Julie Vogt

Julie Vogt

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Julie Vogt

Julie Vogt

Publications by authors named "Julie Vogt"

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Behavioral Impact of Long-Term Chronic Implantation of Neural Recording Devices in the Rhesus Macaque.

Neuromodulation 2019 Jun 17;22(4):435-440. Epub 2018 Jul 17.

Evelyn F. McKnight Brain Institute, University of Arizona, Tucson, AZ, USA.

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http://dx.doi.org/10.1111/ner.12794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336531PMC
June 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss-Another Mendelian Mimicker of Congenital Cytomegalovirus Infection.

Pediatr Neurol 2017 01 13;66:59-62. Epub 2016 Sep 13.

Department of Neurology, Children's National Medical Center, Washington, DC; Department of Integrated Systems Biology, George Washington University, Washington, DC; Department of Pediatrics, George Washington University, Washington, DC. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.09.003DOI Listing
January 2017

De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.

Am J Hum Genet 2017 Jan 23;100(1):138-150. Epub 2016 Dec 23.

Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, Windmill Road, Headington, Oxford OX3 7HE, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223060PMC
January 2017

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Am J Hum Genet 2016 09 18;99(3):711-719. Epub 2016 Aug 18.

Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(16)30267-1.pdf
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http://linkinghub.elsevier.com/retrieve/pii/S000292971630267
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http://dx.doi.org/10.1016/j.ajhg.2016.06.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5011044PMC
September 2016

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies.

Am J Med Genet A 2015 Dec 3;167A(12):3011-8. Epub 2015 Sep 3.

Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Georgia Regents University, Augusta, Georgia.

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http://dx.doi.org/10.1002/ajmg.a.37344DOI Listing
December 2015

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Authors:
Yanick J Crow Diana S Chase Johanna Lowenstein Schmidt Marcin Szynkiewicz Gabriella M A Forte Hannah L Gornall Anthony Oojageer Beverley Anderson Amy Pizzino Guy Helman Mohamed S Abdel-Hamid Ghada M Abdel-Salam Sam Ackroyd Alec Aeby Guillermo Agosta Catherine Albin Stavit Allon-Shalev Montse Arellano Giada Ariaudo Vijay Aswani Riyana Babul-Hirji Eileen M Baildam Nadia Bahi-Buisson Kathryn M Bailey Christine Barnerias Magalie Barth Roberta Battini Michael W Beresford Geneviève Bernard Marika Bianchi Thierry Billette de Villemeur Edward M Blair Miriam Bloom Alberto B Burlina Maria Luisa Carpanelli Daniel R Carvalho Manuel Castro-Gago Anna Cavallini Cristina Cereda Kate E Chandler David A Chitayat Abigail E Collins Concepcion Sierra Corcoles Nuno J V Cordeiro Giovanni Crichiutti Lyvia Dabydeen Russell C Dale Stefano D'Arrigo Christian G E L De Goede Corinne De Laet Liesbeth M H De Waele Ines Denzler Isabelle Desguerre Koenraad Devriendt Maja Di Rocco Michael C Fahey Elisa Fazzi Colin D Ferrie António Figueiredo Blanca Gener Cyril Goizet Nirmala R Gowrinathan Kalpana Gowrishankar Donncha Hanrahan Bertrand Isidor Bülent Kara Nasaim Khan Mary D King Edwin P Kirk Ram Kumar Lieven Lagae Pierre Landrieu Heinz Lauffer Vincent Laugel Roberta La Piana Ming J Lim Jean-Pierre S-M Lin Tarja Linnankivi Mark T Mackay Daphna R Marom Charles Marques Lourenço Shane A McKee Isabella Moroni Jenny E V Morton Marie-Laure Moutard Kevin Murray Rima Nabbout Sheela Nampoothiri Noemi Nunez-Enamorado Patrick J Oades Ivana Olivieri John R Ostergaard Belén Pérez-Dueñas Julie S Prendiville Venkateswaran Ramesh Magnhild Rasmussen Luc Régal Federica Ricci Marlène Rio Diana Rodriguez Agathe Roubertie Elisabetta Salvatici Karin A Segers Gyanranjan P Sinha Doriette Soler Ronen Spiegel Tommy I Stödberg Rachel Straussberg Kathryn J Swoboda Mohnish Suri Uta Tacke Tiong Y Tan Johann te Water Naude Keng Wee Teik Maya Mary Thomas Marianne Till Davide Tonduti Enza Maria Valente Rudy Noel Van Coster Marjo S van der Knaap Grace Vassallo Raymon Vijzelaar Julie Vogt Geoffrey B Wallace Evangeline Wassmer Hannah J Webb William P Whitehouse Robyn N Whitney Maha S Zaki Sameer M Zuberi John H Livingston Flore Rozenberg Pierre Lebon Adeline Vanderver Simona Orcesi Gillian I Rice

