JohnPappasMD

PubMed

• Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
  Torti, E.,Keren, B.,Palmer, E. E.,Zhu, Z.,Afenjar, A.,Anderson, I. J.,Andrews, M. V.,Atkinson, C.,Au, M.,Berry, S. A.,Bowling, K. M.,Boyle, J.,Buratti, J.,Cathey, S. S...> ;Genet. Med.. 2019 Feb 12
• Genotype-phenotype correlations in individuals with pathogenic RERE variants.
  Jordan, V. K.,Fregeau, B.,Ge, X.,Giordano, J.,Wapner, R. J.,Balci, T. B.,Carter, M. T.,Bernat, J. A.,Moccia, A. N.,Srivastava, A.,Martin, D. M.,Bielas, S. L.,Pappas, J...> ;Hum. Mutat.. 2018 Jan 14
• Loss-of-function variants in NFIA provide further support that NFIA is a critical gene in 1p32-p31 deletion syndrome: A four patient series.
  Revah-Politi, A.,Ganapathi, M.,Bier, L.,Cho, M. T.,Goldstein, D. B.,Hemati, P.,Iglesias, A.,Juusola, J.,Pappas, J.,Petrovski, S.,Wilson, A. L.,Aggarwal, V. S.,Anyane-Y...> ;Am. J. Med. Genet. A. 1900 Jan 01
• A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3
  Hsiao-Tuan Chao, Mariska Davids, Elizabeth A. Burke, John G. Pappas, Jill A. Rosenfeld, Alexandra J. McCarty, Taylor Davis, Lynne A. Wolfe, Camilo Toro, Cynthia J. Tif...> ;American Journal of Human Genetics. 2017 Jan 5
• Potocki-Lupski syndrome in conjunction with bilateral clubfoot.
  Dinesh Dhanaraj, Alice Chu, John G. Pappas, Ellen Moran, Wallace B. Lehman> ;Journal of Pediatric Orthopaedics B. 2015 Jul 1
• 6 citations
  Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
  Nadirah Damseh, Alexandre Simonin, Chaim Jalas, Joseph A. Picoraro, Avraham Shaag, Megan T. Cho, Barak Yaacov, Julie Neidich, Motee Al-Ashhab, Jane Juusola, Sherri J. ...> ;Journal of Medical Genetics. 2015 Jun 3
• The Clinical Course of an Overgrowth Syndrome, From Diagnosis in Infancy Through Adulthood: The Case of Beckwith–Wiedemann Syndrome
  John G. Pappas> ;Current Problems in Pediatric and Adolescent Health Care. 2015 Apr 1
• Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance
  Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil-Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige...> ;Human Molecular Genetics. 2014 Jun 1
• Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy.
  Patel PR Pappas J Arva NC Franklin B Brar PC> ;J Pediatr Endocrinol Metab. 2013
• Complex chromosome rearrangement of 6p25.3->p23 and 12q24.32->qter in a child with moyamoya.
  Rebecca E. Rosenberg, Maureen Egan, Shaun D. Rodgers, David H. Harter, Rachel D. Burnside, Sarah S. Milla, John G. Pappas> ;Pediatrics. 2013 Jun 1
• Three cases of isolated terminal deletion of chromosome 8p without heart defects presenting with a mild phenotype.
  Burnside RD Pappas JG Sacharow S Applegate C Hamosh A Gadi IK Jaswaney V Keitges E Phillips KK Potluri VR Risheg H Smith JL Tepperberg JH Schwartz S Pape...> ;Am J Med Genet A. 2013 Apr
• Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature.
  Nicoleta C. Arva, John G. Pappas, Teena Bhatla, Elizabeth A. Raetz, Michael Macari, Howard B. Ginsburg, Cristina H. Hajdu> ;The American Journal of Surgical Pathology. 2012 Jan 1
• Congenital absence of the superior oblique tendon in Noonan-neurofibromatosis syndrome.
  Sugumaran HK Pappas JG Kodsi SR> ;J AAPOS. 2011 Dec
• UPD detection using homozygosity profiling with a SNP genotyping microarray.
  Papenhausen P Schwartz S Risheg H Keitges E Gadi I Burnside RD Jaswaney V Pappas J Pasion R Friedman K Tepperberg J> ;Am J Med Genet A. 2011 Apr
• Effect of growth hormone therapy on severe short stature and skeletal deformities in a patient with combined Turner syndrome and Langer mesomelic dysplasia.
