JoanElizabethPellegrinoMD

PubMed

• A diagnosis of Birt-Hogg-Dubé syndrome in individuals with Smith-Magenis syndrome: Recommendation for cancer screening.
  Cathy D Vocke, Leah R Fleming, Anna M Piskorski, Ali Amin, Chanika Phornphutkul, Suzanne de la Monte, Thierry Vilboux, Folami Duncan, Joan Pellegrino, Bonnie Braddock,...> ;American Journal of Medical Genetics. Part A. 2023 Feb 1
• 34 citations
  The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
  Adam J. Guenzel, Coleman T. Turgeon, Kim K. Nickander, Amy L. White, Dawn Peck, Gisele Pino, April Studinski, Vinod K. Prasad, Joanne Kurtzberg, Maria L. Escolar, Mari...> ;Genetics in Medicine. 2020 Feb 24
• 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
• 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
• 81 citations
  Newborn screening for X-linked adrenoleukodystrophy in New York State: Diagnostic protocol, surveillance protocol and treatment guidelines
  Beth Vogel, S. E. Bradley, Darius J. Adams, Kristin D'Aco, Richard W. Erbe, Chin-To Fong, A. Iglesias, David Kronn, P. Levy, Mark A. Morrissey, Joseph J. Orsini, P. Pa...> ;Molecular Genetics and Metabolism. 2015 Apr 1
• 8 citations
  Diagnostic Exome Sequencing and Tailored Bioinformatics of the Parents of a Deceased Child with Cobalamin Deficiency Suggests Digenic Inheritance of the MTR and LMBRD1...
  Kelly Gonzalez, Xiang Li, Hsiao-Mei Lu, Hong Lu, Joan E. Pellegrino, Ryan Miller, Wenqi Zeng, Elizabeth C. Chao> ;JIMD Reports. 2014 Mar 25
• 10 citations
  Myoclonus‐dystonia syndrome associated with Russell Silver syndrome
  Erika F. Augustine, Joanna S. Blackburn, Joan E. Pellegrino, Ryan Miller, Jonathan W. Mink> ;Movement Disorders. 2013 Jun 1
• 45 citations
  Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
  Georgianne L. Arnold, Carlos A. Saavedra-Matiz, Patricia Galvin-Parton, Richard W. Erbe, Ellen DeVincentis, David Kronn, Shideh Mofidi, Melissa P. Wasserstein, Joan E....> ;Molecular Genetics and Metabolism. 2010 Mar 1
• 138 citations
  Newborn screening for Krabbe disease: the New York State model.
  Patricia K. Duffner, Michele Caggana, Joseph J. Orsini, David A. Wenger, Marc C. Patterson, Carl J. Crosley, Joanne Kurtzberg, Georgianne L. Arnold, Maria L. Escolar, ...> ;Pediatric Neurology. 2009 Apr 1
• 37 citations
  Postpartum "psychosis" in mild argininosuccinate synthetase deficiency.
  Gregory M. Enns, William E. O'brien, Keiko Kobayashi, Haruhide Shinzawa, Joan E. Pellegrino> ;Obstetrics and Gynecology. 2005 May 1
• 4 citations
  Oculo‐palatal‐cerebral syndrome: A second case
  Joan E. Pellegrino, J. Mark Engel, Donna Chavez, Debra Day-Salvatore> ;American Journal of Medical Genetics. 2001 Mar 15
• 23 citations
  Hepatic hemangioendothelioma: prenatal sonographic findings and evolution of the lesion.
  N B Meirowitz, Edwin R. Guzman, Sharon J. Underberg-Davis, Joan E. Pellegrino, Anthony M. Vintzileos> ;Journal of Clinical Ultrasound. 2000 Jun 1
• 62 citations
  Clinical nosologic and genetic aspects of Joubert and related syndromes.
  Phillip F. Chance, Laurent Cavalier, Daniel Satran, Joan E. Pellegrino, Michel Koenig, William B. Dobyns> ;Journal of Child Neurology. 1999 Oct 1
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