Patrick M Sleiman

Patrick M Sleiman

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Patrick M Sleiman

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Drug-resistant epilepsy classified by a phenotyping algorithm associates with NTRK2.

Acta Neurol Scand 2019 Sep 20;140(3):169-176. Epub 2019 Jun 20.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1111/ane.13115DOI Listing
September 2019

Target Genes of Autism Risk Loci in Brain Frontal Cortex.

Front Genet 2019 9;10:707. Epub 2019 Aug 9.

Department of Cell Biology, 2011 Collaborative Innovation Center of Tianjin for Medical Epigenetics, Tianjin Key Laboratory of Medical Epigenetics, Tianjin Medical University, Tianjin, China.

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http://dx.doi.org/10.3389/fgene.2019.00707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6696877PMC
August 2019

CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease.

Int J Cardiol 2019 Jul 19. Epub 2019 Jul 19.

The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2019.07.058DOI Listing
July 2019

Common and Rare Genetic Risk Factors Converge in Protein Interaction Networks Underlying Schizophrenia.

Front Genet 2018 28;9:434. Epub 2018 Sep 28.

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, United States.

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http://dx.doi.org/10.3389/fgene.2018.00434DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172705PMC
September 2018

The Long Noncoding RNA Landscape in Amygdala Tissues from Schizophrenia Patients.

EBioMedicine 2018 Aug 1;34:171-181. Epub 2018 Aug 1.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA; Division of Human Genetics, Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ebiom.2018.07.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6116417PMC
August 2018

Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.

Hum Mutat 2017 05 10;38(5):507-510. Epub 2017 Mar 10.

The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/humu.23188DOI Listing
May 2017

Mendelian randomization analysis demonstrates that low vitamin D is unlikely causative for pediatric asthma.

J Allergy Clin Immunol 2016 12 20;138(6):1747-1749.e4. Epub 2016 Aug 20.

Center for Applied Genomics, the Children's Hospital of Philadelphia, Philadelphia, Pa; Division of Pulmonary Medicine, the Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.06.056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5526345PMC
December 2016

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.

BMC Musculoskelet Disord 2016 11 9;17(1):462. Epub 2016 Nov 9.

Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s12891-016-1320-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103422PMC
November 2016

Compound heterozygote mutations in SPG7 in a family with adult-onset primary lateral sclerosis.

Neurol Genet 2016 Apr 3;2(2):e60. Epub 2016 Mar 3.

Department of Histology and Embryology (Y.Y., L.Z.), Hebei Medical University, China; Division of Neuromuscular Medicine (Y.Y., K.A., E.R., J.H.N., H.-X.D., N.S., T.S.), Davee Department of Neurology and Clinical Neurosciences and Department of Pharmacology (T.J.L.), Northwestern University Feinberg School of Medicine, Chicago, IL; Department of Neurology (D.L.) and Department of Pediatrics (P.M.A.S.), the Perelman School of Medicine, University of Pennsylvania, Philadelphia; and Department of Neurology (K.A.S.) and The Center for Applied Genomics (P.M.A.S.), The Children's Hospital of Philadelphia, PA.

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http://dx.doi.org/10.1212/NXG.0000000000000060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4830188PMC
April 2016

The Philadelphia Neurodevelopmental Cohort: A publicly available resource for the study of normal and abnormal brain development in youth.

Neuroimage 2016 Jan 31;124(Pt B):1115-1119. Epub 2015 Mar 31.

Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.neuroimage.2015.03.056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591095PMC
January 2016

Genome-wide association study of serum minerals levels in children of different ethnic background.

PLoS One 2015 17;10(4):e0123499. Epub 2015 Apr 17.

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0123499PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401557PMC
January 2016

The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease.

Alzheimers Dement 2015 Dec 30;11(12):1407-1416. Epub 2015 Apr 30.

Platform for Genome Analytics, Institutes of Neurogenetics & Integrative and Experimental Genomics, University of Lübeck, Lübeck, Germany; Department of Vertebrate Genomics, Max Planck Institute for Molecular Genetics, Berlin, Germany; Neuroepidemiology and Ageing Research Unit, School of Public Health, Faculty of Medicine, The Imperial College of Science, Technology, and Medicine, London, UK.

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http://dx.doi.org/10.1016/j.jalz.2014.12.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627856PMC
December 2015

The genetic basis of eosinophilic esophagitis.

