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Genetics

Current Research/Publications

 

NYS-DOH                                         

1NYS-DOH/HRSA                           
(Multicenter project – Factors affecting utilization of Public Health Facilities for Genetic and prenatal services in underserved areas of New York State)

NYMAC/NYS-DOH/HRSA              
(Develop Diagnostic and Treatment Protocols and a system for long-term follow-up care for Metabolic diseases incorporated into the expanded NYS Newborn Screening Program)

Studying the Genetics involved in BPD

Development of cut-off values and protocol for detecting infants with MCAD through a newborn screening program – multicenter project
Genotype-Phenotype Correlations in PKU and the impact on Treatment Protocols

Do premature infants who are supplemented with carnitine because of a positive NBS for carnitine deficiency do better in terms of weight gain or decreased apnea than similar premature infants who are screen normal and therefore not supplemented with carnitine.

National Alliance for Autism Research

Pediatric LRP Award
National Institutes of Health

K23; Mentored Patient Oriented Career Development Award (submitted)
                                   
Genomic Copy Number Variation in Autism

Genomic Variation in Developmental Disability

Williams Syndrome Cognitive Phenotype: From Genes to Behavior

Coldspring Harbor Projects:
Studying the Genetic Basis of Floating-Harbor Syndrome and Toriello-Carey Syndrome

Galvin-Parton, P and Anderson, C  – The Genetics of Development, In: Intensive Care of the Fetus and Neonate. Author: Spitzer, Alan R. Published – Updated 2004 Mosby International ISBN: 0801677114

Galvin-Parton, P. (2003) Screening for GALC to make Neonatal Diagnosis and Initial Stem Cell Treatment with Umbilical Cord Blood. Pediatric Transplantation. 2003: 7: 83-85.

Yannicelli S, Acosta PB, Velazquez A, Bock HG, Marriage B, Kurczynski TW, Miller M, Korson M, Steiner RD, Rutledge L, Bernstein L, Chinsky J, Galvin-Parton P, Arnold GL (2003) Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food.  Mol Genet Metab. 2003 Sep-Oct; 80(1-2):181-8.

Wilson TA, Hoffman T, Blanco E, Lane A, Galvin-Parton PA, Santer R, Stanley C (2004) Fanconi Bickel Syndrome with Growth Hormone Deficiency and Hyperammonemia from Uniparental Disomy, In Revision.

Regina Ensenauer,1,2 Jennifer Winters,1 Patricia Parton,4 David Kronn,4 Dietrich Matern, 1,2,3 Piero Rinaldo,1,2,3 Sihoun Hahn1,2,3  (2005) Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. Genet. Med. 2005 May – Jun; 7 (5):339-43.                   

Seiter K, Qureshi A, Liu D, Galvin-Parton P, Arshad M, Agoliati G, Ahmed T. (2005) Severe Toxicity following induction chemotherapy for acute myelogenous leukemia in a patient with Werner’s syndrome. Leuk Lymphoma. 2005 Jul; 46(7):1091-5.

Parton LA, Strassberg SS, Qian D, Galvin-Parton PA, Cristea IA (2006) The genetic basis for bronchopulmonary dysplasia. Front Biosci. 2006 May 1; 11:1854-60.     

Dejhalla M, Parton P, Golombek SG (2006) Case Report of Haddad Syndrome in a Newborn: Congenital Central Hypoventilation Syndrome and Hirschsprung’s Disease.  J Perinatology  2006 Apr;26(4):259-260.
Tegay DH, Lane A, Roohi J, Hatchwell E.  Contiguous Gene Deletion Involving L1CAM and AVPR2 Causes X-Linked Hydrocephalus with Nephrogenic Diabetes Insipidus.  American Journal of Medical Genetics (Accepted for publication, July 2006). 

Patricia A. Galvin-Parton, Davina Prakash, Jennifer Neil, Jody Weiss and Lance A. Parton (2003) Dietary Lifestyles and Pregnancy – What We Have Learned Over The Past Century,  Ped Research 53:753819
Presentation at 2003 Pediatric Academic Societies Meeting,  SPR-APS #753819, May, 2003.

Galvin-Parton, P (2003) Community Follow-Up of Two Infants Delivered Following a Pregnancy Involving PreImplantation Genetic Diagnosis.
Presentation, ICIEM 2003, Brisbane, Australia  (International Metabolic Society)
Journal of Inherited Metabolic Disease 2003 26:202

Galvin-Parton, P (2003) Unexpected Outcomes in Cobalamin Disorders.
Presentation, ICIEM 2003, Brisbane, Australia  (International Metabolic Society)
Journal of Inherited Metabolic Disease 2003 26:201

Parton, P (2004) DeNovo Duplication of Chromosome 3q, Community Follow-up of a Dysmorphic Infant Investigated with Molecular Technology. 
Ped Research 2004 55:1554  Presentation at 2004 Pediatric Academics Societies Meeting, SPR-APS #1554, May, 2004, San Francisco.

