Berta Almoguera

Berta Almoguera

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Berta Almoguera

Berta Almoguera

Publications by authors named "Berta Almoguera"

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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

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

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

J Allergy Clin Immunol 2019 Mar 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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http://dx.doi.org/10.1016/j.jaci.2018.10.038DOI Listing
March 2019

Toward the Mutational Landscape of Autosomal Dominant Retinitis Pigmentosa: A Comprehensive Analysis of 258 Spanish Families.

Invest Ophthalmol Vis Sci 2018 05;59(6):2345-2354

Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.

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http://dx.doi.org/10.1167/iovs.18-23854DOI Listing
May 2018

Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.

Invest Ophthalmol Vis Sci 2017 02;58(2):1045-1053

Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain 2Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.

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http://dx.doi.org/10.1167/iovs.16-20515DOI Listing
February 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 between Genetic Polymorphisms and Response to Anti-TNFs in Patients with Inflammatory Bowel Disease.

Int J Mol Sci 2016 Feb 6;17(2):225. Epub 2016 Feb 6.

Clinical Pharmacology Service, Hospital Universitario de la Princesa, Instituto de Investigación Sanitaria la Princesa (IP), Madrid 28006, Spain.

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http://dx.doi.org/10.3390/ijms17020225DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4783957PMC
February 2016

Mendelian randomization of blood lipids for coronary heart disease.

Eur Heart J 2015 Mar 27;36(9):539-50. Epub 2014 Jan 27.

Genetic Epidemiology Group, Institute of Cardiovacular Science, Faculty of Population Healh Sciences, University College London, 1-19 Torrington Place, London WC1E 6BT, UK Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, Keppel Street, London WC1E 7HT, UK.

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https://eurheartj.oxfordjournals.org/content/ehj/36/9/539.fu
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http://eurheartj.oxfordjournals.org/cgi/doi/10.1093/eurheart
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http://dx.doi.org/10.1093/eurheartj/eht571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4344957PMC
March 2015

IBC CARe microarray allelic population prevalences in an American Indian population.

PLoS One 2013 6;8(9):e75080. Epub 2013 Sep 6.

Science Department, Turtle Mountain Community College, Belcourt, North Dakota, United States of America ; School of Medicine and Health Sciences, University of North Dakota, Grand Forks, North Dakota, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0075080PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3765406PMC
July 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

Assessing the functional consequence of loss of function variants using electronic medical record and large-scale genomics consortium efforts.

Front Genet 2014 29;5:105. Epub 2014 Apr 29.

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

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http://dx.doi.org/10.3389/fgene.2014.00105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4010747PMC
May 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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http://dx.doi.org/10.3389/fgene.2014.00096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4026736PMC
May 2014

Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.