Best Pract Res Clin Gastroenterol 2015 Oct 11;29(5):701-707. Epub 2015 Sep 11.

The Center for Applied Genomics, The Children's Hospital of Philadelphia, PA, USA; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.bpg.2015.09.003DOI Listing
October 2015

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.

J Immunol 2015 Aug 17;195(4):1599-607. Epub 2015 Jul 17.

Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104

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http://dx.doi.org/10.4049/jimmunol.1402310DOI Listing
August 2015

GWAS identifies four novel eosinophilic esophagitis loci.

Nat Commun 2014 Nov 19;5:5593. Epub 2014 Nov 19.

1] The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA [2] Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/ncomms6593DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4238044PMC
November 2014

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.

Front Genet 2014 18;5:51. Epub 2014 Mar 18.

The Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia, PA, USA ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

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http://dx.doi.org/10.3389/fgene.2014.00051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957100PMC
June 2014

Gene network analysis in a pediatric cohort identifies novel lung function genes.

PLoS One 2013 2;8(9):e72899. Epub 2013 Sep 2.

Division of Pulmonary Medicine and Cystic Fibrosis Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0072899PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759429PMC
April 2014

Thymic stromal lymphopoietin-mediated extramedullary hematopoiesis promotes allergic inflammation.

Immunity 2013 Dec;39(6):1158-70

Department of Microbiology, Institute for Immunology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Pathobiology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.immuni.2013.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959827PMC
December 2013

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.04.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675260PMC
June 2013

A genome-wide association meta-analysis identifies new childhood obesity loci.

Nat Genet 2012 May;44(5):526-31

Center for Applied Genomics, Abramson Research Center, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/ng.2247DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370100PMC
May 2012

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.

Authors:
Lavinia Paternoster Marie Standl Chih-Mei Chen Adaikalavan Ramasamy Klaus Bønnelykke Liesbeth Duijts Manuel A Ferreira Alexessander Couto Alves Jacob P Thyssen Eva Albrecht Hansjörg Baurecht Bjarke Feenstra Patrick M A Sleiman Pirro Hysi Nicole M Warrington Ivan Curjuric Ronny Myhre John A Curtin Maria M Groen-Blokhuis Marjan Kerkhof Annika Sääf Andre Franke David Ellinghaus Regina Fölster-Holst Emmanouil Dermitzakis Stephen B Montgomery Holger Prokisch Katharina Heim Anna-Liisa Hartikainen Anneli Pouta Juha Pekkanen Alexandra I F Blakemore Jessica L Buxton Marika Kaakinen David L Duffy Pamela A Madden Andrew C Heath Grant W Montgomery Philip J Thompson Melanie C Matheson Peter Le Souëf Beate St Pourcain George Davey Smith John Henderson John P Kemp Nicholas J Timpson Panos Deloukas Susan M Ring H-Erich Wichmann Martina Müller-Nurasyid Natalija Novak Norman Klopp Elke Rodríguez Wendy McArdle Allan Linneberg Torkil Menné Ellen A Nohr Albert Hofman André G Uitterlinden Cornélia M van Duijn Fernando Rivadeneira Johan C de Jongste Ralf J P van der Valk Matthias Wjst Rain Jogi Frank Geller Heather A Boyd Jeffrey C Murray Cecilia Kim Frank Mentch Michael March Massimo Mangino Tim D Spector Veronique Bataille Craig E Pennell Patrick G Holt Peter Sly Carla M T Tiesler Elisabeth Thiering Thomas Illig Medea Imboden Wenche Nystad Angela Simpson Jouke-Jan Hottenga Dirkje Postma Gerard H Koppelman Henriette A Smit Cilla Söderhäll Bo Chawes Eskil Kreiner-Møller Hans Bisgaard Erik Melén Dorret I Boomsma Adnan Custovic Bo Jacobsson Nicole M Probst-Hensch Lyle J Palmer Daniel Glass Hakon Hakonarson Mads Melbye Deborah L Jarvis Vincent W V Jaddoe Christian Gieger David P Strachan Nicholas G Martin Marjo-Riitta Jarvelin Joachim Heinrich David M Evans Stephan Weidinger

Nat Genet 2011 Dec 25;44(2):187-92. Epub 2011 Dec 25.

Medical Research Council Centre for Causal Analyses in Translational Epidemiology, University of Bristol, Bristol, UK.

