Publications by authors named "Bryce Heese"

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Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Tricia N Zion, Courtney D Berrios, Ana S A Cohen, Lauren Bartik, Laura A Cross, Bryce A Heese

Genet Med· May 2023

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Tandem Mass Spectrometry for the Analysis of Plasma/Serum Acylcarnitines for the Diagnosis of Certain Organic Acidurias and Fatty Acid Oxidation Disorders.
David Scott, C Clinton Frazee, Bryce Heese, Uttam Garg

Methods Mol Biol· September 2022

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Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Ana S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, Joseph T Alaimo, Shivarajan M Amudhavalli, Bryce A Heese

Genet Med· June 2022

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Delayed diagnosis of holocarboxylase synthetase deficiency in three patients with prominent skin findings.
Maxime Cadieux-Dion, Jennifer Gannon, Brandon Newell, Amy Jo Nopper, Janda Jenkins, Bryce Heese

Pediatr Dermatol· May 2021

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Pathogenic variants in gene identified by clinical whole-genome sequencing.
Isabelle Thiffault, Andrea Atherton, Bryce A Heese, Ahmed T Abdelmoity, Kailash Pawar

Cold Spring Harb Mol Case Stud· June 2020

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Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.
Austin A Larson, Shanti Balasubramaniam, John Christodoulou, Lindsay C Burrage, Ronit Marom, Bryce Heese

Mitochondrion· January 2019

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Early childhood onset of high-grade atrioventricular block in Hunter syndrome.
Meghan M Chlebowski, Bryce A Heese, Lindsey E Malloy-Walton

Cardiol Young· May 2018

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Quantification of Free Carnitine and Acylcarnitines in Plasma or Serum Using HPLC/MS/MS.
David Scott, Bryce Heese, Uttam Garg

Methods Mol Biol· September 2016

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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, Bryce A Heese

Sci Transl Med· December 2014

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Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
Jill A Rosenfeld, Dina Amrom, Eva Andermann, Frederick Andermann, Martin Veilleux, Bryce Heese

Neurogenetics· February 2012

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Current strategies in the management of lysosomal storage diseases.
Bryce A Heese

Semin Pediatr Neurol· September 2008

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Expanded newborn screening identifies maternal primary carnitine deficiency.
Lisa A Schimmenti, Eric A Crombez, Bernd C Schwahn, Bryce A Heese, Timothy C Wood

Mol Genet Metab· April 2007

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A boy with fever and whorl keratopathy.
Christine Halligan, Bryce A Heese, Grant Mellor, Virginia V Michels, Ann Reed

J Rheumatol· June 2006

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