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Biosketch / Results /

John G. Pappas, M.D.

Assistant Professor;
Department of Pediatrics (Human Genetics Division) [1]
NYU Pediatric Genetics Associates

Clinical Addresses

145 EAST 32ND STREET
14TH FLOOR
NEW YORK, NY 10016
Hours: Mon. 9 - 11; Tue. 9 - 11; Fri. 9 - 12
Handicap Access: yes
Phone: 646-754-2222


Additional Clinical Addresses [2]
[3]

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Medical Specialties

Genetics

Medical Expertise

Growth Disorders, Human Genetics, Genetics & Hereditary Disease, Kabuki Syndrome, Multiple Pterygium Syndrome

Clinical Responsibilities

Clinical genetic services at New York University Hospitals offer the diagnosis and management of genetic diseases. Two physicians and six genetic counselors cover all the areas of medical genetics. We see patients with pregnancy related genetic issues, pediatric genetic syndromes, adult genetic diseases, genetic predisposition to cancer and carrier testing for genetic diseases.

Since my training years, my interest has been the unusual or partial presentations of genetic syndromes. I acknowledge the power of a gene mutation to change many biological functions and induce devastating disease. However, I think that the complexity of the human goes a long way in modifying the consequences of a genetic alteration to the point that a genetic disease differs from individual to individual. I am interested in these differences because they frequently show us the path to treatment.

Languages

Greek

Insurance

AETNA HMO, AETNA INDEMNITY, AETNA MEDICARE, AETNA POS, AETNA PPO, Beech St PPO, Cigna HMO/POS, Cigna PPO, EBCBS EPO, EBCBS HLTHY NY, EBCBS HMO, EBCBS INDEMNITY, EBCBS MEDIBLUE, EBCBS POS, EBCBS PPO, GHI CBP, HIP ACCESS I, HIP ACCESS II, HIP CHLD HLTH, HIP EPO/PPO, HIP FAM HLTH, HIP HMO, HIP MEDICAID, HIP MEDICARE, HIP POS, LOCAL 1199 PPO, MAGNACARE PPO, MULTIPLAN/PHCS PPO, NYS EMPIRE PLAN, OXFORD FREEDOM, Oxford Liberty, Oxford Medicare, UHC EPO, UHC HMO, UHC MEDICARE, UHC POS, UHC PPO, UHC TOP TIER, UPN Elite

Insurance Disclaimer: Insurance listed above may not be accepted at all office locations. Please confirm prior to each visit. The information presented here may not be complete or may have changed.

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Board Certification

1996 — Ab Medical Genetics - Clinical Genetics
2000 — Ab Pediatrics - Pediatrics

Education

1985 — University of Athens, Medical Education
1987-1991 — Beth Israel Medical Center (Pediatrics), Residency Training
1993-1995 — Beth Israel Medical Center (Clinical Genetics), Clinical Fellowships

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All data from NYU Health Sciences Library Faculty Bibliography — -

Contact:
http://hsl.med.nyu.edu/faculty-bibliography-search [8]

Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype
Burnside, Rachel D.; Pappas, John G.; Sacharow, Stephanie; Applegate, Carolyn; Hamosh, Ada; Gadi, Inder K.; Jaswaney, Vikram; Keitges, Elisabeth; Phillips, Karen K.; Potluri, Venketaswara R.; Risheg, Hiba; Smith, Janice L.; Tepperberg, Jim H.; Schwartz, Stuart; Papenhausen, Peter
2013 APR;161A(4):822-828, American journal of medical genetics. Pt A
— id: 335142, year: 2013, vol: 161A, page: 822, stat: Journal Article,

Complex Chromosome Rearrangement of 6p25.3->p23 and 12q24.32->qter in a Child With Moyamoya
Rosenberg, Rebecca E; Egan, Maureen; Rodgers, Shaun; Harter, David; Burnside, Rachel D; Milla, Sarah; Pappas, John
2013 Jun;131(6):e1996-e2001, Pediatrics
— id: 366892, year: 2013, vol: 131, page: e1996, stat: Journal Article,

Well-differentiated Pancreatic Neuroendocrine Carcinoma in Tuberous Sclerosis-Case Report and Review of the Literature
Arva, Nicoleta C; Pappas, John G; Bhatla, Teena; Raetz, Elizabeth A; Macari, Michael; Ginsburg, Howard B; Hajdu, Cristina H
2012 Jan;36(1):149-153, American journal of surgical pathology
— id: 147697, year: 2012, vol: 36, page: 149, stat: Journal Article,