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http://www.tweelingenregister.org/nederlands/verslaggeving/N
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http://www.nature.com/doifinder/10.1038/ng.1017
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http://dx.doi.org/10.1038/ng.1017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272375PMC
December 2011

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Authors:
Stephen Sawcer Garrett Hellenthal Matti Pirinen Chris C A Spencer Nikolaos A Patsopoulos Loukas Moutsianas Alexander Dilthey Zhan Su Colin Freeman Sarah E Hunt Sarah Edkins Emma Gray David R Booth Simon C Potter An Goris Gavin Band Annette Bang Oturai Amy Strange Janna Saarela Céline Bellenguez Bertrand Fontaine Matthew Gillman Bernhard Hemmer Rhian Gwilliam Frauke Zipp Alagurevathi Jayakumar Roland Martin Stephen Leslie Stanley Hawkins Eleni Giannoulatou Sandra D'alfonso Hannah Blackburn Filippo Martinelli Boneschi Jennifer Liddle Hanne F Harbo Marc L Perez Anne Spurkland Matthew J Waller Marcin P Mycko Michelle Ricketts Manuel Comabella Naomi Hammond Ingrid Kockum Owen T McCann Maria Ban Pamela Whittaker Anu Kemppinen Paul Weston Clive Hawkins Sara Widaa John Zajicek Serge Dronov Neil Robertson Suzannah J Bumpstead Lisa F Barcellos Rathi Ravindrarajah Roby Abraham Lars Alfredsson Kristin Ardlie Cristin Aubin Amie Baker Katharine Baker Sergio E Baranzini Laura Bergamaschi Roberto Bergamaschi Allan Bernstein Achim Berthele Mike Boggild Jonathan P Bradfield David Brassat Simon A Broadley Dorothea Buck Helmut Butzkueven Ruggero Capra William M Carroll Paola Cavalla Elisabeth G Celius Sabine Cepok Rosetta Chiavacci Françoise Clerget-Darpoux Katleen Clysters Giancarlo Comi Mark Cossburn Isabelle Cournu-Rebeix Mathew B Cox Wendy Cozen Bruce A C Cree Anne H Cross Daniele Cusi Mark J Daly Emma Davis Paul I W de Bakker Marc Debouverie Marie Beatrice D'hooghe Katherine Dixon Rita Dobosi Bénédicte Dubois David Ellinghaus Irina Elovaara Federica Esposito Claire Fontenille Simon Foote Andre Franke Daniela Galimberti Angelo Ghezzi Joseph Glessner Refujia Gomez Olivier Gout Colin Graham Struan F A Grant Franca Rosa Guerini Hakon Hakonarson Per Hall Anders Hamsten Hans-Peter Hartung Rob N Heard Simon Heath Jeremy Hobart Muna Hoshi Carmen Infante-Duarte Gillian Ingram Wendy Ingram Talat Islam Maja Jagodic Michael Kabesch Allan G Kermode Trevor J Kilpatrick Cecilia Kim Norman Klopp Keijo Koivisto Malin Larsson Mark Lathrop Jeannette S Lechner-Scott Maurizio A Leone Virpi Leppä Ulrika Liljedahl Izaura Lima Bomfim Robin R Lincoln Jenny Link Jianjun Liu Aslaug R Lorentzen Sara Lupoli Fabio Macciardi Thomas Mack Mark Marriott Vittorio Martinelli Deborah Mason Jacob L McCauley Frank Mentch Inger-Lise Mero Tania Mihalova Xavier Montalban John Mottershead Kjell-Morten Myhr Paola Naldi William Ollier Alison Page Aarno Palotie Jean Pelletier Laura Piccio Trevor Pickersgill Fredrik Piehl Susan Pobywajlo Hong L Quach Patricia P Ramsay Mauri Reunanen Richard Reynolds John D Rioux Mariaemma Rodegher Sabine Roesner Justin P Rubio Ina-Maria Rückert Marco Salvetti Erika Salvi Adam Santaniello Catherine A Schaefer Stefan Schreiber Christian Schulze Rodney J Scott Finn Sellebjerg Krzysztof W Selmaj David Sexton Ling Shen Brigid Simms-Acuna Sheila Skidmore Patrick M A Sleiman Cathrine Smestad Per Soelberg Sørensen Helle Bach Søndergaard Jim Stankovich Richard C Strange Anna-Maija Sulonen Emilie Sundqvist Ann-Christine Syvänen Francesca Taddeo Bruce Taylor Jenefer M Blackwell Pentti Tienari Elvira Bramon Ayman Tourbah Matthew A Brown Ewa Tronczynska Juan P Casas Niall Tubridy Aiden Corvin Jane Vickery Janusz Jankowski Pablo Villoslada Hugh S Markus Kai Wang Christopher G Mathew James Wason Colin N A Palmer H-Erich Wichmann Robert Plomin Ernest Willoughby Anna Rautanen Juliane Winkelmann Michael Wittig Richard C Trembath Jacqueline Yaouanq Ananth C Viswanathan Haitao Zhang Nicholas W Wood Rebecca Zuvich Panos Deloukas Cordelia Langford Audrey Duncanson Jorge R Oksenberg Margaret A Pericak-Vance Jonathan L Haines Tomas Olsson Jan Hillert Adrian J Ivinson Philip L De Jager Leena Peltonen Graeme J Stewart David A Hafler Stephen L Hauser Gil McVean Peter Donnelly Alastair Compston

