MiriamDBloomMD

PubMed

• Care Models and Discharge Services for Children With Medical Complexity.
  Hall, M., Oumarbaeva-Malone, Y., Jurgens, V., Rush, M., Bloom, M., Adusei-Baah, C., Shah, N., Bhansali, P., Parikh, K.> ;Hospital Pediatrics. 2024 Feb 1
• Length of Stay and Barriers to Discharge for Technology-Dependent Children During the COVID-19 Pandemic.
  Margaret Rush, Amina Khan, John Barber, Miriam Bloom, Melanie Anspacher, Karen Fratantoni, Kavita Parikh> ;Hospital Pediatrics. 2023 Jan 1
• Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome.
  Francesco Gavazzi, Jamie L. Fraser, Miriam Bloom, Laura Tochen, Jullie Rhee, Megan Kwan, Teresa Victoria, David T. Teachey, Cheng-Ying Ho, Adeline Vanderver, Rebecca L...> ;Pediatric Blood & Cancer. 2022 Jan 1
• 10 citations
  Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
  Alex Conant, Julian Curiel, Amy Pizzino, Parisa Sabetrasekh, Jennifer L. Murphy, Miriam Bloom, Sarah H. Evans, Guy Helman, Ryan J. Taft, Cas Simons, Matthew T. Whitehe...> ;Journal of Child Neurology. 2018 Jun 8
• 12 citations
  Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy
  Amy Pizzino, Matthew T. Whitehead, Parisa Sabet Rasekh, Jennifer L. Murphy, Guy Helman, Miriam Bloom, Sarah H. Evans, John G. Murnick, Joan A. Conry, Ryan J. Taft, Cas...> ;American Journal of Medical Genetics. Part A. 2018 Apr 25
• 35 citations
  Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies
  Laura Adang, Omar Sherbini, Laura Ball, Miriam Bloom, Anil Darbari, Hernan Amartino, Donna DiVito, Florian Eichler, Maria L. Escolar, Sarah H. Evans, Ali Fatemi, Jamie...> ;Molecular Genetics and Metabolism. 2017 Sep 1
• 8 citations
  RMND1-Related Leukoencephalopathy With Temporal Lobe Cysts and Hearing Loss—Another Mendelian Mimicker of Congenital Cytomegalovirus Infection
  Nicole Ulrick, Amy Goldstein, Cas Simons, Ryan J. Taft, Guy Helman, Amy Pizzino, Miriam Bloom, Julie Vogt, Karen Pysden, Daria Diodato, Diego Martinelli, Ahmad Monavar...> ;Pediatric Neurology. 2017 Jan 1
• Corrigendum to "GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease" [Mol. Genet. Metab. 111 (2014) 393-398].
  Leo Gotoh, Ken Inoue, Guy Helman, Sara Mora, Kiran Maski, Janet S. Soul, Miriam Bloom, Sarah H. Evans, Yu-ichi Goto, Ljubica Caldovic, Grace M. Hobson, Adeline Vanderver> ;Molecular Genetics and Metabolism. 2016 Nov 1
• 111 citations
  Whole exome sequencing in patients with white matter abnormalities.
  Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I. Wolf, Geneviève Bernard, Amy Pizzino, Johanna L. Schmidt, Asako Takanohashi, David M. Miller, Ami...> ;Annals of Neurology. 2016 Jun 1
• 77 citations
  Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
  Cas Simons, Laurie B. Griffin, Guy Helman, Gretchen Golas, Amy Pizzino, Miriam Bloom, Jennifer L. Murphy, Joanna Crawford, Sarah H. Evans, Scott Topper, Matthew T. Whi...> ;American Journal of Human Genetics. 2015 Apr 2
• 386 citations
  Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
  Yanick J. Crow, Diana Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella Forte, Hannah Gornall, Anthony Oojageer, Beverley Anderson, Amy Pizzino, Guy Hel...> ;American Journal of Medical Genetics. Part A. 2015 Feb 1
• 13 citations
  Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.
  Jessica E. King, Amy Dexter, Inder K. Gadi, Val V. Zvereff, Meaghan Martin, Miriam Bloom, Adeline Vanderver, Amy Pizzino, Johanna L. Schmidt> ;Journal of Genetic Counseling. 2014 Apr 30
• 14 citations
  GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease
  Leo Gotoh, Ken Inoue, Guy Helman, Sara Mora, Kiran Maski, Janet S. Soul, Miriam Bloom, Sarah H. Evans, Yu-ichi Goto, Ljubica Caldovic, Grace M. Hobson, Adeline Vanderver> ;Molecular Genetics and Metabolism. 2014 Mar 1
• 47 citations
  Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
  Adeline Vanderver, Cas Simons, Johanna L. Schmidt, Phillip L. Pearl, Miriam Bloom, Bennett Lavenstein, David Miller, Sean M. Grimmond, Ryan J. Taft> ;Pediatric Neurology. 2014 Jan 1
• 13 citations
  Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome
  Asako Takanohashi, Morgan Prust, Jichuan Wang, Heather Gordish-Dressman, Miriam Bloom, Gillian I. Rice, Johanna L. Schmidt, Yanick J. Crow, Pierre Lebon, Taco W. Kuijp...> ;Neurology. 2013 Mar 12
• 16 citations
  Intravenous Theophylline in Pediatric Status Asthmaticus A Prospective, Randomized, Double-Blind, Placebo-Controlled Trial
  James P. Bien, Miriam D. Bloom, Robert L. Evans, Bonny Specker, Kevin P. O'Brien> ;Clinical Pediatrics. 1995 Sep 1
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