RichardEPersonMD

PubMed

• 35 citations
  Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
  Michael D. Fountain, David S. Oleson, Megan E. Rech, Lara Segebrecht, Jill V. Hunter, John M. McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfel...> ;Genetics in Medicine. 2019 Aug 1
• 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
• 154 citations
  Molecular diagnostic experience of whole-exome sequencing in adult patients
  Jennifer E. Posey, Jill A. Rosenfeld, Regis A. James, Matthew N. Bainbridge, Zhiyv Niu, Xia Wang, Shweta U. Dhar, Wojciech Wiszniewski, Zeynep Coban Akdemir, Tomasz Ga...> ;Genetics in Medicine. 2016 Jul 1
• 16 citations
  Novel X‐linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R
  Paldeep S. Atwal, Sophie Blease, Alicia Braxton, Julia Graves, Weimin He, Richard E. Person, Leah Slattery, Jonathan A. Bernstein, Louanne Hudgins> ;American Journal of Medical Genetics. Part A. 2016 Apr 1
• 980 citations
  Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
  Yaping Yang, Donna M. Muzny, Fan Xia, Zhiyv Niu, Richard E. Person, Yan Ding, Patricia A. Ward, Alicia Braxton, Min Wang, Christian J. Buhay, Narayanan Veeraraghavan, ...> ;JAMA. 2014 Nov 12
• 69 citations
  Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome
  Seema R. Lalani, Jing Zhang, Christian P. Schaaf, Chester W. Brown, Pilar L. Magoulas, Anne Chun Hui Tsai, Areeg El-Gharbawy, Klaas J. Wierenga, Dennis Bartholomew, Ch...> ;American Journal of Human Genetics. 2014 Nov 6
• 108 citations
  Truncation of Ube3a-ATS unsilences paternal Ube3a and ameliorates behavioral defects in the Angelman syndrome mouse model.
  Linyan Meng, Richard E. Person, Wei Huang, Ping Jun Zhu, Mauro Costa-Mattioli, Arthur L. Beaudet> ;Plos Genetics. 2013 Dec 26
• 1381 citations
  Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
  Yaping Yang, Donna M. Muzny, Jeffrey G. Reid, Matthew N. Bainbridge, Alecia Willis, Patricia A. Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu, Matthew T. Hardi...> ;The New England Journal of Medicine. 2013 Oct 16
• 114 citations
  Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder
  Przemyslaw Szafranski, Avinash V. Dharmadhikari, Erwin Brosens, Priyatansh Gurha, Katarzyna E. Kolodziejska, Ou Zhishuo, Piotr Dittwald, Tadeusz Majewski, K. Naga Moha...> ;Genome Research. 2013 Jan 1
• 106 citations
  Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
  Przemyslaw Szafranski, Christian P. Schaaf, Richard E. Person, Ian B. Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A. Bacino, Seema R. Lalani, ...> ;Human Mutation. 2010 Jul 1
• 239 citations
  Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
  Angela L Duker, Blake C. Ballif, Erawati V. Bawle, Richard E. Person, Sangeetha Mahadevan, Sarah Alliman, Regina Thompson, Ryan N. Traylor, Bassem A. Bejjani, Lisa G. ...> ;European Journal of Human Genetics. 2010 Jun 30
• 25 citations
  Contributions to Neutropenia from PFAAP5 (N4BP2L2), a Novel Protein Mediating Transcriptional Repressor Cooperation between Gfi1 and Neutrophil Elastase
  Stephen J. Salipante, Meghan E. B. Rojas, Brice Korkmaz, Zhijun Duan, Jeremy Wechsler, Kathleen F. Benson, Richard E. Person, H. Leighton Grimes, Marshall S. Horwitz> ;Molecular and Cellular Biology. 2009 Aug 15
• 64 citations
  Epigenetic profiling at mouse imprinted gene clusters reveals novel epigenetic and genetic features at differentially methylated regions.
