Lars Feuk

Lars Feuk

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Lars Feuk

Publications by authors named "Lars Feuk"

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Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family.

BMC Med Genomics 2019 Nov 6;12(1):156. Epub 2019 Nov 6.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Box 815, SE-751 08, Uppsala, Sweden.

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http://dx.doi.org/10.1186/s12920-019-0606-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6833288PMC
November 2019

Analyzing DNA methylation patterns in subjects diagnosed with schizophrenia using machine learning methods.

J Psychiatr Res 2019 Jul 2;114:41-47. Epub 2019 Apr 2.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00223956183139
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http://dx.doi.org/10.1016/j.jpsychires.2019.04.001DOI Listing
July 2019

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.

Clin Genet 2019 Mar 7;95(3):436-439. Epub 2018 Dec 7.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1111/cge.13470DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392105PMC
March 2019

Expression profiling and in situ screening of circular RNAs in human tissues.

Sci Rep 2018 11 16;8(1):16953. Epub 2018 Nov 16.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://www.nature.com/articles/s41598-018-35001-6
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http://dx.doi.org/10.1038/s41598-018-35001-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6240052PMC
November 2018

Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing.

Hum Mutat 2018 09 12;39(9):1262-1272. Epub 2018 Jul 12.

Science for Life Laboratory, Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1002/humu.23580DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175010PMC
September 2018

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 9;177(1):10-20. Epub 2017 Oct 9.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1002/ajmg.b.32574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765476PMC
January 2018

Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.

Hum Mutat 2017 10 12;38(10):1394-1401. Epub 2017 Jun 12.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1002/humu.23268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180480PMC
October 2017

Mutations in HECW2 are associated with intellectual disability and epilepsy.

J Med Genet 2016 10 22;53(10):697-704. Epub 2016 Jun 22.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1136/jmedgenet-2016-103814DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099177PMC
October 2016

A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.

Hum Mutat 2016 09 8;37(9):964-75. Epub 2016 Jul 8.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Sweden.

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http://dx.doi.org/10.1002/humu.23034DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6681169PMC
September 2016

One CNV Discordance in NRXN1 Observed Upon Genome-wide Screening in 38 Pairs of Adult Healthy Monozygotic Twins.

Twin Res Hum Genet 2016 Apr 22;19(2):97-103. Epub 2016 Feb 22.

Department of Medical Epidemiology and Biostatistics,Karolinska Institutet,Stockholm,Sweden.

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http://dx.doi.org/10.1017/thg.2016.5DOI Listing
April 2016

Transcriptome Profiling Reveals Degree of Variability in Induced Pluripotent Stem Cell Lines: Impact for Human Disease Modeling.

Cell Reprogram 2015 Oct 8;17(5):327-37. Epub 2015 Sep 8.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University , Uppsala, Sweden .

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http://dx.doi.org/10.1089/cell.2015.0009DOI Listing
October 2015

Splicing in the human brain.

Int Rev Neurobiol 2014 ;116:95-125

Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden; Science for Life Laboratory, Uppsala University, Uppsala, Sweden. Electronic address:

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http://dx.doi.org/10.1016/B978-0-12-801105-8.00005-9DOI Listing
May 2015

Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.

Eur J Hum Genet 2014 Jul 27;22(7):902-6. Epub 2013 Nov 27.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1038/ejhg.2013.269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4060119PMC
July 2014

The Database of Genomic Variants: a curated collection of structural variation in the human genome.

Nucleic Acids Res 2014 Jan 29;42(Database issue):D986-92. Epub 2013 Oct 29.

The Centre for Applied Genomics, Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, 686 Bay Street, Toronto, Ontario M5G 0A4, Canada, Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala SE-751 08, Sweden and Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5S 1A8, Canada.

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http://dx.doi.org/10.1093/nar/gkt958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3965079PMC
January 2014

Efficient cellular fractionation improves RNA sequencing analysis of mature and nascent transcripts from human tissues.

BMC Biotechnol 2013 Nov 13;13:99. Epub 2013 Nov 13.

