Publications by authors named "Michael O Dorschner"

53Publications

Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.

Am J Hum Genet 2019 09 15;105(3):526-533. Epub 2019 Aug 15.

Department of Medicine (Medical Genetics), University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731361PMC
September 2019

LMX1B-Associated Nephropathy With Type III Collagen Deposition in the Glomerular and Tubular Basement Membranes.

Am J Kidney Dis 2018 08 12;72(2):296-301. Epub 2017 Dec 12.

Department of Pathology, University of Washington, Seattle, WA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S02726386173103
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http://dx.doi.org/10.1053/j.ajkd.2017.09.023DOI Listing
August 2018

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

Am J Hum Genet 2017 Aug;101(2):291-299

Monique and Jacques Roboh Department of Genetic Research, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel; Pediatric Neurology Unit, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2017.07.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5544387PMC
August 2017

Building a family network from genetic testing.

Mol Genet Genomic Med 2017 Mar 29;5(2):122-129. Epub 2016 Dec 29.

Department of Medicine (Medical Genetics) and Genomic Sciences University of Washington Seattle WA 98195 USA.

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http://dx.doi.org/10.1002/mgg3.259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370219PMC
March 2017

Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.

Neurobiol Aging 2017 05 10;53:195.e11-195.e17. Epub 2017 Feb 10.

Geriatric Research Education and Clinical Center, Veterans Affairs Puget Sound Health Care System, Seattle, Seattle, WA, USA; Department of Neurology, University of Washington, Seattle, Seattle, WA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2017.02.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5385275PMC
May 2017

ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations.

Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.

From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

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http://dx.doi.org/10.1212/WNL.0000000000002058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676753PMC
December 2015

R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study.

JAMA Neurol 2015 Aug;72(8):920-7

Department of Neurology, University of Washington, Seattle5Department of Medicine (Medical Genetics), University of Washington, Seattle9Geriatric Research, Education, and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington.

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http://dx.doi.org/10.1001/jamaneurol.2015.0979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4825672PMC
August 2015

Development of clinical decision support alerts for pharmacogenomic incidental findings from exome sequencing.

Genet Med 2015 Nov 5;17(11):939-42. Epub 2015 Mar 5.

Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2015.5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4976082PMC
November 2015

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

Genome Res 2015 Mar 30;25(3):305-15. Epub 2015 Jan 30.

Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington 98195, USA; Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA;

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http://dx.doi.org/10.1101/gr.183483.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352885PMC
March 2015

Regulatory changes raise troubling questions for genomic testing.

Genet Med 2014 Nov 25;16(11):799-803. Epub 2014 Sep 25.

1] Department of Medicine/Medical Genetics , University of Washington, Seattle, Washington, USA [2] Department of Genome Sciences, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1038/gim.2014.127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4308037PMC
November 2014

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Am J Hum Genet 2013 Oct 19;93(4):631-40. Epub 2013 Sep 19.

Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA 98195, USA; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1016/j.ajhg.2013.08.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791261PMC
October 2013

Gammaretroviral vector integration occurs overwhelmingly within and near DNase hypersensitive sites.

Hum Gene Ther 2012 Feb 14;23(2):231-7. Epub 2011 Dec 14.

Department of Medicine, Division of Medical Genetics, University of Washington , Seattle, WA 98195, USA.

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http://dx.doi.org/10.1089/hum.2010.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277727PMC
February 2012

Sequencing newly replicated DNA reveals widespread plasticity in human replication timing.

Proc Natl Acad Sci U S A 2010 Jan 4;107(1):139-44. Epub 2009 Dec 4.

Department of Medicine, Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA.

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http://dx.doi.org/10.1073/pnas.0912402107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2806781PMC
January 2010

Oct4 dependence of chromatin structure within the extended Nanog locus in ES cells.

Genes Dev 2008 Mar 18;22(5):575-80. Epub 2008 Feb 18.

Division of Hematology-Oncology, Children's Hospital and Dana Farber Cancer Institute, Harvard Medical School, Harvard Stem Cell Institute, Boston, MA 02115, USA.

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http://dx.doi.org/10.1101/gad.1606308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2259027PMC
March 2008

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project.

