PatriciaGalvin-PartonMD

Medical Genetics • East Setauket, NY

Clinical Genetics, Medical Biochemical Genetics

Professor, Pediatrics, Stony Brook University SOM

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Office
37 Research Way
East Setauket, NY 11733
Phone+1 631-444-5437

Fax+1 631-444-8968
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Education & Training

Children's Hospital Los AngelesResidency, Pediatrics, 1982 - 1984
New York Medical CollegeClass of 1980

Certifications & Licensure

CA State Medical License 1981 - Present
NY State Medical License 1989 - 2026
American Board of Medical Genetics and Genomics Clinical Genetics
American Board of Medical Genetics and Genomics Medical Biochemical Genetics

Publications & Presentations

PubMed

7 citations
Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency.
Kim Hart, Andreas Rohrwasser, Heidi Wallis, Heather Golsan, Jianyin Shao, Taylor Anderson, Xiaoli Wang, Nicolas Szabo-Fresnais, Mark A. Morrissey, Denise M. Kay, Matth...> ;Molecular Genetics and Metabolism. 2021 Jul 29
113 citations
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Bar...> ;American Journal of Human Genetics. 2018 Jan 4
37 citations
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Tojo Nakayama, Jiang Wu, Patricia Galvin-Parton, Jody Weiss, Mary R. Andriola, R. Sean Hill, Dylan J. Vaughan, Malak El-Quessny, Brenda J. Barry, Jennifer N. Partlow, ...> ;Human Mutation. 2017 Jun 23
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
119 citations
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan E. Cochran, Mary Alice Abbott, Joan F. Atkin, Dusica Babovic-Vuk...> ;Human Mutation. 2015 Nov 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
51 citations
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin-Parton, La...> ;Human Mutation. 2008 Nov 1
12 citations
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.
TL Hoffman, E Blanco, A Lane, Patricia Galvin-Parton, I Gadi, René Santer, D DeLeón, Charles A. Stanley, TA Wilson> ;Clinical Genetics. 2007 Jun 1
17 citations
The genetic basis for bronchopulmonary dysplasia.
Lance A. Parton, Sonya Strassberg, Dajun Qian, Patricia A Galvin-Parton, Ioana A. Cristea> ;Frontiers in Bioscience. 2006 May 1
13 citations
Severe toxicity following induction chemotherapy for acute myelogenous leukemia in a patient with Werner's syndrome
Karen Seiter, Anila Qureshi, Delong Liu, Patricia Galvin-Parton, Muhammad Arshad, Glen Agoliati, Tauseef Ahmed> ;Leukemia & Lymphoma. 2005 Jul 1
40 citations
Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food
Steven Yannicelli, Phyllis B. Acosta, Antonio Velázquez, Hans-Georg O. Bock, Barbara J. Marriage, Thaddeus W. Kurczynski, Marvin E. Miller, Mark S. Korson, Robert D. S...> ;Molecular Genetics and Metabolism. 2003 Sep 1
4 citations
Screening for GALC to make neonatal diagnosis and initial neonatal stem cell treatment with umbilical cord blood
Patricia Galvin-Parton> ;Pediatric Transplantation. 2003 Apr 1
17 citations
Mosaic variegated aneuploidy with growth hormone deficiency and congenital heart defects.
Andrew H. Lane, Naghma J. Aijaz, Patricia Galvin-Parton, Joseph T. Lanman, Robert Mangano, Thomas A. Wilson> ;American Journal of Medical Genetics. 2002 Jul 1
12 citations
Congenital nasal pyriform aperture stenosis associated with central diabetes insipidus.
Mushtaq A. Godil, Patricia Galvin-Parton, Denise Monte, Michele Zerah, Aparna Purandare, Andrew H. Lane, Thomas A. Wilson> ;The Journal of Pediatrics. 2000 Aug 1
102 citations
Mutation Analysis and Embryonic Expression of the HLXB9 Currarino Syndrome Gene
DM Hagan, Alison Ross, Tom Strachan, Sally Ann Lynch, Victor L. Ruiz-Perez, YM Wang, Peter J. Scambler, E Custard, Willie Reardon, S. Hassan, Maximilian Muenke, P Nixo...> ;American Journal of Human Genetics. 2000 May 1
27 citations
Induction of Gαq-specific Antisense RNA in Vivo Causes Increased Body Mass and Hyperadiposity
Patricia Galvin-Parton, Xiaohui Chen, Christopher M. Moxham, Craig C. Malbon> ;The Journal of Biological Chemistry. 1997 Feb 14
Abnormal oligosaccharide pattern in glycogen storage disease type III.
Galvin-Parton, P., Hommes, F. A.> ;J Inherit Metab Dis. 1996
Retinoic acid modulation of transmembrane signaling. Analysis in F9 teratocarcinoma cells.
Galvin-Parton, P. A., Watkins, D. C., Malbon, C. C.> ;J Biol Chem. 1990 Oct 15
Signal transduction via G-protein-linked receptors: physiological regulation from the plasma membrane to the genome.
Malbon, C. C., Berrios, M., Guest, S. J., Hadcock, J. R., Morris, G. M., Galvin-Parton, P. A., Wang, H. Y.> ;Chin J Physiol. 1991
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Hospital Affiliations

Stony Brook University HospitalStony Brook, New York