Authors:
Vinicius Tragante Michael R Barnes Santhi K Ganesh Matthew B Lanktree Wei Guo Nora Franceschini Erin N Smith Toby Johnson Michael V Holmes Sandosh Padmanabhan Konrad J Karczewski Berta Almoguera John Barnard Jens Baumert Yen-Pei Christy Chang Clara C Elbers Martin Farrall Mary E Fischer Tom R Gaunt Johannes M I H Gho Christian Gieger Anuj Goel Yan Gong Aaron Isaacs Marcus E Kleber Irene Mateo Leach Caitrin W McDonough Matthijs F L Meijs Olle Melander Christopher P Nelson Ilja M Nolte Nathan Pankratz Tom S Price Jonathan Shaffer Sonia Shah Maciej Tomaszewski Peter J van der Most Erik P A Van Iperen Judith M Vonk Kate Witkowska Caroline O L Wong Li Zhang Amber L Beitelshees Gerald S Berenson Deepak L Bhatt Morris Brown Amber Burt Rhonda M Cooper-DeHoff John M Connell Karen J Cruickshanks Sean P Curtis George Davey-Smith Christian Delles Ron T Gansevoort Xiuqing Guo Shen Haiqing Claire E Hastie Marten H Hofker G Kees Hovingh Daniel S Kim Susan A Kirkland Barbara E Klein Ronald Klein Yun R Li Steffi Maiwald Christopher Newton-Cheh Eoin T O'Brien N Charlotte Onland-Moret Walter Palmas Afshin Parsa Brenda W Penninx Mary Pettinger Ramachandran S Vasan Jane E Ranchalis Paul M Ridker Lynda M Rose Peter Sever Daichi Shimbo Laura Steele Ronald P Stolk Barbara Thorand Mieke D Trip Cornelia M van Duijn W Monique Verschuren Cisca Wijmenga Sharon Wyatt J Hunter Young Aeilko H Zwinderman Connie R Bezzina Eric Boerwinkle Juan P Casas Mark J Caulfield Aravinda Chakravarti Daniel I Chasman Karina W Davidson Pieter A Doevendans Anna F Dominiczak Garret A FitzGerald John G Gums Myriam Fornage Hakon Hakonarson Indrani Halder Hans L Hillege Thomas Illig Gail P Jarvik Julie A Johnson John J P Kastelein Wolfgang Koenig Meena Kumari Winfried März Sarah S Murray Jeffery R O'Connell Albertine J Oldehinkel James S Pankow Daniel J Rader Susan Redline Muredach P Reilly Eric E Schadt Kandice Kottke-Marchant Harold Snieder Michael Snyder Alice V Stanton Martin D Tobin André G Uitterlinden Pim van der Harst Yvonne T van der Schouw Nilesh J Samani Hugh Watkins Andrew D Johnson Alex P Reiner Xiaofeng Zhu Paul I W de Bakker Daniel Levy Folkert W Asselbergs Patricia B Munroe Brendan J Keating

Am J Hum Genet 2014 Mar 20;94(3):349-60. Epub 2014 Feb 20.

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

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http://dx.doi.org/10.1016/j.ajhg.2013.12.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951943PMC
March 2014

Causal effects of body mass index on cardiometabolic traits and events: a Mendelian randomization analysis.

Am J Hum Genet 2014 Feb 23;94(2):198-208. Epub 2014 Jan 23.

Division of Transplantation, Department of Surgery, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA; Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.12.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3928659PMC
February 2014

Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.

Ophthalmology 2014 Jan 18;121(1):399-407. Epub 2013 Oct 18.

Department of Genetics, IIS - Fundación Jiménez Díaz, Madrid, Spain; Centre for Biomedical Network Research on Rare Diseases, ISCIII, Valencia, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2013.08.028DOI Listing
January 2014

CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment.

Pharmacogenet Genomics 2013 Nov;23(11):627-30

Departments of aGenetics and Genomics bPsychiatry, IIS - Fundacion Jimenez Diaz University Hospital cCIBERER ISCIII dDepartment of Biology, Autonomous University of Madrid, CBMSO, CSIC eDepartment of Clinical Pharmacology, La Princesa University Hospital, IIS Princesa fCIBEREHD ISCIII gDepartment of Preventive Medicine, Public Health and Medical Immunology and Microbiology, School of Health Sciences, Rey Juan Carlos University hCIBERSAM ISCIII, Madrid iCICAB, Clinical Research Centre, Extremadura University Hospital and Medical School, Badajoz, Spain jDepartment of Psychiatry, Columbia University, New York, New York, USA.

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http://dx.doi.org/10.1097/FPC.0b013e3283659a94DOI Listing
November 2013