Authors:
Ewan Birney John A Stamatoyannopoulos Anindya Dutta Roderic Guigó Thomas R Gingeras Elliott H Margulies Zhiping Weng Michael Snyder Emmanouil T Dermitzakis Robert E Thurman Michael S Kuehn Christopher M Taylor Shane Neph Christoph M Koch Saurabh Asthana Ankit Malhotra Ivan Adzhubei Jason A Greenbaum Robert M Andrews Paul Flicek Patrick J Boyle Hua Cao Nigel P Carter Gayle K Clelland Sean Davis Nathan Day Pawandeep Dhami Shane C Dillon Michael O Dorschner Heike Fiegler Paul G Giresi Jeff Goldy Michael Hawrylycz Andrew Haydock Richard Humbert Keith D James Brett E Johnson Ericka M Johnson Tristan T Frum Elizabeth R Rosenzweig Neerja Karnani Kirsten Lee Gregory C Lefebvre Patrick A Navas Fidencio Neri Stephen C J Parker Peter J Sabo Richard Sandstrom Anthony Shafer David Vetrie Molly Weaver Sarah Wilcox Man Yu Francis S Collins Job Dekker Jason D Lieb Thomas D Tullius Gregory E Crawford Shamil Sunyaev William S Noble Ian Dunham France Denoeud Alexandre Reymond Philipp Kapranov Joel Rozowsky Deyou Zheng Robert Castelo Adam Frankish Jennifer Harrow Srinka Ghosh Albin Sandelin Ivo L Hofacker Robert Baertsch Damian Keefe Sujit Dike Jill Cheng Heather A Hirsch Edward A Sekinger Julien Lagarde Josep F Abril Atif Shahab Christoph Flamm Claudia Fried Jörg Hackermüller Jana Hertel Manja Lindemeyer Kristin Missal Andrea Tanzer Stefan Washietl Jan Korbel Olof Emanuelsson Jakob S Pedersen Nancy Holroyd Ruth Taylor David Swarbreck Nicholas Matthews Mark C Dickson Daryl J Thomas Matthew T Weirauch James Gilbert Jorg Drenkow Ian Bell XiaoDong Zhao K G Srinivasan Wing-Kin Sung Hong Sain Ooi Kuo Ping Chiu Sylvain Foissac Tyler Alioto Michael Brent Lior Pachter Michael L Tress Alfonso Valencia Siew Woh Choo Chiou Yu Choo Catherine Ucla Caroline Manzano Carine Wyss Evelyn Cheung Taane G Clark James B Brown Madhavan Ganesh Sandeep Patel Hari Tammana Jacqueline Chrast Charlotte N Henrichsen Chikatoshi Kai Jun Kawai Ugrappa Nagalakshmi Jiaqian Wu Zheng Lian Jin Lian Peter Newburger Xueqing Zhang Peter Bickel John S Mattick Piero Carninci Yoshihide Hayashizaki Sherman Weissman Tim Hubbard Richard M Myers Jane Rogers Peter F Stadler Todd M Lowe Chia-Lin Wei Yijun Ruan Kevin Struhl Mark Gerstein Stylianos E Antonarakis Yutao Fu Eric D Green Ulaş Karaöz Adam Siepel James Taylor Laura A Liefer Kris A Wetterstrand Peter J Good Elise A Feingold Mark S Guyer Gregory M Cooper George Asimenos Colin N Dewey Minmei Hou Sergey Nikolaev Juan I Montoya-Burgos Ari Löytynoja Simon Whelan Fabio Pardi Tim Massingham Haiyan Huang Nancy R Zhang Ian Holmes James C Mullikin Abel Ureta-Vidal Benedict Paten Michael Seringhaus Deanna Church Kate Rosenbloom W James Kent Eric A Stone Serafim Batzoglou Nick Goldman Ross C Hardison David Haussler Webb Miller Arend Sidow Nathan D Trinklein Zhengdong D Zhang Leah Barrera Rhona Stuart David C King Adam Ameur Stefan Enroth Mark C Bieda Jonghwan Kim Akshay A Bhinge Nan Jiang Jun Liu Fei Yao Vinsensius B Vega Charlie W H Lee Patrick Ng Atif Shahab Annie Yang Zarmik Moqtaderi Zhou Zhu Xiaoqin Xu Sharon Squazzo Matthew J Oberley David Inman Michael A Singer Todd A Richmond Kyle J Munn Alvaro Rada-Iglesias Ola Wallerman Jan Komorowski Joanna C Fowler Phillippe Couttet Alexander W Bruce Oliver M Dovey Peter D Ellis Cordelia F Langford David A Nix Ghia Euskirchen Stephen Hartman Alexander E Urban Peter Kraus Sara Van Calcar Nate Heintzman Tae Hoon Kim Kun Wang Chunxu Qu Gary Hon Rosa Luna Christopher K Glass M Geoff Rosenfeld Shelley Force Aldred Sara J Cooper Anason Halees Jane M Lin Hennady P Shulha Xiaoling Zhang Mousheng Xu Jaafar N S Haidar Yong Yu Yijun Ruan Vishwanath R Iyer Roland D Green Claes Wadelius Peggy J Farnham Bing Ren Rachel A Harte Angie S Hinrichs Heather Trumbower Hiram Clawson Jennifer Hillman-Jackson Ann S Zweig Kayla Smith Archana Thakkapallayil Galt Barber Robert M Kuhn Donna Karolchik Lluis Armengol Christine P Bird Paul I W de Bakker Andrew D Kern Nuria Lopez-Bigas Joel D Martin Barbara E Stranger Abigail Woodroffe Eugene Davydov Antigone Dimas Eduardo Eyras Ingileif B Hallgrímsdóttir Julian Huppert Michael C Zody Gonçalo R Abecasis Xavier Estivill Gerard G Bouffard Xiaobin Guan Nancy F Hansen Jacquelyn R Idol Valerie V B Maduro Baishali Maskeri Jennifer C McDowell Morgan Park Pamela J Thomas Alice C Young Robert W Blakesley Donna M Muzny Erica Sodergren David A Wheeler Kim C Worley Huaiyang Jiang George M Weinstock Richard A Gibbs Tina Graves Robert Fulton Elaine R Mardis Richard K Wilson Michele Clamp James Cuff Sante Gnerre David B Jaffe Jean L Chang Kerstin Lindblad-Toh Eric S Lander Maxim Koriabine Mikhail Nefedov Kazutoyo Osoegawa Yuko Yoshinaga Baoli Zhu Pieter J de Jong
June 2007

