Publications by authors named "Julie C Sapp"

45Publications

Allelic heterogeneity of Proteus syndrome.

Cold Spring Harb Mol Case Stud 2020 06 12;6(3). Epub 2020 Jun 12.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a005181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304363PMC
June 2020

Hypertrichotic patches as a mosaic manifestation of Proteus syndrome.

J Am Acad Dermatol 2020 Feb 7. Epub 2020 Feb 7.

Department of Dermatology, Uniformed Services University, Bethesda, Maryland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2020.01.078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7415737PMC
February 2020

A dyadic genotype-phenotype approach to diagnostic criteria for Proteus syndrome.

Am J Med Genet C Semin Med Genet 2019 12 6;181(4):565-570. Epub 2019 Nov 6.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31744DOI Listing
December 2019

Thrombosis risk factors in PIK3CA-related overgrowth spectrum and Proteus syndrome.

Am J Med Genet C Semin Med Genet 2019 12 6;181(4):571-581. Epub 2019 Sep 6.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.c.31735DOI Listing
December 2019

Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.

Cold Spring Harb Mol Case Stud 2019 08 1;5(4). Epub 2019 Aug 1.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a004036DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6672027PMC
August 2019

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.

Authors:
Benjamin Cogné Sophie Ehresmann Eliane Beauregard-Lacroix Justine Rousseau Thomas Besnard Thomas Garcia Slavé Petrovski Shiri Avni Kirsty McWalter Patrick R Blackburn Stephan J Sanders Kévin Uguen Jacqueline Harris Julie S Cohen Moira Blyth Anna Lehman Jonathan Berg Mindy H Li Usha Kini Shelagh Joss Charlotte von der Lippe Christopher T Gordon Jennifer B Humberson Laurie Robak Daryl A Scott Vernon R Sutton Cara M Skraban Jennifer J Johnston Annapurna Poduri Magnus Nordenskjöld Vandana Shashi Erica H Gerkes Ernie M H F Bongers Christian Gilissen Yuri A Zarate Malin Kvarnung Kevin P Lally Peggy A Kulch Brina Daniels Andres Hernandez-Garcia Nicholas Stong Julie McGaughran Kyle Retterer Kristian Tveten Jennifer Sullivan Madeleine R Geisheker Asbjorg Stray-Pedersen Jennifer M Tarpinian Eric W Klee Julie C Sapp Jacob Zyskind Øystein L Holla Emma Bedoukian Francesca Filippini Anne Guimier Arnaud Picard Øyvind L Busk Jaya Punetha Rolph Pfundt Anna Lindstrand Ann Nordgren Fayth Kalb Megha Desai Ashley Harmon Ebanks Shalini N Jhangiani Tammie Dewan Zeynep H Coban Akdemir Aida Telegrafi Elaine H Zackai Amber Begtrup Xiaofei Song Annick Toutain Ingrid M Wentzensen Sylvie Odent Dominique Bonneau Xénia Latypova Wallid Deb Sylvia Redon Frédéric Bilan Marine Legendre Caitlin Troyer Kerri Whitlock Oana Caluseriu Marine I Murphree Pavel N Pichurin Katherine Agre Ralitza Gavrilova Tuula Rinne Meredith Park Catherine Shain Erin L Heinzen Rui Xiao Jeanne Amiel Stanislas Lyonnet Bertrand Isidor Leslie G Biesecker Dan Lowenstein Jennifer E Posey Anne-Sophie Denommé-Pichon Claude Férec Xiang-Jiao Yang Jill A Rosenfeld Brigitte Gilbert-Dussardier Séverine Audebert-Bellanger Richard Redon Holly A F Stessman Christoffer Nellaker Yaping Yang James R Lupski David B Goldstein Evan E Eichler Francois Bolduc Stéphane Bézieau Sébastien Küry Philippe M Campeau

Am J Hum Genet 2019 03 28;104(3):530-541. Epub 2019 Feb 28.

Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2019.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407527PMC
March 2019

Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome.

Am J Hum Genet 2018 12 15;103(6):976-983. Epub 2018 Nov 15.

Department of Ophthalmology, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Medical Genetics, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Clinical Medicine, University of Bergen, N-5021 Bergen, Norway.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297183036
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2018.10.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288050PMC
December 2018

Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome.

Am J Med Genet A 2018 12 22;176(12):2677-2684. Epub 2018 Oct 22.

Liver Diseases Branch, National Institute of Diabetes & Digestive & Kidney Diseases, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.40636DOI Listing
December 2018

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms tumor in PIK3CA-related overgrowth spectrum (PROS).