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

Authors:
Folkert W Asselbergs Yiran Guo Erik P A van Iperen Suthesh Sivapalaratnam Vinicius Tragante Matthew B Lanktree Leslie A Lange Berta Almoguera Yolande E Appelman John Barnard Jens Baumert Amber L Beitelshees Tushar R Bhangale Yii-Der Ida Chen Tom R Gaunt Yan Gong Jemma C Hopewell Toby Johnson Marcus E Kleber Taimour Y Langaee Mingyao Li Yun R Li Kiang Liu Caitrin W McDonough Matthijs F L Meijs Rita P S Middelberg Kiran Musunuru Christopher P Nelson Jeffery R O'Connell Sandosh Padmanabhan James S Pankow Nathan Pankratz Suzanne Rafelt Ramakrishnan Rajagopalan Simon P R Romaine Nicholas J Schork Jonathan Shaffer Haiqing Shen Erin N Smith Sam E Tischfield Peter J van der Most Jana V van Vliet-Ostaptchouk Niek Verweij Kelly A Volcik Li Zhang Kent R Bailey Kristian M Bailey Florianne Bauer Jolanda M A Boer Peter S Braund Amber Burt Paul R Burton Sarah G Buxbaum Wei Chen Rhonda M Cooper-Dehoff L Adrienne Cupples Jonas S deJong Christian Delles David Duggan Myriam Fornage Clement E Furlong Nicole Glazer John G Gums Claire Hastie Michael V Holmes Thomas Illig Susan A Kirkland Mika Kivimaki Ronald Klein Barbara E Klein Charles Kooperberg Kandice Kottke-Marchant Meena Kumari Andrea Z LaCroix Laya Mallela Gurunathan Murugesan Jose Ordovas Willem H Ouwehand Wendy S Post Richa Saxena Hubert Scharnagl Pamela J Schreiner Tina Shah Denis C Shields Daichi Shimbo Sathanur R Srinivasan Ronald P Stolk Daniel I Swerdlow Herman A Taylor Eric J Topol Elina Toskala Joost L van Pelt Jessica van Setten Salim Yusuf John C Whittaker A H Zwinderman Sonia S Anand Anthony J Balmforth Gerald S Berenson Connie R Bezzina Bernhard O Boehm Eric Boerwinkle Juan P Casas Mark J Caulfield Robert Clarke John M Connell Karen J Cruickshanks Karina W Davidson Ian N M Day Paul I W de Bakker Pieter A Doevendans Anna F Dominiczak Alistair S Hall Catharina A Hartman Christian Hengstenberg Hans L Hillege Marten H Hofker Steve E Humphries Gail P Jarvik Julie A Johnson Bernhard M Kaess Sekar Kathiresan Wolfgang Koenig Debbie A Lawlor Winfried März Olle Melander Braxton D Mitchell Grant W Montgomery Patricia B Munroe Sarah S Murray Stephen J Newhouse N Charlotte Onland-Moret Neil Poulter Bruce Psaty Susan Redline Stephen S Rich Jerome I Rotter Heribert Schunkert Peter Sever Alan R Shuldiner Roy L Silverstein Alice Stanton Barbara Thorand Mieke D Trip Michael Y Tsai Pim van der Harst Ellen van der Schoot Yvonne T van der Schouw W M Monique Verschuren Hugh Watkins Arthur A M Wilde Bruce H R Wolffenbuttel John B Whitfield G Kees Hovingh Christie M Ballantyne Cisca Wijmenga Muredach P Reilly Nicholas G Martin James G Wilson Daniel J Rader Nilesh J Samani Alex P Reiner Robert A Hegele John J P Kastelein Aroon D Hingorani Philippa J Talmud Hakon Hakonarson Clara C Elbers Brendan J Keating Fotios Drenos

Am J Hum Genet 2012 Nov 11;91(5):823-38. Epub 2012 Oct 11.

Department of Cardiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2012.08.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3487124PMC
November 2012

Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients.

Eur Heart J 2012 Feb 6;33(3):346-53. Epub 2011 Aug 6.

Departamento de Bioquímica, Instituto de Investigaciones Biomédicas Alberto Sols CSIC-UAM, Facultad de Medicina, Universidad Autónoma de Madrid, Madrid, Spain.

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https://academic.oup.com/eurheartj/article-lookup/doi/10.109
Publisher Site
http://dx.doi.org/10.1093/eurheartj/ehr280DOI Listing
February 2012

Evaluating a newly developed pharmacogenetic array: screening in a Spanish population.

Pharmacogenomics 2010 Nov;11(11):1619-25

Genetics Department, CAIBER Unit, IIS-Fundacion Jimenez Diaz, Madrid, Spain and CIBERER ISCIII, Madrid, Spain.

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http://dx.doi.org/10.2217/pgs.10.131DOI Listing
November 2010