IGM Research Papers:

Chatkupt, S., Speer, M.C., Ding, Y., Thomas, M., Stenroos, E.S., Dermody, J.J., Koenigsberger, M.R., Ott, J. and Johnson, W.G. (1994) Linkage Analysis of a Candidate Locus (HLA) in Autosomal Dominant Sacral Defect With Anterior Meningocele. American Journal of Medical Genetics 52:1-4

Leal, S.M., Apaydin, F., Barnwell, C., Iber, M., Kandogan, T., Cura., O., Braendle, O., Zenner, H.P., Schwalb, M., Vitale, E. (1998) Linkage studies of non syndromic recessive deafness in a Turkish kindred which segregates DFNB9. European Journal of Human Genetics 6 :341-344

Mack, R., Chowdary, D. and Dermody, J.J. (1999) Inherited thrombophilia genes in minorities. Genetic Testing. 3:371-373

Dorschner MO, Sybert VP, Weaver M, Pletcher BA and Stephens K:“NF1 microdeletion breakpoints are clustered at flanking repetitive sequences”, Human Molecular Genetics 9:35-46, 2000.

Vitale, E., Brancolini, V.,De Rienzo, A., Bird, L., Zurawski, M., Weber, J.L Devoto, M., Casey, B.: Mapping of a locus for asymptomatic situs inversus and other left-right abnormalities to chromosome 6p. Journal of Medical Genetics 38 :182-185 2001

Mack, R., Chowdary, D., Samaan, P., Podolak, I. and Dermody, J. (2001) Prevalence of CTLA- 4 polymorphism A49G in Ashkenazi Jews. Genetic Testing 5:269-271

Vitale E., Specchia C., Devoto M. ,Angius A., Sun R., Schwalb M., Demelas L, Mastropaolo C. Serra G. (2001): A previously unreported syndrome of X-linked mental retardation with short stature maps to Xq24. American Journal of Medical Genetics 103 :1-8

Mirghomizadeh F., Bardtke B., Devoto M., Pfister M., Oeken J., König S., Vitale E., Riccio A., de Rienzo A., Zenner H.P., Blin N. (2002): Second family with hearing impairment linked to 19q13 and refined DFNA4 localization. European Journal of Human Genetics 10 :95-99

Ulger, C., Toruner, GA, Alkan, M., Mohammed, M., Damani, S., Glanete, A., Soteropoulos, P., Tolias, P., Schwalb, M. and Dermody, J., (2002) Genome-wide Comparison of DNA Copy Number and RNA Transcript Levels in the HL-60 Cell Line. Cancer Genetics and Cytogenetics 147: 28-35

Vitale E., Cook S., Sun Specchia C., Subramanian K., Rocchi M., Nathanson D., Schwalb M., Devoto M., and Rohowsky-Kochlan C. (2002): Linkage analysis conditional on HLA status in a large North American pedigree supports the presence of a multiple sclerosis susceptibility locus on chromosome 12p12. Human Molecular Genetics 3 :295-300

Chowdary, D., Streck,D., Schwalb, M. and Dermody, J. (2003) High frequency of two MTHFR mutations (C677T and A1298G) in Hispanics. Genetic Testing 7: 255-257

Yildirim-Toruner C, Subramanian K, El Manjra L, Chen E, Goldstein S, Vitale E. A novel frameshift mutation of FOXC2 gene in a family with hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus. Am J Med Genet. 2004 15;131A(3):281-6

Kelly, K., Leventhal, H., Marvin, M. Toppmeyer, D., Baran, J., and Schwalb, M. Cancer Genetics Knowledge and Beliefs and Receipt of Results in Ashkenazi Jewish Individuals Receiving Counseling for BRCA1/2 mutations. Cancer Control Journal 11:236-44.

Kelly, K.Leventhal, H. Andrykowski, M., Toppmeyer, D. Much, J. Dermody, J., Marvin, M. Baran, J., Schwalb, M. (2004). The decision to test women receiving genetic counseling for BRCA1 and BRCA2 mutations. J. Genet. Couns. 13:237-57.

Kelly, K.Leventhal, H.., Marvin, M. Toppmeyer, D. Much, J. Dermody, J., Baran, J., Schwalb, M. (2004). Subjective and objective risk of breast cancer in Ashkenazi Jewish individuals at risk for BRCA1/2 mutations. Genet. Test. 8:139-47.

