Rosetta Chiavacci

Rosetta Chiavacci

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Rosetta Chiavacci

Rosetta Chiavacci

Publications by authors named "Rosetta Chiavacci"

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69Publications

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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

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

Case Rep Genet 2016 16;2016:4140780. Epub 2016 Mar 16.

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

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http://www.hindawi.com/journals/crig/2016/4140780/
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http://dx.doi.org/10.1155/2016/4140780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4812228PMC
April 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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http://dx.doi.org/10.1186/s12891-016-0936-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754938PMC
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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http://dx.doi.org/10.1016/j.neuroimage.2015.03.056DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4591095PMC
January 2016

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

Hum Reprod 2015 Oct 24;30(10):2439-51. Epub 2015 Jul 24.

Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA Department of Molecular Medicine, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1093/humrep/dev180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573451PMC
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

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

J Urol 2015 May 25;193(5):1637-45. Epub 2014 Oct 25.

Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Molecular Medicine, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1016/j.juro.2014.10.097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406821PMC
May 2015

Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesity.

J Clin Endocrinol Metab 2015 Apr 30;100(4):1551-60. Epub 2015 Jan 30.

Division of Endocrinology and Diabetes (S.M.R., A.K., S.F.A.G, S.E.M.), Division of Human Genetics (A.C., H.H., S.F.A.G.), Center for Applied Genomics (F.M., R.C., H.H., S.F.A.G.), Division of Gastroenterology, Hepatology, and Nutrition (B.S.Z.), The Children's Hospital of Philadelphia, and Departments of Biostatistics and Epidemiology (R.X., J.A.M.) and Pediatrics (A.K., H.H., S.F.A.G., B.S.Z, S.E.M.), Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
Publisher Site
http://dx.doi.org/10.1210/jc.2014-4028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4399305PMC
April 2015

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

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.

Appl Clin Genet 2009 9;2:1-5. Epub 2009 Dec 9.

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

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681036PMC
June 2013

Common variants at 12q15 and 12q24 are associated with infant head circumference.

Nat Genet 2012 Apr 15;44(5):532-538. Epub 2012 Apr 15.

Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773913PMC
April 2012

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

Genome-wide association identifies diverse causes of common variable immunodeficiency.

J Allergy Clin Immunol 2011 Jun 17;127(6):1360-7.e6. Epub 2011 Apr 17.

Division of Allergy and Immunology, Children's Hospital of Philadelphia Research Institute, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.jaci.2011.02.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646656PMC
June 2011

Common variants at five new loci associated with early-onset inflammatory bowel disease.

Authors:
Marcin Imielinski Robert N Baldassano Anne Griffiths Richard K Russell Vito Annese Marla Dubinsky Subra Kugathasan Jonathan P Bradfield Thomas D Walters Patrick Sleiman Cecilia E Kim Aleixo Muise Kai Wang Joseph T Glessner Shehzad Saeed Haitao Zhang Edward C Frackelton Cuiping Hou James H Flory George Otieno Rosetta M Chiavacci Robert Grundmeier Massimo Castro Anna Latiano Bruno Dallapiccola Joanne Stempak Debra J Abrams Kent Taylor Dermot McGovern Gary Silber Iwona Wrobel Antonio Quiros Jeffrey C Barrett Sarah Hansoul Dan L Nicolae Judy H Cho Richard H Duerr John D Rioux Steven R Brant Mark S Silverberg Kent D Taylor M Michael Barmuda Alain Bitton Themistocles Dassopoulos Lisa Wu Datta Todd Green Anne M Griffiths Emily O Kistner Michael T Murtha Miguel D Regueiro Jerome I Rotter L Philip Schumm A Hillary Steinhart Stephen R Targan Ramnik J Xavier Cécile Libioulle Cynthia Sandor Mark Lathrop Jacques Belaiche Olivier Dewit Ivo Gut Simon Heath Debby Laukens Myriam Mni Paul Rutgeerts André Van Gossum Diana Zelenika Denis Franchimont J P Hugot Martine de Vos Severine Vermeire Edouard Louis Lon R Cardon Carl A Anderson Hazel Drummond Elaine Nimmo Tariq Ahmad Natalie J Prescott Clive M Onnie Sheila A Fisher Jonathan Marchini Jilur Ghori Suzannah Bumpstead Rhian Gwillam Mark Tremelling Panos Delukas John Mansfield Derek Jewell Jack Satsangi Christopher G Mathew Miles Parkes Michel Georges Mark J Daly Melvin B Heyman George D Ferry Barbara Kirschner Jessica Lee Jonah Essers Richard Grand Michael Stephens Arie Levine David Piccoli John Van Limbergen Salvatore Cucchiara Dimitri S Monos Stephen L Guthery Lee Denson David C Wilson Straun F A Grant Mark Daly Mark S Silverberg Jack Satsangi Hakon Hakonarson

Nat Genet 2009 Dec 15;41(12):1335-40. Epub 2009 Nov 15.

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

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http://dx.doi.org/10.1038/ng.489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267927PMC
December 2009

An evaluation of a noninvasive cardiac output measurement using partial carbon dioxide rebreathing in children.

Anesth Analg 2004 Dec;99(6):1642-7, table of contents

Department of Anesthesiology and Critical Care Medicine, The Children's Hospital of Philadelphia, 34th St. and Civic Center Blvd., Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1213/01.ANE.0000136952.85278.99DOI Listing
December 2004

A liberalized fasting guideline for formula-fed infants does not increase average gastric fluid volume before elective surgery.

Anesth Analg 2003 Apr;96(4):965-9, table of contents

Department of Anesthesiology and Critical Care Medicine, Division of Biostatistics and Epidemiology, Children's Hospital of Philadelphia, 34th Street & Civic Center Boulevard, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1213/01.ane.0000055807.31411.8bDOI Listing
April 2003

An MRI study of neurological injury before and after congenital heart surgery.

Circulation 2002 Sep;106(12 Suppl 1):I109-14

Department of Pediatrics, Division of Cardiology, The Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Penn, USA.

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September 2002

Tonsillectomy by means of plasma-mediated ablation: prospective, randomized, blinded comparison with monopolar electrosurgery.

Arch Otolaryngol Head Neck Surg 2002 Jun;128(6):672-6

Division of Otolarynology, The Children's Hospital of Philadelphia and Department of Otolaryngology-Head and neck Surgery, The University of Pennsylvania School of Medicine, Philadelphia, PA 19104-4399, USA.

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http://dx.doi.org/10.1001/archotol.128.6.672DOI Listing
June 2002

A study of lidocaine iontophoresis for pediatric venipuncture.

Anesth Analg 2002 Apr;94(4):867-71, table of contents

Department of Anesthesiology and Critical Care Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia 19104, USA.

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http://dx.doi.org/10.1097/00000539-200204000-00017DOI Listing
April 2002