SaraSCatheyMDFAAP, FACMG

PubMed

• 2 citations
  Genetic Causes of Vascular Malformations and Common Signaling Pathways Involved in Their Formation.
  Aubrey L Rose, Sara S Cathey> ;Dermatologic Clinics. 2022 Oct 1
• 4 citations
  Intellectual functioning in alpha-mannosidosis.
  Sara Cathey, Sara M. Sarasua, Richard J. Simensen, Katie Pietris, Gordon Kimbrell, David Sillence, Callum Wilson, Lucia Horowitz> ;JIMD Reports. 2019 Sep 21
• 37 citations
  The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
  Renata Voltolini Velho, Frederike L. Harms, Tatyana Danyukova, Nataniel Floriano Ludwig, Michael J. Friez, Sara S Cathey, Mirella Filocamo, Barbara Tappino, Nilay Güne...> ;Human Mutation. 2019 Apr 13
• 13 citations
  Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
  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, ...> ;Journal of Human Genetics. 2019 Mar 11
• 5 citations
  Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients.
  Sheela Nampoothiri, Nursel Elcioglu, Süleyman Serdar Koca, Dhanya Yesodharan, Chandrababu Kk, Vinod Krishnan, Meenakshi Bhat, Mohandas Nair K, Natasha Radhakrishnan, M...> ;Clinical Dysmorphology. 2019 Jan 1
• 65 citations
  BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells
  Davor Lessel, Christina Gehbauer, Nuria C. Bramswig, Caroline Schluth-Bolard, Sathish Venkataramanappa, Koen L.I. van Gassen, Maja Hempel, Tobias B. Haack, Anja Bareši...> ;Brain. 2018 Aug 1
• 35 citations
  Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking
  Yuji Kondo, Jianxin Fu, Hua Wang, Christopher Hoover, J. Michael McDaniel, Richard Steet, Debabrata Patra, Jianhua Song, Laura Pollard, Sara S. Cathey, Tadayuki Yago, ...> ;JCI Insight. 2018 Jul 26
• 20 citations
  Phacomatosis Pigmentokeratotica: A Mosaic RASopathy with Malignant Potential.
  Amit Om, Sara S. Cathey, Robert M. Gathings, Michelle Hudspeth, Jennifer A. Lee, Sean Marzolf, Lara Wine Lee> ;Pediatric Dermatology. 2017 May 1
• 1 citations
  Next-Generation Sequencing in the Diagnosis of Juvenile Neuronal Ceroid Lipofuscinosis
  Brita S. Deacon, Jane M. Charles, Edward W. Cheeseman, Sara S. Cathey> ;Pediatric Neurology. 2016 Sep 1
• 20 citations
  Outcomes after hematopoietic stem cell transplantation for children with I-cell disease.
  Troy C. Lund, Sara S. Cathey, Weston P. Miller, Mary Eapen, Martin Andreansky, Christopher C. Dvorak, Jeffrey H. Davis, Jignesh Dalal, Steven M. Devine, Gretchen Eames...> ;Biology of Blood and Marrow Transplantation. 2014 Nov 1
• 11 citations
  Neurodevelopmental delays and macrocephaly in 17p13.1 microduplication syndrome.
  Kathryn Anne Mooneyham, Kenton R. Holden, Sara S. Cathey, Alka Dwivedi, Barbara R. DuPont, Michael J. Lyons> ;American Journal of Medical Genetics. Part A. 2014 Nov 1
• 15 citations
  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 ...
  Sheela Nampoothiri, Dhanya Yesodharan, Gazel Sainulabdin, Dhanyalakshmi Narayanan, Laxmi Devi Padmanabhan, Katta M. Girisha, Sara S. Cathey, Anne De Paepe, Fransiska M...> ;American Journal of Medical Genetics. Part A. 2014 Sep 1
• 16 citations
  A novel intermediate mucolipidosis II/IIIαβ caused by GNPTAB mutation in the cytosolic N-terminal domain.
  Jules G. Leroy, David Sillence, Tim Wood, Jarrod W. Barnes, Robert Roger Lebel, Michael J. Friez, Roger E. Stevenson, Richard Steet, Sara Cathey> ;European Journal of Human Genetics. 2014 May 1
• Clinical utility of the X-chromosome array
  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...> ;American Journal of Medical Genetics. Part A. 2013 Jan 1
• 10 citations
  Mucolipidosis type III α/β: the first characterization of this rare disease by autopsy.
  Darcy A. Kerr, Vincent A. Memoli, Sara S Cathey, Brent T. Harris> ;Archives of Pathology & Laboratory Medicine. 2011 Apr 1
• 31 citations
  The natural history and osteodystrophy of mucolipidosis types II and III.
  Grace David-Vizcarra, Julie Briody, Jenny Ault, Michael Fietz, Janice M. Fletcher, Ravi Savarirayan, Meredith Wilson, James McGill, Matthew S. Edwards, Craig F Munns, ...> ;Journal of Paediatrics and Child Health. 2010 Jun 1
• Mucolipidosis III Alpha/Beta
  Leroy, J. G., Cathey, S. S., Friez, M. J.> ;1993
• 99 citations
  Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
  Sara S. Cathey, Jules G. Leroy, Tim Wood, Karisa Eaves, Richard J. Simensen, Mariko Kudo, Roger E. Stevenson, Michael J. Friez> ;Journal of Medical Genetics. 2010 Jan 1
• 44 citations
  Molecular order in mucolipidosis II and III nomenclature
  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. N...> ;American Journal of Medical Genetics. Part A. 2008 Feb 15
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Journal Articles

• Site-1 Protease Deficiency Causes Human Skeletal Dysplasia Due to Defective Inter-Organelle Protein Trafficking  
  Rodger P McEver, Sara Cathey, Patrick M Gaffney, The Journal of Clinical Investigation
• BCL11B Mutations in Patients Affected by a Neurodevelopmental Disorder with Reduced Type 2 Innate Lymphoid Cells  
  Sara S Cathey, Marwan Shinawi, Brain