Price, R., Tulyan, N. Dermody, J., Schwalb, M., Soteropolis, P. and Castronuovo, J. (2004) Gene expression after crush injury of human saphenous vein: using microarrays to define the translational profile. Journal of American College of Surgeons, 11:236-44

Toruner, G. Ulger, C, Alkan, M., Galante, A. Rinaggio, J., Wilk, R. Tian, B. Soteropolis, P., Hameed, M., Schwalb, M., and Dermody, J. (2004). Association between gene expression profile and tumor invasion in oral squamous cell carcinoma. Cancer Genetic and Cytogenetics, 154:27-35

Astbury C, Christ L, Aughton D, Cassidy S, Fujimoto A, Pletcher BA , Schafer I and Schwartz S: “Delineation of complex chromosomal rearrangements: Evidence for increased complexity”, Human Genetics 114(5):448-457, 2004.

Kelly, K.Leventhal, H. Andrykowski, M., Toppmeyer, D. Much, J. Dermody, J., Marvin, M. Baran, J., Schwalb, M. (2005). Using the common sense model to understand perceived cancer risk in individuals testing for BRCA1/2 mutations. Psychooncology14:34-38

Hamarman S, Fossella J, Ulger C, Brimacombe M and Dermody J (2005) Dopamine receptor4 (DRD4) 7-allele repeat predicts methylphenidate dose response in children with attention deficit hyperactivity disorder: a pharmacogenetic study J of Child and Adolescent Psychopharmacology 14: 564-574

Vitale, E., Yildirim-Toruner C, Mahon G., Husain S., Toruner G, Schwalb M., Cook S.: A familial form of multiple sclerosis showing impaired ganglioside synthesis . Neurology (Supplement 2). 2006 66 (5):A94

Vitale, E., Yildirim-Toruner C, Mahon G., Husain S., Toruner G, Schwalb M., Cook S.: Impaired Ganglioside synthesis involved with pathogenic mechanism in a familial form of multiple sclerosis . European J of Human Genet (Supplement 1). 2006 14:C20

Malfitano A., Toruner G, Laezza C., Husain S., Gazzero P., Bifulco M., Vitale E.: Microarray analysis identifies up-regulation of CD36 in human PBMC treated with endocannabinoids. European J of Human Genet (Supplement 1). 2006 14:P0517

Malfitano A: M., Toruner G. A., Gazzerro P., Laezza C., Husain S., Eletto D., Orlando P., De Petrocellis L., Terskiy A., Schwalb M., Vitale E., Bifulco M.. Arvanil and anandamide up-regulate CD36 expression in human peripheral blood mononuclear cells . Immunol Lets 2007 Apr 15;109(2):145-154. Epub 2007 Mar 5.

Gianfrancesco F, Cannella M., Martino T., Maglione V., Esposito T., Vitale E., Liquori C.L.,  Marchuk D. A., Squitieri F.: Highly variable penetrance in subjects affected with Cavernous Cerebral Angiomas (CCM) carrying novel CCM1 and CCM2 mutations. American J of Med Genetics B Neuropsychiatr Genet. 2007 Apr17

Toruner, G.A., D.L. Streck, M.N. Schwalb, and J.J. Dermody (2007) An Oligonucleotide Based Array-CGH System for Detection of Genome Wide Copy Number Changes Including Subtelomeric Regions for Genetic Evaluation of Mental Retardation. Amer. J. Medical Genetics 143A:824-929

Feinman R, Deitch E, Aris V, Chu H, Abungu B, Caputo F, Galante A, Xu D, Colorado I, Streck D, Dermody J and Soteropoulos P (2007) Molecular signatures of trauma hemorrhagic shock-induced Injury: hemorrhage and injury-associated genes. Shock, accepted for publication

Lin X, Flint J, Azaro M, Coradetti , Kopacka W, Streck D, Wang Z, Dermody J and Mandecki W (2007) Microtransponder-based multiplex assay for genotyping cystic fibrosis. Clinical Chemistry, accepted for publication

Husain S, Yildirim – Toruner C., Mahon G. , Toruner G., Schwalb M., Cook S., Vitale E. A molecular defect causing impaired ganglioside synthesis in a single Pennsylvania Dutch family affected by multiple sclerosis. Submitted to Human and Molecular Genetics

IGM Clinical Papers

Petrikovsky B, Kenigsberg K and Pletcher B : "Meconium peritonitis mimicking urinary ascites", The Fetus 3(6):9-12, 1993.

Rubin SE, Nelson LB and Pletcher BA : "Anterior polar cataract in two sisters with an unbalanced 3;18 chromosomal translocation", American Journal of Ophthalmology 117:512-515, 1994.

Pletcher BA , Sanz MM, Schlessel JS, Kunaporn S, McKenna C, Bialer MG, Alonso ML, Zaslav A-L, Brown WT and Ray JH: "Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal liveborns", Prenatal Diagnosis 14:933-940, 1994.