High-throughput localization of functional elements by quantitative chromatin profiling.

Nat Methods 2004 Dec 18;1(3):219-25. Epub 2004 Nov 18.

Department of Molecular Biology, Regulome, 2211 Elliott Avenue, Suite 600, Seattle, Washington 98121, USA.

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http://dx.doi.org/10.1038/nmeth721DOI Listing
December 2004

Discovery of functional noncoding elements by digital analysis of chromatin structure.

Proc Natl Acad Sci U S A 2004 Nov 18;101(48):16837-42. Epub 2004 Nov 18.

Department of Molecular Biology, Regulome, 2211 Elliott Avenue, Suite 600, Seattle, WA 98121, USA.

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http://dx.doi.org/10.1073/pnas.0407387101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC534745PMC
November 2004

Genomic context of paralogous recombination hotspots mediating recurrent NF1 region microdeletion.

Genes Chromosomes Cancer 2004 Sep;41(1):12-25

Department of Medicine, University of Washington, Seattle, Washington, USA.

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http://dx.doi.org/10.1002/gcc.20065DOI Listing
September 2004

Genome-wide identification of DNaseI hypersensitive sites using active chromatin sequence libraries.

Proc Natl Acad Sci U S A 2004 Mar 19;101(13):4537-42. Epub 2004 Mar 19.

Department of Molecular Biology, Regulome, Canal View Building, 551 North 34th Street, Seattle, WA 98103, USA.

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http://dx.doi.org/10.1073/pnas.0400678101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC384782PMC
March 2004

Complete physical map and gene content of the human NF1 tumor suppressor region in human and mouse.

Genes Chromosomes Cancer 2003 Jun;37(2):111-20

Department of Neuroimmunology, Max-Planck-Institute of Neurobiology, Martinsried, Germany.

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http://dx.doi.org/10.1002/gcc.10206DOI Listing
June 2003

The zebrafish mutant gene chardonnay (cdy) encodes divalent metal transporter 1 (DMT1).

Blood 2002 Dec 22;100(13):4655-9. Epub 2002 Aug 22.

Department of Hematology/Oncology, and Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2002-04-11
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http://dx.doi.org/10.1182/blood-2002-04-1169DOI Listing
December 2002

Diagnosis of five spinocerebellar ataxia disorders by multiplex amplification and capillary electrophoresis.

J Mol Diagn 2002 May;4(2):108-13

Department of Medicine, Medical Genetics 357720, University of Washington, 1959 NE Pacific Street, Seattle, WA 98195-7720, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S15251578106068
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1906987PMC
http://dx.doi.org/10.1016/S1525-1578(10)60689-7DOI Listing
May 2002