Daniah;
- Spanier, Andrew;
- Wayman, Brette V.;
- Penon‐Portmann, Monica;
- Wiita, Arun P.;
- Shieh, Joseph T.
Publication type:
Article
De novo heterozygous variants in SLC30A7 are a candidate cause for Joubert syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 8, p. 2360, doi. 10.1002/ajmg.a.62872
By:
- Penon‐Portmann, Monica;
- Eldomery, Mohammad K.;
- Potocki, Lorraine;
- Marafi, Dana;
- Posey, Jennifer E.;
- Coban‐Akdemir, Zeynep;
- Harel, Tamar;
- Grochowski, Christopher M.;
- Loucks, Hailey;
- Devine, Walter Patrick;
- Van Ziffle, Jessica;
- Doherty, Dan;
- Lupski, James R.;
- Shieh, Joseph T.
Publication type:
Article
Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys).
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1430, doi. 10.1002/ajmg.a.62126
By:
- Chenbhanich, Jirat;
- Hu, Yan;
- Hetts, Steven;
- Cooke, Daniel;
- Dowd, Christopher;
- Devine, Patrick;
- Russell, Bianca;
- Kang, Sung Hae L.;
- Chang, Vivian Y.;
- Abla, Adib A.;
- Cornett, Patricia;
- Yeh, Iwei;
- Lee, Hane;
- Martinez‐Agosto, Julian A.;
- Frieden, Ilona J.;
- Shieh, Joseph T.
Publication type:
Article
Genotype–phenotype correlation at codon 1740 of SETD2.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 9, p. 2037, doi. 10.1002/ajmg.a.61724
By:
- Rabin, Rachel;
- Radmanesh, Alireza;
- Glass, Ian A.;
- Dobyns, William B.;
- Aldinger, Kimberly A.;
- Shieh, Joseph T.;
- Romoser, Shelby;
- Bombei, Hannah;
- Dowsett, Leah;
- Trapane, Pamela;
- Bernat, John A.;
- Baker, Janice;
- Mendelsohn, Nancy J.;
- Popp, Bernt;
- Siekmeyer, Manuela;
- Sorge, Ina;
- Sansbury, Francis Hugh;
- Watts, Patrick;
- Foulds, Nicola C.;
- Burton, Jennifer
Publication type:
Article
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X‐linked trichothiodystrophy.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 513, doi. 10.1002/ajmg.a.61450
By:
- Mendelsohn, Bryce A.;
- Beleford, Daniah T.;
- Abu‐El‐Haija, Aya;
- Alsaleh, Norah S.;
- Rahbeeni, Zuhair;
- Martin, Pierre‐Marie;
- Rego, Shannon;
- Huang, Alyssa;
- Capodanno, Gina;
- Shieh, Joseph T.;
- Van Ziffle, Jessica;
- Risch, Neil;
- Alkuraya, Fowzan S.;
- Slavotinek, Anne M.
Publication type:
Article
Schimke immunoosseous dysplasia and management considerations for vascular risks.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1246, doi. 10.1002/ajmg.a.61148
By:
- Beleford, Daniah T.;
- Diab, Mohammad;
- Qubty, William F.;
- Malloy, Mary J.;
- Long, Roger K.;
- Shieh, Joseph T.
Publication type:
Article
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 966, doi. 10.1002/ajmg.a.61134
By:
- Kumar, Akash;
- Zastrow, Diane B.;
- Kravets, Elijah J.;
- Beleford, Daniah;
- Ruzhnikov, Maura R. Z.;
- Grove, Megan E.;
- Dries, Annika M.;
- Kohler, Jennefer N.;
- Waggott, Daryl M.;
- Yang, Yaping;
- Huang, Yong;
- Mackenzie, Katherine M.;
- Eng, Christine M.;
- Fisher, Paul G.;
- Ashley, Euan A.;
- Teng, Joyce M.;
- Stevenson, David A.;
- Shieh, Joseph T.;
- Wheeler, Matthew T.;
- Bernstein, Jonathan A.
Publication type:
Article
Response to Finsterer and Stöllberger 'Explanations for discordance of noncompaction in monozygotic twins'.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2495, doi. 10.1002/ajmg.a.37200
By:
- Shieh, Joseph T.
Publication type:
Article
Uveal Ganglioneuroma due to Germline PTEN Mutation (Cowden Syndrome) Presenting as Unilateral Infantile Glaucoma.
