Hung-Chun Yu - Dissemin

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All papers authored by Hung-Chun Yu

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2018 Julia di Iulio, Istvan Bartha, Emily H. M. Wong, Hung-Chun Yu

ORCID

, Victor Lavrenko, Dongchan Yang

ORCID

ORCID

, Michael A. Hicks

ORCID

, Naisha Shah, Ewen F. Kirkness, Martin M. Fabani, William H. Biggs, Bing Ren

ORCID

, J. Craig Venter, Amalio Telenti

The human noncoding genome defined by genetic diversity

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2017 Anita M. Quintana, Hung-Chun Yu

ORCID

, Alison Brebner, Mihaela Pupavac, Elizabeth A. Geiger, Abigail Watson, Victoria L. Castro, Warren Cheung, Shu-Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S. Rosenblatt, Tamim H. Shaikh

Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities

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2016 Hung-Chun Yu

ORCID

, Curtis R. Coughlin, Elizabeth A. Geiger, Blake J. Salvador, Ellen R. Elias, Jean L. Cavanaugh, Kathryn C. Chatfield, Shelley D. Miyamoto, Tamim H. Shaikh

Discovery of a potentially deleterious variant inTMEM87Bin a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy

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2014 Jonathan Saari, Mark A. Lovell, Hung-Chun Yu

ORCID

, Gary A. Bellus

Compound Heterozygosity for a Frame Shift Mutation and a Likely Pathogenic Sequence Variant in the Planar Cell Polarity-Ciliogenesis Gene WDPCP in a Girl With Polysyndactyly, Coarctation of the Aorta, and Tongue Hamartomas

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Pedro Gonzalez-Alegre, Jorge Di Paola, Kai Wang, Shay Fabbro, Hung-Chun Yu

ORCID

, Tamim H. Shaikh, Benjamin W. Darbro, Alexander G. Bassuk

Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?

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Hung-Chun Yu

ORCID

, Elizabeth A. Geiger, Livija Medne, Elaine H. Zackai, Tamim H. Shaikh

An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations inKAT6B

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2013 Hung-Chun Yu

ORCID

, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli

ORCID

, Curtis R. Coughlin, Elizabeth A. Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L. K. Van Hove, Brian Fowler, Matthias R. Baumgartner

ORCID

and 3 other authors

An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

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This paper was not found in any repository; the policy of its publisher is unknown or unclear.

2008 Hung-Chun Yu

ORCID

Comparative and functional genomics study of the telomeric 7.73-Mb region from marker D22S418 through D22S1726 on human chromosome 22

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2007 Adam Siepel

ORCID

, Mark Diekhans, Broňa Brejová, Laura Langton, Michael Stevens, Charles L. G. Comstock, Colleen Davis, Brent Ewing, Shelly Oommen, Christopher Lau, Hung-Chun Yu

ORCID

, Jianfeng Li, Bruce A. Roe, Phil Green, Daniela S. Gerhard and 3 other authors

Targeted discovery of novel human exons by comparative genomics

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