PeterLNagyMD

PubMed

• 12 citations
  Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.
  M Anwar Iqbal, Ulrich Broeckel, Brynn Levy, Steven Skinner, Nikhil S Sahajpal, Vanessa Rodriguez, Aaron Stence, Kamel Awayda, Gunter Scharer, Cindy Skinner, Roger Stev...> ;The Journal of Molecular Diagnostics. 2023 Mar 1
• 7 citations
  The histone H3K9M mutation synergizes with H3K14 ubiquitylation to selectively sequester histone H3K9 methyltransferase Clr4 at heterochromatin.
  Chun-Min Shan, Jin-Kwang Kim, Jiyong Wang, Kehan Bao, Yadong Sun, Huijie Chen, Jia-Xing Yue, Alessandro Stirpe, Zhiguo Zhang, Chao Lu, Thomas Schalch, Gianni Liti, Pet...> ;Cell Reports. 2021 May 18
• 21 citations
  Association of Group A Streptococcus Exposure and Exacerbations of Chronic Tic Disorders: A Multinational Prospective Cohort Study
  Davide Martino, Anette Schrag, Zacharias Anastasiou, Alan Apter, Noa Benaroya-Milstein, Maura Buttiglione, Francesco Cardona, Roberta Creti, Androulla Efstratiou, Tamm...> ;Neurology. 2021 Mar 23
• 3 citations
  Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.
  Christian Peña-Padilla, Ivón Romero-Valenzuela, Alejandra Baldomero-López, Ana Karen Sandoval-Talamantes, Abril Castellanos-González, Peter L. Nagy, Rebecca R. Kelly, ...> ;Neuromuscular Disorders. 2021 Feb 9
• Correction: Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third.
  Péter L Nagy, Judit Olasz, Endre Neparáczki, Nicholas Rouse, Karan Kapuria, Samantha Cano, Huijie Chen, Julie Di Cristofaro, Goran Runfeldt, Natalia Ekomasova, Zoltán ...> ;European Journal of Human Genetics. 2021 Aug 1
• 5 citations
  Determination of the phylogenetic origins of the Árpád Dynasty based on Y chromosome sequencing of Béla the Third.
  Péter L Nagy, Judit Olasz, Endre Neparáczki, Nicholas Rouse, Karan Kapuria, Samantha Cano, Huijie Chen, Julie Di Cristofaro, Goran Runfeldt, Natalia Ekomasova, Zoltán ...> ;European Journal of Human Genetics. 2021 Jan 1
• 2 citations
  Blood group typing from whole-genome sequencing data
  Julien Paganini, Peter L. Nagy, Nicholas A. Rouse, Philippe Gouret, Jacques Chiaroni, Chistophe Picard, Julie Di Cristofaro> ;Plos One. 2020 Nov 12
• 19 citations
  Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs
  Catherine Do, Emmanuel L. P. Dumont, Martha Salas, Angelica Castano, Huthayfa Mujahed, Leonel Maldonado, Arunjot Singh, Sonia DaSilva-Arnold, Govind Bhagat, Soren Lehm...> ;Genome Biology. 2020 Jun 29
• 1 citations
  A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy.
  Ezgi Saylam, Steven A. Moore, Akilandeswari Aravindhan, Heather Marton, Peter L. Nagy, Murat Gokden, Mary O. Cox, Vikki Stefans, Aravindhan Veerapandiyan> ;Neurology. Genetics. 2020 Feb 1
• 15 citations
  Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration
  Christina Fagerberg, Adrian Taylor, Felix Distelmaier, Henrik Daa Schrøder, Maria Kibaek, Dagmar Wieczorek, Mark A. Tarnopolsky, Lauren Brady, Martin Jakob Larsen, Ram...> ;Brain. 2020 Jan 1
• 7 citations
  Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant
  John C. Fyfe, Shelby L. Hemker, Alycia Frampton, Karthik Raj, Peter L. Nagy, Kristi J. Gibbon, Urs Giger> ;BMC Veterinary Research. 2018 Dec 27
• 3 citations
  Clinical Transcriptome Sequencing Confirms Activation of a Cryptic Splice Site in Suspected SYNGAP1-Related Disorder.
  Elise Brimble, Christopher Lee-Messer, Peter L Nagy, Jennifer Propst, Maura R.Z. Ruzhnikov> ;Molecular Syndromology. 2018 Aug 28
• 41 citations
  The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
  Curtis R. Coughlin, Michael A. Swanson, Elaine B. Spector, Naomi Meeks, Kathryn E. Kronquist, Mezhgan Aslamy, Michael F. Wempe, Clara D.M. van Karnebeek, Sidney M. Gos...> ;Journal of Inherited Metabolic Disease. 2018 Jul 24
• 13 citations
  Brain-Derived Neurotrophic Factor Elevates Activating Transcription Factor 4 (ATF4) in Neurons and Promotes ATF4-Dependent Induction of Sesn2.
