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, 10/24/2013Aicardi-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, 10/23/2013Exome sequencing: A challenging prenatal diagnosis case
Emily Bloom, Elsa Reich, Pe'er Dar, Susan Klugman, John Pappas, ACMG Annual Clinical Genetics Meeting, Nashville, TN, 3/27/2013Interstitial 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, 3/25/2013Compound 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, 3/20/2013First 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, 3/20/2013Triplication 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, 11/7/2012dupX(q12q13) syndrome
John G. Pappas, Erica Ward, Peter R. Papenhausen, ACMG Annual Clinical Genetics Meeting, Charlotte, NC, 3/27/2012Severe 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, 3/27/2012Germline 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, 10/11/2011Two cases with microdeletion 16p11.2 and hand abnormalities. (269)
John G Pappas, Erica Ward, Ellen Moran, ACMG Annual Clinical Genetics Meeting, 3/1/2011Discordant 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, 11/1/2010del(1)(p21p22) syndrome: a Prader Willi like phenotype
J. G. Pappas, J. Borsuk, P. R. Papenhausen, American Society of Human Genetics 59th annual meeting, 10/1/2009Contiguous 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, 3/1/2009Craniosynostosis Syndrome with del(4)(q26q28.3).(222)
John G Pappas, Hiba Risheg, Elsa Reich, ACMG Annual Clinical Genetics Meeting, 3/1/2009The del(8)(p23) syndrome and aniridia
J. G. Pappas, K. E. Daley, I. K. Gadi, American Society of Human Genetics 58th annual meeting, 11/1/2008Duplication 10q. (123)
Pappas JG, Ward E, DeScipio C, Perle M, ACMG Annual Clinical Genetics Meeting, 3/1/2008Persistent Hyperplastic Primary Vitreous and Tuberous Sclerosis
J. G. Pappas, K. Daley, M. A. Steele, American Society of Human Genetics 57th Annual meeting, 10/1/2007Microduplication 22q11.2 syndrome
Pappas JG, Daley KE, ACMG Annual Clinical Genetics Meeting, 3/1/2007Discrepancy of karyotype and phenotype in monochorionic twins
J. Pappas, K. Daley, A. Roman, American Society of Human Genetics 56th Annual meeting, 10/1/2006Discrepant karyotypes in monochorionic twins
Pappas, JG, ACMG Annual Clinical Genetics Meeting, 3/1/2006Null 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, 3/17/2005The deletion 7q36.3 syndrome
J. Pappas, E. Moran, American Society of Human Genetics 55th Annual meeting, 1/1/2005Phenotypic 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, 1/1/2004Langer 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- Join now to see all