Nature 2011 Aug 10;476(7359):214-9. Epub 2011 Aug 10.

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http://dx.doi.org/10.1038/nature10251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3182531PMC
August 2011

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

Authors:
Matthew B Lanktree Yiran Guo Muhammed Murtaza Joseph T Glessner Swneke D Bailey N Charlotte Onland-Moret Guillaume Lettre Halit Ongen Ramakrishnan Rajagopalan Toby Johnson Haiqing Shen Christopher P Nelson Norman Klopp Jens Baumert Sandosh Padmanabhan Nathan Pankratz James S Pankow Sonia Shah Kira Taylor John Barnard Bas J Peters Cliona M Maloney Maximilian T Lobmeyer Alice Stanton M Hadi Zafarmand Simon P R Romaine Amar Mehta Erik P A van Iperen Yan Gong Tom S Price Erin N Smith Cecilia E Kim Yun R Li Folkert W Asselbergs Larry D Atwood Kristian M Bailey Deepak Bhatt Florianne Bauer Elijah R Behr Tushar Bhangale Jolanda M A Boer Bernhard O Boehm Jonathan P Bradfield Morris Brown Peter S Braund Paul R Burton Cara Carty Hareesh R Chandrupatla Wei Chen John Connell Chrysoula Dalgeorgou Anthonius de Boer Fotios Drenos Clara C Elbers James C Fang Caroline S Fox Edward C Frackelton Barry Fuchs Clement E Furlong Quince Gibson Christian Gieger Anuj Goel Diederik E Grobbee Claire Hastie Philip J Howard Guan-Hua Huang W Craig Johnson Qing Li Marcus E Kleber Barbara E K Klein Ronald Klein Charles Kooperberg Bonnie Ky Andrea Lacroix Paul Lanken Mark Lathrop Mingyao Li Vanessa Marshall Olle Melander Frank D Mentch Nuala J Meyer Keri L Monda Alexandre Montpetit Gurunathan Murugesan Karen Nakayama Dave Nondahl Abiodun Onipinla Suzanne Rafelt Stephen J Newhouse F George Otieno Sanjey R Patel Mary E Putt Santiago Rodriguez Radwan N Safa Douglas B Sawyer Pamela J Schreiner Claire Simpson Suthesh Sivapalaratnam Sathanur R Srinivasan Christine Suver Gary Swergold Nancy K Sweitzer Kelly A Thomas Barbara Thorand Nicholas J Timpson Sam Tischfield Martin Tobin Maciej Tomaszewski Maciej Tomaszweski W M Monique Verschuren Chris Wallace Bernhard Winkelmann Haitao Zhang Dongling Zheng Li Zhang Joseph M Zmuda Robert Clarke Anthony J Balmforth John Danesh Ian N Day Nicholas J Schork Paul I W de Bakker Christian Delles David Duggan Aroon D Hingorani Joel N Hirschhorn Marten H Hofker Steve E Humphries Mika Kivimaki Debbie A Lawlor Kandice Kottke-Marchant Jessica L Mega Braxton D Mitchell David A Morrow Jutta Palmen Susan Redline Denis C Shields Alan R Shuldiner Patrick M Sleiman George Davey Smith Martin Farrall Yalda Jamshidi David C Christiani Juan P Casas Alistair S Hall Pieter A Doevendans Jason D Christie Gerald S Berenson Sarah S Murray Thomas Illig Gerald W Dorn Thomas P Cappola Eric Boerwinkle Peter Sever Daniel J Rader Muredach P Reilly Mark Caulfield Philippa J Talmud Eric Topol James C Engert Kai Wang Anna Dominiczak Anders Hamsten Sean P Curtis Roy L Silverstein Leslie A Lange Marc S Sabatine Mieke Trip Danish Saleheen John F Peden Karen J Cruickshanks Winfried März Jeffrey R O'Connell Olaf H Klungel Cisca Wijmenga Anke Hilse Maitland-van der Zee Eric E Schadt Julie A Johnson Gail P Jarvik George J Papanicolaou Struan F A Grant Patricia B Munroe Kari E North Nilesh J Samani Wolfgang Koenig Tom R Gaunt Sonia S Anand Yvonne T van der Schouw Nicole Soranzo Garret A Fitzgerald Alex Reiner Robert A Hegele Hakon Hakonarson Brendan J Keating

