ElizabethSellarsMD

PubMed

• 11 citations
  Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children’s Hospital
  Pritmohinder S. Gill, Feliciano B. Yu, Patricia Porter-Gill, Bobby L. Boyanton, Judy C Allen, Jason E. Farrar, Aravindhan Veerapandiyan, Kevin Bielamowicz, Elizabeth A...> ;Journal of Personalized Medicine. 2021 May 11
• 16 citations
  Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
  Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad, Natasha J Brown, Dawn L. Earl, Boris Keren, Olga Levchenko, Sinje Geuer, Sarah Verhe...> ;American Journal of Human Genetics. 2021 May 6
• 51 citations
  Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
  Laura M Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael E. March, Divya Nair, Elliott H. Sherr...> ;Science Advances. 2020 Dec 2
• 16 citations
  NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
  Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan, Senwei Tan, Xiangbin Jia, Wendy K. Chung, Rebecca Hernan, Fowzan S. Alkuraya, Ahood Alsulaima...> ;American Journal of Human Genetics. 2020 Nov 5
• 65 citations
  Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
  Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine A. Bosanko, Dus...> ;Human Mutation. 2020 Jan 1
• 17 citations
  Biallelic mutations in FDXR cause neurodegeneration associated with inflammation.
  Jesse Slone, Yanyan Peng, Adam C. Chamberlin, Belinda S. Harris, Julie Kaylor, Marie T. McDonald, Monica E. Lemmon, Mays A. El-Dairi, Dmitry Tchapyjnikov, Laura Gonzal...> ;Journal of Human Genetics. 2018 Sep 25
• 48 citations
  Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Constance Smith-Hicks, Carol L. Greene, Mary-Alice Abbott, Victoria Mok Siu, Amy R. U. L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie ...> ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 113 citations
  De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
  Sébastien Küry, Geeske M. van Woerden, Thomas Besnard, Martina Proietti Onori, Xenia Latypova, Meghan C. Towne, Megan T. Cho, Trine Prescott, Melissa A. Ploeg, Stephen...> ;American Journal of Human Genetics. 2017 Nov 2
• 8 citations
  Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
  Yanyan Peng, Deepali N Shinde, C Alexander Valencia, Jun-Song Mo, Jill Rosenfeld, Megan Truitt Cho, Adam Chamberlin, Zhuo Li, Jie Liu, Baoheng Gui, Rachel Brockhage, A...> ;Human Molecular Genetics. 2017 Dec 15
• 46 citations
  Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy
  Daniel P. S. Osborn, Heather L. Pond, Neda Mazaheri, Jeremy Dejardin, Christopher J. Munn, Khaloob Mushref, Edmund Cauley, Isabella Moroni, Maria Barbara Pasanisi, Eli...> ;American Journal of Human Genetics. 2017 Mar 2
• 5 citations
  Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
  Elizabeth A. Sellars, Tonya Balmakund, Katherine A. Bosanko, Brandi L. Nichols, Stephen G. Kahler, Yuri A. Zarate> ;Neuropediatrics. 2016 Nov 22
• 11 citations
  COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse
  Yuri A. Zarate, Rachel Clingenpeel, Elizabeth A. Sellars, Xinyu Tang, Julie Kaylor, Katherine A. Bosanko, Leann E. Linam, Peter H. Byers> ;American Journal of Medical Genetics. Part A. 2016 Jul 1
• 7 citations
  Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum.
  Elizabeth A. Sellars, Bonnie Sullivan, G. Bradley Schaefer> ;Clinical Case Reports. 2016 Jun 10
• 4 citations
  Aortic dilation, genetic testing, and associated diagnoses
  Yuri A. Zarate, Elizabeth A. Sellars, Tiffany Lepard, Xinyu Tang, R. Thomas Collins> ;Genetics in Medicine. 2016 Apr 1
• 18 citations
  Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening
  Derek Wong, Silvia Tortorelli, Lisa R. Bishop, Elizabeth A. Sellars, Lisa A. Schimmenti, Natalie M. Gallant, Carlos E. Prada, Robert J. Hopkin, Nancy D. Leslie, Susan ...> ;Genetics in Medicine. 2016 Feb 1
• 7 citations
  Aortic dilation in pediatric patients
  Yuri A. Zarate, Elizabeth A. Sellars, Tiffany Lepard, Waldemar F. Carlo, Xinyu Tang, R. Thomas Collins> ;European Journal of Pediatrics. 2015 Jun 13
• 39 citations
  Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.
  Yuri A. Zarate, Hazel Perry, Tawfeg Ben-Omran, Elizabeth A. Sellars, Quinn Stein, Mariam Almureikhi, Kirk Simmons, Ophir D. Klein, Jennifer L. Fish, Murray Feingold, J...> ;American Journal of Medical Genetics. Part A. 2015 May 1
• 21 citations
  Cardiovascular and genitourinary anomalies in patients with duplications within the Williams syndrome critical region: phenotypic expansion and review of the literature.
  Yuri A. Zarate, Tiffany Lepard, Elizabeth A. Sellars, Julie Kaylor, Maria P. Alfaro, Charles G. Sailey, G. Bradley Schaefer, R. Thomas Collins> ;American Journal of Medical Genetics. Part A. 2014 Aug 1
• 197 citations
  Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
  Kim M. Keppler-Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E. R. Parker, Cathy Blumhorst, Thomas N. Darling, Laura L. Tosi, Susan M Huson, Richard W. White...> ;American Journal of Medical Genetics. Part A. 2014 Apr 29
• 14 citations
  A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea.
  Elizabeth A. Sellars, Katherine A. Bosanko, Tiffany Lepard, Adolfo D. Garnica, G B Schaefer> ;Seminars in Pediatric Neurology. 2014 Jun 1
• 5 citations
  Variable presentation between a mother and a fetus with Goltz syndrome.
  Elizabeth A. Sellars, Katie Wusik, K. Nicole Weaver, Robert J. Hopkin> ;Prenatal Diagnosis. 2013 Dec 1
• 4 citations
  Severe cervical scoliosis in the fetus
  Carlos E. Prada, Elizabeth A. Sellars, Christine G. Spaeth, Beth M. Kline-Fath, Timothy M. Crombleholme, Robert J. Hopkin> ;Prenatal Diagnosis. 2011 Dec 1
• 12 citations
  Ventricular noncompaction and absent thumbs in a newborn with tetrasomy 5q35.2-5q35.3: an association with Hunter-McAlpine syndrome?
  Elizabeth A. Sellars, Sarah L. Zimmerman, Teresa A. Smolarek, Robert J. Hopkin> ;American Journal of Medical Genetics. Part A. 2011 May 12
• 36 citations
  The H19 Differentially Methylated Region Marks the Parental Origin of a Heterologous Locus without Gametic DNA Methylation
  Kye-Yoon Park, Elizabeth A. Sellars, Alexander Grinberg, Sing-Ping Huang, Karl Pfeifer> ;Molecular and Cellular Biology. 2004 May 1
• Effects of chronic coffee consumption on glucose kinetics in the conscious rat.
  Shearer, J., Sellars, E. A., Farah, A., Graham, T. E., Wasserman, D. H.> ;Can J Physiol Pharmacol. 2007 Aug
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