Department of Immunology, Genetics and Pathology, Rudbeck Laboratory and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://bmcbiotechnol.biomedcentral.com/articles/10.1186/1472
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http://dx.doi.org/10.1186/1472-6750-13-99DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3833653PMC
November 2013

Genome-wide association study of susceptibility loci for cervical cancer.

J Natl Cancer Inst 2013 May 12;105(9):624-33. Epub 2013 Mar 12.

Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, 751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1093/jnci/djt051DOI Listing
May 2013

RNA-binding protein QKI regulates Glial fibrillary acidic protein expression in human astrocytes.

Hum Mol Genet 2013 Apr 15;22(7):1373-82. Epub 2013 Jan 15.

Department of Evolution and Development, Evolutionary Biology Centre, Uppsala University, Uppsala,Sweden.

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http://dx.doi.org/10.1093/hmg/dds553DOI Listing
April 2013

Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing.

Hum Mutat 2013 Apr;34(4):572-7

Department of Immunology, Genetics and Pathology, The Rudbeck Laboratory and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://doi.wiley.com/10.1002/humu.22282
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http://dx.doi.org/10.1002/humu.22282DOI Listing
April 2013

Mechanisms of formation of structural variation in a fully sequenced human genome.

Hum Mutat 2013 Feb 19;34(2):345-54. Epub 2012 Nov 19.

Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/humu.22240DOI Listing
February 2013

Exome RNA sequencing reveals rare and novel alternative transcripts.

Nucleic Acids Res 2013 Jan 31;41(1):e6. Epub 2012 Aug 31.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Rudbeck Laboratory, Uppsala University, Uppsala 751 85, Sweden.

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https://academic.oup.com/nar/article/41/1/e6/1165444
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http://dx.doi.org/10.1093/nar/gks816DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3592422PMC
January 2013

Genome-wide sequencing for the identification of rearrangements associated with Tourette syndrome and obsessive-compulsive disorder.

BMC Med Genet 2012 Dec 19;13:123. Epub 2012 Dec 19.

Department of Immunology, Genetics and Pathology, Rudbeck Laboratory and Science for Life Laboratory, Uppsala University, Uppsala 751 85, Sweden.

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http://dx.doi.org/10.1186/1471-2350-13-123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3556158PMC
December 2012

Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 gene.

Epilepsia 2012 Aug 12;53(8):1436-40. Epub 2012 Jun 12.

Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1111/j.1528-1167.2012.03536.xDOI Listing
August 2012

Characterizing and interpreting genetic variation from personal genome sequencing.

Methods Mol Biol 2012 ;838:343-67

Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1007/978-1-61779-507-7_17DOI Listing
April 2012

Total RNA sequencing reveals nascent transcription and widespread co-transcriptional splicing in the human brain.

Nat Struct Mol Biol 2011 Nov 6;18(12):1435-40. Epub 2011 Nov 6.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.

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http://www.embl.de/predoccourse/2012/modules/rna/journal_clu
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http://www.nature.com/doifinder/10.1038/nsmb.2143
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http://dx.doi.org/10.1038/nsmb.2143DOI Listing
November 2011

Characterization of copy number-stable regions in the human genome.

Hum Mutat 2011 Aug 20;32(8):947-55. Epub 2011 Jul 20.

Department of Immunology, Genetics and Pathology, Rudbeck Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1002/humu.21524DOI Listing
August 2011

Identification of novel exons and transcribed regions by chimpanzee transcriptome sequencing.

Genome Biol 2010 23;11(7):R78. Epub 2010 Jul 23.

Department of Genetics and Pathology, Rudbeck laboratory, Uppsala University, SE-751 85 Uppsala, Sweden.

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http://dx.doi.org/10.1186/gb-2010-11-7-r78DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2926789PMC
December 2010

Global and unbiased detection of splice junctions from RNA-seq data.

Genome Biol 2010 17;11(3):R34. Epub 2010 Mar 17.

