Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Hai-Yun Yen"'
Autor:
Samuel P. Strom, Waheeda A. Hossain, Melina Grigorian, Mickey Li, Joseph Fierro, William Scaringe, Hai-Yun Yen, Mirandy Teguh, Joanna Liu, Harry Gao, Merlin G. Butler
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Establishing or ruling out a molecular diagnosis of Prader–Willi or Angelman syndrome (PWS/AS) presents unique challenges due to the variety of different genetic alterations that can lead to these conditions. Point mutations, copy number changes, u
Externí odkaz:
https://doaj.org/article/4520fe8605644d6ca460d43ba3987f8d
Autor:
Camilla S. Teng, Hai-Yun Yen, Lindsey Barske, Bea Smith, Juan Llamas, Neil Segil, John Go, Pedro A. Sanchez-Lara, Robert E. Maxson, J. Gage Crump
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Abstract Whereas Jagged1-Notch2 signaling is known to pattern the sensorineural components of the inner ear, its role in middle ear development has been less clear. We previously reported a role for Jagged-Notch signaling in shaping skeletal elements
Externí odkaz:
https://doaj.org/article/8e338a76f99742b7ba7c7902ebdbc3e9
Autor:
Ying Liu, Hai-Yun Yen, Theresa Austria, Jonas Pettersson, Janos Peti-Peterdi, Robert Maxson, Martin Widschwendter, Louis Dubeau
Publikováno v:
EBioMedicine, Vol 2, Iss 10, Pp 1318-1330 (2015)
Predisposition to breast and extrauterine Müllerian carcinomas in BRCA1 mutation carriers is due to a combination of cell-autonomous consequences of BRCA1 inactivation on cell cycle homeostasis superimposed on cell-nonautonomous hormonal factors mag
Externí odkaz:
https://doaj.org/article/46eb1f5f37d245b7b54ad8195794fba6
Autor:
Ying Liu, Malcolm C Pike, Nancy Wu, Yvonne G Lin, Sara Mucowski, Vasu Punj, Yuan Tang, Hai-Yun Yen, Frank Z Stanczyk, Elena Enbom, Theresa Austria, Martin Widschwendter, Robert Maxson, Louis Dubeau
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0139013 (2015)
We compared the gene expression profiles of ovarian granulosa cells harboring either mutant or wild type Brca1 to follow up on our earlier observation that absence of a functional Brca1 in these important regulators of menstrual/estrous cycle progres
Externí odkaz:
https://doaj.org/article/b09d9e9a92f140f1bafec24c02dc1366
Autor:
Ludwig Haydock, Hanlin Gao, Paul Isenring, Hai-Yun Yen, Raphaël Harrisson, Alexandre P. Garneau, Laurence E. Tremblay
Publikováno v:
Journal of Molecular Medicine (Berlin, Germany)
Abstract Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) have been linked to mutations in many of the proteins that are involved in alternative complement pathway activation. Age and etiology confounded, the prevalence of such m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b962553d1b58d16bb11b60e6dd5f08
https://doi.org/10.1007/s00109-021-02102-1
https://doi.org/10.1007/s00109-021-02102-1
Publikováno v:
Human Genetics. 140:477-492
Next-generation sequencing (NGS) is an incredibly useful tool for genetic disease diagnosis. However, the most commonly used bioinformatics methods for analyzing sequence reads insufficiently discriminate genomic regions with extensive sequence ident
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc0e061f9b72295dcd33625d451a6132
https://doi.org/10.1007/s00439-020-02216-5
https://doi.org/10.1007/s00439-020-02216-5
Autor:
Joanna Liu, Mirandy Teguh, Harry Gao, Samuel P. Strom, Merlin G. Butler, Hai-Yun Yen, William A Scaringe, Waheeda A. Hossain, Mickey Li, Melina Grigorian, Joseph Fierro
Publikováno v:
Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)
Frontiers in Genetics, Vol 12 (2021)
Establishing or ruling out a molecular diagnosis of Prader–Willi or Angelman syndrome (PWS/AS) presents unique challenges due to the variety of different genetic alterations that can lead to these conditions. Point mutations, copy number changes, u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c3064770a28cff693773b3efb890f47
https://pubmed.ncbi.nlm.nih.gov/34046054
https://pubmed.ncbi.nlm.nih.gov/34046054
Autor:
Bea Smith, Camilla S Teng, Neil Segil, Robert E. Maxson, Hai-Yun Yen, Lindsey Barske, J. Gage Crump, Pedro A. Sanchez-Lara, Juan Llamas, John L. Go
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Scientific Reports
Scientific Reports
Whereas Jagged1-Notch2 signaling is known to pattern the sensorineural components of the inner ear, its role in middle ear development has been less clear. We previously reported a role for Jagged-Notch signaling in shaping skeletal elements derived
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f26c6f1f823e9b85bc2bfc77b23c8d
https://doaj.org/article/8e338a76f99742b7ba7c7902ebdbc3e9
https://doaj.org/article/8e338a76f99742b7ba7c7902ebdbc3e9
Autor:
Joseph Fierro, Casey J Brewer, Hanlin Gao, Hai-Yun Yen, Jie Mickey Li, William A Scaringe, Che-Yu Lee, Samuel P. Strom, Meghan Gillespie
Publikováno v:
The Journal of molecular diagnostics : JMD. 22(5)
When a potential disease-causing variant is detected in a proband, parental testing is used to determine the mode of inheritance. This study demonstrates that next-generation sequencing (NGS) is uniquely well suited for parental testing, in particula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9a44868eb7199a94f5d166c619f339f
https://pubmed.ncbi.nlm.nih.gov/32092540
https://pubmed.ncbi.nlm.nih.gov/32092540
Autor:
Lindsey Miller, Merujan Y. Uzunyan, Elisabeth M. Lodder, David J. Tester, Julian Delanne, Hai Yun Yen, Géraldine Bertaux, Michael J. Ackerman, Connie R. Bezzina, Apichai Khongphatthanayothin, Shoji Yano, Sylvie Falcon-Eicher, Bryan C. Cannon, Hanlin Gao, Mischa Klerk, Shengnan Wu, Gabriel Laurent, Laurence Faivre, Arthur A.M. Wilde, Svitlana Podliesna
Publikováno v:
Heart Rhythm
Heart Rhythm, Elsevier, 2019, 16 (1), pp.98-105. ⟨10.1016/j.hrthm.2018.07.015⟩
Heart rhythm, 16(1), 98-105. Elsevier
Heart Rhythm, Elsevier, 2019, 16 (1), pp.98-105. ⟨10.1016/j.hrthm.2018.07.015⟩
Heart rhythm, 16(1), 98-105. Elsevier
IF 4.743 (2017); International audience; BackgroundRare genetic variants in TNNI3K encoding troponin-I interacting kinase have been linked to a distinct syndrome consisting primarily of supraventricular tachycardias and variably expressed conduction
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d694f76dd1fdc1418ca55809047ac078
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01990544
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01990544