Knoll JHM, Asamoah A, Pletcher BA and Wagstaff J: "Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome", American Journal of Medical Genetics 55:221-224,1995.

Pletcher BA , Fox JE, Boxer RA, Singh S, Blumenthal D, Cohen T, Brunson S, Tafreshi P and Kahn E: "Four sibs with arterial tortuosity: Description and review of the literature", American Journal of Medical Genetics 66:121-128, 1996.

Rosenblatt DS, Aspler AL, Shevell MI, Pletcher BA, Fenton WA and Seashore MR: "Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)", Journal of Inherited Metabolic Disease 20:528-538, 1997.

Blacksin MF, Pletcher BA and David M: “Osteogenesis imperfecta with joint contractures: Bruck syndrome”, Pediatric Radiology 28:117-119, 1998 

Goodman BK, Shaffer LG, Rutberg J, Leppert M, Harum K, Gagos S, Ray JH, Bailer MG, Zhon X, Pletcher BA , Shapira SK and Geraghty MT : “Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in 3 unrelated families”, American Journal of Medical Genetics 80:377-389, 1998 

Williams MS, Williams JL, Wargowski DS, Pauli RM and Pletcher BA : “Filippi syndrome: Report of three additional cases”, American Journal of Medical Genetics 87:128-133, 1999. 

Pletcher BA, Jewett EAB, Cull WL, Brotherton SE, Hoyme HE, Pan RJD and Mulvey HJ: “The practice of clinical genetics: A survey of practitioners”, Genet Med 4(3): 142-149, 2002.

Wallerstein R, Twersky S, Layman P, Kernaghan L, Aviv H, Pedro HF and Pletcher B : “Long term follow-up of developmental delay in a child with prenatally-diagnosed trisomy 20 mosaicism”, American Journal of Medical Genetics 137A : 94-97, 2005.

Sherman S, Pletcher BA and Driscoll DA: “ACMG Practice Guideline - Fragile X syndrome: Diagnostic and carrier testing”, Genet Med 7(8): 584-587, 2005.

Umeukeje J, Pletcher BA, Blacksin M, Sharer LR, Wenger P and Singer-Granick C: “Muscle infarction in a 13 year old female with type 1 diabetes of short duration”, Journal of Pediatric Endocrinology and Metabolism 19(8):1039-1043, 2006.

Pletcher BA and Bocian M: “ACMG Practice Guideline - Preconception and prenatal testing of biologic fathers for carrier status”, Genet Med 8(2): 134-135, 2006. 

Jyonouchi H, Lien KW, Aguila H, Spinnato GG, Sabharwal S and Pletcher BA: “SAPHO osteomyelitis and sarcoid dermatitis in a patient with DiGeorge syndrome”, European Journal of Pediatrics 165:370-373, 2006. 

Suslak L, Dhamcharee V, Desposito F : Uniparental isodisomy in an autosomal recessive disorder. Journal of Genetic Counseling 2:327, 1993 

Sills IN, Rapaport R, Robinson LP, Lieber C, Shih LY, Horlick M, Schwartz M, Desposito F : Familial Pallister -Hall syndrome: Case report and hormonal evaluation. American Journal of Medical Genetics 47:321-325, 1993

Rice C, Zahorodny W, Desposito, F et al. Prevalence of the Autism Spectrum Disorders (ASD) in six regions of the United States from a Public Health Collaboration. Accepted for publication in MMWR (Center for Disease Control publication). Feb 6, 2006.  

Lacz NL, Schwartz RA, Desposito F : Lymphohistiocytosis. E-medicine Journal 4(9), September 6, 2003 Tinkel-Vernon H, Finkernagel S, Desposito F , et al: Patient with a deletion of chromosome 21q and minimal phenotype. American Journal of Medical Genetics 120:142-143, 2003

Section on Hematology/Oncology; Committee on Genetics: American Academy of Pediatrics. Lane PA, Buchanan GR, Desposito F , et al, Writing Committee. Health Supervision for Children with Sickle Cell Disease. Pediatrics 109:526-535, 2002

Desposito F , Lloyd-Puryear MA, Tonniges TF, et al: Survey of pediatrician practices in retrieving statewide authorized newborn screening results. Pediatrics 107:442-449, 2001

Committee on Genetics: American Academy of Pediatrics. Desposito F , contributing author. Molecular genetic testing in pediatric practice: A subject review. Pediatrics 106:1492-1497, 2000

Desposito F , Cunniff C, Frias J, et al: Folic acid for the prevention of neural tube defects. Pediatrics 104:325-327, 1999