Department of Genetics and Pathology, Rudbeck laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1186/gb-2010-11-3-r34DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2864574PMC
September 2010

Towards a comprehensive structural variation map of an individual human genome.

Genome Biol 2010 19;11(5):R52. Epub 2010 May 19.

Department of Molecular Genetics, University of Toronto, 1 King's College Circle, Toronto, Ontario M5S 1A8, Canada.

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http://dx.doi.org/10.1186/gb-2010-11-5-r52DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2898065PMC
September 2010

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.

Authors:
Nick Craddock Matthew E Hurles Niall Cardin Richard D Pearson Vincent Plagnol Samuel Robson Damjan Vukcevic Chris Barnes Donald F Conrad Eleni Giannoulatou Chris Holmes Jonathan L Marchini Kathy Stirrups Martin D Tobin Louise V Wain Chris Yau Jan Aerts Tariq Ahmad T Daniel Andrews Hazel Arbury Anthony Attwood Adam Auton Stephen G Ball Anthony J Balmforth Jeffrey C Barrett Inês Barroso Anne Barton Amanda J Bennett Sanjeev Bhaskar Katarzyna Blaszczyk John Bowes Oliver J Brand Peter S Braund Francesca Bredin Gerome Breen Morris J Brown Ian N Bruce Jaswinder Bull Oliver S Burren John Burton Jake Byrnes Sian Caesar Chris M Clee Alison J Coffey John M C Connell Jason D Cooper Anna F Dominiczak Kate Downes Hazel E Drummond Darshna Dudakia Andrew Dunham Bernadette Ebbs Diana Eccles Sarah Edkins Cathryn Edwards Anna Elliot Paul Emery David M Evans Gareth Evans Steve Eyre Anne Farmer I Nicol Ferrier Lars Feuk Tomas Fitzgerald Edward Flynn Alistair Forbes Liz Forty Jayne A Franklyn Rachel M Freathy Polly Gibbs Paul Gilbert Omer Gokumen Katherine Gordon-Smith Emma Gray Elaine Green Chris J Groves Detelina Grozeva Rhian Gwilliam Anita Hall Naomi Hammond Matt Hardy Pile Harrison Neelam Hassanali Husam Hebaishi Sarah Hines Anne Hinks Graham A Hitman Lynne Hocking Eleanor Howard Philip Howard Joanna M M Howson Debbie Hughes Sarah Hunt John D Isaacs Mahim Jain Derek P Jewell Toby Johnson Jennifer D Jolley Ian R Jones Lisa A Jones George Kirov Cordelia F Langford Hana Lango-Allen G Mark Lathrop James Lee Kate L Lee Charlie Lees Kevin Lewis Cecilia M Lindgren Meeta Maisuria-Armer Julian Maller John Mansfield Paul Martin Dunecan C O Massey Wendy L McArdle Peter McGuffin Kirsten E McLay Alex Mentzer Michael L Mimmack Ann E Morgan Andrew P Morris Craig Mowat Simon Myers William Newman Elaine R Nimmo Michael C O'Donovan Abiodun Onipinla Ifejinelo Onyiah Nigel R Ovington Michael J Owen Kimmo Palin Kirstie Parnell David Pernet John R B Perry Anne Phillips Dalila Pinto Natalie J Prescott Inga Prokopenko Michael A Quail Suzanne Rafelt Nigel W Rayner Richard Redon David M Reid Renwick Susan M Ring Neil Robertson Ellie Russell David St Clair Jennifer G Sambrook Jeremy D Sanderson Helen Schuilenburg Carol E Scott Richard Scott Sheila Seal Sue Shaw-Hawkins Beverley M Shields Matthew J Simmonds Debbie J Smyth Elilan Somaskantharajah Katarina Spanova Sophia Steer Jonathan Stephens Helen E Stevens Millicent A Stone Zhan Su Deborah P M Symmons John R Thompson Wendy Thomson Mary E Travers Clare Turnbull Armand Valsesia Mark Walker Neil M Walker Chris Wallace Margaret Warren-Perry Nicholas A Watkins John Webster Michael N Weedon Anthony G Wilson Matthew Woodburn B Paul Wordsworth Allan H Young Eleftheria Zeggini Nigel P Carter Timothy M Frayling Charles Lee Gil McVean Patricia B Munroe Aarno Palotie Stephen J Sawcer Stephen W Scherer David P Strachan Chris Tyler-Smith Matthew A Brown Paul R Burton Mark J Caulfield Alastair Compston Martin Farrall Stephen C L Gough Alistair S Hall Andrew T Hattersley Adrian V S Hill Christopher G Mathew Marcus Pembrey Jack Satsangi Michael R Stratton Jane Worthington Panos Deloukas Audrey Duncanson Dominic P Kwiatkowski Mark I McCarthy Willem Ouwehand Miles Parkes Nazneen Rahman John A Todd Nilesh J Samani Peter Donnelly

