Erin L Heinzen

Erin L Heinzen

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Erin L Heinzen

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Development and validation of a predictive model of drug-resistant genetic generalized epilepsy.

Neurology 2020 Aug 5. Epub 2020 Aug 5.

Department of Genetics, Human Genetics Institute of New Jersey, Rutgers, The State University of New Jersey, Piscataway, NJ.

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http://dx.doi.org/10.1212/WNL.0000000000010597DOI Listing
August 2020

Somatic variants in epilepsy - advancing gene discovery and disease mechanisms.

Authors:
Erin L Heinzen

Curr Opin Genet Dev 2020 May 15;65:1-7. Epub 2020 May 15.

Eshelman School of Pharmacy, Division of Pharmacotherapy and Experimental Therapeutics, University of North Carolina, Chapel Hill, NC, United States; Department of Genetics, School of Medicine, University of North Carolina, Chapel Hill, NC, United States. Electronic address:

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http://dx.doi.org/10.1016/j.gde.2020.04.004DOI Listing
May 2020

De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.

Eur J Med Genet 2020 Jan 31;63(1):103625. Epub 2019 Jan 31.

Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Ireland; The FutureNeuro Research Centre, RCSI, Dublin, Ireland. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2019.01.015DOI Listing
January 2020

Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 04;51(4):764

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://dx.doi.org/10.1038/s41588-019-0376-0DOI Listing
April 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nat Genet 2019 01 21;51(1):117-127. Epub 2018 Dec 21.

Division of Nephrology, Department of Medicine, Columbia University, New York, NY, USA.

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http://www.nature.com/articles/s41588-018-0281-y
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http://dx.doi.org/10.1038/s41588-018-0281-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668343PMC
January 2019

Genetic literacy series: Primer part 2-Paradigm shifts in epilepsy genetics.

Epilepsia 2018 06 9;59(6):1138-1147. Epub 2018 May 9.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.

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http://dx.doi.org/10.1111/epi.14193DOI Listing
June 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell J Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Somatic uniparental disomy of Chromosome 16p in hemimegalencephaly.

Cold Spring Harb Mol Case Stud 2017 Sep 1;3(5). Epub 2017 Sep 1.

Institute for Genomic Medicine, Columbia University, New York, New York 10032, USA.

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http://dx.doi.org/10.1101/mcs.a001735DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593155PMC
September 2017

Annotating pathogenic non-coding variants in genic regions.

Nat Commun 2017 08 9;8(1):236. Epub 2017 Aug 9.

Institute for Genomic Medicine, Columbia University Medical Center, New York, New York, 10032, USA.

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http://dx.doi.org/10.1038/s41467-017-00141-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550444PMC
August 2017

Reply.

Ann Neurol 2017 01;81(1):161-162

Department of Genetics, Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.

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http://dx.doi.org/10.1002/ana.24837DOI Listing
January 2017

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy.

Am J Hum Genet 2016 08 21;99(2):423-9. Epub 2016 Jul 21.

Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974069PMC
August 2016

Primer Part 1-The building blocks of epilepsy genetics.

Epilepsia 2016 Jun 25;57(6):861-8. Epub 2016 May 25.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, U.S.A.

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http://dx.doi.org/10.1111/epi.13381DOI Listing
June 2016

The genetics of neuropsychiatric diseases: looking in and beyond the exome.

Annu Rev Neurosci 2015 Jul 2;38:47-68. Epub 2015 Apr 2.

Institute for Genomic Medicine.

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http://dx.doi.org/10.1146/annurev-neuro-071714-034136DOI Listing
July 2015

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis.

Neurol Genet 2015 Jun 17;1(1):e4. Epub 2015 Apr 17.

Department of Molecular Genetics and Microbiology (S.S.B.), Duke University School of Medicine (R.S.D., S.S.B., X.Y.), Durham, NC; Institute for Genomic Medicine (E.L.H., S.P., B.J.K., D.B.G.), Columbia University, New York, NY; Department of Medicine (S. Petrovski), The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Australia; Centre for Clinical Translation (M.R.J.), Division of Brain Sciences, Imperial College London, Charing Cross Hospital Campus, London, United Kingdom; The Jackson Laboratory (W.N.F., R.M.B.), Bar Harbor, ME; and Division of Epilepsy (S. Petrou), The Florey Institute of Neuroscience, Victoria, Australia.

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http://dx.doi.org/10.1212/01.NXG.0000464295.65736.daDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821085PMC
June 2015

A functional correlate of severity in alternating hemiplegia of childhood.

Neurobiol Dis 2015 May 12;77:88-93. Epub 2015 Feb 12.

Ion Channels & Disease Group, Epilepsy Division, The Florey Institute of Neuroscience and Mental Health, Parkville, Victoria, Australia; Centre for Neural Engineering, Department of Electrical Engineering, The University of Melbourne, Victoria, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2015.02.002DOI Listing
May 2015

Utilizing population controls in rare-variant case-parent association tests.

Am J Hum Genet 2014 Jun 15;94(6):845-53. Epub 2014 May 15.

Department of Biostatistics and Bioinformatics, Duke University, Durham, NC 27710, USA; Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.04.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121482PMC
June 2014

Genic intolerance to functional variation and the interpretation of personal genomes.

PLoS Genet 2013 22;9(8):e1003709. Epub 2013 Aug 22.

Center for Human Genome Variation, Duke University, School of Medicine, Durham, North Carolina, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1003709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3749936PMC
March 2014

De novo mutations in epileptic encephalopathies.

Nature 2013 Sep 11;501(7466):217-21. Epub 2013 Aug 11.

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http://dx.doi.org/10.1038/nature12439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773011PMC
September 2013

Prioritizing genetic variants for causality on the basis of preferential linkage disequilibrium.