  Scott V. Dindot, Richard E. Person, Mark A. Strivens, Rejinaldo Garcia, Arthur L. Beaudet> ;Genome Research. 2009 Aug 1
• 414 citations
  Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster
  Trilochan Sahoo, Daniela del Gaudio, Jennifer R. German, Marwan Shinawi, Sarika U. Peters, Richard E. Person, Adolfo D. Garnica, Sau Wai Cheung, Arthur L. Beaudet> ;Nature Genetics. 2008 May 25
• 69 citations
  Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5.
  Zhijun Duan, Richard E. Person, Hu-Hui Lee, Shi Huang, Jean Donadieu, Raffaele Badolato, H. Leighton Grimes, Thalia Papayannopoulou, Marshall S. Horwitz> ;Molecular and Cellular Biology. 2007 Oct 1
• 58 citations
  Hereditary neutropenia: dogs explain human neutrophil elastase mutations
  Kathleen F. Benson, Zhijun Duan, Feng-Qian Li, Richard E. Person> ;Trends in Molecular Medicine. 2004 Apr 1
• 7 citations
  Enteritis necroticans with recurrent enterocutaneous fistulae caused by Clostridium perfringens in a child with cyclic neutropenia.
  Ding You Li, Ann O. Scheimann, J. Glenn Songer, Richard E. Person, Marshall Horwitz, Linda Resar, Kathleen B. Schwarz> ;Journal of Pediatric Gastroenterology and Nutrition. 2004 Feb 1
• 33 citations
  Lymphoid enhancer factor-1 links two hereditary leukemia syndromes through core-binding factor alpha regulation of ELA2.
  Feng-Qian Li, Richard E. Person, Ken-Ichi Takemaru, Kayleen Williams, Kimberly Meade-White, Ayse Hulya Ozsahin, Tayfun Güngör, Randall T. Moon, Marshall S. Horwitz> ;The Journal of Biological Chemistry. 2004 Jan 23
• 14 citations
  Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine ...
  Kathleen F. Benson, Richard E. Person, Feng-Qian Li, Kayleen Williams> ;Nucleic Acids Research. 2004 Jan 1
• 132 citations
  Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase.
  Kathleen F. Benson, Feng-Qian Li, Richard E. Person, Dalila Albani, Zhijun Duan, Jeremy Wechsler, Kimberly Meade-White, Kayleen Williams, Gregory M. Acland, Glenn P. N...> ;Nature Genetics. 2003 Aug 3
• 283 citations
  Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.
  Richard E. Person, Feng-Qian Li, Zhijun Duan, Kathleen F. Benson, Jeremy Wechsler, Helen A. Papadaki, George M. Eliopoulos, Christina L. Kaufman, Salvatore Bertolone, ...> ;Nature Genetics. 2003 Jul 1
• 30 citations
  Role of neutrophil elastase in bone marrow failure syndromes: molecular genetic revival of the chalone hypothesis.
  Kathleen F. Benson, Zhijun Duan, Richard E. Person, Jeremy Wechsler, Kayleen Williams, Dalila Albani, Feng-Qian Li> ;Current Opinion in Hematology. 2003 Jan 1
• Leukemia in severe congenital neutropenia: defective proteolysis suggests new pathways to malignancy and opportunities for therapy.
  Horwitz, M., Li, F., Albani, D., Duan, Z., Person, R.E., Meade-White, K., Benson, K.F.> ;Cancer Invest. 2003
• 16 citations
  Further evidence for the role of free radicals in the limb teratogenicity of L-NAME.
  Alan G. Fantel, Richard E. Person> ;Teratology. 2002 Jul 1
• 45 citations
  Involvement of mitochondria and other free radical sources in normal and abnormal fetal development.
  Alan G. Fantel, Richard E. Person> ;Annals of the New York Academy of Sciences. 2002 Apr 1
• Join now to see all