Nature 2010 Apr;464(7289):713-20

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http://dx.doi.org/10.1038/nature08979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892339PMC
April 2010

Inversion variants in the human genome: role in disease and genome architecture.

Authors:
Lars Feuk

Genome Med 2010 Feb 12;2(2):11. Epub 2010 Feb 12.

Department of Genetics and Pathology, Rudbeck Laboratory, Uppsala University, 751 85 Uppsala, Sweden.

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http://genomemedicine.biomedcentral.com/articles/10.1186/gm1
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http://dx.doi.org/10.1186/gm132DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847702PMC
February 2010

ASHG 2008 Annual Meeting: from enormous cohorts to individual genomes.

Authors:
Lars Feuk

Genome Med 2009 Jan 21;1(1). Epub 2009 Jan 21.

Program in Genetics and Genomic Biology, The Hospital for Sick Children, MaRS Centre - East Tower, 101 College Street, Room 14-701, Toronto, Ontario, M5G 1L7 Canada.

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http://dx.doi.org/10.1186/gm9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2651579PMC
January 2009

Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.

Proc Natl Acad Sci U S A 2008 Aug 6;105(32):11264-9. Epub 2008 Aug 6.

Program in Genetics and Genome Biology, Departments of Medical Biophysics, Centre for Applied Genomics, and Division of Hematology/Oncology, Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.1073/pnas.0802970105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2516272PMC
August 2008

Copy number variation in the autism genome.

Authors:
Lars Feuk

Expert Opin Med Diagn 2008 Apr;2(4):417-28

The Hospital for Sick Children, Program in Genetics and Genome Biology, 101 College Street, MaRS - East Tower, Rm 14-701, Toronto, ON M5G 1L7, Canada +1 416 813 7654 ext 1358 ; +1 416 813 8319 ;

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http://dx.doi.org/10.1517/17530059.2.4.417DOI Listing
April 2008

Copy-number variation in control population cohorts.

Hum Mol Genet 2007 Oct;16 Spec No. 2:R168-73

The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddm241DOI Listing
October 2007

Challenges and standards in integrating surveys of structural variation.

Nat Genet 2007 Jul;39(7 Suppl):S7-15

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, 101 College Street, Room 14-701, Ontario M5G 1L7, Canada.

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http://www.nature.com/doifinder/10.1038/ng2093
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http://dx.doi.org/10.1038/ng2093DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2698291PMC
July 2007

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.

