PamelaH.ArnMD

PubMed

• 2 citations
  Mutation: A Genetic Cause of Multifocal Combined Dystonia.
  Jessica Frey, Matthew R Burns, Shannon Y Chiu, Aparna Wagle Shukla, Ahmad El Kouzi, Jessica Jackson, Pamela H Arn, Irene A Malaty> ;Movement Disorders Clinical Practice. 2022 Apr 1
• 5 citations
  Phenotypic variability in deficiency of the α subunit of succinate-CoA ligase.
  Didem Demirbas, David J. Harris, Pamela Arn, Xiaoping Huang, Susan E. Waisbren, Irina Anselm, Jordan P Lerner-Ellis, Lee-Jun C. Wong, Harvey L. Levy, Gerard T. Berry> ;JIMD Reports. 2019 Mar 14
• 63 citations
  Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Priya S. Kishnani, Jennifer L. Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach, Deeksha Bali, Wendy K. Chung, Areeg El-Gharbawy, Laurie M. Brown, Stephen G. Kah...> ;Genetics in Medicine. 2019 Jan 19
• 34 citations
  Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I
  Pamela Arn, Iain A. Bruce, James E. Wraith, Helen Travers, Shari Fallet> ;The Annals of Otology, Rhinology, and Laryngology. 2015 Mar 1
• 248 citations
  Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics
  Priya S. Kishnani, Stephanie Austin, Jose E. Abdenur, Pamela Arn, Deeksha Bali, Anne Boney, Wendy K. Chung, Aditi I Dagli, David C. Dale, Dwight D. Koeberl, Michael J....> ;Genetics in Medicine. 2014 Nov 1
• 107 citations
  The natural history of MPS I: global perspectives from the MPS I Registry
  Michael Beck, Pamela Arn, Roberto Giugliani, Joseph Muenzer, Torayuki Okuyama, John S. Taylor, Shari Fallet> ;Genetics in Medicine. 2014 Oct 1
• 194 citations
  Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
  Alexander J Doyle, Jefferson J. Doyle, Seneca L. Bessling, Samantha Maragh, Mark E. Lindsay, Dorien Schepers, Elisabeth Gillis, Geert Mortier, Tessa Homfray, Kimberly ...> ;Nature Genetics. 2012 Nov 1
• 17 citations
  High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry
  Pamela Arn, Chester B. Whitley, J. Edmond Wraith, H. Warner Webb, Lisa H. Underhill, Lakshmi Rangachari, Gerald F. Cox> ;Journal of Pediatric Surgery. 2012 Mar 1
• 155 citations
  Glycogen Storage Disease Type III diagnosis and management guidelines
  Priya S. Kishnani, Stephanie Austin, Pamela Arn, Deeksha Bali, Anne Boney, Laura E. Case, Wendy K. Chung, Dev M. Desai, Areeg El-Gharbawy, Ronald G. Haller, G. Peter A...> ;Genetics in Medicine. 2010 Jul 1
• 125 citations
  Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
  Ludwine Messiaen, S. Yao, Hilde Brems, Tom Callens, Achara Sathienkijkanchai, Ellen Denayer, Emily Spencer, Pamela Arn, Dusica Babovic-Vuksanovic, Carolyn Bay, Gary Bo...> ;JAMA. 2009 Nov 18
• 12 citations
  Education format and resource preferences among registrants of a pediatric-focused CME website.
  Jason J. Olivieri, Melissa B Knoll, Pamela Arn> ;Medical Teacher. 2009 Sep 9
• 37 citations
  Characterization of Surgical Procedures in Patients with Mucopolysaccharidosis Type I: Findings from the MPS I Registry
  Pamela Arn, J. Edmond Wraith, Lisa H. Underhill> ;The Journal of Pediatrics. 2009 Jun 1
• 140 citations
  The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.
  Gregory M. Pastores, Pamela Arn, Michael Beck, Joe T.R. Clarke, Nathalie Guffon, Paige Kaplan, Joseph Muenzer, Denise Y. J. Norato, Elsa Shapiro, Janet A. Thomas, Davi...> ;Molecular Genetics and Metabolism. 2007 May 1
• 24 citations
  Newborn Screening: Current Status
  Pamela Arn> ;Health Affairs. 2007 Mar 1
• 5 citations
  3-methylglutaconic aciduria disorders: the clinical spectrum increases.
  Pamela Arn, Vicky L. Funanage> ;Journal of Pediatric Hematology/oncology. 2006 Feb 1
• 13 citations
  Spectrum of phenotypic manifestations from a single point mutation of the p63 gene, including new cutaneous and immunologic findings.
  Jennifer A. Steele, Heather Hansen, Pamela Hawks Arn, Pearl Kwong> ;Pediatric Dermatology. 2005 Sep 1
• 134 citations
  Hepatocellular carcinoma in glycogen storage disease type Ia: A case series
  Luis M. Franco, V. Krishnamurthy, Deeksha Bali, D. A. Weinstein, Pamela Arn, Bryan M. Clary, Anne Boney, Jennifer A. Sullivan, Donald P. Frush, Yuan-Tsong Chen, Priya ...> ;Journal of Inherited Metabolic Disease. 2005 Apr 1
• 3 citations
  Galactosemia
  Pamela Arn> ;Current Treatment Options in Neurology. 2003 Jul 1
• 2 citations
  Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutati...
  Maryann L. Huie, J. S. Kasper, Pamela Arn, Cheryl R. Greenberg, Rochelle Hirschhorn> ;American Journal of Medical Genetics. 1999 Jul 2
• 37 citations
  Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydrata...
  Beat Thöny, F. Neuheiser, L. Kierat, M. Blaskovics, Pamela Arn, Patrick Ferreira, Igor Rebrin, June E. Ayling, Nenad Blau> ;American Journal of Human Genetics. 1998 Jun 1
• 12 citations
  Methylenetetrahydrofolate reductase deficiency in a patient with phenotypic findings of Angelman syndrome.
  Pamela Arn, Charles A. Williams, Roberto T. Zori, Daniel J. Driscoll, David S. Rosenblatt> ;American Journal of Medical Genetics. 1998 May 18
• 18 citations
  Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature
  Pamela Hawks Arn, Linda Younie, Suzanne Russo, Joleen L. Zackowski, Carl Mankinen, Laurel L. Estabrooks> ;American Journal of Medical Genetics. 1995 Jul 3
• 41 citations
  SRVX, a sex reversing locus in Xp21.2-->p22.11.
  Pamela Arn, Harold Chen, Cathy M. Tuck-Muller, Carl Mankinen, Gwendolyn Wachtel, Shibo Li, C. C. Shen, Stephen S. Wachtel> ;Human Genetics. 1994 Apr 1
• 19 citations
  Mild mandibulofacial dysostosis in a child with a deletion of 3p.
  Pamela Hawks Arn, Carl Mankinen, Ethylin Wang Jabs> ;American Journal of Medical Genetics. 1993 Jun 15
• 1 citations
  Analysis of DNA restriction fragments greater than 5.7 Mb in size from the centromeric region of human chromosomes.
  Pamela Hawks Arn, Xiang Li, Cynthia L. Smith, Mei Hsu, David C. Schwartz, Ethylin Wang Jabs> ;Mammalian Genome. 1991 Jan 1
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