  Shah BC Moran ES Zinn AR Pappas JG> ;J Clin Endocrinol Metab. 2009 Dec
• Greig cephalopolysyndactyly syndrome: diagnosis based on prenatal sonographic features coupled with comparative genomic hybridization.
  Ilan E. Timor-Tritsch, Sarah Kapp, Robert W. Berg, Bassem A. Bejjani, Sara Anne Adams, Ana Monteagudo, Michael Y. Divon, John G. Pappas> ;Journal of Ultrasound in Medicine. 2009 Dec 1
• Successful pregnancy outcome in Ehlers-Danlos syndrome, vascular type.
  Palmquist M Pappas JG Petrikovsky B Blakemore K Roshan D> ;J Matern Fetal Neonatal Med. 2009 Oct
• A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
  Bicknell LS Farrington-Rock C Shafeghati Y Rump P Alanay Y Alembik Y Al-Madani N Firth H Karimi-Nejad MH Kim CA Leask K Maisenbacher M Moran E Pappas JG ...> ;J Med Genet. 2007 Feb
• Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation.
  Fiske J Patel R Kau E Pappas JG Garcia RA Taneja SS> ;Urology. 2005 Dec
• A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.
  Vuoristo MM Pappas JG Jansen V Ala-Kokko L> ;Am J Med Genet A. 2004 Oct 1
• 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 S...> ;Am J Hum Genet. 1998 Apr
• Variants of alpha 1-antitrypsin in Puerto Rican children with asthma.
  Colp C Pappas J Moran D Lieberman J> ;Chest. 1993 Mar
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Abstracts/Posters

• New syndrome: brain malformations, Peters anomaly and multiple intestinal atresias
  J. G. Pappas, A. L. Shanske, 63rd Annual Meeting of The American Society of Human Genetics, Boston, MA, 10/24/2013
• Aicardi-Goutieres syndrome carrier screening in Ashkenazi Jewish families
  C. Jalas, A. Fedick, C. Landau, C. Halberstam, A. Shaag, W. K. Chung, J. G. Pappas, E. S. Moran, J. Roberts, N. R. Treff, M. Szynkiewicz, G. Rice, Y. J. Crow, O. Elpel..., 63rd Annual Meeting of The American Society of Human Genetics, Boston, MA, 10/23/2013
• Exome sequencing: A challenging prenatal diagnosis case
  Emily Bloom, Elsa Reich, Pe'er Dar, Susan Klugman, John Pappas, ACMG Annual Clinical Genetics Meeting, Nashville, TN, 3/27/2013
• Interstitial Deletion 15q syndrome: A Case with Deletion 15(q21.3q22.2)
  John Pappas, Colin Phoon, Katherine Daley, Peter Papenhausen, Karen Phillips, March 27th at ACMG Annual Clinical Genetics Meeting, Nashville, TN, 3/25/2013
• Compound heterozygous mutations in CNTNAP2 associated with macrocephaly, focal epilepsy, mental retardation and aggressive behavior
  John Pappas, Inna Hughes, Judith Bluvstein, Bradford Coffee, Peter Papenhausen, ACMG Annual Clinical Genetics Meeting, Phoenix, AZ, 3/20/2013
• First report of a patient with mutations in MSH2 and BRCA1: the important role of the genetic counselor
  Elsa Reich, Sylvia Adams, Gary Markoff, Harvey Moore, Bhavana Pothuri, Dhage Shubhada, John Pappas, ACMG Annual Clinical Genetics Meeting, Phoenix, AZ, 3/20/2013
• Triplication of 7q11.23 distal to the critical region for the Williams-Beuren syndrome
  J. G. Pappas, R. D. Nass, E. Ward, I. K. Gadi, 62nd Annual Meeting of The American Society of Human Genetics, San Francisco, CA, 11/7/2012
• dupX(q12q13) syndrome
  John G. Pappas, Erica Ward, Peter R. Papenhausen, ACMG Annual Clinical Genetics Meeting, Charlotte, NC, 3/27/2012
• Severe Aicardi Goutieres syndrome phenotype associated with homozygous exon 1 deletion of SAMHD1 gene
  Ellen S. Moran, Chaim Jalas, John G. Pappas, ACMG Annual Clinical Genetics Meeting, Charlotte, NC, 3/27/2012