Published in:
Ocular Oncology & Pathology, 2017, v. 3, n. 2, p. 122, doi. 10.1159/000450552
By:
- DeParis, Sarah W.;
- Bloomer, Michele;
- Ying Han;
- Vagefi, M. Reza;
- Shieh, Joseph T. C.;
- Solomon, David A.;
- Grenert, James;
- de Alba Campomanes, Alejandra G.
Publication type:
Article
Case Report of Floating-Harbor Syndrome With Bilateral Cleft Lip.
Published in:
Cleft Palate Craniofacial Journal, 2020, v. 57, n. 1, p. 132, doi. 10.1177/1055665619858257
By:
- Ko, Jaemin;
- Pomerantz, Jason H.;
- Perry, Hazel;
- Shieh, Joseph T.;
- Slavotinek, Anne M.;
- Oberoi, Snehlata;
- Klein, Ophir D.
Publication type:
Article
Elevated miR-499 Levels Blunt the Cardiac Stress Response.
Published in:
PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0019481
By:
- Shieh, Joseph T. C.;
- Huang, Yu;
- Gilmore, Jacqueline;
- Srivastava, Deepak
Publication type:
Article
Somatic mosaicism in the MAPK pathway in sporadic brain arteriovenous malformation and association with phenotype.
Published in:
Journal of Neurosurgery, 2022, v. 136, n. 1, p. 148, doi. 10.3171/2020.11.JNS202031
By:
- Gao, Sen;
- Nelson, Jeffrey;
- Weinsheimer, Shantel;
- Winkler, Ethan A.;
- Rutledge, Caleb;
- Abla, Adib A.;
- Gupta, Nalin;
- Shieh, Joseph T.;
- Cooke, Daniel L.;
- Hetts, Steven W.;
- Tihan, Tarik;
- Hess, Christopher P.;
- Ko, Nerissa;
- Walcott, Brian P.;
- McCulloch, Charles E.;
- Lawton, Michael T.;
- Hua Su;
- Pawlikowska, Ludmila;
- Kim, Helen
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
Clinical and ultrastructural spectrum of diffuse lung disease associated with surfactant protein C mutations.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1033, doi. 10.1038/ejhg.2015.45
By:
- Peca, Donatella;
- Boldrini, Renata;
- Johannson, Jan;
- Shieh, Joseph T;
- Citti, Arianna;
- Petrini, Stefania;
- Salerno, Teresa;
- Cazzato, Salvatore;
- Testa, Raffaele;
- Messina, Francesco;
- Onofri, Alfredo;
- Cenacchi, Giovanna;
- Westermark, Per;
- Ullman, Nicola;
- Cogo, Paola;
- Cutrera, Renato;
- Danhaive, Olivier
Publication type:
Article
Copy Number Variation Analysis in 98 Individuals with PHACE Syndrome.
Published in:
Journal of Investigative Dermatology, 2013, v. 133, n. 3, p. 677, doi. 10.1038/jid.2012.367
By:
- Siegel, Dawn H;
- Shieh, Joseph T C;
- Kwon, Eun-kyung;
- Baselga, Eulalia;
- Blei, Francine;
- Cordisco, Maria;
- Dobyns, William B;
- Duffy, Kelly J;
- Garzon, Maria C;
- Gibbs, David L;
- Grimmer, Johannes F;
- Hayflick, Susan J;
- Krol, Alfons L;
- Kwok, Pui-Yan;
- Lorier, Rachel;
- Matter, Andrea;
- McWeeney, Shannon;
- Metry, Denise;
- Mitchell, Sheri;
- Pope, Elena
Publication type:
Article
Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.
Published in:
Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 722, doi. 10.1002/mgg3.405
By:
- Penon, Monica;
- Zahed, Hengameh;
- Berger, Victoria;
- Su, Irene;
- Shieh, Joseph T.
Publication type:
Article
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 7, p. 1068, doi. 10.1093/hmg/ddz231
By:
- Alankarage, Dimuthu;
- Szot, Justin O.;
- Pachter, Nick;
- Slavotinek, Anne;
- Selleri, Licia;
- Shieh, Joseph T.;
- Winlaw, David;
- Giannoulatou, Eleni;
- Chapman, Gavin;
- Dunwoodie, Sally L.
Publication type:
Article

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