John G. Pappas

Biosketch / Results /

John G. Pappas, M.D., M.S.

Assistant Professor;
Department of Pediatrics (Human Genetics Division)
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

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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/EPO, AFFINITY EXCHANGE- ESSENTIAL, CIGNA EPO/POS, Cigna PPO, EBCBS EPO, EBCBS HLTHY NY, EBCBS HMO, EBCBS INDEMNITY, EBCBS MEDIBLUE, EBCBS POS, EBCBS PPO, ELDERPLAN, FIDELIS EXCHANGE, GHI CBP, HEALTHREPUBLIC, 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, OSCAR, OXFORD EXCHANGE, OXFORD FREEDOM, Oxford Liberty, Oxford Medicare, UHC EPO, UHC HMO, UHC MEDICARE, UHC POS, UHC PPO, UHC TOP TIER, UNITED EXCHANGE- COMPASS, 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

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
Kaiser, Frank J; Ansari, Morad; Braunholz, Diana; Concepcion Gil-Rodriguez, Maria; Decroos, Christophe; Wilde, Jonathan J; Fincher, Christopher T; Kaur, Maninder; Bando, Masashige; Amor, David J; Atwal, Paldeep S; Bahlo, Melanie; Bowman, Christine M; Bradley, Jacquelyn J; Brunner, Han G; Clark, Dinah; Del Campo, Miguel; Di Donato, Nataliya; Diakumis, Peter; Dubbs, Holly; Dyment, David A; Eckhold, Juliane; Ernst, Sarah; Ferreira, Jose C; Francey, Lauren J; Gehlken, Ulrike; Guillen-Navarro, Encarna; Gyftodimou, Yolanda; Hall, Bryan D; Hennekam, Raoul; Hudgins, Louanne; Hullings, Melanie; Hunter, Jennifer M; Yntema, Helger; Innes, A Micheil; Kline, Antonie D; Krumina, Zita; Lee, Hane; Leppig, Kathleen; Lynch, Sally Ann; Mallozzi, Mark B; Mannini, Linda; McKee, Shane; Mehta, Sarju G; Micule, Ieva; Mohammed, Shehla; Moran, Ellen; Mortier, Geert R; Moser, Joe-Ann S; Noon, Sarah E; Nozaki, Naohito; Nunes, Luis; Pappas, John G; Penney, Lynette S; Perez-Aytes, Antonio; Petersen, Michael B; Puisac, Beatriz; Revencu, Nicole; Roeder, Elizabeth; Saitta, Sulagna; Scheuerle, Angela E; Schindeler, Karen L; Siu, Victoria M; Stark, Zornitza; Strom, Samuel P; Thiese, Heidi; Vater, Inga; Willems, Patrick; Williamson, Kathleen; Wilson, Louise C; Hakonarson, Hakon; Quintero-Rivera, Fabiola; Wierzba, Jolanta; Musio, Antonio; Gillessen-Kaesbach, Gabriele; Ramos, Feliciano J; Jackson, Laird G; Shirahige, Katsuhiko; Pie, Juan; Christianson, David W; Krantz, Ian D; Fitzpatrick, David R; Deardorff, Matthew A
2014 Jun;23(11):2888-2900, Human molecular genetics
— id: 1059502, year: 2014, vol: 23, page: 2888, stat: Journal Article,

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,

Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy
Patel, Payal R; Pappas, John; Arva, Nicoleta C; Franklin, Bonita; Brar, Preneet Cheema
2013 ;26(9-10):971-974, Journal of pediatric endocrinology & metabolism
— id: 669172, year: 2013, vol: 26, page: 971, 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: 833072, 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 cytogenetic characterization of a girl with mosaicism for terminal deletions of Chromosome 5p
Allan KM; Perle M; Pappas JG
2002 ;71(4 Suppl):293-294 Oct abstract #707, American journal of human genetics
— id: 48983, year: 2002, vol: 71, page: 293, stat: Journal Article,

A Puerto Rican boy with dislocated hips and radial heads and carpal coalition: a new case of syndrome described only in Puerto Rican children
Moran ES; Vepa S; Pappas JG
2002 ;71(4 Suppl):274-274 Oct abstract #599, American journal of human genetics
— id: 48982, year: 2002, vol: 71, page: 274, stat: Journal Article,