  Jin Liu, Fatou Amar, Carlo Corona, Raphaella W. L. So, Stuart J. Andrews, Peter L. Nagy, Michael L. Shelanski, Lloyd A. Greene> ;Frontiers in Molecular Neuroscience. 2018 Mar 1
• 2 citations
  Next-Generation Sequencing and Mutational Analysis: Implications for Genes Encoding LINC Complex Proteins.
  Peter L. Nagy, Howard J. Worman> ;Methods in Molecular Biology. 2018 Jan 1
• 6 citations
  Ultra-rare mutations in SRCAP segregate in Caribbean Hispanic families with Alzheimer disease.
  Badri N. Vardarajan, Giuseppe Tosto, Roger Lefort, Lei Yu, David A Bennett, Philip L. De Jager, Sandra Barral, Dolly Reyes-Dumeyer, Peter L Nagy, Joseph H. Lee, Rong C...> ;Neurology. Genetics. 2017 Aug 24
• 127 citations
  Implementation of next generation sequencing into pediatric hematology-oncology practice: moving beyond actionable alterations
  Jennifer A. Oberg, Julia L. Glade Bender, Maria Luisa Sulis, Danielle Pendrick, Anthony N. Sireci, Susan J. Hsiao, Andrew T. Turk, Filemon S. Dela Cruz, Hanina Hibshoo...> ;Genome Medicine. 2016 Dec 23
• 18 citations
  Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
  Hemant Varma, Phyllis L. Faust, Alejandro D. Iglesias, Stephen M. Lagana, Karen Wou, Michio Hirano, Salvatore DiMauro, Mahesh M. Mansukani, Kirsten E. Hoff, Peter L. N...> ;European Journal of Medical Genetics. 2016 Oct 1
• 28 citations
  A histone H3K9M mutation traps histone methyltransferase Clr4 to prevent heterochromatin spreading
  Chun-Min Shan, Jiyong Wang, Ke Xu, Huijie Chen, Jia-Xing Yue, Stuart J. Andrews, James J. Moresco, John R. Yates, Peter L. Nagy, Liang Tong, Songtao Jia> ;Elife. 2016 Sep 20
• 46 citations
  A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder
  Yuexia Wang, Uta Lichter-Konecki, Kwame Anyane-Yeboa, Jessica E. Shaw, Jonathan T. Lu, Cecilia Östlund, Ji-Yeon Shin, Lorraine N. Clark, Gregg G. Gundersen, Peter L. N...> ;Journal of Cell Science. 2016 May 15
• 58 citations
  Cognitive-behavioral screening reveals prevalent impairment in a large multicenter ALS cohort
  Jennifer Murphy, Pam Factor-Litvak, Raymond R. Goetz, Catherine Lomen-Hoerth, Peter L. Nagy, Jonathan Hupf, Jessica Singleton, Susan C. Woolley, Howard Andrews, Daragh...> ;Neurology. 2016 Mar 1
• 21 citations
  Time trends in axilla management among early breast cancer patients: Persisting major variation in clinical practice across European centers.
  Adam Gondos, Lina Jansen, Jörg Heil, Andreas Schneeweiss, Adri C. Voogd, Jan Frisell, Irma Fredriksson, Ulla Johansson, T.F. Tvedskov, Maj-Britt Jensen, Eva Balslev, O...> ;Acta Oncologica. 2016 Feb 15
• 33 citations
  Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
  Sandra Mercier, Sébastien Küry, Emmanuelle Salort-Campana, Armelle Magot, Uchenna Agbim, Thomas Besnard, Nathalie Bodak, Chantal Bou-Hanna, Flora Breheret, Perrine Bru...> ;Orphanet Journal of Rare Diseases. 2015 Oct 15
• 32 citations
  Characterization of a novel fusion gene EML4-NTRK3 in a case of recurrent congenital fibrosarcoma
  Sarah Tannenbaum-Dvir, Julia L. Glade Bender, Alanna J. Church, Katherine A. Janeway, Marian H. Harris, Mahesh M. Mansukhani, Peter L. Nagy, Stuart J. Andrews, Vundava...> ;Cold Spring Harbor Molecular Case Studies. 2015 Oct 1
• 5 citations
  The role of clinical genomic testing in diagnosis and discovery of pathogenic mutations
  Peter L. Nagy, Mahesh Mansukhani> ;Expert Review of Molecular Diagnostics. 2015 Aug 27
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