DavidBEvermanMD

PubMed

• 2 citations
  DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
  Jet Coenen-van der Spek, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Michael A Levy, Matthew L Tedder, Raymond J Louie, Robin S Fletcher, Hannah W Moore, Anna Ch...> ;Genetics in Medicine. 2023 Jan 1
• Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
  Jessica A Cooley Coleman, Timothy Fee, Renee Bend, Raymond Louie, Fran Annese, Jennifer Stallworth, Jessica Worthington, Caroline Black Buchanan, David B Everman, Stev...> ;American Journal of Medical Genetics. Part A. 2022 Oct 1
• 13 citations
  DLG4-related synaptopathy: a new rare brain disorder
  Agustí Rodríguez-Palmero, Melissa Maria Boerrigter, David Gómez-Andrés, Kimberly A. Aldinger, Iñigo Marcos-Alcalde, Bernt Popp, David B. Everman, Alysia Kern Lovgren, ...> ;Genetics in Medicine. 2021 Feb 17
• 19 citations
  Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy.
  Tara L. Wenger, Randall A. Bly, Natalie Wu, Catherine M. Albert, Julie Park, Joseph T. Shieh, Jirat Chenbhanich, Carrie L. Heike, Margaret P. Adam, Irene Chang, Angela...> ;American Journal of Medical Genetics. Part A. 2020 Jul 1
• 20 citations
  MEF2C Hypofunction in Neuronal and Neuroimmune Populations Produces MEF2C Haploinsufficiency Syndrome-like Behaviors in Mice.
  Adam J Harrington, Stefano Berto, Kayla Blankenship, Jennifer Y. Cho, Ahlem Assali, Benjamin M. Siemsen, Hannah W. Moore, Evgeny Tsvetkov, Acadia Thielking, Genevieve ...> ;Biological Psychiatry. 2020 Sep 15
• 9 citations
  BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
  Tiana M. Scott, Hui Guo, Evan E. Eichler, Jill A. Rosenfeld, Kaifang Pang, Zhandong Liu, Seema R. Lalani, Weimin Bi, Yaping Yang, Carlos A. Bacino, Haley Streff, Andre...> ;Human Mutation. 2020 Feb 7
• 51 citations
  Redefining the Etiologic Landscape of Cerebellar Malformations.
  Kimberly A. Aldinger, Andrew E. Timms, Zachary Thomson, Ghayda M. Mirzaa, James T. Bennett, Alexander B. Rosenberg, Charles M. Roco, Matthew Hirano, Fatima Abidi, Part...> ;American Journal of Human Genetics. 2019 Sep 5
• 28 citations
  Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
  Diana Le Duc, Cecilia R Giulivi, Susan M. Hiatt, Eleonora Napoli, Alexios A Panoutsopoulos, Angelo Harlan De Crescenzo, Urania Kotzaeridou, Steffen Syrbe, Evdokia Anag...> ;Brain. 2019 Sep 1
• 33 citations
  A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP Complexes
  David C. Gershlick, Morié Ishida, Julie R. Jones, Allison Bellomo, Juan S. Bonifacino, David B. Everman> ;Human Molecular Genetics. 2019 May 1
• 57 citations
  Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
  Eric G. Bend, Erfan Aref-Eshghi, David B. Everman, R. Curtis Rogers, Sara S. Cathey, Eloise J. Prijoles, Michael J. Lyons, Heather Davis, Katie Clarkson, Karen W. Grip...> ;Clinical Epigenetics. 2019 Apr 27
• 54 citations
  RIT1 oncoproteins escape LZTR1-mediated proteolysis.
  Pau Castel, Alice Cheng, Antonio Cuevas-Navarro, David B. Everman, Alex G. Papageorge, Dhirendra K. Simanshu, Alexandra Tankka, Jacqueline Galeas, Anatoly Urisman, Fra...> ;Science. 2019 Mar 15
• 29 citations
  Cornelia de Lange syndrome in diverse populations
  Leah Dowsett, Antonio R. Porras, Paul Kruszka, Brandon Davis, Tommy Hu, Engela Honey, E.V. Badoe, Meow-Keong Thong, Eyby Leon, Katta M. Girisha, Anju Shukla, Shalini S...> ;American Journal of Medical Genetics. Part A. 2019 Feb 1
• 48 citations
  Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Constance Smith-Hicks, Carol L. Greene, Mary-Alice Abbott, Victoria Mok Siu, Amy R. U. L. Calhoun, Arti Pandya, Chumei Li, Elizabeth A. Sellars, Julie ...> ;American Journal of Medical Genetics. Part A. 2018 Apr 1
• 116 citations
  Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
  Jennifer J. Johnston, Jasper J. van der Smagt, Jill A. Rosenfeld, Alistair T. Pagnamenta, Abdulrahman Alswaid, Eva H. Baker, Edward Blair, Guntram Borck, Julia Brinkma...> ;Genetics in Medicine. 2018 Feb 22
• 20 citations
  The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.