Am J Med Genet A 2015 Feb 16;167A(2):296-312. Epub 2015 Jan 16.

INSERM UMR 1163, Laboratory of Neurogenetics and Neuroinflammation, Paris Descartes - Sorbonne Paris Cité University, Institut Imagine, Hôpital Necker, Paris, France; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/ajmg.a.36887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382202PMC
February 2015

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

Acta Neuropathol Commun 2014 Dec 5;2:148. Epub 2014 Dec 5.

Department of Medical Genetics, University of Cambridge and NIHR Cambridge Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge, CB2 0QQ, UK.

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http://dx.doi.org/10.1186/s40478-014-0148-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4271450PMC
December 2014

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

J Med Genet 2014 Oct 14;51(10):659-68. Epub 2014 Aug 14.

MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, UK.

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http://dx.doi.org/10.1136/jmedgenet-2014-102573DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4173748PMC
October 2014

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Lancet Neurol 2013 Dec 30;12(12):1159-69. Epub 2013 Oct 30.

Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester Academic Health Sciences Centre (MAHSC), Manchester, UK.

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http://dx.doi.org/10.1016/S1474-4422(13)70258-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4349523PMC
December 2013

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.

Am J Med Genet A 2013 Feb 15;161A(2):338-42. Epub 2013 Jan 15.

Centre for Rare Diseases and Personalised Medicine, Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1002/ajmg.a.35712DOI Listing
February 2013

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

J Med Genet 2012 Jan;49(1):21-6

Centre for Rare Diseases and Personalised Medicine and Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham, Birmingham, UK.

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http://dx.doi.org/10.1136/jmedgenet-2011-100378DOI Listing
January 2012

Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.

Am J Hum Genet 2008 Jan;82(1):222-7

Department of Medical and Molecular Genetics and WellChild Paediatric Research Centre, Division of Reproductive and Child Health, University of Birmingham, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1016/j.ajhg.2007.09.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2253973PMC
January 2008

EEG sharp waves and sparse ensemble unit activity in the macaque hippocampus.

J Neurophysiol 2007 Aug 23;98(2):898-910. Epub 2007 May 23.

Arizona Research Laboratories Division of Neural Systems, Memory and Aging, University of Arizona, Tucson, Arizona 85724, USA.

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http://dx.doi.org/10.1152/jn.00401.2007DOI Listing
August 2007

The tale of a nail sign in chromosome 4q34 deletion syndrome.

Clin Dysmorphol 2006 Jul;15(3):127-32

Clinical Genetics Unit, Birmingham Women's Hospital, Edgbaston, West Midlands, UK.

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http://dx.doi.org/10.1097/01.mcd.0000203632.86190.64DOI Listing
July 2006

Unique case of Helicobacter sp. osteomyelitis in an immunocompetent child diagnosed by broad-range 16S PCR.

J Clin Microbiol 2002 Aug;40(8):3100-3

Department of Microbiology, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC120673PMC
http://dx.doi.org/10.1128/jcm.40.8.3100-3103.2002DOI Listing
August 2002