Genet Med 2018 09 4;20(9):1077-1081. Epub 2018 Jan 4.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.228DOI Listing
September 2018

Compound heterozygous alterations in intraflagellar transport protein in a child with a novel Joubert and oral-facial-digital overlap syndrome.

Cold Spring Harb Mol Case Stud 2017 07 5;3(4). Epub 2017 Jul 5.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1101/mcs.a001321DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495032PMC
July 2017

Quantifying survival in patients with Proteus syndrome.

Genet Med 2017 12 29;19(12):1376-1379. Epub 2017 Jun 29.

National Human Genome Research Institute, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/gim.2017.65DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5720922PMC
December 2017

Characterization of thrombosis in patients with Proteus syndrome.

Am J Med Genet A 2017 Sep 19;173(9):2359-2365. Epub 2017 Jun 19.

Medical Genomics Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38311DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592090PMC
September 2017

GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.

Am J Hum Genet 2016 Nov 13;99(5):1034-1044. Epub 2016 Oct 13.

The National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD 20892, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.08.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097944PMC
November 2016

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis.

Am J Med Genet A 2016 10 23;170(10):2605-10. Epub 2016 Aug 23.

Medical Genomics and Metabolic Genetics Branch, National Human Genetics Research Branch, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37737DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580816PMC
October 2016

Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.

Hum Genome Var 2016 4;3:15069. Epub 2016 Feb 4.

Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2015.69DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760119PMC
April 2016

Characterization of Courtesy Stigma Perceived by Parents of Overweight Children with Bardet-Biedl Syndrome.

PLoS One 2015 16;10(10):e0140705. Epub 2015 Oct 16.

Metabolic Genetics and Molecular Genomics Branch, National Human Genome Research Institute, Bethesda, Maryland, United States of America.

View Article

Download full-text PDF

Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0140705PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608820PMC
June 2016

Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.

Hum Genome Var 2015 19;2:15045. Epub 2015 Nov 19.

Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/hgv.2015.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785546PMC
April 2016

Research participants' attitudes towards the confidentiality of genomic sequence information.

Eur J Hum Genet 2014 Aug 27;22(8):964-8. Epub 2013 Nov 27.

1] Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, MD, USA [2] Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4350593PMC
August 2014

Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

Am J Med Genet A 2014 Jan 20;164A(1):120-8. Epub 2013 Nov 20.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36212DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4443488PMC
January 2014

Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

Am J Med Genet A 2013 Dec 5;161A(12):2964-71. Epub 2013 Nov 5.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36245
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4419571PMC
December 2013

Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

Hum Mutat 2013 Sep 28;34(9):1242-9. Epub 2013 May 28.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22350DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3745514PMC
September 2013

Approaches to informed consent for hypothesis-testing and hypothesis-generating clinical genomics research.

BMC Med Genomics 2012 Oct 10;5:45. Epub 2012 Oct 10.

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1755-8794-5-45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495642PMC
October 2012

Assessment and management of the orthopedic and other complications of Proteus syndrome.

J Child Orthop 2011 Oct 28;5(5):319-27. Epub 2011 May 28.

Division of Orthopaedic Surgery and Sports Medicine, Children's National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010 USA ; Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11832-011-0350-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3179535PMC
October 2011

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Am J Hum Genet 2012 Feb 2;90(2):295-300. Epub 2012 Feb 2.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2011.11.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276655PMC
February 2012

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS).

BMC Med Genet 2011 Jul 27;12:101. Epub 2011 Jul 27.

Department of Pediatrics, Division of Medical Genetics, The University of Iowa Children's Hospital, Iowa City, IA 52242, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-12-101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199749PMC
July 2011

Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

J Clin Endocrinol Metab 2011 Mar 5;96(3):E528-35. Epub 2011 Jan 5.

Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892-4472, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2010-2290DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3047221PMC
March 2011

Recurrence risks for Bardet-Biedl syndrome: Implications of locus heterogeneity.

Genet Med 2010 Oct;12(10):623-7

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115203PMC
http://dx.doi.org/10.1097/GIM.0b013e3181f07572DOI Listing
October 2010

Progressive overgrowth of the cerebriform connective tissue nevus in patients with Proteus syndrome.

J Am Acad Dermatol 2010 Nov 14;63(5):799-804. Epub 2010 Aug 14.

Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, Maryland 20814, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaad.2009.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3240941PMC
November 2010

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

BMC Med Genet 2008 Oct 23;9:92. Epub 2008 Oct 23.

Genetic Disease Research Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://bmcmedgenet.biomedcentral.com/articles/10.1186/1471-2
Publisher Site
http://dx.doi.org/10.1186/1471-2350-9-92DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2584628PMC
October 2008

Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients.

Am J Med Genet A 2007 Dec;143A(24):2944-58

National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.32023DOI Listing
December 2007