Authors:
Peter Szatmari Andrew D Paterson Lonnie Zwaigenbaum Wendy Roberts Jessica Brian Xiao-Qing Liu John B Vincent Jennifer L Skaug Ann P Thompson Lili Senman Lars Feuk Cheng Qian Susan E Bryson Marshall B Jones Christian R Marshall Stephen W Scherer Veronica J Vieland Christopher Bartlett La Vonne Mangin Rhinda Goedken Alberto Segre Margaret A Pericak-Vance Michael L Cuccaro John R Gilbert Harry H Wright Ruth K Abramson Catalina Betancur Thomas Bourgeron Christopher Gillberg Marion Leboyer Joseph D Buxbaum Kenneth L Davis Eric Hollander Jeremy M Silverman Joachim Hallmayer Linda Lotspeich James S Sutcliffe Jonathan L Haines Susan E Folstein Joseph Piven Thomas H Wassink Val Sheffield Daniel H Geschwind Maja Bucan W Ted Brown Rita M Cantor John N Constantino T Conrad Gilliam Martha Herbert Clara Lajonchere David H Ledbetter Christa Lese-Martin Janet Miller Stan Nelson Carol A Samango-Sprouse Sarah Spence Matthew State Rudolph E Tanzi Hilary Coon Geraldine Dawson Bernie Devlin Annette Estes Pamela Flodman Lambertus Klei William M McMahon Nancy Minshew Jeff Munson Elena Korvatska Patricia M Rodier Gerard D Schellenberg Moyra Smith M Anne Spence Chris Stodgell Ping Guo Tepper Ellen M Wijsman Chang-En Yu Bernadette Rogé Carine Mantoulan Kerstin Wittemeyer Annemarie Poustka Bärbel Felder Sabine M Klauck Claudia Schuster Fritz Poustka Sven Bölte Sabine Feineis-Matthews Evelyn Herbrecht Gabi Schmötzer John Tsiantis Katerina Papanikolaou Elena Maestrini Elena Bacchelli Francesca Blasi Simona Carone Claudio Toma Herman Van Engeland Maretha de Jonge Chantal Kemner Frederieke Koop Frederike Koop Marjolein Langemeijer Marjolijn Langemeijer Channa Hijmans Channa Hijimans Wouter G Staal Gillian Baird Patrick F Bolton Michael L Rutter Emma Weisblatt Jonathan Green Catherine Aldred Julie-Anne Wilkinson Andrew Pickles Ann Le Couteur Tom Berney Helen McConachie Anthony J Bailey Kostas Francis Gemma Honeyman Aislinn Hutchinson Jeremy R Parr Simon Wallace Anthony P Monaco Gabrielle Barnby Kazuhiro Kobayashi Janine A Lamb Ines Sousa Nuala Sykes Edwin H Cook Stephen J Guter Bennett L Leventhal Jeff Salt Catherine Lord Christina Corsello Vanessa Hus Daniel E Weeks Fred Volkmar Maïté Tauber Eric Fombonne Andy Shih Kacie J Meyer

Nat Genet 2007 Mar 18;39(3):319-28. Epub 2007 Feb 18.

Department of Psychiatry and Behavioural Neurosciences, McMaster University, Hamilton, Ontario L8N 3Z5, Canada.

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http://dx.doi.org/10.1038/ng1985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867008PMC
March 2007

Frequent appearance of novel protein-coding sequences by frameshift translation.

Genomics 2006 Dec 4;88(6):690-697. Epub 2006 Aug 4.

The Centre for Applied Genomics, Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada ON M5G 1L7; Department of Molecular and Medical Genetics, University of Toronto, Toronto, Canada ON M5S 1A8. Electronic address:

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http://dx.doi.org/10.1016/j.ygeno.2006.06.009DOI Listing
December 2006

Genome assembly comparison identifies structural variants in the human genome.

Nat Genet 2006 Dec 22;38(12):1413-8. Epub 2006 Nov 22.

Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, University of Toronto and The Centre for Applied Genomics, MaRS Centre, Toronto, Ontario, M5G 1L7, Canada.

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http://www.nature.com/articles/ng1921
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http://dx.doi.org/10.1038/ng1921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674632PMC
December 2006

Copy number variation: new insights in genome diversity.

Genome Res 2006 Aug 29;16(8):949-61. Epub 2006 Jun 29.

Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1101/gr.3677206DOI Listing
August 2006

Strategies for the detection of copy number and other structural variants in the human genome.

Hum Genomics 2006 Jun;2(6):403-14

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, University of Toronto, Toronto, Ontario, Canada.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525157PMC
http://dx.doi.org/10.1186/1479-7364-2-6-403DOI Listing
June 2006

Structural variants: changing the landscape of chromosomes and design of disease studies.

