Author details

Full Name

Kathryn McFadden

Affiliation

ORCID

Career Start Year

1997

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36447687	Homozygous UNC13A Variant in an Infant With Congenital Encephalopathy and Severe Neuromuscular Phenotype: A Case Report With Detailed Central Nervous System Neuropathologic Findings.		2022
33887199	Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases.	Neuron	2021
32234795	Chronic Thrombocytopenia as the Initial Manifestation of STIM1-Related Disorders.	Pediatrics	2020
31154346	Successful treatment of a <i>TSC2</i>-mutant glioblastoma with everolimus.	BMJ Case Rep	2019
29544532	BRAF activating mutations involving the Î²3-Î±C loop in V600E-negative anaplastic pleomorphic xanthoastrocytoma.	Acta Neuropathol Commun	2018
32832832	Clinically Integrated Sequencing Alters Therapy in Children and Young Adults With High-Risk Glial Brain Tumors.	JCO Precis Oncol	2018
30202790	Erratum: Author Correction: Identification and targeting of an FGFR fusion in a pediatric thalamic "central oligodendroglioma".	NPJ Precis Oncol	2018
29093006	Rapid Intraoperative Diagnosis of Pediatric Brain Tumors Using Stimulated Raman Histology.	Cancer Research	2018
29872711	Identification and targeting of an FGFR fusion in a pediatric thalamic "central oligodendroglioma".	NPJ Precis Oncol	2017
28955599	Rapid intraoperative histology of unprocessed surgical specimens via fibre-laser-based stimulated Raman scattering microscopy.	Nature Biomedical Engineering	2017
28860053	Blood-brain barrier-adapted precision medicine therapy for pediatric brain tumors.	Transl Res	2017
28968159	Pediatric Thalamic Gliomas: An Updated Review.		2017
26798351	Improving Stem and Progenitor Cell Therapeutics.		2016
25821034	Correlation of ultrasound appearance, gross anatomy, and histology of the femoral nerve at the femoral triangle.	Surgical and Radiologic Anatomy	2016
26810070	Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology.	Acta Neuropathol	2016
25569213	Pathology of the gallbladder in a child with metachromatic leukodystrophy.	Pediatric and Developmental Pathology	2015
24602502	DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics.	Mol Autism	2014
24949222	Intraosseous Angiolipoma of the Cranium: Case report and review of the literature.	Surg Neurol Int	2014
25019421	Neuropathology of 22q11 deletion syndrome in an infant.	Pediatr Dev Pathol	2014
23263211	Connective tissue and peripheral nerves.	Regional Anesthesia and Pain Medicine	2013
24155705	Evidence for dysregulation of axonal growth and guidance in the etiology of ASD.	Frontiers in Human Neuroscience	2013
22056761	Management of symptomatic intrathecal catheter-associated inflammatory masses.	Clinical Neurology and Neurosurgery	2012
22878523	Brachial plexus root injection in a human cadaver model: injectate distribution and effects on the neuraxis.	Regional Anesthesia and Pain Medicine	2012
21982423	Copy number variants for schizophrenia and related psychotic disorders in Oceanic Palau: risk and transmission in extended pedigrees.	Biol Psychiatry	2011
20814286	Subepineurial injection in ultrasound-guided interscalene needle tip placement.	Regional Anesthesia and Pain Medicine	2010
18976081	Primary intracranial dural-based synovial sarcoma with an unusual SYT fluorescence in situ hybridization pattern.	Journal of Neurosurgery	2008
16517379	Safety assessment of intradiscal gene transfer: a pilot study.	Spine J	2006
15794684	Pathologic quiz case: a 33-year-old woman with a large temporal mass. Chondroblastoma of the skull.		2005
15977647	Neuronal intranuclear inclusion disease without polyglutamine inclusions in a child.	Journal of Neuropathology and Experimental Neurology	2005
10051661	Ectopic bone morphogenetic proteins 5 and 4 in the chicken forebrain lead to cyclopia and holoprosencephaly.	Proc Natl Acad Sci U S A	1999
9342045	Cell migration in the developing chick diencephalon.	Development	1997