KatherineBarnesAbellMD

PubMed

• High-depth next-generation sequencing panel testing in the evaluation of arteriovenous malformations.
  Katherine A King, Michael J Evenson, Meagan M Corliss, Molly C Schroeder, Jonathan W Heusel, Julie A Neidich, Yang Cao, Hernandez, P.> ;American Journal of Medical Genetics. Part A. 2023 Jun 1
• 11 citations
  Factors affecting pathways to care for children and adolescents with complex vascular malformations: parental perspectives.
  Bryan A Sisk, Anna Kerr, Katherine A King> ;Orphanet Journal of Rare Diseases. 2022 Jul 15
• 3 citations
  Pathogenic variant in NFIA associated with subdural hematomas mimicking nonaccidental trauma.
  Parith Wongkittichote, Jamie S Kondis, Lindsay M Peglar, Jennifer M Strahle, Michelle Miller-Thomas, Abell, K.> ;American Journal of Medical Genetics. Part A. 2022 May 1
• Clinical and molecular characteristics of a novel rarevariant inin a patient with a developmental disorder, autism, and epilepsy.
  Iris Verbinnen, Sara S Procknow, Lisa Lenaerts, Sara Reynhout, Aujan Mehregan, Chris Ulens, Veerle Janssens, Katherine A King> ;Frontiers in Cell and Developmental Biology. 2022 Jan 1
• 5 citations
  Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey.
  Katherine Abell, Robert J. Hopkin, Patricia L. Bender, Farrah Jackson, Kelly Smallwood, Bonnie Sullivan, Rolf W. Stottmann, Howard M. Saal, K. Nicole Weaver> ;American Journal of Medical Genetics. Part A. 2021 Feb 1
• 4 citations
  Case Report: Is Catatonia a Clinical Feature of the Natural Progression of NLGN2-Related Neurodevelopmental Disorder?
  Amelle Shillington, Martine Lamy, Marissa Vawter-Lee, Craig A. Erickson, Howard M. Saal, Davide Comoletti, Katherine Abell> ;Journal of Autism and Developmental Disorders. 2021 Jan 1
• 4 citations
  Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
  Katherine Abell, Sarah E. Chadwell, Thomas A. Burrow, Ana Paula Pizzio Becker, Laurie Bailey, Paul Steele, Xue Zhang, Miguel Islas-Ohlmayer, Rosane Bittencourt, Ida Va...> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2020 Dec 5
• 1 citations
  XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing
  Ahlee Kim, Katherine Abell, Jodie Johnson, Stephanie Cizek, Lesley Breech, Michelle M. Ernst, Robert J. Hopkin, Kimberly Kennedy, Jerzy Stanek, Andrew C. Strine, Meila...> ;Pediatrics. 2020 Oct 1
• 1 citations
  Prenatal diagnosis of Proteus syndrome: Diagnosis of an AKT1 mutation from amniocytes
  Katherine Abell, Leandra K. Tolusso, Nicki Smith, Robert J. Hopkin, Marissa Vawter-Lee, Mounira Habli, Stefanie Riddle, Maria A. Calvo-Garcia, Qiaoning Guan, Karin S. ...> ;Birth Defects Research. 2020 Sep 15
• 6 citations
  Fetal alcohol spectrum disorders and assessment of maxillary and mandibular arc measurements.
  Katherine Abell, Warren L. May, Philip A. May, Wendy O. Kalberg, H. Eugene Hoyme, Luther K. Robinson, Melanie A. Manning, Kenneth L. Jones, Omar A. Abdul-Rahman> ;American Journal of Medical Genetics. Part A. 2016 Jul 1
• 10 citations
  Gastric dysmotility and low serum vitamin D levels in patients with gastroparesis.
  Archana Kedar, Yana Nikitina, O. R. Henry, Katherine Abell, Vetta Vedanarayanan, Michael Griswold, Charulochana Subramony, Thomas L. Abell> ;Hormone and Metabolic Research = Hormon- Und Stoffwechselforschung = Hormones Et Metabolisme. 2012 Sep 6
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