GeorgianneLArnoldMD

PubMed

• Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase de...
  Melanie B Gillingham, Dongseok Choi, Ashley Gregor, Nida Wongchaisuwat, Danielle Black, Hannah L Scanga, Ken K Nischal, Mark E Pennesi, Jose-Alain Sahel, Georgianne Ar...> ;Journal of Inherited Metabolic Disease. 2024 Apr 16
• A proposal for an updated staging system for LCHADD retinopathy.
  Nida Wongchaisuwat, Melanie B Gillingham, Paul Yang, Lesley Everett, Ashley Gregor, Cary O Harding, Jose Alain Sahel, Ken K Nischal, Hannah L Scanga, Danielle Black, J...> ;Ophthalmic Genetics. 2024 Apr 1
• 7 citations
  Outcomes and genotype correlations in patients with mitochondrial trifunctional protein or isolated long chain 3-hydroxyacyl-CoA dehydrogenase deficiency enrolled in t...
  Chelsey Chaehee Lim, Jerry Vockley, Otobo Ujah, Russell S Kirby, Mathew J Edick, Susan A Berry, Georgianne L Arnold> ;Molecular Genetics and Metabolism Reports. 2022 Sep 1
• 6 citations
  Making Decisions About Krabbe Disease Newborn Screening.
  Samantha A Schrier Vergano, Shibani Kanungo, Georgianne Arnold> ;Pediatrics. 2022 Apr 1
• 11 citations
  Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria.
  Deborah A. Bilder, Georgianne L. Arnold, David Dimmock, Mitzie Grant, Darren Janzen, Nicola Longo, Mina Nguyen-Driver, Elaina Jurecki, Markus Merilainen, Gianni Amato,...> ;American Journal of Medical Genetics. Part A. 2021 Nov 26
• Metabolic providers in crisis - Burning out on the road to burnout?
  Georgianne L. Arnold, Shibani Kanungo, Lynn Bush> ;Molecular Genetics and Metabolism. 2021 Nov 16
• Successful orthotopic heart transplantation in CPTII deficiency.
  Georgianne L. Arnold, Jessie W. Yester, Elizabeth McCracken, Brian D. Feingold, Jerry Vockley> ;Molecular Genetics and Metabolism. 2021 Apr 28
• 1 citations
  Neurocognitive, neuropsychiatric, and neurological outcomes associated with phenylalanine hydroxylase deficiency: Assessment considerations for nurse practitioners.
  Tracy Brock Lowe, Jane DeLuca, Georgianne L. Arnold> ;Journal for Specialists in Pediatric Nursing. 2021 Jan 1
• 6 citations
  Similarities and differences in key diagnosis, treatment, and management approaches for PAH deficiency in the United States and Europe
  Tracy Brock Lowe, Jane DeLuca, Georgianne L. Arnold> ;Orphanet Journal of Rare Diseases. 2020 Sep 25
• Familial Cerebral Cavernous Malformation Syndrome with Concomitant Fourth Ventricular Ependymoma: True Association or Mere Coincidence?
  Hanna Algattas, Hussam Abou-Al-Shaar, Michael Mendelson, Georgianne L. Arnold, James Felker, Julia Meade, Stephanie Greene> ;Cancer Genetics. 2020 Jun 1
• 6 citations
  Four children with postnatally diagnosed mosaic trisomy 12: Clinical features, literature review, and current diagnostic capabilities of genetic testing.
  Jie Hu, Zhishuo Ou, Urvashi Surti, Sally J. Kochmar, Lori Hoffner, Suneeta Madan-Khetarpal, Georgianne L. Arnold, Leslie Walsh, Roxanne Acquaro, Jessica Sebastian, Sve...> ;American Journal of Medical Genetics. Part A. 2020 Jan 8
• 10 citations
  Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism : Implications for precision medicine driven diagnosis and treatment
  Jerry Vockley, Steven F. Dobrowolski, Georgianne L. Arnold, Ruben Bonilla Guerrero, David A. Weinstein> ;Molecular Genetics and Metabolism. 2019 Sep 1
• 52 citations
  PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights
  Devon L. Johnstone, Hilal H. Al-Shekaili, Maja Tarailo-Graovac, Nicole I. Wolf, Autumn S Ivy, Scott Demarest, Yann Roussel, Jolita Ciapaite, Carlo W.T. van Roermund, K...> ;Brain. 2019 Mar 1
• 61 citations
  Amino acid disorders
  Ermal Aliu, Shibani Kanungo, Georgianne L. Arnold> ;Annals of Translational Medicine. 2018 Dec 1
• 23 citations
  Inborn errors of metabolism in the 21st century: past to present.
