JohnPappasMD

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, Shachar Zuckerman, Hagar Mor-Shaked, Vardiella Meiner, Kevin T Booth, John Pappas> ;American Journal of Medical Genetics. Part A. 2022 Oct 1
• 2 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, Carey-Anne Evans, Pinar Bayrak-Toydemir, Stephanie Htun, Ying Zhu, Alan Ma, Sally An...> ;Genetics in Medicine. 2022 Sep 1
• 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, Ligia Mateiu, Merlijn Nemegeer, Josephina A N Meester, Alexandra Afenj...> ;Genetics in Medicine. 2022 Jul 1
• 10 citations
  Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
  Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere, Maria J. Guillen Sacoto, Francisca Milan Zamora, Yue Si, Rachel Rabin, John Pappas, Deborah L. Renaud, Natalie H...> ;American Journal of Medical Genetics. Part A. 2021 Aug 26
• 5 citations
  PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
  Sugi Panneerselvam, Julia Wang, Wenmiao Zhu, Hongzheng Dai, John Pappas, Rachel Rabin, Karen J. Low, Jill A. Rosenfeld, Lisa Emrick, Rui Xiao, Fan Xia, Yaping Yang, Ch...> ;Clinical Genetics. 2021 May 8
• 5 citations
  EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
  Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, S. A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Fa...> ;Orphanet Journal of Rare Diseases. 2021 Mar 18
• 5 citations
  Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population.
  Rachel Rabin, Yoel Hirsch, Martin Johansson, Joseph Ekstein, Ahron Ekstein, John Pappas> ;American Journal of Medical Genetics. Part A. 2021 Mar 8
• 7 citations
  CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants
  Yuri A. Zarate, Tomoko Uehara, Kota Abe, Masayuki Oginuma, Sora Harako, Shizuka Ishitani, Anna-Elina Lehesjoki, Tatjana Bierhals, Katja Kloth, Nadja Ehmke, Denise Horn...> ;Genetics in Medicine. 2021 Jan 25
• 8 citations
  A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
  Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T. Booth, Hela Azaiez, Devorah Yefet, Adina Quint, Tzvi Weiden, Zippora Brownstein, Michal Macarov, Bella Davidov, John P...> ;European Journal of Human Genetics. 2021 Jan 4
• 36 citations
  Germline AGO2 mutations impair RNA interference and human neurological development
  Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders, Andriy Kazantsev, Fatemeh Hassani Nia, Alexander Bartholomäus, Victoria Martens, Astrid Bruckmann, Veronika Gr...> ;Nature Communications. 2020 Nov 16
• 54 citations
  De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
  Maria J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin W. Barañano, Lauren C. Briere, Julie S. Cohen, Willi...> ;American Journal of Human Genetics. 2020 Aug 6
• 12 citations
  Genotype–phenotype correlation at codon 1740 of SETD2
  Rachel Rabin, Alireza Radmanesh, Ian A. Glass, William B. Dobyns, Kimberly A. Aldinger, Joseph T. Shieh, Shelby Romoser, Hannah Bombei, Leah Dowsett, Pamela Trapane, J...> ;American Journal of Medical Genetics. Part A. 2020 Jul 24
• 6 citations
  Transcriptome sequencing identifies a noncoding, deep intronic variant in CLCN7 causing autosomal recessive osteopetrosis.
  Odelia Chorin, Naomi Yachelevich, Khaled Mohamed, Ilana Moscatelli, John Pappas, Kim Henriksen, Gilad D. Evrony> ;Molecular Genetics & Genomic Medicine. 2020 Jul 21
• 65 citations
  Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
  Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine A. Bosanko, Dus...> ;Human Mutation. 2020 Jan 1
• 16 citations
  Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
  Lynn M. Boyden, Lihi Atzmony, Claire E. Hamilton, Jing Zhou, Young H. Lim, Ronghua Hu, John Pappas, Rachel Rabin, Joseph Ekstien, Yoel Hirsch, Julie S. Prendiville, Ri...> ;American Journal of Human Genetics. 2019 Nov 7
• 32 citations
  In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene
  Cyril J. Peter, Atsushi Saito, Yuto Hasegawa, Yuya Tanaka, Mohika Nagpal, Gabriel Perez, Emily Alway, Sergio Espeso-Gil, Tariq Fayyad, Chana Ratner, Aslihan Dincer, Ac...> ;Nature Communications. 2019 Sep 11
• 13 citations
  HIST1H1E heterozygous protein-truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIS...
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , > ;American Journal of Medical Genetics. Part A. 2019 Aug 9
• 8 citations
  Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases
  Rachel Rabin, Yoel Hirsch, Martin Johansson, Joseph Ekstein, David A. Zeevi, Beth Keena, Elaine H. Zackai, John Pappas> ;American Journal of Medical Genetics. Part A. 2019 Jul 9
• 1 citations
  Hyponatremic Seizures and Adrenal Hypoplasia Congenita in a Neonate with Congenital Diaphragmatic Hernia
  Sourabh Verma, Sheryl Purrier, Emily Breidbart, John Pappas, Pradeep V. Mally, Tara M. Randis> ;Case Reports in Pediatrics. 2019 May 27
• 19 citations
  Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
  Erin Torti, Boris Keren, Elizabeth E. Palmer, Zehua Zhu, Alexandra Afenjar, Ilse J. Anderson, Marisa V. Andrews, Celia Atkinson, Margaret G. Au, Susan A. Berry, Kevin ...> ;Genetics in Medicine. 2019 Feb 11
• 7 citations
  Intellectual disability due to monoallelic variant in GATAD2B and mosaicism in unaffected parent.
  Rachel Rabin, Francisca Millan, Juan Cabrera-Luque, John Pappas> ;American Journal of Medical Genetics. Part A. 2018 Dec 1
• 113 citations
  Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
  Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P. Bar...> ;American Journal of Human Genetics. 2018 Jan 4
• 2 citations
  Kufor-Rakeb Syndrome Due to a Novel ATP13A2 Mutation in 2 Chinese-American Brothers
  Evan Noch, Claire Henchcliffe, Natalie Hellmers, Mary Lynn Chu, John Pappas, Ellen Moran, Wendy Alcaraz, Harini Sarva> ;Movement Disorders Clinical Practice. 2018 Jan 1
• 15 citations
  Loss‐of‐function variants in NFIA provide further support that NFIA is a critical gene in 1p32‐p31 deletion syndrome: A four patient series
  Anya Revah-Politi, Mythily Ganapathi, Louise Bier, Megan T. Cho, David Goldstein, Parisa Hemati, Alejandro Iglesias, Jane Juusola, John Pappas, Slavé Petrovski, Ashley...> ;American Journal of Medical Genetics. Part A. 2017 Sep 22
• 2 citations
  Clinical Phenotype in a Toddler with a Novel Heterozygous Mutation of the Vitamin D Receptor
  Preneet Cheema Brar, Elena Dingle, John Pappas, Manish Raisingani> ;Case Reports in Endocrinology. 2017 May 23
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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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