Publications by authors named "Sara S Cathey"

21 Publications

  • Page 1 of 1

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.

View Article and Find Full Text PDF
December 2020

Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Authors:
Fanny Mochel Agnès Rastetter Berten Ceulemans Konrad Platzer Sandra Yang Deepali N Shinde Katherine L Helbig Diego Lopergolo Francesca Mari Alessandra Renieri Elisa Benetti Roberto Canitano Quinten Waisfisz Astrid S Plomp Sylvia A Huisman Golder N Wilson Sara S Cathey Raymond J Louie Daniela Del Gaudio Darrel Waggoner Shawn Kacker Kimberly M Nugent Elizabeth R Roeder Ange-Line Bruel Julien Thevenon Nadja Ehmke Denise Horn Manuel Holtgrewe Frank J Kaiser Susanne B Kamphausen Rami Abou Jamra Sarah Weckhuysen Carine Dalle Christel Depienne

Brain 2020 12;143(12):3564-3573

Institut du Cerveau et de la Moelle épinière (ICM), Sorbonne Université, UMR S 1127, Inserm U1127, CNRS UMR 7225, F-75013 Paris, France.

View Article and Find Full Text PDF
December 2020

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

Authors:
Xin Chen Sarah Snanoudj-Verber Laura Pollard Yuhui Hu Sara S Cathey Ritva Tikkanen Steven J Gray

Mol Ther 2020 Nov 11. Epub 2020 Nov 11.

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

View Article and Find Full Text PDF
November 2020

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.

Authors:
Brianna M Naumchik Ashish Gupta Heather Flanagan-Steet Richard A Steet Sara S Cathey Paul J Orchard Troy C Lund

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

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

View Article and Find Full Text PDF
June 2020

Intellectual functioning in alpha-mannosidosis.

Authors:
Sara S Cathey Sara M Sarasua Richard Simensen Katie Pietris Gordon Kimbrell David Sillence Callum Wilson Lucia Horowitz

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

Greenwood Genetic Center Greenwood South Carolina.

View Article and Find Full Text PDF
November 2019

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

Authors:
Eric G Bend Erfan Aref-Eshghi David B Everman R Curtis Rogers Sara S Cathey Eloise J Prijoles Michael J Lyons Heather Davis Katie Clarkson Karen W Gripp Dong Li Elizabeth Bhoj Elaine Zackai Paul Mark Hakon Hakonarson Laurie A Demmer Michael A Levy Jennifer Kerkhof Alan Stuart David Rodenhiser Michael J Friez Roger E Stevenson Charles E Schwartz Bekim Sadikovic

Clin Epigenetics 2019 04 27;11(1):64. Epub 2019 Apr 27.

Department of Pathology and Laboratory Medicine, Western University, 800 Commissioner's Road E, London, ON, N6A 5W9, Canada.

View Article and Find Full Text PDF
April 2019

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.

Authors:
Renata Voltolini Velho Frederike L Harms Tatyana Danyukova Nataniel F Ludwig Michael J Friez Sara S Cathey Mirella Filocamo Barbara Tappino Nilay Güneş Beyhan Tüysüz Karen L Tylee Kathryn L Brammeier Lesley Heptinstall Esmee Oussoren Ans T van der Ploeg Christine Petersen Sandra Alves Gloria Durán Saavedra Ida V Schwartz Nicole Muschol Kerstin Kutsche Sandra Pohl

Hum Mutat 2019 07 13;40(7):842-864. Epub 2019 Apr 13.

Section Cell Biology of Rare Diseases, Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

View Article and Find Full Text PDF
July 2019

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

Authors:
Catherine J Spellicy Yunhui Peng Leah Olewiler Sara S Cathey R Curtis Rogers Dennis Bartholomew Jacob Johnson Emil Alexov Jennifer A Lee Michael J Friez Julie R Jones

J Hum Genet 2019 Jun 11;64(6):561-572. Epub 2019 Mar 11.

Greenwood Genetic Center, Greenwood, SC, 29646, USA.

View Article and Find Full Text PDF
June 2019

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Authors:
Erin Torti Boris Keren Elizabeth E Palmer Zehua Zhu Alexandra Afenjar Ilse J Anderson Marisa V Andrews Celia Atkinson Margaret Au Susan A Berry Kevin M Bowling Jackie Boyle Julien Buratti Sara S Cathey Perrine Charles Benjamin Cogne Thomas Courtin Luis F Escobar Sabra Ledare Finley John M Graham Dorothy K Grange Delphine Heron Stacy Hewson Susan M Hiatt Kathleen A Hibbs Parul Jayakar Louisa Kalsner Lise Larcher Gaetan Lesca Paul R Mark Kathryn Miller Caroline Nava Mathilde Nizon G Shashidhar Pai John Pappas Gretchen Parsons Katelyn Payne Audrey Putoux Rachel Rabin Isabelle Sabatier Marwan Shinawi Natasha Shur Steven A Skinner Stephanie Valence Hannah Warren Sandra Whalen Amy Crunk Ganka Douglas Kristin G Monaghan Richard E Person Rebecca Willaert Benjamin D Solomon Jane Juusola

Genet Med 2019 09 11;21(9):2036-2042. Epub 2019 Feb 11.

