ElizabethKaitlynBakerMD

PubMed

• Phenotypes and genotypes in a cohort of children with single-ventricle CHD.
  Amy Shikany, David S Winlaw, K Nicole Weaver, Baker, E. K., Elizabeth K Baker> ;Cardiology in the Young. 2024 Apr 1
• RNA sequencing reveals a complete picture of a homozygous missense variant in a patient with VPS13D movement disorder: a case report and review of the literature.
  Elizabeth K Baker, Jingfen Han, William A Langley, Michael A Reott Jr, Barbara E Hallinan, Robert J Hopkin, Wenying Zhang> ;Molecular Genetics and Genomics. 2023 Sep 1
• A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.
  Baker EK, Al Gharaibeh FN, Bove K, Calvo-Garcia MA, Shillington A, VandenHeuvel K, Cortezzo DE> ;American journal of medical genetics. Part A. 2023-03-25
• 1 citations
  Further expansion and confirmation of phenotype in rare loss of YWHAE gene distinct from Miller-Dieker syndrome.
  Elizabeth K Baker, Casey J Brewer, Leonardo Ferreira, Mark Schapiro, Jeffrey Tenney, Heather M Wied, Beth M Kline-Fath, Teresa A Smolarek, K Nicole Weaver, Robert J Ho...> ;American Journal of Medical Genetics. Part A. 2023 Feb 1
• 3 citations
  PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.
  Elizabeth K Baker, Beulah Solivio, Ben Pode-Shakked, Laura Ann Cross, Bonnie Sullivan, Annick Raas-Rothschild, Odelia Chorin, Ortal Barel, Omer Bar-Yosef, Ammar Husami...> ;American Journal of Medical Genetics. Part A. 2022 Nov 1
• 2 citations
  Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.
  Elizabeth K Baker, Elizabeth A Ulm, Alyce Belonis, Diana S Brightman, Barbara E Hallinan, Nancy D Leslie, Alexander G Miethke, Marissa Vawter-Lee, Yaning Wu, Loren D M...> ;Frontiers in Genetics. 2022 Jan 1
• Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.
  Xiaolin Hu, Elizabeth K Baker, Jodie Johnson, Stephanie Balow, Loren D M Pena, Laura K Conlin, Qiaoning Guan, Teresa A Smolarek> ;Molecular Cytogenetics. 2022 Mar 5
• An unusual case of nephrotic syndrome in a microcephalic infant: Questions.
  Elizabeth Baker, Donald Weaver, Susan Massengill, Dana Mittag, Jane Juusola, Laurie Demmer> ;Pediatric Nephrology. 2019 Nov 1
• 1 citations
  An unusual case of nephrotic syndrome in a microcephalic infant: Answers.
  Elizabeth Baker, Donald Weaver, Susan Massengill, Dana Mittag, Jane Juusola, Laurie Demmer> ;Pediatric Nephrology. 2019 Nov 1
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Journal Articles

• Association of Diet, Vitamin D Status, and Race/Ethnicity on Body Composition of Young Children (4 to 6 Years Old) Living in Southeastern United States  
  Elizabeth K Baker, Wei Wei, Judith R Shary, Myla D Ebeling, Bruce W Hollis, and Carol L Wagner, Journal of Nutrition & Food Sciences, 2018