UPD detection using homozygosity profiling with a SNP genotyping microarray
Papenhausen, Peter; Schwartz, Stuart; Risheg, Hiba; Keitges, Elisabeth; Gadi, Inder; Burnside, Rachel D; Jaswaney, Vikram; Pappas, John; Pasion, Romela; Friedman, Kenneth; Tepperberg, James
2011 Apr;155A(4):757-768, American journal of medical genetics. Pt A
— id: 135202, year: 2011, vol: 155A, page: 757, stat: Journal Article,

Early presentation of bilateral gonadoblastoma in Denys-Drash syndrome: A cautionary tale for prophylactic gonadectomy
Patel, P R; Pappas, J; Franklin, B H; Arva, N; Brar, P C
2011 June 2011;32(3):-, Endocrine reviews
— id: 159286, year: 2011, vol: 32, page: , stat: Journal Article,

Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome
Sugumaran, Hema K.; Pappas, John G.; Kodsi, Sylvia R.
2011 DEC ;15(6):593-594, Journal of AAPOS: American Association for Pediatric Ophthalmology & Strabismus
— id: 149886, year: 2011, vol: 15, page: 593, stat: Journal Article,

Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type
Palmquist, Maria; Pappas, John G; Petrikovsky, Boris; Blakemore, Karin; Roshan, Daniel
2009 Oct;22(10):924-927, Journal of maternal-fetal & neonatal medicine
— id: 145548, year: 2009, vol: 22, page: 924, stat: Journal Article,

Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia
Shah, Bina C; Moran, Ellen S; Zinn, Andrew R; Pappas, John G
2009 Dec;94(12):5028-5033, Journal of clinical endocrinology & metabolism
— id: 105647, year: 2009, vol: 94, page: 5028, stat: Journal Article,

Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization
Timor-Tritsch, Ilan E; Kapp, Sarah; Berg, Robert; Bejjani, Bassem A; Adams, Sara Anne; Monteagudo, Ana; Divon, Michael; Pappas, John G
2009 Dec;28(12):1735-1742, Journal of ultrasound in medicine
— id: 105513, year: 2009, vol: 28, page: 1735, stat: Journal Article,

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
Bicknell, Louise S; Farrington-Rock, Claire; Shafeghati, Yousef; Rump, Patrick; Alanay, Yasemin; Alembik, Yves; Al-Madani, Navid; Firth, Helen; Karimi-Nejad, Mohammad Hassan; Kim, Chong Ae; Leask, Kathryn; Maisenbacher, Melissa; Moran, Ellen; Pappas, John G; Prontera, Paolo; de Ravel, Thomy; Fryns, Jean-Pierre; Sweeney, Elizabeth; Fryer, Alan; Unger, Sheila; Wilson, L C; Lachman, Ralph S; Rimoin, David L; Cohn, Daniel H; Krakow, Deborah; Robertson, Stephen P
2007 Feb;44(2):89-98, Journal of medical genetics
— id: 96974, year: 2007, vol: 44, page: 89, stat: Journal Article,

Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation
Fiske, Joshua; Patel, Rupa; Kau, Eric; Pappas, John G; Garcia, Roberto A; Taneja, Samir S
2005 Dec;66(6):1320-1320, Urology
— id: 61863, year: 2005, vol: 66, page: 1320, stat: Journal Article,

Langer mesomelic dysplasia in a patient with 45, X/46, X, idic(X)
Moran, E; Hovanes, K; Perle, M; Kaffe, S; Pappas, J
2004 JUL-AUG ;6(4):304-304, Genetics in medicine
— id: 48693, year: 2004, vol: 6, page: 304, stat: Journal Article,

A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome
Vuoristo, Mirka Marjanna; Pappas, John Georgios; Jansen, Valerie; Ala-Kokko, Leena
2004 Oct 1;130(2):160-164, American journal of medical genetics. Pt A
— id: 48980, year: 2004, vol: 130, page: 160, stat: Journal Article,

Missense mutation in the PANK2 gene in a patient with atypical Pantothenate kinase associated neurodegeneration
Pappas, J; Borsuk, J; Das, S; Bennett, H
2003 NOV ;73(5):276-276, American journal of human genetics
— id: 55448, year: 2003, vol: 73, page: 276, stat: Journal Article,

Phenotypic and molecular