Richard Lao

Richard Lao

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Richard Lao

Richard Lao

Publications by authors named "Richard Lao"

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Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Authors:
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

Mol Genet Genomic Med 2019 Dec 16;7(12):e1007. Epub 2019 Oct 16.

Cardiovascular Research Institute, University of California, San Francisco, CA, USA.

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http://dx.doi.org/10.1002/mgg3.1007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900368PMC
December 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.

Authors:
Julieann C Lee Tali Mazor Richard Lao Eunice Wan Alpha B Diallo Nicholas S Hill Naina Thangaraj Katherine Wendelsdorf David Samuel Cassie N Kline Anuradha Banerjee Kurtis Auguste Corey Raffel Nalin Gupta Mitchel Berger David R Raleigh Anny Shai Joanna J Phillips Andrew W Bollen Tarik Tihan Arie Perry Joseph Costello David A Solomon

Acta Neuropathol 2019 May 14;137(5):851-854. Epub 2019 Mar 14.

Division of Neuropathology, Department of Pathology, University of California, San Francisco, CA, USA.

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http://dx.doi.org/10.1007/s00401-019-01990-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483828PMC
May 2019

Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification.

Authors:
Laia Bassaganyas George Freedman Dedeepya Vaka Eunice Wan Richard Lao Flavia Chen Mark Kvale Robert J Currier Jennifer M Puck Pui-Yan Kwok

Hum Mutat 2018 01 6;39(1):167-171. Epub 2017 Nov 6.

Cardiovascular Research Institute, University of California, San Francisco, California.

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http://dx.doi.org/10.1002/humu.23356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738671PMC
January 2018

A recurrent, non-penetrant sequence variant, p.Arg266Cys in Growth/Differentiation Factor 3 () in a female with unilateral anophthalmia and skeletal anomalies.

Authors:
Tanya Bardakjian Max Krall Di Wu Richard Lao Paul Ling-Fung Tang Eunice Wan Sarina Kopinsky Adele Schneider Pui-Yan Kwok Anne Slavotinek

Am J Ophthalmol Case Rep 2017 Sep 21;7:102-106. Epub 2017 Jun 21.

Dept. of Pediatrics, Division of Genetics, University of California San Francisco, San Francisco, CA, USA.

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http://dx.doi.org/10.1016/j.ajoc.2017.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5722175PMC
September 2017

Genetic analysis of consanguineous families presenting with congenital ocular defects.

Authors:
Ehsan Ullah Muhammad Arif Nadeem Saqib Sundus Sajid Neelam Shah Muhammad Zubair Muzammil Ahmad Khan Iftikhar Ahmed Ghazanfar Ali Atanu Kumar Dutta Sumita Danda Richard Lao Paul Ling-Fung Tang Pui-Yan Kwok Muhammad Ansar Anne Slavotinek

Exp Eye Res 2016 05 16;146:163-71. Epub 2016 Mar 16.

Department of Pediatrics, University of California, San Francisco, CA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2016.03.014DOI Listing
May 2016

DLX4 is associated with orofacial clefting and abnormal jaw development.

Authors:
Di Wu Shyamali Mandal Alex Choi August Anderson Michaela Prochazkova Hazel Perry Vera L Gil-Da-Silva-Lopes Richard Lao Eunice Wan Paul Ling-Fung Tang Pui-yan Kwok Ophir Klein Bian Zhuan Anne M Slavotinek

Hum Mol Genet 2015 Aug 7;24(15):4340-52. Epub 2015 May 7.

Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143, USA, Institute for Human Genetics, University of California, San Francisco, San Francisco, CA, USA,

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http://dx.doi.org/10.1093/hmg/ddv167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4492397PMC
August 2015

Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

Authors:
Mark N Kvale Stephanie Hesselson Thomas J Hoffmann Yang Cao David Chan Sheryl Connell Lisa A Croen Brad P Dispensa Jasmin Eshragh Andrea Finn Jeremy Gollub Carlos Iribarren Eric Jorgenson Lawrence H Kushi Richard Lao Yontao Lu Dana Ludwig Gurpreet K Mathauda William B McGuire Gangwu Mei Sunita Miles Michael Mittman Mohini Patil Charles P Quesenberry Dilrini Ranatunga Sarah Rowell Marianne Sadler Lori C Sakoda Michael Shapero Ling Shen Tanu Shenoy David Smethurst Carol P Somkin Stephen K Van Den Eeden Lawrence Walter Eunice Wan Teresa Webster Rachel A Whitmer Simon Wong Chia Zau Yiping Zhan Catherine Schaefer Pui-Yan Kwok Neil Risch

Genetics 2015 Aug 19;200(4):1051-60. Epub 2015 Jun 19.

Institute for Human Genetics, University of California, San Francisco, California 94143 Department of Epidemiology and Biostatistics, University of California, San Francisco, California 94158 Kaiser Permanente Northern California Division of Research, Oakland, California 94612

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http://dx.doi.org/10.1534/genetics.115.178905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4574249PMC
August 2015

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

Authors:
Alex Choi Richard Lao Paul Ling-Fung Tang Eunice Wan Wasima Mayer Tanya Bardakjian Gary M Shaw Pui-Yan Kwok Adele Schneider Anne Slavotinek

Eur J Hum Genet 2015 Mar 18;23(3):337-41. Epub 2014 Jun 18.

Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA.

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http://www.nature.com/articles/ejhg2014119
Publisher Site
http://dx.doi.org/10.1038/ejhg.2014.119DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326713PMC
March 2015

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

Authors:
Anne M Slavotinek Pavni Mehrotra Irina Nazarenko Paul Ling-Fung Tang Richard Lao Don Cameron Ben Li Catherine Chu Chris Chou Ann L Marqueling Mani Yahyavi Kelly Cordoro Ilona Frieden Tom Glaser Trine Prescott Marie-Anne Morren Koen Devriendt Pui-yan Kwok Martin Petkovich Robert J Desnick

Hum Mol Genet 2013 Feb 16;22(4):696-703. Epub 2012 Nov 16.

Division of Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA 94143-0316, USA.

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http://dx.doi.org/10.1093/hmg/dds477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3554199PMC
February 2013

Next generation genome-wide association tool: design and coverage of a high-throughput European-optimized SNP array.

Authors:
Thomas J Hoffmann Mark N Kvale Stephanie E Hesselson Yiping Zhan Christine Aquino Yang Cao Simon Cawley Elaine Chung Sheryl Connell Jasmin Eshragh Marcia Ewing Jeremy Gollub Mary Henderson Earl Hubbell Carlos Iribarren Jay Kaufman Richard Z Lao Yontao Lu Dana Ludwig Gurpreet K Mathauda William McGuire Gangwu Mei Sunita Miles Matthew M Purdy Charles Quesenberry Dilrini Ranatunga Sarah Rowell Marianne Sadler Michael H Shapero Ling Shen Tanushree R Shenoy David Smethurst Stephen K Van den Eeden Larry Walter Eunice Wan Reid Wearley Teresa Webster Christopher C Wen Li Weng Rachel A Whitmer Alan Williams Simon C Wong Chia Zau Andrea Finn Catherine Schaefer Pui-Yan Kwok Neil Risch

Genomics 2011 Aug 30;98(2):79-89. Epub 2011 Apr 30.

Institute for Human Genetics, University of California, San Francisco 94143-0794, CA, USA.

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http://dx.doi.org/10.1016/j.ygeno.2011.04.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3146553PMC
August 2011