Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Richard Lao"'
Autor:
Weilai Dong, Karen H.Y. Wong, Youbin Liu, Michal Levy-Sakin, Wei-Chien Hung, Mo Li, Boyang Li, Sheng Chih Jin, Jungmin Choi, Francesc Lopez-Giraldez, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Irina Movsesyan, Mary J. Malloy, Hongyu Zhao, Pui-Yan Kwok, John P. Kane, Richard P. Lifton, Clive R. Pullinger
Publikováno v:
Journal of Lipid Research, Vol 63, Iss 6, Pp 100209- (2022)
Low levels of high density lipoprotein-cholesterol (HDL-C) are associated with an elevated risk of arteriosclerotic coronary heart disease. Heritability of HDL-C levels is high. In this research discovery study, we used whole-exome sequencing to iden
Externí odkaz:
https://doaj.org/article/9009d5614d1843c1a294988f08875cf9
Autor:
Karen H.Y. Wong, Michal Levy‐Sakin, Walfred Ma, Nina Gonzaludo, Angel C.Y. Mak, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Zoe Grenville, Nicolas Wong, John P. Kane, Pui‐Yan Kwok, Mary J. Malloy, Clive R. Pullinger
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Abstract Background Homozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low‐density lipoprotein (LDL) cholesterol in affected individuals. It is usually caused by homozygous o
Externí odkaz:
https://doaj.org/article/d6dd132b586144a49db854b61fbb6e01
Autor:
Tanya Bardakjian, Max Krall, Di Wu, Richard Lao, Paul Ling-Fung Tang, Eunice Wan, Sarina Kopinsky, Adele Schneider, Pui-yan Kwok, Anne Slavotinek
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 7, Iss C, Pp 102-106 (2017)
Purpose: The genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor 3 (GDF3) gene have previously been reported in patients with microphthalmia, iridial and retinal co
Externí odkaz:
https://doaj.org/article/efe52b12b9744d6195a0ceb513f3de87
Autor:
Zoe Grenville, Walfred Ma, Richard Lao, Clive R. Pullinger, Mary J. Malloy, Annie Poon, John P. Kane, Angel C.Y. Mak, Melek Balamir, Catherine J. Chu, Nina Gonzaludo, Nicolas Wong, Dedeepya Vaka, Pui-Yan Kwok, Michal Levy-Sakin, Karen H. Y. Wong
Publikováno v:
Molecular genetics & genomic medicine, vol 7, iss 12
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 7, Iss 12, Pp n/a-n/a (2019)
Background Homozygous Familial Hypercholesterolemia (HoFH) is an inherited recessive condition associated with extremely high levels of low‐density lipoprotein (LDL) cholesterol in affected individuals. It is usually caused by homozygous or compoun
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::397ee9a801540e8dac1cb534fb785916
https://escholarship.org/uc/item/52g9w46v
https://escholarship.org/uc/item/52g9w46v
Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification
Autor:
Jennifer M. Puck, Richard Lao, Dedeepya Vaka, Flavia Chen, George Freedman, Pui-Yan Kwok, Mark N. Kvale, Eunice Wan, Robert Currier, Laia Bassaganyas
Publikováno v:
Human mutation, vol 39, iss 1
Newborn screening for rare conditions is performed in all 50 states in the USA. We have partnered with the California Department of Public Health Genetic Disease Laboratory to determine whether sufficient DNA can be extracted from archived dried bloo
Autor:
Paul Ling-Fung Tang, Sarina Kopinsky, Pui-Yan Kwok, Richard Lao, Max Krall, Di Wu, Anne Slavotinek, Adele Schneider, Tanya Bardakjian, Eunice Wan
Publikováno v:
American Journal of Ophthalmology Case Reports
American Journal of Ophthalmology Case Reports, Vol 7, Iss C, Pp 102-106 (2017)
American Journal of Ophthalmology Case Reports, Vol 7, Iss C, Pp 102-106 (2017)
Purpose The genetic causes of anophthalmia, microphthalmia and coloboma remain poorly understood. Missense mutations in Growth/Differentiation Factor 3 ( GDF3 ) gene have previously been reported in patients with microphthalmia, iridial and retinal c
Autor:
Ehsan Ullah, Adele Schneider, Muhammad Ansar, Sarina Kopinsky, Eunice Wan, Richard Lao, Pui-Yan Kwok, Tanya Bardakjian, P. Ling-Fung Tang, Di Wu, Lohith Madireddy, Sergio E. Baranzini, Anne Slavotinek
Publikováno v:
Ophthalmic genetics, vol 38, iss 4
To investigate the genetic etiology of anophthalmia and microphthalmia, we used exome sequencing in a Caucasian female with unilateral microphthalmia and coloboma, bilateral optic nerve hypoplasia, ventricular and atrial septal defects, and growth de
Autor:
Joanna J. Phillips, Richard Lao, Tarik Tihan, Joseph F. Costello, Arie Perry, Nicholas S Hill, Naina Thangaraj, Anny Shai, Nalin Gupta, Eunice Wan, Alpha B Diallo, Andrew W. Bollen, Kurtis I. Auguste, David A. Solomon, David Samuel, Cassie Kline, Mitchel S. Berger, Katherine Wendelsdorf, Anuradha Banerjee, David R. Raleigh, Julieann C. Lee, Tali Mazor, Corey Raffel
Publikováno v:
Lee, Julieann C; Mazor, Tali; Lao, Richard; Wan, Eunice; Diallo, Alpha B; Hill, Nicholas S; et al.(2019). Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma.. Acta neuropathologica, 137(5), 851-854. doi: 10.1007/s00401-019-01990-5. UCSF: Retrieved from: http://www.escholarship.org/uc/item/4494z38w
Acta Neuropathol
Acta neuropathologica, vol 137, iss 5
Acta Neuropathol
Acta neuropathologica, vol 137, iss 5
Author(s): Lee, Julieann C; Mazor, Tali; Lao, Richard; Wan, Eunice; Diallo, Alpha B; Hill, Nicholas S; Thangaraj, Naina; Wendelsdorf, Katherine; Samuel, David; Kline, Cassie N; Banerjee, Anuradha; Auguste, Kurtis; Raffel, Corey; Gupta, Nalin; Berger,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1fa12e8acc834807ab528cd309701a1
http://www.escholarship.org/uc/item/4494z38w
http://www.escholarship.org/uc/item/4494z38w
Autor:
Pui-Yan Kwok, Muzammil Ahmad Khan, Atanu Kumar Dutta, Muhammad Zubair, Richard Lao, Muhammad Ansar, Paul Ling-Fung Tang, Neelam Shah, Anne Slavotinek, Ehsan Ullah, Ghazanfar Ali, Sumita Danda, Sundus Sajid, Iftikhar Ahmed, Muhammad Arif Nadeem Saqib
Publikováno v:
Experimental Eye Research. 146:163-171
Anophthalmia and microphthalmia (A/M) are a group of rare developmental disorders that affect the size of the ocular globe. A/M may present as the sole clinical feature, but are also frequently found in a variety of syndromes. A/M is genetically hete
Autor:
R.O. Chen, Paul Ling-Fung Tang, Sarah L. Dugan, J.M. West, Tanya Bardakjian, Sergio E. Baranzini, Svetlana Lyalina, Adele Schneider, Ehsan Ullah, Di Wu, Jacqueline Harris, Eunice Wan, A. Patwardhan, A. G. de Alba Campomanes, Lohith Madireddy, Anne Slavotinek, M.J. Clark, S. Chervitz, K. Umeda, G. Chandratillake, Bryce A. Mendelsohn, Richard Lao, Pui-Yan Kwok, Philip C. Ursell, J. Tirch, R. Tischler, S.T. Garcia
Publikováno v:
Clinical Genetics. 88:468-473
Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE Exome(TM) (Personalis, Inc; 18 cases) and UCSF Genomics Core (21 cases