Sara S Cathey

Sara S Cathey

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Sara S Cathey

Sara S Cathey

Publications by authors named "Sara S Cathey"

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15Publications

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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.

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http://dx.doi.org/10.1002/jmd2.12073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6850974PMC
November 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.

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http://dx.doi.org/10.1038/s41436-019-0454-9DOI Listing
September 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.

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http://dx.doi.org/10.1002/humu.23748DOI Listing
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.

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http://dx.doi.org/10.1038/s10038-019-0585-5DOI Listing
June 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.

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http://dx.doi.org/10.1186/s13148-019-0658-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487024PMC
April 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.

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http://dx.doi.org/10.1097/MCD.0000000000000249DOI Listing
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.

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http://dx.doi.org/10.1093/brain/awy173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061686PMC
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.

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http://dx.doi.org/10.1111/pde.13119DOI Listing
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.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.04.001DOI Listing
September 2016

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.

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http://dx.doi.org/10.1016/j.bbmt.2014.06.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4194244PMC
November 2014

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.

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http://dx.doi.org/10.1002/ajmg.a.36668DOI Listing
September 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.

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http://dx.doi.org/10.1038/ejhg.2013.207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3992569PMC
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.

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http://dx.doi.org/10.1002/ajmg.a.35698DOI Listing
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.

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http://dx.doi.org/10.1043/2010-0236-CR.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4188553PMC
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.

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http://dx.doi.org/10.1002/ajmg.a.32193DOI Listing
February 2008