Am J Hum Genet 2012 Sep 30;91(3):422-34. Epub 2012 Aug 30.

Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA.

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http://dx.doi.org/10.1016/j.ajhg.2012.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511993PMC
September 2012

A whole-genome analysis of premature termination codons.

Genomics 2011 Nov 22;98(5):337-42. Epub 2011 Jul 22.

Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA.

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http://dx.doi.org/10.1016/j.ygeno.2011.07.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3282586PMC
November 2011

Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery.

Epilepsia 2011 Aug 2;52(8):1388-92. Epub 2011 Jun 2.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03087.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3399084PMC
August 2011

SVA: software for annotating and visualizing sequenced human genomes.

Bioinformatics 2011 Jul 29;27(14):1998-2000. Epub 2011 May 29.

Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, USA.

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http://dx.doi.org/10.1093/bioinformatics/btr317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129530PMC
July 2011

A genome-wide comparison of the functional properties of rare and common genetic variants in humans.

Am J Hum Genet 2011 Apr 31;88(4):458-68. Epub 2011 Mar 31.

Center for Human Genome Variation, Duke University School of Medicine, Durham, NC 27708, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.03.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3071924PMC
April 2011

Screening the human exome: a comparison of whole genome and whole transcriptome sequencing.

Genome Biol 2010 28;11(5):R57. Epub 2010 May 28.

Center for Human Genome Variation, Duke University School of Medicine, Box 91009, Durham, NC 27708, USA.

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http://dx.doi.org/10.1186/gb-2010-11-5-r57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898068PMC
September 2010

Genome-wide scan of copy number variation in late-onset Alzheimer's disease.

J Alzheimers Dis 2010 ;19(1):69-77

Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University Medical Center, Durham, NC 27708, USA.

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http://dx.doi.org/10.3233/JAD-2010-1212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883723PMC
August 2010

Ethical challenges in genotype-driven research recruitment.

Genome Res 2010 Jun 23;20(6):705-9. Epub 2010 Apr 23.

Center for Genome Ethics, Law and Policy, Duke Institute for Genome Sciences and Policy, Durham, North Carolina 27708, USA.

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http://dx.doi.org/10.1101/gr.104455.109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877567PMC
June 2010

Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance.

Nature 2009 Sep 16;461(7262):399-401. Epub 2009 Aug 16.

Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA.

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http://dx.doi.org/10.1038/nature08309DOI Listing
September 2009

Postmortem delay has minimal effect on brain RNA integrity.

J Neuropathol Exp Neurol 2007 Dec;66(12):1093-9

Department Medicine (Neurology), Joseph and Kathleen Bryan Alzheimer's Disease Research Center, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1097/nen.0b013e31815c196aDOI Listing
December 2007

Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease.

Genome Biol 2007 ;8(3):R32

Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, Durham, NC 27710, USA.

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http://dx.doi.org/10.1186/gb-2007-8-3-r32DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1868939PMC
June 2007

Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A.

Am J Hum Genet 2007 May 3;80(5):876-83. Epub 2007 Apr 3.

Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, Durham, NC 27710, USA.

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http://dx.doi.org/10.1086/516650DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852745PMC
May 2007

The influence of norfloxacin and metronidazole on the disposition of mycophenolate mofetil.

J Clin Pharmacol 2005 Feb;45(2):219-26

University of North Carolina at Chapel Hill, School of Pharmacy and School of Medicine, Chapel Hill, NC 27599-7360, USA.

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http://dx.doi.org/10.1177/0091270004271555DOI Listing
February 2005

Neuronal nitric oxide modulates morphine antinociceptive tolerance by enhancing constitutive activity of the mu-opioid receptor.

Biochem Pharmacol 2005 Feb 7;69(4):679-88. Epub 2005 Jan 7.

Division of Drug Delivery and Disposition, School of Pharmacy, University of North Carolina, Chapel Hill, NC 27599-7360, USA.

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http://dx.doi.org/10.1016/j.bcp.2004.11.004DOI Listing
February 2005

Pharmacodynamics of morphine-induced neuronal nitric oxide production and antinociceptive tolerance development.

Brain Res 2004 Oct;1023(2):175-84

Division of Drug Delivery and Disposition, School of Pharmacy, University of North Carolina, CB No. 7360, Kerr Hall, Chapel Hill, NC 27599-7360, USA.

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http://dx.doi.org/10.1016/j.brainres.2004.07.015DOI Listing
October 2004

Use of an electrochemical nitric oxide sensor to detect neuronal nitric oxide production in conscious, unrestrained rats.

J Pharmacol Toxicol Methods 2002 Nov-Dec;48(3):139-46

Division of Drug Delivery and Disposition, School of Pharmacy, University of North Carolina, CB# 7360 Kerr Hall, Chapel Hill, NC 27599-7360, USA.

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http://dx.doi.org/10.1016/S1056-8719(03)00043-1DOI Listing
July 2004

The development of morphine antinociceptive tolerance in nitric oxide synthase-deficient mice.

Biochem Pharmacol 2004 Feb;67(4):735-41

Division of Drug Delivery and Disposition, School of Pharmacy, University of North Carolina, Kerr Hall CB 7360, Chapel Hill, NC 27599-7360, USA.

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http://dx.doi.org/10.1016/j.bcp.2003.08.046DOI Listing
February 2004

Pharmacokinetics and pharmacodynamics of L-arginine in rats: a model of stimulated neuronal nitric oxide synthesis.

Brain Res 2003 Oct;989(1):67-75

Division of Drug Delivery and Disposition, School of Pharmacy, University of North Carolina, Chapel Hill, NC 27599-7360, USA.

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http://dx.doi.org/10.1016/s0006-8993(03)03370-5DOI Listing
October 2003