SimonaBianconiMD

PubMed

• De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
  Samin A Sajan, Ralph Gradisch, Florian D Vogel, Alison J Coffey, Daria Salyakina, Diana Soler, Parul Jayakar, Anuj Jayakar, Simona E Bianconi, Annina H Cooper, Shuxi L...> ;European Journal of Human Genetics. 2024 Apr 2
• ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.
  Jennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, Vimla Aggarwal, Simona Bianconi, Raquel Fernandez, Kim Hart, Nicola Longo, Nicole Liang, Daniel Reich, Heidi ...> ;Molecular Genetics and Metabolism. 2024 Mar 2
• Sterol biosynthesis regulates TLR signaling and the innate immune response in a Smith-Lemli-Opitz syndrome model.
  Kristin Gabor, Emily V Mesev, Jennifer Madenspacher, Julie Meacham, Prashant Rai, Sookjin Moon, Christopher A Wassif, Saame Raza Shaikh, C J Tucker, Peer Karmaus, Simo...> ;The Journal of Clinical Investigation. 2024 Jan 18
• 1 citations
  Corrigendum to "Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency".
  Farmer, C., Thurm, A., Wassif, C., Cawley, N., Perreault, J., Dang Do, A., Guthrie, W., Cubit, L., Miller, J., Sutton, V., Rahhal, S., Bianconi, S., Hannah-Shmouni, F....> ;Molecular Genetics and Metabolism Reports. 2023 Dec 1
• 1 citations
  Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency.
  Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A Wassif, Niamh X Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, La...> ;Molecular Genetics and Metabolism Reports. 2023 Dec 1
• Characterization of seizures and EEG findings in creatine transporter deficiency due to SLC6A8 mutation.
  Myriam Abdennadher, Sara K Inati, Samar Rahhal, Omar Khan, Luca Bartolini, Audrey Thurm, William Theodore, Judith S Miller, Forbes D Porter, Simona Bianconi> ;American Journal of Medical Genetics. Part A. 2024 Feb 1
• 6 citations
  Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1.
  Neena Agrawal, Nicole Y Farhat, Ninet Sinaii, An Dang Do, Changrui Xiao, Elizabeth Berry-Kravis, Simona Bianconi, Ruturaj Masvekar, Bibiana Bielekova, Beth Solomon, Fo...> ;Genetics in Medicine. 2023 Mar 1
• 2 citations
  Phenotypic expression of swallowing function in Niemann-Pick disease type C1.
  Beth I Solomon, Andrea M Muñoz, Ninet Sinaii, Nicole M Farhat, Andrew C Smith, Simona Bianconi, An Dang Do, Michael C Backman, Leonza Machielse, Forbes D Porter> ;Orphanet Journal of Rare Diseases. 2022 Sep 5
• 8 citations
  Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1.
  Jorge L. Rodriguez-Gil, Simona Bianconi, Nicole Y. Farhat, David E. Kleiner, Marie V. Nelson, Forbes D. Porter> ;American Journal of Medical Genetics. Part A. 2021 Jun 17
• 8 citations
  X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease model
  Mark D. Levin, Simona Bianconi, Andrew Smith, Niamh X. Cawley, An Dang Do, Dylan Hammond, Julia F Grafstein, Audrey Thurm, Judith Miller, John Perreault, Audrey Noguch...> ;Genetics in Medicine. 2021 May 28
• 1 citations
  Auditory phenotype of Smith-Lemli-Opitz syndrome.
  Christopher K. Zalewski, Sarah Sydlowski, Kelly A. King, Simona Bianconi, An Dang Do, Forbes D. Porter, Carmen C. Brewer> ;American Journal of Medical Genetics. Part A. 2021 Feb 2
• 3 citations
  Oxidative phosphorylation in creatine transporter deficiency.
  Shizhe Li, Simona Bianconi, Jan Willem van der Veen, An Dang Do, JoEllyn Stolinski, Kim M. Cecil, Fady Hannah-Shmouni, Forbes D. Porter, Jun Shen> ;NMR in Biomedicine. 2021 Jan 1
• 1 citations
  Low Incidence of Postdural Puncture Headache Further Reduced With Atraumatic Spinal Needle: A Retrospective Cohort Study.