Hum Mol Genet 2006 Apr;15 Spec No 1:R57-66

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada.

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http://academic.oup.com/hmg/article/15/suppl_1/R57/632718/St
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http://dx.doi.org/10.1093/hmg/ddl057DOI Listing
April 2006

Towards compendia of negative genetic association studies: an example for Alzheimer disease.

Hum Genet 2006 Mar 8;119(1-2):29-37. Epub 2005 Dec 8.

Center for Genomics and Bioinformatics, Karolinska Institute, Berzeliusvag 35, 171 77 Stockholm, Sweden.

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http://dx.doi.org/10.1007/s00439-005-0078-9DOI Listing
March 2006

Longitudinal memory performance during normal aging: twin association models of APOE and other Alzheimer candidate genes.

Behav Genet 2006 Mar 10;36(2):185-94. Epub 2006 Jan 10.

Department of Psychology, University of California--Riverside, 92521, USA.

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http://link.springer.com/10.1007/s10519-005-9027-6
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http://dx.doi.org/10.1007/s10519-005-9027-6DOI Listing
March 2006

Structural variation in the human genome.

Nat Rev Genet 2006 Feb;7(2):85-97

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Department of Molecular and Medical Genetics, University of Toronto, Ontario, Canada.

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http://www.nature.com/doifinder/10.1038/nrg1767
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http://dx.doi.org/10.1038/nrg1767DOI Listing
February 2006

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

PLoS Genet 2005 Oct 28;1(4):e56. Epub 2005 Oct 28.

The Centre for Applied Genomics, Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.plos.org/10.1371/journal.pgen.0010056
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http://dx.doi.org/10.1371/journal.pgen.0010056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1270012PMC
October 2005

Mutation screening of a haplotype block around the insulin degrading enzyme gene and association with Alzheimer's disease.

Am J Med Genet B Neuropsychiatr Genet 2005 Jul;136B(1):69-71

Center for Genomics and Bioinformatics, Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.1002/ajmg.b.30172DOI Listing
July 2005

Linkage disequilibrium patterns vary substantially among populations.

Eur J Hum Genet 2005 May;13(5):677-86

Center for Genomics and Bioinformatics, Karolinska Institute, Berzelius väg 35, Stockholm 17177, Sweden.

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http://dx.doi.org/10.1038/sj.ejhg.5201368DOI Listing
May 2005

Detection of large-scale variation in the human genome.

Nat Genet 2004 Sep 1;36(9):949-51. Epub 2004 Aug 1.

Department of Pathology, Brigham and Women's Hospital, 20 Shattuck St., Thorn 6-28, Boston, Massachusetts 02115, USA.

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http://www.nature.com/articles/ng1416
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September 2004

Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease.

Hum Genet 2004 May 18;114(6):581-7. Epub 2004 Mar 18.

Department of Clinical Neuroscience, Sahlgrenska University Hospital, Göteborg University, Göteborg, Sweden.

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http://dx.doi.org/10.1007/s00439-004-1107-9DOI Listing
May 2004

Genetic variation in a haplotype block spanning IDE influences Alzheimer disease.

Hum Mutat 2003 Nov;22(5):363-71

Center for Genomics and Bioinformatics, Karolinska Institute, Stockholm, Sweden.

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http://doi.wiley.com/10.1002/humu.10282
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http://dx.doi.org/10.1002/humu.10282DOI Listing
November 2003

Haplotypes extending across ACE are associated with Alzheimer's disease.

Hum Mol Genet 2003 Apr;12(8):859-67

Department of Care of the Elderly, University of Bristol, The John James Building, Frenchay Hospital, Bristol, UK.

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http://dx.doi.org/10.1093/hmg/ddg094DOI Listing
April 2003

Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease.

Hum Mutat 2003 Jan;21(1):53-60

Center for Genomics and Bioinformatics, Karolinska Institute, Stockholm, Sweden.

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http://dx.doi.org/10.1002/humu.10148DOI Listing
January 2003