Am J Hum Genet 2011 Jan 30;88(1):6-18. Epub 2010 Dec 30.

Department of Medicine and Biochemistry, University of Western Ontario, London, Ontario, N6A 5C1, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2010.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014369PMC
January 2011

The genetics of asthma and allergic disorders.

Discov Med 2011 Jan;11(56):35-45

The Abramson Research Center of the Joseph Stokes Jr. Research Institute, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.

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January 2011

Recent advances in the genetics and genomics of asthma and related traits.

Curr Opin Pediatr 2010 Jun;22(3):307-12

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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https://insights.ovid.com/crossref?an=00008480-201006000-000
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http://dx.doi.org/10.1097/MOP.0b013e328339553dDOI Listing
June 2010

Mendelian randomization in the era of genomewide association studies.

Clin Chem 2010 May 11;56(5):723-8. Epub 2010 Mar 11.

Center for Applied Genomics, The Children's Hospital of Philadelphia Research Institute, Philadelphia, PA 19104, USA.

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2009.141564
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http://dx.doi.org/10.1373/clinchem.2009.141564DOI Listing
May 2010

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Authors:
Vivianna M Van Deerlin Patrick M A Sleiman Maria Martinez-Lage Alice Chen-Plotkin Li-San Wang Neill R Graff-Radford Dennis W Dickson Rosa Rademakers Bradley F Boeve Murray Grossman Steven E Arnold David M A Mann Stuart M Pickering-Brown Harro Seelaar Peter Heutink John C van Swieten Jill R Murrell Bernardino Ghetti Salvatore Spina Jordan Grafman John Hodges Maria Grazia Spillantini Sid Gilman Andrew P Lieberman Jeffrey A Kaye Randall L Woltjer Eileen H Bigio Marsel Mesulam Safa Al-Sarraj Claire Troakes Roger N Rosenberg Charles L White Isidro Ferrer Albert Lladó Manuela Neumann Hans A Kretzschmar Christine Marie Hulette Kathleen A Welsh-Bohmer Bruce L Miller Ainhoa Alzualde Adolfo Lopez de Munain Ann C McKee Marla Gearing Allan I Levey James J Lah John Hardy Jonathan D Rohrer Tammaryn Lashley Ian R A Mackenzie Howard H Feldman Ronald L Hamilton Steven T Dekosky Julie van der Zee Samir Kumar-Singh Christine Van Broeckhoven Richard Mayeux Jean Paul G Vonsattel Juan C Troncoso Jillian J Kril John B J Kwok Glenda M Halliday Thomas D Bird Paul G Ince Pamela J Shaw Nigel J Cairns John C Morris Catriona Ann McLean Charles DeCarli William G Ellis Stefanie H Freeman Matthew P Frosch John H Growdon Daniel P Perl Mary Sano David A Bennett Julie A Schneider Thomas G Beach Eric M Reiman Bryan K Woodruff Jeffrey Cummings Harry V Vinters Carol A Miller Helena C Chui Irina Alafuzoff Päivi Hartikainen Danielle Seilhean Douglas Galasko Eliezer Masliah Carl W Cotman M Teresa Tuñón M Cristina Caballero Martínez David G Munoz Steven L Carroll Daniel Marson Peter F Riederer Nenad Bogdanovic Gerard D Schellenberg Hakon Hakonarson John Q Trojanowski Virginia M-Y Lee

Nat Genet 2010 Mar 14;42(3):234-9. Epub 2010 Feb 14.