  Martina Proietti Onori, Balwina Koopal, David B. Everman, Jessica D. Worthington, Julie R. Jones, Melissa A. Ploeg, Edwin Mientjes, Bregje W.M. van Bon, Tjitske Kleefs...> ;Human Mutation. 2018 Jan 1
• 6 citations
  Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-depende...
  Maja Sukalo, Eva Schäflein, Ina Schanze, David B. Everman, Nima Rezaei, Jesús Argente, Isabel Lorda-Sanchez, Charu Deshpande, Tsutomu Takahashi, Alexander Kleger, Mart...> ;Molecular Genetics & Genomic Medicine. 2017 Jul 31
• 29 citations
  Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.
  Yuri A. Zarate, Louisa Kalsner, Alice Basinger, Julie R. Jones, Chumei Li, Marta Szybowska, Zhou Luan Xu, Samantha A. Schrier Vergano, Aisling R. Caffrey, Cruz Velasco...> ;Clinical Genetics. 2017 Oct 1
• 37 citations
  Spinocerebellar ataxia type 29 due to mutations in ITPR1 : a case series and review of this emerging congenital ataxia
  Jessica L. Zambonin, Allison Bellomo, Hilla Ben-Pazi, David B. Everman, Lee M. Frazer, Michael T. Geraghty, Amy Harper, Julie R. Jones, Benjamin Kamien, Kristin D. Ker...> ;Orphanet Journal of Rare Diseases. 2017 Jun 28
• 28 citations
  Neurobiologically-based treatments in Rett syndrome: opportunities and challenges.
  Jennifer L. Stallworth, David B. Everman, Steven A. Skinner> ;Expert Opinion on Orphan Drugs. 2016 Sep 10
• 42 citations
  Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder
  Francisca Millan, Megan T. Cho, Kyle Retterer, Kristin G. Monaghan, Renkui Bai, Patrik Vitazka, David B. Everman, Brooke T. Smith, Brad Angle, Victoria Roberts, LaDonn...> ;American Journal of Medical Genetics. Part A. 2016 Jul 1
• 25 citations
  Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum
  Maja Sukalo, Ariane Fiedler, Celina Guzman, Stephanie Spranger, Marie-Claude Addor, Jiad N. Mcheik, Manuel Oltra Benavent, Jan Maarten Cobben, Lynette A. Gillis, Amy S...> ;Human Mutation. 2014 May 1
• 36 citations
  Clinical, genetic, and molecular aspects of split-hand/foot malformation: an update.
  Fiorella Gurrieri, David B. Everman> ;American Journal of Medical Genetics. Part A. 2013 Nov 1
• Clinical utility of the X-chromosome array
  Yuri A. Zarate, Alka Dwivedi, Frank O. Bartel, M. Allison Bellomo, Sara S. Cathey, Neena L. Champaigne, L. Kate Clarkson, Barbara R. DuPont, David B. Everman, Joseph S...> ;American Journal of Medical Genetics. Part A. 2013 Jan 1
• 136 citations
  Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis
  John A. Martignetti, Lifeng Tian, Dong Li, Maria Celeste M. Ramirez, Olga Camacho-Vanegas, Sandra Catalina Camacho, Yiran Guo, Dina J. Zand, Audrey M. Bernstein, Sandr...> ;American Journal of Human Genetics. 2013 Jun 6
• Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.
  Hodge, J. C.,Mitchell, E.,Pillalamarri, V.,Toler, T. L.,Bartel, F.,Kearney, H. M.,Zou, Y. S.,Tan, W. H.,Hanscom, C.,Kirmani, S.,Hanson, R. R.,Skinner, S. A.,Rogers, R....> ;Mol. Psychiatry. 2013 Apr 16
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