Publications by authors named "John J Connolly"

37Publications

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

Int J Cardiol 2020 01 19;298:107-113. 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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January 2020

Novel locus for atopic dermatitis in African Americans and replication in European Americans.

J Allergy Clin Immunol 2019 03 9;143(3):1229-1231. Epub 2018 Nov 9.

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

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March 2019

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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November 2016

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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December 2016

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

BMC Musculoskelet Disord 2016 Feb 16;17:80. Epub 2016 Feb 16.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, 3615 Civic center Blvd, Philadelphia, PA, 19104, USA.

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February 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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January 2016

Etiology of autism spectrum disorder: a genomics perspective.

Curr Psychiatry Rep 2014 Nov;16(11):501

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia (CHOP), Philadelphia, PA, 19104, USA,

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November 2014

Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes.

Front Genet 2014 12;5:96. Epub 2014 May 12.

Center for Applied Genomics, The 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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May 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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June 2014

Practical challenges in integrating genomic data into the electronic health record.

Genet Med 2013 Oct 26;15(10):772-8. Epub 2013 Sep 26.

Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA.

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October 2013

Role of cytokines in systemic lupus erythematosus: recent progress from GWAS and sequencing.

J Biomed Biotechnol 2012 10;2012:798924. Epub 2012 May 10.

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

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December 2012

The impact of genomics on pediatric research and medicine.

Pediatrics 2012 Jun 7;129(6):1150-60. Epub 2012 May 7.

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

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June 2012

The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis.

Authors:
Daniel I Swerdlow Michael V Holmes Karoline B Kuchenbaecker Jorgen E L Engmann Tina Shah Reecha Sofat Yiran Guo Christina Chung Anne Peasey Roman Pfister Simon P Mooijaart Helen A Ireland Maarten Leusink Claudia Langenberg Ka Wah Li Jutta Palmen Philip Howard Jackie A Cooper Fotios Drenos John Hardy Michael A Nalls Yun Rose Li Gordon Lowe Marlene Stewart Suzette J Bielinski Julian Peto Nicholas J Timpson John Gallacher Malcolm Dunlop Richard Houlston Ian Tomlinson Ioanna Tzoulaki Jian'an Luan Jolanda M A Boer Nita G Forouhi N Charlotte Onland-Moret Yvonne T van der Schouw Renate B Schnabel Jaroslav A Hubacek Ruzena Kubinova Migle Baceviciene Abdonas Tamosiunas Andrzej Pajak Roman Topor-Madry Sofia Malyutina Damiano Baldassarre Bengt Sennblad Elena Tremoli Ulf de Faire Luigi Ferrucci Stefania Bandenelli Toshiko Tanaka James F Meschia Andrew Singleton Gerjan Navis Irene Mateo Leach Stephan J L Bakker Ron T Gansevoort Ian Ford Stephen E Epstein Mary Susan Burnett Joe M Devaney J Wouter Jukema Rudi G J Westendorp Gert Jan de Borst Yolanda van der Graaf Pim A de Jong Anke-Hilse Mailand-van der Zee Olaf H Klungel Anthonius de Boer Pieter A Doevendans Jeffrey W Stephens Charles B Eaton Jennifer G Robinson JoAnn E Manson F Gerry Fowkes Timonthy M Frayling Jackie F Price Peter H Whincup Richard W Morris Debbie A Lawlor George Davey Smith Yoav Ben-Shlomo Susan Redline Leslie A Lange Meena Kumari Nick J Wareham W M Monique Verschuren Emelia J Benjamin John C Whittaker Anders Hamsten Frank Dudbridge J A Chris Delaney Andrew Wong Diana Kuh Rebecca Hardy Berta Almoguera Castillo John J Connolly Pim van der Harst Eric J Brunner Michael G Marmot Christina L Wassel Steve E Humphries Philippa J Talmud Mika Kivimaki Folkert W Asselbergs Mikhail Voevoda Martin Bobak Hynek Pikhart James G Wilson Hakon Hakonarson Alex P Reiner Brendan J Keating Naveed Sattar Aroon D Hingorani Juan Pablo Casas

Lancet 2012 Mar 14;379(9822):1214-24. Epub 2012 Mar 14.

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March 2012

Rare genomic deletions and duplications and their role in neurodevelopmental disorders.

Curr Top Behav Neurosci 2012 ;12:345-60

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

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January 2015