KarenLDavidMDMS

PubMed

• Moving toward more consistency in variant classification and clinical action.
  Karen L David, Joshua L Deignan> ;Genetics in Medicine. 2023 Jan 1
• Response to Knoppers et al.
  Karen L. David, Robert G. Best, Leslie Manace Brenman, Lynn Wein Bush, Joshua L. Deignan, David Flannery, Jodi D. Hoffman, Ingrid A. Holm, David T. Miller, James O'Lea...> ;Genetics in Medicine. 2019 Apr 11
• 80 citations
  Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
  Karen L. David, Robert G. Best, Leslie Manace Brenman, Lynn Wein Bush, Joshua L. Deignan, David Flannery, Jodi D. Hoffman, Ingrid A. Holm, David T. Miller, James O'Lea...> ;Genetics in Medicine. 2019 Apr 1
• 26 citations
  Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statem...
  Lynn Wein Bush, Louis Bartoshesky, Karen L. David, Benjamin S. Wilfond, Janet L. Williams, Ingrid A. Holm> ;Genetics in Medicine. 2018 Mar 22
• 20 citations
  Defective ciliogenesis in INPP5E-related Joubert syndrome.
  Isabel Hardee, Ariane Soldatos, Mariska Davids, Thierry Vilboux, Camilo Toro, Karen L. David, Carlos Ferreira, Michele Nehrebecky, Joseph Snow, Audrey Thurm, Theo Hell...> ;American Journal of Medical Genetics. Part A. 2017 Oct 20
• 17 citations
  Alacrima as a Harbinger of Adrenal Insufficiency in a Child with Allgrove (AAA) Syndrome.
  Brande Brown, Levon Agdere, Cornelia Muntean, Karen L. David> ;The American Journal of Case Reports. 2016 Oct 4
• 5 citations
  A Case of Beare-Stevenson Syndrome with Unusual Manifestations
  Nitin Ron, Samuel Leung, Erin Carney, Alexis Gerber, Karen Laurie David> ;The American Journal of Case Reports. 2016 Apr 15
• 9 citations
  Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome.
  Yveline Hamon, Monika Legowska, Patricia Fergelot, Sandrine Dallet-Choisy, Louise Newell, Lise Vanderlynden, Ali Kord Valeshabad, Karina Acrich, Hadi Kord, Charalampos...> ;The FEBS Journal. 2016 Feb 1
• 17 citations
  Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies.
  Ingrid M. Wentzensen, Jennifer J. Johnston, Kim M. Keppler-Noreuil, Karina Acrich, Karen L. David, Kisha D. Johnson, John M. Graham, Julie C. Sapp, Leslie G. Biesecker> ;Human Genome Variation. 2015 Nov 19
• 119 citations
  High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phen...
  Kitiwan Rojnueangnit, Jing Xie, Alicia Gomes, Angela Sharp, Tom Callens, Yunjia Chen, Ying Liu, Meagan E. Cochran, Mary Alice Abbott, Joan F. Atkin, Dusica Babovic-Vuk...> ;Human Mutation. 2015 Nov 1
• 52 citations
  Whole exome sequence analysis of Peters anomaly
  Eric Weh, Linda M. Reis, Hannah Happ, Alex V. Levin, Patricia G. Wheeler, Karen L. David, Erin Carney, Brad Angle, Natalie Hauser, Elena V. Semina> ;Human Genetics. 2014 Sep 3
• 1 citations
  Response to Rosenberg et al.
  Catherine Rehder, Karen L. David, Betsy A. Hirsch, Helga V. Toriello, Carolyn M. Wilson, Hutton M. Kearney> ;Genetics in Medicine. 2013 Sep 1
• 122 citations
  American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing.
  Catherine Rehder, Karen L. David, Betsy A. Hirsch, Helga V. Toriello, Carolyn M. Wilson, Hutton M. Kearney> ;Genetics in Medicine. 2013 Jan 17
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