GeneDx, Gaithersburg, MD, USA.

View Article and Find Full Text PDF
September 2019

Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.

Authors:
Sheela Nampoothiri Nursel H Elcioglu Suleyman S Koca Dhanya Yesodharan Chandrababu Kk Vinod Krishnan Meenakshi Bhat Mohandas Nair K Natasha Radhakrishnan Mahesh Kappanayil Jayesh J Sheth Sandra Alves Francisca Coutinho Michael J Friez Richard M Pauli Sheila Unger Andrea Superti-Furga Jules G Leroy Sara S Cathey

Clin Dysmorphol 2019 Jan;28(1):7-16

Greenwood Genetic Center, Greenwood, South Carolina.

View Article and Find Full Text PDF
January 2019

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Authors:
Davor Lessel Christina Gehbauer Nuria C Bramswig Caroline Schluth-Bolard Sathish Venkataramanappa Koen L I van Gassen Maja Hempel Tobias B Haack Anja Baresic Casie A Genetti Mariana F A Funari Ivana Lessel Leonie Kuhlmann Ruth Simon Pentao Liu Jonas Denecke Alma Kuechler Ineke de Kruijff Moneef Shoukier Monkol Lek Thomas Mullen Hermann-Josef Lüdecke Antonio M Lerario Robin Kobbe Thorsten Krieger Benedicte Demeer Marine Lebrun Boris Keren Caroline Nava Julien Buratti Alexandra Afenjar Marwan Shinawi Maria J Guillen Sacoto Julie Gauthier Fadi F Hamdan Anne-Marie Laberge Philippe M Campeau Raymond J Louie Sara S Cathey Immo Prinz Alexander A L Jorge Paulien A Terhal Boris Lenhard Dagmar Wieczorek Tim M Strom Pankaj B Agrawal Stefan Britsch Eva Tolosa Christian Kubisch

Brain 2018 08;141(8):2299-2311

Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

View Article and Find Full Text PDF
August 2018

Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential.

Authors:
Amit Om Sara S Cathey Robert M Gathings Michelle Hudspeth Jennifer A Lee Sean Marzolf Lara Wine Lee

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

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

View Article and Find Full Text PDF
May 2017

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

Authors:
Brita S Deacon Jane M Charles Edward W Cheeseman Sara S Cathey

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

Greenwood Genetic Center, North Charleston, South Carolina.

View Article and Find Full Text PDF
September 2016

Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a developing country.

Authors:
Sheela Nampoothiri Dhanya Yesodharan Gazel Sainulabdin Dhanyalakshmi Narayanan Laxmi Padmanabhan Katta Mohan Girisha Sara S Cathey Anne De Paepe Fransiska Malfait Delfien Syx Raoul C Hennekam Luisa Bonafe Sheila Unger Andrea Superti-Furga

Am J Med Genet A 2014 Sep 14;164A(9):2317-23. Epub 2014 Jul 14.

Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Center, Cochin, Kerala, India.

View Article and Find Full Text PDF
September 2014

Outcomes after hematopoietic stem cell transplantation for children with I-cell disease.

Authors:
Troy C Lund Sara S Cathey Weston P Miller Mary Eapen Martin Andreansky Christopher C Dvorak Jeffrey H Davis Jignesh D Dalal Steven M Devine Gretchen M Eames William S Ferguson Roger H Giller Wensheng He Joanne Kurtzberg Robert Krance Emmanuel Katsanis Victor A Lewis Indira Sahdev Paul J Orchard

Biol Blood Marrow Transplant 2014 Nov 10;20(11):1847-51. Epub 2014 Jul 10.

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

View Article and Find Full Text PDF
November 2014

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

Authors:
Jules G Leroy David Sillence Tim Wood Jarrod Barnes Robert Roger Lebel Michael J Friez Roger E Stevenson Richard Steet Sara S Cathey

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.

View Article and Find Full Text PDF
May 2014

Clinical utility of the X-chromosome array.

Authors:
Yuri A Zarate Alka Dwivedi Frank O Bartel M Allison Bellomo Sara S Cathey Neena L Champaigne L Kate Clarkson Barbara R Dupont David B Everman Joseph S Geer Barbara C Gordon Angie W Lichty Michael J Lyons R Curtis Rogers Robert A Saul Richard J Schroer Steven A Skinner Roger E Stevenson

Am J Med Genet A 2013 Jan 3;161A(1):120-30. Epub 2012 Dec 3.

Greenwood Genetic Center, Greenwood, SC, USA.

View Article and Find Full Text PDF
January 2013

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

Authors:
Darcy A Kerr Vincent A Memoli Sara S Cathey Brent T Harris

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

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

View Article and Find Full Text PDF
April 2011

Molecular order in mucolipidosis II and III nomenclature.

Authors:
Sara S Cathey Mariko Kudo Stephan Tiede Annick Raas-Rothschild Thomas Braulke Michael Beck Harold A Taylor William M Canfield Jules G Leroy Elizabeth F Neufeld Victor A McKusick

Am J Med Genet A 2008 Feb;146A(4):512-3

Greenwood Genetic Center, Greenwood, South Carolina 29646, USA.

View Article and Find Full Text PDF
February 2008