[1] Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA. [2] These authors contributed equally to this work.

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http://dx.doi.org/10.1038/ng.536DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828525PMC
March 2010

Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson's disease.

Nat Cell Biol 2009 Nov 4;11(11):1370-5. Epub 2009 Oct 4.

Institut de Pharmacologie Moléculaire et Cellulaire, UMR6097 CNRS/UNSA, Equipe labellisée Fondation pour la Recherche Médicale, 660 Route des Lucioles, 06560, Valbonne, France.

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http://dx.doi.org/10.1038/ncb1981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2952934PMC
November 2009

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease.

Neurobiol Aging 2009 Sep 26;30(9):1477-82. Epub 2007 Dec 26.

Reta Lila Weston Institute of Neurological Studies, UCL Institute of Neurology, London, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2007.11.019DOI Listing
September 2009

Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood.

Am J Respir Crit Care Med 2009 Feb 21;179(3):179-85. Epub 2008 Nov 21.

Copenhagen Studies on Asthma in Childhood, The Danish Paediatrics Asthma Centre, Faculty of Health Sciences, University of Copenhagen, Gentofte Hospital, Ledreborg Alle 34, DK-2900 Gentofte, Copenhagen, Denmark.

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http://www.atsjournals.org/doi/abs/10.1164/rccm.200809-1436O
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http://dx.doi.org/10.1164/rccm.200809-1436OCDOI Listing
February 2009

The coenzyme Q10 status of the brain regions of Parkinson's disease patients.

Neurosci Lett 2008 Dec 30;447(1):17-9. Epub 2008 Sep 30.

Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1016/j.neulet.2008.09.069DOI Listing
December 2008

Expanding the phenotypes of the Pro56Ser VAPB mutation: proximal SMA with dysautonomia.

Muscle Nerve 2006 Dec;34(6):731-9

Department of Neurology, School of Medicine of Ribeirão Preto, University of São Paulo, Av. Bandeirantes, 3900 Ribeirão Preto, São Paulo, 14049-900, Brazil.

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http://dx.doi.org/10.1002/mus.20657DOI Listing
December 2006

NR4A2 genetic variation in sporadic Parkinson's disease: a genewide approach.

Mov Disord 2006 Nov;21(11):1960-3

Department of Molecular Neuroscience, Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.21018DOI Listing
November 2006

Expanding insights of mitochondrial dysfunction in Parkinson's disease.

Nat Rev Neurosci 2006 Mar;7(3):207-19

Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1038/nrn1868DOI Listing
March 2006

A common LRRK2 mutation in idiopathic Parkinson's disease.

Lancet 2005 Jan 29-Feb 4;365(9457):415-6

Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1016/S0140-6736(05)17830-1DOI Listing
February 2005

PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism.

Lancet Neurol 2004 Nov;3(11):652-62

Department of Molecular Neuroscience, Institute of Neurology, and National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1016/S1474-4422(04)00905-6DOI Listing
November 2004

Genetic causes of Parkinson's disease: UCHL-1.

Cell Tissue Res 2004 Oct 19;318(1):189-94. Epub 2004 Jun 19.

Department of Molecular Neuroscience, Institute of Neurology, Queen Square, WC1N 3BG, London, UK.

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http://link.springer.com/10.1007/s00441-004-0917-3
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http://dx.doi.org/10.1007/s00441-004-0917-3DOI Listing
October 2004

Causes of Parkinson's disease: genetics of DJ-1.

Cell Tissue Res 2004 Oct 26;318(1):185-8. Epub 2004 Jun 26.

Department of Molecular Neuroscience, Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1007/s00441-004-0922-6DOI Listing
October 2004

Population genetics for target identification.

Drug Discov Today Technol 2004 Sep;1(1):69-74

Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK WC1N 3BG. Electronic

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http://dx.doi.org/10.1016/j.ddtec.2004.08.012DOI Listing
September 2004

The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism.

Ann Neurol 2004 Sep;56(3):329-35

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1002/ana.20206DOI Listing
September 2004

The role of pathogenic DJ-1 mutations in Parkinson's disease.

Ann Neurol 2003 Sep;54(3):283-6

Department of Molecular Neuroscience, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1002/ana.10675DOI Listing
September 2003