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Rare (Amsterdam, Netherlands)|November 28, 2025
Leukoencephalopathy, brain calcifications, and cysts (LCC): Two unique casesJulia Grafstein, Yuka Aoyama, Rena Godfrey, et al.
American Journal of Preventive Cardiology|June 30, 2025
Association of life's essential 8 score with incidence of atrial fibrillation: The Framingham heart studyCamilo Toro, Ayelet Shapira Daniels, Brenton Prescott, et al.
Drug Discovery Today. Disease Models|January 11, 2021
Chediak-Higashi syndrome: a review of the past, present, and futurePrashant Sharma, Elena-Raluca Nicoli, Jenny Serra-Vinardell, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|March 20, 2023
TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case SeriesAriane Soldatos, Camilo Toro, Patrycja Hoffmann, et al.
Developmental Medicine and Child Neurology|August 2, 2017
Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?Leah Svingen, Mitchell Goheen, Rena Godfrey, et al.
Medrxiv : the Preprint Server for Health Sciences|September 19, 2025
Diffusion tensor imaging in Chediak Higashi DiseaseConnor J Lewis, Selby I Chipman, Cynthia J Tifft, et al.
Seminars in Pediatric Neurology|December 2, 2024
Chedíak-Higashi Syndrome: Hair-to-toe spectrumSunny Greene, Ariane Soldatos, Camilo Toro, et al.
American Journal of Medical Genetics. Part A|December 21, 2022
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndromeRyan H Peretz, Wadih M Zein, Robert B Hufnagel, et al.
Orphanet Journal of Rare Diseases|May 8, 2019
The neuropsychological phenotype of Chediak-Higashi diseaseTalia N Shirazi, Joseph Snow, Lillian Ham, et al.
Human Mutation|February 1, 2012
VAR-MD: a tool to analyze whole exome-genome variants in small human pedigrees with mendelian inheritanceMurat Sincan, Dimitre R Simeonov, David Adams, et al.
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