Publications by authors named "Sara S Cathey"

21 Publications

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Histone H3.3 beyond cancer: Germline mutations in cause a previously unidentified neurodegenerative disorder in 46 patients.

Authors:
Laura Bryant Dong Li Samuel G Cox Dylan Marchione Evan F Joiner Khadija Wilson Kevin Janssen Pearl Lee Michael E March Divya Nair Elliott Sherr Brieana Fregeau Klaas J Wierenga Alexandrea Wadley Grazia M S Mancini Nina Powell-Hamilton Jiddeke van de Kamp Theresa Grebe John Dean Alison Ross Heather P Crawford Zoe Powis Megan T Cho Marcia C Willing Linda Manwaring Rachel Schot Caroline Nava Alexandra Afenjar Davor Lessel Matias Wagner Thomas Klopstock Juliane Winkelmann Claudia B Catarino Kyle Retterer Jane L Schuette Jeffrey W Innis Amy Pizzino Sabine Lüttgen Jonas Denecke Tim M Strom Kristin G Monaghan Zuo-Fei Yuan Holly Dubbs Renee Bend Jennifer A Lee Michael J Lyons Julia Hoefele Roman Günthner Heiko Reutter Boris Keren Kelly Radtke Omar Sherbini Cameron Mrokse Katherine L Helbig Sylvie Odent Benjamin Cogne Sandra Mercier Stephane Bezieau Thomas Besnard Sebastien Kury Richard Redon Karit Reinson Monica H Wojcik Katrin Õunap Pilvi Ilves A Micheil Innes Kristin D Kernohan Gregory Costain M Stephen Meyn David Chitayat Elaine Zackai Anna Lehman Hilary Kitson Martin G Martin Julian A Martinez-Agosto Stan F Nelson Christina G S Palmer Jeanette C Papp Neil H Parker Janet S Sinsheimer Eric Vilain Jijun Wan Amanda J Yoon Allison Zheng Elise Brimble Giovanni Battista Ferrero Francesca Clementina Radio Diana Carli Sabina Barresi Alfredo Brusco Marco Tartaglia Jennifer Muncy Thomas Luis Umana Marjan M Weiss Garrett Gotway K E Stuurman Michelle L Thompson Kirsty McWalter Constance T R M Stumpel Servi J C Stevens Alexander P A Stegmann Kristian Tveten Arve Vøllo Trine Prescott Christina Fagerberg Lone Walentin Laulund Martin J Larsen Melissa Byler Robert Roger Lebel Anna C Hurst Joy Dean Samantha A Schrier Vergano Jennifer Norman Saadet Mercimek-Andrews Juanita Neira Margot I Van Allen Nicola Longo Elizabeth Sellars Raymond J Louie Sara S Cathey Elly Brokamp Delphine Heron Molly Snyder Adeline Vanderver Celeste Simon Xavier de la Cruz Natália Padilla J Gage Crump Wendy Chung Benjamin Garcia Hakon H Hakonarson Elizabeth J Bhoj

Sci Adv 2020 Dec 2;6(49). Epub 2020 Dec 2.

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

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December 2020

Pre-clinical Gene Therapy with AAV9/AGA in Aspartylglucosaminuria Mice Provides Evidence for Clinical Translation.

Mol Ther 2020 Nov 11. Epub 2020 Nov 11.

Department of Pediatrics, UTSW Medical Center, Dallas, TX 75390, USA. Electronic address:

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November 2020

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.

Cells 2020 06 5;9(6). Epub 2020 Jun 5.

Division of Pediatric Blood and Marrow Transplant, University of Minnesota, Minneapolis, MN 55455, USA.

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June 2020

Intellectual functioning in alpha-mannosidosis.

JIMD Rep 2019 Nov 21;50(1):44-49. Epub 2019 Sep 21.

Greenwood Genetic Center Greenwood South Carolina.

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November 2019

Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential.

Pediatr Dermatol 2017 May;34(3):352-355

Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina, Charleston, South Carolina.

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May 2017

Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis.

Pediatr Neurol 2016 Sep 18;62:71-2. Epub 2016 Apr 18.

Greenwood Genetic Center, North Charleston, South Carolina.

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September 2016

A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.

Eur J Hum Genet 2014 May 18;22(5):594-601. Epub 2013 Sep 18.

Department of Clinical Genetics, Greenwood Genetic Center, Charleston Office, North Charleston, SC, USA.

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May 2014

Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.

Arch Pathol Lab Med 2011 Apr;135(4):503-10

Department of Pathology, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.

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April 2011