Yenamandra A, DeAngelo P, Aviv H, Suslak L, Desposito F : Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child. American Journal of Medical Genetics 72:125-129, 1997

Wallerstein R, Wallerstein DF, Trauffer P, Desposito F : Congenital diaphragmatic hernia and ipsilateral limb reduction defect: A new case, long term follow-up and review of the literature. Clinical Dysmorphology 6:257-261, 1997

Toriello HV, Carey JC, Suslak L, Desposito F , Hoyme HE: Six patients with oral-facial-digital syndrome IV: The case for heterogeneity. American Journal of Medical Genetics 69:250-260, 1997

Aviv H, Lieber C, Yenamandra A, Desposito F : Familial transmission of a deletion of chromosome 21 derived from a translocation between chromosome 21 and an inverted chromosome 22. American Journal of Medical Genetics 70:399-403, 1997

Desposito F , Cho S, Frias JL, et al: Health supervision for children with Marfan syndrome. Pediatrics 98:978-983, 1996

Desposito F , Cho S, Frias JL, et al: Newborn screening fact sheets. Pediatrics 98:473-501, 1996

Desposito F , Cho S, Frias JL, et al: Health supervision for children with sickle cell diseases and their families. Pediatrics 98:467-472, 1996

Desposito F , Cho S, Frias JL, et al: Health supervision for children with fragile-X syndrome. Pediatrics 98:297-300, 1996

Seashore MR, Cho S, Desposito F , et al: Health supervision for children with Turner syndrome. Pediatrics 96:1166-1173, 1995

Seashore MR, Cho S, Desposito F , et al: Health supervision for children with neurofibromatosis. Pediatrics 96:368-372, 1995

Seashore MR, Cho S, Desposito F , et al: Health supervision for children with achondroplasia. Pediatrics 95:443-451, 1995

Sills IN, Rapaport R, Desposito F : Letter to the Editor: Familial Pallister-Hall syndrome. The Journal of Pediatrics 125:170, 1994

Sills IN, Rapaport R, Desposito F : Familial Pallister-Hall syndrome: Three affected siblings. American Journal of Medical Genetics 52:251, 1994

Seashore MR, Cho S, Desposito F , et al: Committee on Genetics: Prenatal genetic diagnosis for pediatricians. Pediatrics 93:1010-1015, 1994

Seashore MR, Cho S, Desposito F , et al: Committee on Genetics: Health supervision for children with Down syndrome. Pediatrics 93:855-859, 1994

Holmes LB (Chair), Burton B, Desposito F , et al: Report of Na­tional Institute of Child Health and Human Development Workshop on Chorionic Villus Sampling and Limb and Other Defects. Teratol­ogy 48:7-13, 1993

Seashore MR, Cho S, Desposito F , et al: Folic acid for the prevention of neural tube defects. Pediatrics 92:493-494, 1993

Newborn screening for congenital hypothyroidism: Recommended guidelines. American Academy of Pediatrics, Section on En­docrinology and Committee on Genetics. Pediatrics 91:1203-1209, 1993

Wallerstein R, Desposito F , Aviv H, Schenk M, Wallerstein DF: Partial trisomy 11q in a female infant with Robin Sequence and congenital heart disease. Cleft Palate-Craniofacial Journal 29:77-79, 1992

Schmerler S, Kushnick T, Desposito F : Long-term evaluation of a child with the Branchio-Oculo-Facial syndrome. American Journal of Medical Genetics , 44:177-178, 1992 dysplasia and cleft palate (EEC) syndrome: Report of a case with generalized telangiec­tasia. Journal of the American Academy of Dermatology 29:347-350, 1993

Desposito F : Newborn Screening, in Twenty Common Problems in Preventive Care. Campos-Outcal D (editor), McGraw-Hill, New York, 2000, Chapter 7

Desposito F : Prenatal Screening for Cystic Fibrosis, in New Technologies in Reproductive Medicine, Neonatology and Gynecology. Cosmi EV (ed), Mondazzi Editore, Bologna , Italy , 1999, pp 43-51

Desposito F : Health Supervision for Children with Heritable and Congenital Disorders, in Genetic Services : Developing Guidelines for the Public's Health. Freeman SB, Hinton CF, Elsas LJ, II (editors), Council of Regional Networks for Genetic Services (CORN), Emory University, Atlanta, Georgia, 1996, pp 97-106

Desposito F , Reid C: Clinical Genetic Services and Their Relevance to Public Health, in Genetic Services : Developing Guidelines for the Public's Health. Freeman SB, Hinton CF, Elsas LJ, II (editors), Council of Regional Networks for Genetic Services, Emory University, Atlanta, Georgia, 1996, pp 64-69

