Publications by authors named "Miriam Bloom"

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Association of Care Models and Hospital Reutilization for Children With High-Intensity Neurologic Impairment.
Margarita Ramos, Margaret Rush, Yuliya Oumarbaeva-Malone, Valerie Jurgens, Bridget Allard, Miriam Bloom

Hosp Pediatr· July 2025

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Care Models and Discharge Services for Children With Medical Complexity.
Yuliya Oumarbaeva-Malone, Valerie Jurgens, Margaret Rush, Miriam Bloom, Charity Adusei-Baah

Hosp Pediatr· February 2024

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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

Hosp Pediatr· January 2023

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Hodgkin lymphoma in an individual with TREX1-mediated Aicardi Goutières syndrome.
Francesco Gavazzi, Jamie L Fraser, Miriam Bloom, Laura Tochen, Jullie Rhee

Pediatr Blood Cancer· January 2022

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Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis.
Alexander Conant, Julian Curiel, Amy Pizzino, Parisa Sabetrasekh, Jennifer Murphy, Miriam Bloom

J Child Neurol· September 2018

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Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy.
Amy Pizzino, Matthew Whitehead, Parisa Sabet Rasekh, Jennifer Murphy, Guy Helman, Miriam Bloom

Am J Med Genet A· June 2018

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Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies.
Laura A Adang, Omar Sherbini, Laura Ball, Miriam Bloom, Anil Darbari

Mol Genet Metab· September 2017

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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, Miriam Bloom

Pediatr Neurol· January 2017

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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, Miriam Bloom

Mol Genet Metab· November 2016

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Whole exome sequencing in patients with white matter abnormalities.
Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I Wolf, Miriam Bloom

Ann Neurol· June 2016

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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

Am J Hum Genet· April 2015

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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Yanick J Crow, Diana S Chase, Johanna Lowenstein Schmidt, Marcin Szynkiewicz, Gabriella M A Forte, Miriam Bloom

Am J Med Genet A· February 2015

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Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.
Jessica E King, Amy Dexter, Inder Gadi, Val Zvereff, Meaghan Martin, Miriam Bloom

J Genet Couns· October 2014

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GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
Leo Gotoh, Ken Inoue, Guy Helman, Sara Mora, Kiran Maski, Miriam Bloom

Mol Genet Metab· March 2014

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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, Philip L Pearl, Miriam Bloom

Pediatr Neurol· January 2014

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Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome.
Asako Takanohashi, Morgan Prust, Jichuan Wang, Heather Gordish-Dressman, Miriam Bloom

Neurology· March 2013

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Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.
Beamon Agarwal, Atif Ahmed, Elisabeth J Rushing, Miriam Bloom, Nadja Kadom

Hum Pathol· November 2007

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