Deletion 3p25 in a mother and child
Pappas JG; Duncan C; Genovese M; Gu H; Jenkins EC
2002 ;71(4 Suppl):301-301 Oct absrract #755, American journal of human genetics
— id: 48984, year: 2002, vol: 71, page: 301, stat: Journal Article,

Phenotypic and molecular cytogenetic characterization of a child with a terminal deletion of 7q [Del(7) (Q36.2)]
Pappas JG; Reich E; Allan K; McMorrow ELE; Perle M; Wyandt HE; Milunski JM
2002 ;71(4 Suppl):298-298 Oct abstract #739, American journal of human genetics
— id: 48985, year: 2002, vol: 71, page: 298, stat: Journal Article,

Huntington's disease with childhood onset of mental retardation and possible late onset disease in the father
Pappas JG; Punales-Morejon D; Penchaszadeh VB
2000 ;67(4 Suppl):113-113 Dec abstract #566, American journal of human genetics
— id: 48992, year: 2000, vol: 67, page: 113, stat: Journal Article,

Possible mother-daughter transmission of Wildrervank syndrome
Pappas JG; Rimar E; Penchaszadeh VB
1999 ;65(4 Suppl):A337-A337 Oct abstract #1901, American journal of human genetics
— id: 48991, year: 1999, vol: 65, page: A337, stat: Journal Article,

De novo terminal deletion of 11q [del(11)(q24.2)]
Pappas JG; Sadiq A; Bhatt J; Babu A; Penchaszadeh VB
1998 ;63(4 Suppl):A146-A146 Oct abstract #826, American journal of human genetics
— id: 48990, year: 1998, vol: 63, page: A146, stat: Journal Article,

DAX1 mutations map to putative structural domains in a deduced three-dimensional model
Zhang YH; Guo W; Wagner RL; Huang BL; McCabe L; Vilain E; Burris TP; Anyane-Yeboa K; Burghes AH; Chitayat D; Chudley AE; Genel M; Gertner JM; Klingensmith GJ; Levine SN; Nakamoto J; New MI; Pagon RA; Pappas JG; Quigley CA; Rosenthal IM; Baxter JD; Fletterick RJ; McCabe ER
1998 Apr;62(4):855-864, American journal of human genetics
— id: 48981, year: 1998, vol: 62, page: 855, stat: Journal Article,

De novo duplication of distal 10q[dup(10)(q25.3q26.2]
Pappas JG; Hina SL; Bogosian V; Bhatt J; Babu A; Penchaszadeh VB
1997 ;61(4 Suppl):A137-A137 Oct abstract #777, American journal of human genetics
— id: 48989, year: 1997, vol: 61, page: A137, stat: Journal Article,

Mutations in DAX1 identified by sequencing of genomic DNA from patients with Adrenal Hypoplasia Congenita (AHC)
Zhang Y-H; Huang BL; Guo W; Vilain E; McCabe L; Buris TP; Anyane-Yeboa K; Burghes A; Chitayat D; Chudley AE; Gerner JM; Klingensmith G; Nakamoto J; New M; Pappas JG; Quigley CA; Rosenthal JM; Salisbury S; McCabe ERB
1996 ;59(4 Suppl):A296-A296 Oct abstract #1719, American journal of human genetics
— id: 48988, year: 1996, vol: 59, page: A296, stat: Journal Article,

Trisomy 2 mosaicism
Pappas JG; Havens G; Bogosian V; Batt J; Paka K; Babu A; Penchaszadeh VB
1995 ;57(4 Suppl):A286-A286 Oct abstract #1666, American journal of human genetics
— id: 48986, year: 1995, vol: 57, page: A286, stat: Journal Article,

Variants of alpha 1-antitrypsin in Puerto Rican children with asthma
Colp C; Pappas J; Moran D; Lieberman J
1993 Mar;103(3):812-815, Chest
— id: 48979, year: 1993, vol: 103, page: 812, stat: Journal Article,