Publications by authors named "Derek Neilson"

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A clinical and genotype-phenotype analysis of MACF1 variants.
Jordy Dekker, Rachel Schot, Kimberly A Aldinger, David B Everman, Camerun Washington, Derek E Neilson

Am J Hum Genet· October 2025

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Clinical utility of runs of homozygosity in the identification of genetic causes in individuals with rare diseases.
Theru A Sivakumaran, Bilal Azab, Emily Hershman, Ananditha Sivakumaran, Neil R Friedman, Derek Neilson

Genet Med Open· October 2025

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Influenza-Associated Acute Necrotizing Encephalopathy in US Children.

JAMA· August 2025

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Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the Gene.
Wayne M Jepsen, Andrew Fazenbaker, Keri Ramsey, Anna Bonfitto, Marcus Naymik, Derek E Neilson

Int J Mol Sci· November 2024

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Losartan Treatment Reduces Esophageal Eosinophilic Inflammation in a Subset of Eosinophilic Esophagitis.
J Pablo Abonia, Amanda K Rudman Spergel, Ikuo Hirano, Tetsuo Shoda, Xue Zhang, Derek Neilson

J Allergy Clin Immunol Pract· September 2024

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FDXR variants cause adrenal insufficiency and atypical sexual development.
Emanuele Pignatti, Jesse Slone, María Ángeles Gómez Cano, Teresa Margaret Campbell, Jimmy Vu, Derek E Neilson

JCI Insight· June 2024

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TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Hashem Almousa, Sara A Lewis, Somayeh Bakhtiari, Sandra Hinz Nordlie, Alex Pagnozzi, Derek E Neilson

Brain· January 2024

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Clinical study of ferredoxin-reductase-related mitochondriopathy: Genotype-phenotype correlation and proposal of ancestry-based carrier screening in the Mexican population.
Teresa Campbell, Jesse Slone, Hallie Metzger, Wensheng Liu, Stephanie Sacharow, Derek Neilson

Genet Med Open· November 2023

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ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.
Kari A Mattison, Gilles Tossing, Fred Mulroe, Callum Simmons, Kameryn M Butler, Derek E Neilson

Brain· April 2023

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Systematic studies in acute necrotizing encephalopathy of childhood: The way forward.
Derek E Neilson

Dev Med Child Neurol· August 2022

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Healthcare utilization among youth with Ehlers-Danlos syndrome hypermobile type.
Sara E Williams, Susan T Tran, Anne Lynch-Jordan, Kenneth R Goldschneider, Tracy V Ting, Derek Neilson

Am J Med Genet A· April 2022

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A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Derek E Neilson, Michael Zech, Robert B Hufnagel, Jesse Slone, Xinjian Wang

Mov Disord· February 2022

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Treatment Timing, EEG, Neuroimaging, and Outcomes After Acute Necrotizing Encephalopathy in Children.
Brian Appavu, Stephen Foldes, Jordana Fox, Sheetal Shetty, Ann Oh, Derek Neilson

J Child Neurol· June 2021

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Fetal brain small vessel disease 1 caused by a novel mutation in the COL4A1 gene.
Elizabeth C England, Patricia Cornejo, Derek E Neilson, Rashmi P Rao, Luis F Goncalves

Pediatr Radiol· March 2021

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Central Diabetes Insipidus in a Patient With NFKB2 Mutation: Expanding the Endocrine Phenotype in DAVID Syndrome.
Nat Nasomyont, Andrew W Lindsley, Amal Assa'ad, D Brian Dawson, Derek E Neilson

J Clin Endocrinol Metab· September 2019

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Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results.
Margret Matias, Katie Wusik, Derek Neilson, Xue Zhang, C Alexander Valencia

J Genet Couns· April 2019

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Linkage of Metabolic Defects to Activated PIK3CA Alleles in Endothelial Cells Derived from Lymphatic Malformation.
Kathryn Glaser, Peter Dickie, Derek Neilson, Alexander Osborn, Belinda Hsi Dickie

Lymphat Res Biol· February 2018

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Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort.
Alyssa Ritter, Carrie Atzinger, Brandon Hays, Jeanne James, Amy Shikany, Derek Neilson

Am J Med Genet A· June 2017

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Variable clinical course in acute necrotizing encephalopathy and identification of a novel RANBP2 mutation.
Katharina Sell, Katja Storch, Gabriele Hahn, Min Ae Lee-Kirsch, Georgia Ramantani, Derek Neilson

Brain Dev· September 2016

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The Clinical Utility of a Single-Nucleotide Polymorphism Microarray in Patients With Epilepsy at a Tertiary Medical Center.
Sarah A Hrabik, Shannon M Standridge, Hansel M Greiner, Derek E Neilson, Valentina V Pilipenko

J Child Neurol· November 2015

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Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
C Alexander Valencia, Ammar Husami, Jennifer Holle, Judith A Johnson, Yaping Qian, Derek Neilson

Front Pediatr· August 2015

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H1N1 triggered recurrent acute necrotizing encephalopathy in a family with a T653I mutation in the RANBP2 gene.
Geetha Anand, Ravindran Visagan, Saleel Chandratre, Shelley Segal, Andrea H Nemeth, Derek Neilson

Pediatr Infect Dis J· March 2015

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Activating PIK3CA alleles and lymphangiogenic phenotype of lymphatic endothelial cells isolated from lymphatic malformations.
Alexander J Osborn, Peter Dickie, Derek E Neilson, Kathryn Glaser, Kaari A Lynch

Hum Mol Genet· February 2015

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Joint hypermobility and headache: understanding the glue that binds the two together--part 1.
Derek Neilson, Vincent T Martin

Headache· September 2014

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