AndreaSeeleyMD

PubMed

• 23 citations
  Axenfeld-Rieger syndrome: more than meets the eye.
  Linda M Reis, Mohit Maheshwari, Jenina Capasso, Huban Atilla, Lubica Dudakova, Samuel Thompson, Lia Zitano, Guillermo Lay-Son, R Brian Lowry, Jennifer Black, Joseph Le...> ;Journal of Medical Genetics. 2023 Apr 1
• 1 citations
  Orthopaedic Management of Loeys-Dietz Syndrome: A Systematic Review.
  Conor P Lynch, Mira Patel, Andrea H. Seeley, Mark A. Seeley> ;Journal of the American Academy of Orthopaedic Surgeons. Global Research & Reviews. 2021 Nov 15
• 13 citations
  CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity
  Michelle E. Ernst, Evan H. Baugh, Amanda Thomas, Louise Bier, Natalie Lippa, Nicholas Stong, Maureen S. Mulhern, Sulagna Kushary, Cigdem I. Akman, Erin L. Heinzen, Ray...> ;Epilepsia. 2021 May 26
• 1 citations
  Hip Dysplasia and Osteogenesis Imperfecta: A Case Report.
  Mark Mandel, Kaitlin Saloky, William Mirenda, Andrea H. Seeley, Mark A. Seeley> ;JBJS Case Connector. 2020 Oct 20
• 11 citations
  Cancers from Novel Pole-Mutant Mouse Models Provide Insights into Polymerase-Mediated Hypermutagenesis and Immune Checkpoint Blockade.
  Melissa Galati, Karl P. Hodel, Miki S. Gams, Sumedha Sudhaman, Taylor Bridge, Walter J. Zahurancik, Nathan Ungerleider, Vivian S. Park, Ayse Bahar Ercan, Lazar Joksimo...> ;Cancer Research. 2020 Dec 15
• 9 citations
  Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- ...
  Juliann M. Savatt, Jennifer K. Wagner, Steven Joffe, Alanna Kulchak Rahm, Marc S. Williams, Angela R. Bradbury, F. Daniel Davis, Julie Hergenrather, Yirui Hu, Melissa ...> ;BMC Pediatrics. 2020 May 15
• 10 citations
  GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
  Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingri...> ;Genetics in Medicine. 2020 May 1
• 2 citations
  Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
  Christine Shieh, Natasha Jones, Brigitte Vanle, Margaret Au, Alden Y Huang, Ana P G Silva, Hane Lee, Emilie D Douine, Maria G Otero, Andrew Choi, Katheryn Grand, Ingri...> ;Genetics in Medicine. 2020 Apr 1
• 16 citations
  SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes
  Jung-Hyun Kim, Eun Young Park, David Chitayat, David L. Stachura, Jörg Schaper, Kristin Lindstrom, Tamison Jewett, Dagmar Wieczorek, Jos M. T. Draaisma, Margje Sinnema...> ;Kidney International. 2019 Jun 1
• 24 citations
  Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue
  Andrew Y. Shuen, Stella Lanni, Gagan B. Panigrahi, Melissa Edwards, Lisa Yu, Brittany Campbell, Ariane Mandel, Cindy Zhang, Nataliya Zhukova, Musa Alharbi, Mark L. Ber...> ;Journal of Clinical Oncology. 2019 Jan 4
• 34 citations
  Mutation update for the SATB2 gene
  Yuri A. Zarate, Katherine A. Bosanko, Aisling R. Caffrey, Jonathan A. Bernstein, Donna M. Martin, Marc S. Williams, Elizabeth Berry-Kravis, Paul R. Mark, Melanie A. Ma...> ;Human Mutation. 2019 Jan 1
• 12 citations
  The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
  Karen E. Wain, Emily Palen, Juliann M. Savatt, Devin Shuman, Brenda M Finucane, Andrea Seeley, Thomas D. Challman, Scott M. Myers, Christa Lese Martin> ;Human Mutation. 2018 Nov 1
• 69 citations
  De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Human Genetics. 2016 Sep 1
• 1 citations
  Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
  Shane C. Quinonez, Andrea H. Seeley, Cindy Lam, Thomas W. Glover, Bruce A. Barshop, Catherine E. Keegan> ;JIMD Reports. 2016 Aug 13
• 8 citations
  Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion
  Andrea H. Seeley, Mark A. Durham, Mark Micale, Jeffrey R. Wesolowski, Bradley R. Foerster, Donna M. Martin> ;American Journal of Medical Genetics. Part A. 2014 Aug 1
• 5 citations
  Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
  Shane C. Quinonez, Andrea H. Seeley, Mary Seeterlin, Eleanor Stanley, Ayesha Ahmad> ;Molecular Genetics and Metabolism Reports. 2014 Jan 1
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