Rodriguez G, Scherer A, Dorjo I, Desposito F : Catalog of multi­lingual patient education materials on genetic and related maternal/child health topics. ­University of Medicine & Dentistry/New Jersey Medical School , Newark , NJ , 1993, pp 1-207. Second edition 1995, pp 1-245

Desposito F (consulting advisor): Identification and Initial Management of HIV Infected Infants and Children in New Jersey : A Practical Protocol for New Jersey Clinicians. Oleske JM (ed) Academy of Medicine of New Jersey and the New Jersey Department of Health, Trenton, New Jersey, June 1992

Rodriguez G, Dorjo I, Scherer A, Desposito F : Genetic Counseling Glossary: Spanish Translation of English Term. NJ Medical School, 1990, pp 1-10. Second edition 1994, pp 1-46

Ben-Joseph Y, Mitchell DA, Yager RM, Wei JT, Chen TH and Shih LY :   Mucolipidoses II and III variants with normal N-acetylglucosamine 1-phosphotransferase activity toward methylmannosidase are due to nonallelic mutations.  Am J Human Genet 50:137-144, 1992.

Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih LY , Aviv H, Schinzel AA:   Uniparental disomy explains the occurrence of the Angelman or Prader-Willi Syndrome in patients with an additional small inv dup (15) chromosome.  J Med Genet 30:756-760, 1993. 

Sills IN, Rapaport R, Robinson LP, Lieber C, Shih LY , Horlick MNB, Schwartz M, Desposito F:   Familial Pallister-Hall Syndrome:  Case report and hormonal evaluation.  Am J Human Genet 47:321-325, 1993.

Wallerstein R, Seshadri K, Brady-Yasbin S, Shih LY , Wallerstein DF:   A retrospective survey of community-based utilization of Tay-Sachs screening in eight New Jersey counties.  J Genet Counseling 3:125-131, 1994.

Chatkupt S, Wolansky LJ, Jotkowitz A, Shih LY , Cook SD:   Spinocerebellar degeneration and cerebral hypomyelination in a family.  Am J Med Genet 60:188-191, 1995.

Sarina G. Kant, Alexander Polinkovsky, Stefan Mundlos, Bernhard Zabel, Ralph T. W. M. Thomeer, Harmien M. Zonderland, Ling-yu Shih , Arie van Haeringen, and  Matthew L. Warman:   Accromesomelic dysplasia maroteaux type maps to human chromosome 9.  Am J Human Genet 63:155-162,1998.

Kolosha V, Anoia E, de Cespedes C, Gitzelmann R, Shih L , Casco T, Saborio M, Trejos R, Buist N, Tedesco T, Skach W, Mitelmann O, Ledee D, Huang K, Stambolian D: Novel mutations in 13 probands with galactokinase deficiency.  Hum Mutat 15:447-53, 2000

Samady JA, Schwartz RA, Shih LY , Lambert WC, Zofia Piella, Janniger CK: Acrodermatitis enteropathica-like eruption in an infant with nonketotic hyperglycinemia.  Journal of Dermatology 27:29-33, 2000

Cynthia F. Bartels, Hulya Bukulmez, Pius Padayatti, David K. Rhee, Conny van Ravenswaaij-Arts, Richard M. Pauli, Stefan Mundlos, David Chitayat, Ling-Yu Shih , Lihadh I. Al-Gazali, Sarina Kant, Trevor Cole, Jenny Morton, Valerie Cormier-Daire, Laurence Faivre, Melissa Lees, Jeremy Kirk, Geert R. Mortier, Jules Leroy, Bernhard Zabel, Chong Ae Kim, Yanick Crow, Nancy E. Braverman, Focco van den Akker, and Matthew L. Warman:    Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux.  Am. J Hum. Genet. 75:27-34, 2004

Wallerstein, Robert; Shih, Ling-Yu ; Fong, Mei-Heung; Zheng, Sharon; Poon, Eric: A New Case of Okamoto syndrome.  Clinical Dysmorphology 14: 85-87, 2005

Barry Wolf, Kevin P. Jensen, Bruce Barshop, Miriam Blitzer, Martha Carlson, David R. Goudie, Gulden Huner Gokcay, Mubeccel Demirkol, Tolunay Baykal, F. Demir, Sharon Quary, Ling-Yu Shih , Helio F. Pedro, Tsui-hua Chen, Alfred E. Slonim: Biotindase deficiency: Novel mutations and their biochemical and clinical correlates.  Human Mutation 25 413-413, 2005