JulieDainaKaplanMD

PubMed

• 11 citations
  Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
  Katrine M Johannesen, Sumaiya Iqbal, Milena Guazzi, Nazanin A Mohammadi, Eduardo Pérez-Palma, Elise Schaefer, Anne De Saint Martin, Marie Therese Abiwarde, Amy McTague...> ;Genetics in Medicine. 2022 Mar 1
• Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
  Luisa Averdunk, Heinrich Sticht, Harald Surowy, Hermann-Josef Lüdecke, Margarete Koch-Hogrebe, Hessa S. Alsaif, Kimia Kahrizi, Hamad Al-Zaidan, Bashayer S Alawam, Moha...> ;Journal of Molecular Medicine. 2021 Oct 18
• 2 citations
  The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype
  Luisa Averdunk, Heinrich Sticht, Harald Surowy, Hermann-Josef Lüdecke, Margarete Koch-Hogrebe, Hessa S. Alsaif, Kimia Kahrizi, Hamad Al-Zaidan, Bashayer S Alawam, Moha...> ;Journal of Molecular Medicine. 2021 Sep 18
• 3 citations
  Expanding the KIF4A-associated phenotype.
  Silvia Kalantari, Colleen Carlston, Norah Alsaleh, Ghada M H Abdel-Salam, Fowzan S. Alkuraya, Mitsuhiro Kato, Naomichi Matsumoto, Satoko Miyatake, Tatsuya Yamamoto, Lu...> ;American Journal of Medical Genetics. Part A. 2021 Aug 3
• 3 citations
  Asynchronous telemedicine for clinical genetics consultations in the NICU: a single center's solution.
  Emily Boothe, Brayden West, Laura G. Hendon, Julie D. Kaplan, Brian Kirmse> ;Journal of Perinatology. 2021 Jul 23
• 34 citations
  Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
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• 17 citations
  Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies.
  Karen W. Gripp, Sarah F. Smithson, Ingrid Scurr, Julia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heathe...> ;European Journal of Human Genetics. 2021 Feb 16
• 17 citations
  Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.
  Daisy Rymen, Martijn Lindhout, Maria Spanou, Farah Ashrafzadeh, Ira Benkel, Cornelia Betzler, Christine Coubes, Hans Hartmann, Julie D. Kaplan, Diana Ballhausen, Johan...> ;Genetics in Medicine. 2020 Aug 21
• 17 citations
  Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome.
  Jennifer L. Cohen, Kelly A. Duffy, Brian J Sajorda, Evan R Hathaway, Christina X Gonzalez-Gandolfi, Jennifer Richards-Yutz, Andrew T. Gunter, Arupa Ganguly, Julie D. K...> ;American Journal of Medical Genetics. Part A. 2019 Jul 1
• The importance of prenatal 3-dimensional sonography in a case of a segmental overgrowth syndrome with unclear chromosomal microarray results.
  Mehmet Resit Asoglu, Amanda Higgs, Sertac Esin, Julie Kaplan, Sifa Turan> ;Journal of Clinical Ultrasound. 2018 Jun 1
• 11 citations
  Using Telemedicine in Mississippi to Improve Patient Access to Genetic Services.
  Emily Boothe, Julie D. Kaplan> ;Journal of Genetic Counseling. 2018 Apr 1
• 26 citations
  Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
  Ronit Marom, Mahim Jain, Lindsay C. Burrage, I-Wen Song, Brett H. Graham, Chester W. Brown, Servi J. C. Stevens, Alexander P.A. Stegmann, Andrew T. Gunter, Julie D. Ka...> ;Human Mutation. 2017 Oct 1
• 57 citations
  Noonan syndrome in diverse populations
  Paul Kruszka, Antonio R. Porras, Yonit A. Addissie, Angélica Moresco, Sofia Medrano, Gary T. K. Mok, Gordon K.C. Leung, Cedrik Tekendo-Ngongang, Annette Uwineza, Meow-...> ;American Journal of Medical Genetics. Part A. 2017 Jul 27
• 71 citations
  22q11.2 deletion syndrome in diverse populations.
  Paul Kruszka, Yonit A. Addissie, Daniel E. McGinn, Antonio R. Porras, Elijah Biggs, Matthew Share, T. Blaine Crowley, Brian H.Y. Chung, Gary T. K. Mok, Christopher C.Y...> ;American Journal of Medical Genetics. Part A. 2017 Apr 1
• 42 citations
  Gain-of-function mutations in SMAD4 cause a distinctive repertoire of cardiovascular phenotypes in patients with Myhre syndrome.
  Angela E. Lin, Caroline Michot, Valérie Cormier-Daire, Thomas J. L'Ecuyer, G. Paul Matherne, Barrett H. Barnes, Jennifer B. Humberson, Andrew C. Edmondson, Elaine H. Z...> ;American Journal of Medical Genetics. Part A. 2016 Jun 14
• 35 citations
  Clues to an early diagnosis of Kallmann syndrome.
  Julie Kaplan, Jonathan A. Bernstein, Andrea Kwan, Louanne Hudgins> ;American Journal of Medical Genetics. Part A. 2010 Nov 1
• 19 citations
  Systemic Hyalinosis: A Distinctive Early Childhood–Onset Disorder Characterized by Mutations in the Anthrax Toxin Receptor 2 Gene (ANTRX2)
  Joseph T. Shieh, P. Swidler, John A. Martignetti, Maria Celeste M. Ramirez, Imelda Balboni, J. Kaplan, J. Kennedy, Omar A. Abdul-Rahman, Gregory M. Enns, Christy Sandb...> ;Pediatrics. 2006 Nov 1
• 15 citations
  Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes : report of new cases and delineation of 4 probable types
  Alain Verloes, Hubert Journel, Catherine Elmer, Jean-Paul Misson, Martine Le Merrer, Josseline Kaplan, Lionel Van Maldergem, Hilde Deconinck, Françoise Meire> ;American Journal of Medical Genetics. 1993 Apr 15
• 25 citations
  CFC syndrome: a syndrome distinct from Noonan syndrome.
  A. Berloes, M. Le Merrer, D. Soyeur, Jean-Claude Kaplan, C. Pangalos, J. Rigo, Marie-Louise Briard> ;Annales De Genetique. 1988 Jan 1
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