David H Tegay, Jody Weiss-Burns, Patricia Galvin-Parton (2005)
Mowatt-Wilson Disease with Unusual Clinical Manifestations. Presented at 2005Annual Meeting ACMG.

Patricia Galvin-Parton, David Kronn (2005) Children Evaluated for MCADD: Parental Experiences.
Presented at SSIEMD, Paris, France 9/05 Journal of Inherited Metabolic Disease 2005 28:206

Galvin-Parton P, Wilson TA, Lane A, Weiss J, Puangco M, Seltzer WK (2006) Congenital Hyperinsulinism – The Value of Mutation Analysis – 10th International Congress of Inborn Errors of Metabolism, Chiba, Japan Journal of Inherited Metabolic Disease 29:223

Galvin-Parton P, Kronn D, Tegay D, Puangco M, Weiss J, Prakash D. (2006) New Technology Changes the Short Range Outcome and Genetic Counseling Advice Provided to Families of Newborns Affected with Inborn Errors of  Cobalamin – 10th International Congress of Inborn Errors of Metabolism, Chiba, Japan Journal of Inherited Metabolic Disease 2006 29:222

Parton LA, Strassberg SS, Cristea IA, Qian D, Ali N, Galvin-Parton PA (2006) Do Tumor Necrosis Factor TNF Polymorphisms Predict BPD? – 10th International Congress of Inborn Errors of Metabolism, Chiba, Japan Journal of Inherited Metabolic Disease 2006 29:303

Galvin-Parton PA, Kronn D, Arnold G (2006) Genotype-Phenotype Correlations in MCADD – 10th International Congress of Inborn Errors of Metabolism, Chiba, Japan Abstract published in Journal of Inherited Metabolic Disease 2006 29:221

Schuman G, Xia W, Savatec M, Tegay DH.  MECP2 gene duplication resulting in severe mental retardation in male twins.  Accepted for presentation at the 2006 American Academy of Child Neurology Meeting.

Tegay DH, Montagna C, Hatchwell E.  Atypical 7q11.23 microdeletion sparing ELN and LIMK1 detected by aCGH in a patient with classical behavioral and dysmorphic features of Williams syndrome.  Presented at the 2006 European Society of Human Genetics Meeting.

Tegay DH, Lane A, Roohi J, Hatchwell E. Contiguous Gene Deletion of L1CAM and AVPR2 Causes X-Linked Hydrocephalus with Nephrogenic Diabetes Insipidus.  Presented at the 2006 American College of Medical Genetics Meeting.

Tegay DH, Weiss-Burns J, Galvin-Parton P. Waardenburg Anophthalmia Syndrome:  Expanding theSpectrum, Exploring the Etiology.  Presented at the 2005 American College of Medical Genetics Meeting.

Tegay DH, Weiss-Burns J, Galvin-Parton P.  Familial Sotos Syndrome with Unusual Clinical Manifestations.  Presented at the 2004 American Society of Human Genetics Meeting.

Tegay DH, Weiss-Burns J, Galvin-Parton P.  Mowat-Wilson Disease with Unusual Clinical Manifestations. Presented at the 2004 American College of Medical Genetics Meeting.

Tegay DH, Cohen H, Rosovsky M.  Holoprosencephaly.  Emedicine Journal [serial online].  2004, 2006. Available at:  http://www.emedicine.com

Tegay DH, Fallet S.  Krabbe Disease.  Emedicine Journal [serial online].  2001, 2006.  Available at:  http://www.emedicine.com

Tegay DH, Fallet S.  GM1-Gangliosidosis.  Emedicine Journal [serial online].  2001, 2006.  Available at:  http://www.emedicine.com

Tegay DH, Sloan HR.  Glycogen Storage Disease Type III.  Emedicine Journal [serial online].  2006.  Available at:  http://www.emedicine.com

Tegay DH, Krishnan V.  CHARGE Syndrome.  Emedicine Journal [serial online].  2006. Available at:  http://www.emedicine.com

Tegay DH.  Tetrahydrobiopterin Deficiency.  NORD [Online Database].  2003.  Available at:  http://www.rarediseases.org