  Georgianne L. Arnold> ;Annals of Translational Medicine. 2018 Dec 1
• 33 citations
  Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations
  Xia Wang, Wu Lin Charng, Chun-An Chen, Jill A. Rosenfeld, Aisha Al Shamsi, Lihadh Al-Gazali, Marianne McGuire, Nicholas Ah Mew, Georgianne L. Arnold, Chunjing Qu, Yan ...> ;Nature Genetics. 2017 Apr 1
• 12 citations
  221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.
  Kristi Bentler, Shaohui Zhai, Sara A. Elsbecker, Georgianne L. Arnold, Barbara K. Burton, Jerry Vockley, Cynthia A. Cameron, Sally J. Hiner, Mathew J. Edick, Susan A. ...> ;Molecular Genetics and Metabolism. 2016 Sep 1
• 53 citations
  Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
  Loren D.M. Pena, Sandra C. Van Calcar, Joyanna Hansen, Mathew J. Edick, Cate Walsh Vockley, Nancy D. Leslie, Cynthia A. Cameron, Al-Walid Mohsen, Susan A. Berry, Georg...> ;Molecular Genetics and Metabolism. 2016 Aug 1
• 109 citations
  Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
  Johannes R. Lemke, Kirsten Geider, Katherine L. Helbig, Henrike O. Heyne, Hannah Schütz, Julia Hentschel, Carolina Courage, Christel Depienne, Caroline Nava, Delphine ...> ;Neurology. 2016 Jun 7
• 71 citations
  Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State
  Melissa P. Wasserstein, Mary R. Andriola, Georgianne L. Arnold, Alan M. Aron, Patricia K. Duffner, Richard W. Erbe, Maria L. Escolar, Lissette Estrella, Patricia Galvi...> ;Genetics in Medicine. 2016 May 12
• 12 citations
  Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System
  RaeLynn Forsyth, Catherine Walsh Vockley, Mathew J. Edick, Cynthia A. Cameron, Sally J. Hiner, Susan A. Berry, Jerry Vockley, Georgianne L. Arnold> ;Molecular Genetics and Metabolism. 2016 May 1
• 69 citations
  Newborn screening for Krabbe disease in New York State: the first eight years' experience.
  Joseph J. Orsini, Denise M. Kay, Carlos A. Saavedra-Matiz, David A. Wenger, Patricia K. Duffner, Richard W. Erbe, Chad K. Biski, Monica Martin, Lea M. Krein, Matthew N...> ;Genetics in Medicine. 2016 Mar 1
• 4 citations
  Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.
  Bharesh K. Chauhan, Jacqueline M. Hoover, Hannah L. Scanga, Anagha Medsinge, Georgianne L. Arnold, Ken K. Nischal> ;Plastic and Reconstructive Surgery. Global Open. 2015 Jul 8
• 30 citations
  Long-term safety and efficacy of sapropterin: The PKUDOS registry experience
  Nicola Longo, Georgianne L. Arnold, Gabriella Pridjian, Gregory M. Enns, Can Ficicioglu, Susan Parker, Jessica L. Cohen-Pfeffer> ;Molecular Genetics and Metabolism. 2015 Apr 1
• 12 citations
  Interstitial 10p11.23-p12.1 microdeletions associated with developmental delay, craniofacial abnormalities, and cryptorchidism.
  Henry J. Mroczkowski, Georgianne L. Arnold, Francis X. Schneck, Aleksandar Rajkovic, Svetlana A. Yatsenko> ;American Journal of Medical Genetics. Part A. 2014 Oct 1
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