  Nicole Y. Farhat, Cristan Farmer, An Dang Do, Simona Bianconi, Forbes D. Porter> ;Pediatric Neurology. 2021 Jan 1
• 12 citations
  Neurofilament light chain levels correlate with clinical measures in CLN3 disease
  An N Dang Do, Ninet Sinaii, Ruturaj R. Masvekar, Eva H. Baker, Audrey Thurm, Ariane Soldatos, Simona Bianconi, Bibiana Bielekova, Forbes D. Porter> ;Genetics in Medicine. 2021 Apr 1
• 25 citations
  Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders.
  Cristan Farmer, Aaron J. Kaat, Audrey Thurm, Irina Anselm, Natacha Akshoomoff, Amanda Bennett, Leandra N. Berry, Aleksandra Bruchey, Bruce A. Barshop, Elizabeth Berry-...> ;American Journal on Intellectual and Developmental Disabilities. 2020 Nov 1
• 4 citations
  Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.
  Audrey Thurm, Colby Chlebowski, Lisa Joseph, Cristan Farmer, Dee Adedipe, Madison Weiss, Edythe Wiggs, Nicole Y. Farhat, Simona Bianconi, Elizabeth Berry-Kravis, Forbe...> ;Journal of Developmental and Behavioral Pediatrics. 2020 Jun 1
• 6 citations
  Statins for Smith-Lemli-Opitz syndrome.
  Rami A. Ballout, Simona Bianconi, Alicia A. Livinski, Yi-Ping Fu, Alan T. Remaley, Forbes D. Porter> ;The Cochrane Database of Systematic Reviews. 2020 Jan 1
• 20 citations
  Long-Term Neuropsychological Outcomes from an Open-Label Phase I/IIa Trial of 2-Hydroxypropyl-β-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1
  Cristan Farmer, Audrey Thurm, Nicole Y. Farhat, Simona Bianconi, Lee Ann Keener, Forbes D. Porter> ;CNS Drugs. 2019 Jul 1
• 21 citations
  Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history.
  Simona Bianconi, Dylan Hammond, Nicole Y. Farhat, An Dang Do, Kisha Jenkins, Antony Cougnoux, Kyle Martin, Forbes D. Porter> ;Molecular Genetics and Metabolism. 2019 Apr 1
• 7 citations
  Early Indicators of Creatine Transporter Deficiency
  Judith Miller, Rebecca P. Thomas, Amanda Bennett, Simona Bianconi, Aleksandra Bruchey, Robert J. Davis, Can Ficicioglu, Whitney Guthrie, Forbes D. Porter, Audrey Thurm> ;The Journal of Pediatrics. 2019 Mar 1
• 3 citations
  Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome
  An N Dang Do, Eva H. Baker, Katherine E. Warren, Simona Bianconi, Forbes D. Porter> ;American Journal of Medical Genetics. Part A. 2018 Feb 1
• 206 citations
  Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial
  Daniel S. Ory, Elizabeth A. Ottinger, Nicole Y. Farhat, Kelly A. King, Xuntian Jiang, Lisa Weissfeld, Elizabeth Berry-Kravis, Cristin Davidson, Simona Bianconi, Lee An...> ;Lancet. 2017 Oct 14
• 7 citations
  Vitamin D levels in Smith-Lemli-Opitz syndrome.
  Miyad Movassaghi, Simona Bianconi, Richard Feinn, Christopher A. Wassif, Forbes D. Porter> ;American Journal of Medical Genetics. Part A. 2017 Aug 10
• 22 citations
  A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
  Christopher A. Wassif, Lisa E. Kratz, Susan Sparks, Courtney Wheeler, Simona Bianconi, Andrea L. Gropman, Karim A. Calis, Richard I. Kelley, Elaine Tierney, Forbes D. ...> ;Genetics in Medicine. 2017 Mar 1
• 1 citations
  Altered cerebrospinal fluid proteins in Smith–Lemli–Opitz syndrome patients
  Stephanie M. Cologna, Christine Shieh, Cynthia L. Toth, Antony Cougnoux, Kathryn R. Burkert, Simona Bianconi, Christopher A. Wassif, Forbes D. Porter> ;American Journal of Medical Genetics. Part A. 2016 Aug 1
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