• Germline deletion in the INI1/SMARCB1 gene in a child with ependymoma and in his father with multiple schwannomatosis
  JG. Pappas, E. Reich, JC. Allen, J. Wisoff, I. Mikolaenko, LM. Messiaen, 12th International Congress of Human Genetics/61st Annual Meeting of The American Society of Human Genetics, Montreal, Canada, 10/11/2011
• Two cases with microdeletion 16p11.2 and hand abnormalities. (269)
  John G Pappas, Erica Ward, Ellen Moran, ACMG Annual Clinical Genetics Meeting, 3/1/2011
• Discordant monochorionic diamniotic twins carrying a mosaic NF1 mutation
  J. G. Pappas, E. Ward, J. C. Allen, J. Xie, A. Poplawski, L. M. Messiaen, American Society of Human Genetics 60th annual meeting, 11/1/2010
• del(1)(p21p22) syndrome: a Prader Willi like phenotype
  J. G. Pappas, J. Borsuk, P. R. Papenhausen, American Society of Human Genetics 59th annual meeting, 10/1/2009
• Contiguous gene syndrome associated with a 3.384 Mb Interstitial Deletion at Xq22 in a female patient. (223)
  Ellen S Moran, Peter R Papenhausen, John G Pappas, ACMG Annual Clinical Genetics Meeting, 3/1/2009
• Craniosynostosis Syndrome with del(4)(q26q28.3).(222)
  John G Pappas, Hiba Risheg, Elsa Reich, ACMG Annual Clinical Genetics Meeting, 3/1/2009
• The del(8)(p23) syndrome and aniridia
  J. G. Pappas, K. E. Daley, I. K. Gadi, American Society of Human Genetics 58th annual meeting, 11/1/2008
• Duplication 10q. (123)
  Pappas JG, Ward E, DeScipio C, Perle M, ACMG Annual Clinical Genetics Meeting, 3/1/2008
• Persistent Hyperplastic Primary Vitreous and Tuberous Sclerosis
  J. G. Pappas, K. Daley, M. A. Steele, American Society of Human Genetics 57th Annual meeting, 10/1/2007
• Microduplication 22q11.2 syndrome
  Pappas JG, Daley KE, ACMG Annual Clinical Genetics Meeting, 3/1/2007
• Discrepancy of karyotype and phenotype in monochorionic twins
  J. Pappas, K. Daley, A. Roman, American Society of Human Genetics 56th Annual meeting, 10/1/2006
• Discrepant karyotypes in monochorionic twins
  Pappas, JG, ACMG Annual Clinical Genetics Meeting, 3/1/2006
• Null allele at the PAR1 SHOX flanking marker DXYS233 in a patient with Langer mesomelic dysplasia and her mother with Leri Weil dyschondrosteosis
  J.G. Pappas, A.R. Zinn, E.S. Moran, ACMG Annual Clinical Genetics Meeting, 3/17/2005
• The deletion 7q36.3 syndrome
  J. Pappas, E. Moran, American Society of Human Genetics 55th Annual meeting, 1/1/2005
• Phenotypic and Molecular Cytogenetic Characterization of a Child with Terminal Deletion of 7q and Partial Terminal Trisomy of 8q [46,XY,der(7)t(7:8)(q36;q24.3)]
  JG Pappas, PC Patsalis, Annual Clinical Genetics Meeting, 1/1/2004
• Langer Mesomelic Dysplasia in a Patient with 45, X/46, X, idic(X)
  ES Moran, K Hovanes, MA Perle, S Kaffe, JG Pappas, Annual Clinical Genetics Meeting, 1/1/2004
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Lectures

• Genetics of Autism 
  1/1/2013
• Neurofibroma Educational Series: Neurofibromatosis Type 2: an update 
  1/1/2012
• Autism 
  1/1/2012
• Marfan syndrome 
  1/1/2012
• New prenatal genetic tests 
  1/1/2012
• Neurofibroma Educational Series: Neurofibromatosis Type 1: an update 
  1/1/2008
• Arthrogryposis Multiple Congenital parent group,Genetics of arthrogryposis 
  1/1/2008
• Short stature genetics evaluation 
  1/1/2007
• Genetics of hearing loss 
  1/1/2006
• Microdeletion syndromes 
  1/1/2005
• Overgrowth syndromes 
  1/1/2001
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