John Pappas MD

PubMed

• 1 citations
  Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
  Rachel Rabin, Yoel Hirsch, Wendy K Chung, Josef Ekstein, Ephrat Levy-Lahad
  American Journal of Medical Genetics. Part A. 2022-10-01
• 5 citations
  De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
  Kerith-Rae Dias, Colleen M Carlston, Laura E R Blok, Lachlan De Hayr, Urwah Nawaz
  Genetics in Medicine. 2022-09-01
• 2 citations
  Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
  Marije Meuwissen, Aline Verstraeten, Emmanuelle Ranza, Justyna Iwaszkiewicz, Maaike Bastiaansen
  Genetics in Medicine. 2022-07-01

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
• 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
• 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
• 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
• 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
• dupX(q12q13) syndrome
  John G. Pappas, Erica Ward, Peter R. Papenhausen, 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
• Craniosynostosis Syndrome with del(4)(q26q28.3).(222)
  John G Pappas, Hiba Risheg, Elsa Reich, ACMG Annual Clinical Genetics Meeting, 3/1/2009
• 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
• 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
• Multi-Institutional Survey to Assess the Need for Genetic Counseling in Pediatric Cardiology Settings-Patient Perspective
  D. Gruber, R.S. Cooper, J.D. Menasha, M. Rutkowski, D.T. Hsu, J.G. Davis, J.G. Pappas, The American Society of Human Genetics 54th Annual meeting, 1/1/2004
• Turcot syndrome in a family with hMLH1 mutation
  J.G. Pappas, T.P. Nicolaides, E. Reich, The American Society of Human Genetics 54th Annual 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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