BrittonDanielleZuccarelliMD

PubMed

• Genomic Answers for Kids: Toward more equitable access to genomic testing for rare diseases in rural populations.
  Ana S A Cohen, Courtney D Berrios, Tricia N Zion, Cassandra M Barrett, Riley Moore, Emelia Boillat, Bradley Belden, Emily G Farrow, Isabelle Thiffault, Tomi Pastinen, ...> ;American Journal of Human Genetics. 2024 Apr 10
• 28 citations
  Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
  Hwang, S. T., Esplin, E. D., Dianalee McKnight, Ana Morales, Kathryn E Hatchell, Sara L Bristow, Joshua L Bonkowsky, Michael Scott Perry, Anne T Berg, Felippe Borlot, ...> ;JAMA Neurology. 2022 Dec 1
• 17 citations
  Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
  Caroline F. Wright, Nicholas M Quaife, Laura Ramos-Hernández, Petr Danecek, Matteo P. Ferla, Kaitlin E. Samocha, Joanna Kaplanis, Eugene J. Gardner, Ruth Y. Eberhardt,...> ;American Journal of Human Genetics. 2021 Jun 3
• 23 citations
  Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
  Joery den Hoed, Elke de Boer, Norine Voisin, Alexander J. M. Dingemans, Nicolas Guex, Laurens Wiel, Christoffer Nellåker, Shivarajan M. Amudhavalli, Siddharth Banka, F...> ;American Journal of Human Genetics. 2021 Feb 4
• 21 citations
  An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
  Ana Pop, Monique Williams, Eduard A. Struys, Magnus Monné, Erwin E.W. Jansen, Anna De Grassi, Warsha A. Kanhai, Pasquale Scarcia, Matilde R. Fernandez Ojeda, Vito Porc...> ;Journal of Inherited Metabolic Disease. 2018 Mar 1
• 14 citations
  Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease.
  Isabelle Thiffault, Britton Zuccarelli, Holly I Welsh, Xuan Yuan, Emily G. Farrow, Lee Zellmer, Neil A. Miller, Sarah E Soden, Ahmed Abdelmoity, Robert A. Brodsky, Car...> ;BMC Medical Genetics. 2017 Nov 2
• 1 citations
  Reducing after-hours prescription refill requests
  Britton Zuccarelli, Keith A. Coffman> ;Neurology. Clinical Practice. 2016 Oct 1
• 3 citations
  Hemiballismus as a complication of an intratumoral chemotherapy catheter.
  Britton Zuccarelli, Paul Grabb> ;Journal of Clinical Neuroscience. 2016 Aug 1
• Utility of Obtaining a Serum Basic Metabolic Panel in the Setting of a First-Time Nonfebrile Seizure.
  Britton Zuccarelli, Ara Hall> ;Clinical Pediatrics. 2016 Jan 24
• 1 citations
  Visual DiagnosisExaggerated Startle
  Britton D. Zuccarelli, Arezou Heshmati> ;Pediatric Neurology. 2016 Jan 1
• 410 citations
  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders
  Sarah E Soden, Carol J Saunders, Laurel K. Willig, Emily G. Farrow, Laurie D. Smith, Josh E Petrikin, Jean Baptiste LePichon, Neil A. Miller, Isabelle Thiffault, Darre...> ;Science Translational Medicine. 2014 Dec 3
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