BethPletcherMD

PubMed

• Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis.
  Eeshan Khurana, Jennifer Orth, Catherine A Mazzola, Beth Pletcher, Roger E Turbin> ;Child's Nervous System. 2024 Apr 22
• Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
  Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese...> ;Nature Genetics. 2024 Mar 1
• Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
  Rameen Shah, Christin Johnsen, Beth A Pletcher, Andrew C Edmondson, Tamas Kozicz, Eva Morava> ;American Journal of Medical Genetics. Part A. 2023 Jun 1
• 5 citations
  Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder.
  Maria B Christensen, Amanda M Levy, Nazanin A Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valérie Benoit, Kailash P ...> ;Clinical Genetics. 2022 Aug 1
• A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome.
  Ravi Upadhyay, Claire Ruane, Rachel Umans, Beth A Pletcher, Aditi Khokhar, Kristin Wong> ;Case Reports in Endocrinology. 2022 Jan 1
• 9 citations
  MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects.
  Juliette Coursimault, Anne-Marie Guerrot, Michelle M. Morrow, Catherine Schramm, Francisca Millan Zamora, Anita Shanmugham, Shuxi Liu, Fanggeng Zou, Frédéric Bilan, Gw...> ;Human Genetics. 2021 Nov 8
• Natural Progression and Symptomatic Management of Tarsal-Carpal Coalition Syndrome: A Case Report.
  Ari R Berg, Beth A. Pletcher, O. Folorunsho Edobor-Osula> ;JBJS Case Connector. 2021 Oct 27
• 3 citations
  Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
  Megan Yabumoto, Jessica Kianmahd, Meghna Singh, Maria F. Palafox, Angela Wei, Kathryn Elliott, Dana H. Goodloe, S. Joy Dean, Catherine Gooch, Brianna K. Murray, Erin S...> ;Molecular Genetics & Genomic Medicine. 2021 Sep 14
• 4 citations
  A trauma-informed approach to the pediatric COVID-19 response.
  Binny Chokshi, Beth A. Pletcher, Joshua S. Strait> ;Current Problems in Pediatric and Adolescent Health Care. 2021 Feb 1
• 1 citations
  Pulmonary Manifestations of Genetic Disorders in Children.
  Beth A. Pletcher, Nelson L. Turcios> ;Pediatric Clinics of North America. 2021 Feb 1
• 4 citations
  46,XY DSD and limb abnormalities in a female with a de novo LHX9 missense mutation
  Mia Kunitomo, Aditi Khokhar, Christina Kresge, Folorunsho Edobor-Osula, Beth A. Pletcher> ;American Journal of Medical Genetics. Part A. 2020 Sep 19
• 23 citations
  Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions
  Bobby G. Ng, Erik A. Eklund, Sergey A. Shiryaev, Yin Y Dong, Mary-Alice Abbott, C. G. Asteggiano, Michael J. Bamshad, Eileen Barr, Jonathan A. Bernstein, Shabeed Chela...> ;Journal of Inherited Metabolic Disease. 2020 Jul 18
• 7 citations
  Beyond circles and squares: A commentary on updating pedigree nomenclature to better represent patient diversity.
  Allysa Tuite, Michelle Dalla Piazza, Kristyn Brandi, Beth A. Pletcher> ;Journal of Genetic Counseling. 2020 Feb 27
• 2 citations
  Vertebral artery aneurysm rupture and hemothorax in a patient with neurofibromatosis Type-1: A case report and review of the literature
  Hael F. Abdulrazeq, Ira M. Goldstein, Samer T. Elsamna, Beth A. Pletcher> ;Heliyon. 2019 Aug 1
• 33 citations
  Adverse Childhood Experiences: A Case-Based Workshop Introducing Medical Students to Trauma-Informed Care
  Beth A. Pletcher, Mary Jane O'connor, Mary Elizabeth Swift-Taylor, Michelle DallaPiazza> ;Mededportal. 2019 Feb 9
• 7 citations
  A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin.
  Venkatraman Thulasi, Aravindhan Veerapandiyan, Beth A. Pletcher, Chun M Tong, Xue Ming> ;Child Neurology Open. 2017 Jan 1
• 9 citations
  A Quality Improvement Collaborative to Improve Pediatric Primary Care Genetic Services
  Michael L. Rinke, Amy Driscoll, Natalie Mikat-Stevens, Jill A. Healy, Elizabeth Colantuoni, Abdallah F. Elias, Beth A. Pletcher, Ruth S. Gubernick, Ingrid A. Larson, W...> ;Pediatrics. 2016 Feb 1
• 1 citations
  Unraveling Gene Interactions in Patients with Neurofibromatosis Type 1.
  Beth A. Pletcher, Caroline Hayes-Rosen> ;The Journal of Pediatrics. 2015 Sep 1
• 61 citations
  Enhancing Pediatric Workforce Diversity and Providing Culturally Effective Pediatric Care: Implications for Practice, Education, and Policy Making
  Beth A. Pletcher, Mary E. Rimsza, William T. Basco, Andrew J. Hotaling, Ted D. Sigrest, Frank A. Simon> ;Pediatrics. 2013 Oct 1
• 41 citations
  Pediatric Resident Debt and Career Intentions
  Mary Pat Frintner, Holly J. Mulvey, Beth A. Pletcher, Lynn M. Olson> ;Pediatrics. 2013 Feb 1
• 3 citations
  Tetrasomy 15q26: a distinct syndrome or Shprintzen-Goldberg syndrome phenocopy?
  Brynn Levy, David Tegay, Peter Papenhausen, James Tepperberg, Odelia Nahum, Tammy Tsuchida, Beth A. Pletcher, Leena Ala-Kokko, Stuart Baker, Barbara Frederick, Kurt Hi...> ;Genetics in Medicine. 2012 May 31
• 3 citations
  Diffuse Peritoneal Chlamydial Infection Presenting as Possible Ovarian Peritoneal Carcinomatosis in an Adolescent Female
  Sheetal D. Sran, Allison S. Mautone, Anton M. Kolomeyer, Bernadette Cracchiolo, Debra S. Heller, Beth A. Pletcher> ;The Journal of Adolescent Health. 2012 May 1
• 2 citations
  Pulmonary complications of genetic disorders.
  Beth A. Pletcher, Nelson L. Turcios> ;Paediatric Respiratory Reviews. 2012 Mar 1
• 96 citations
  Primary care pediatricians' satisfaction with subspecialty care, perceived supply, and barriers to care.
  Beth A. Pletcher, Mary E. Rimsza, William L. Cull, Scott A. Shipman, Richard P. Shugerman, Karen G. O'Connor> ;The Journal of Pediatrics. 2010 Jun 1
• 1 citations
  Cytogenetics of neurofibromas: two case reports and literature review.
  Kenian Liu, Patricia DeAngelo, Kathleen Mahmet, Penny Phytides, Lisa Osborne, Beth A. Pletcher> ;Cancer Genetics and Cytogenetics. 2010 Jan 1
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