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Neurosurgery|May 20, 2022
Risk Factors and Neurological Outcomes Associated With Circulatory Shock After Moderate-Severe Traumatic Brain Injury: A TRACK-TBI StudyCamilo Toro, Jordan Hatfield, Nancy Temkin, et al.
Neurology|February 15, 2017
Neurologic involvement in patients with atypical Chediak-Higashi diseaseWendy J Introne, Wendy Westbroek, Catherine A Groden, et al.
Molecular Genetics and Metabolism|October 26, 2023
Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases programEllen F Macnamara, Amelia Loydpierson, Yvonne L Latour, et al.
Neurology(R) Neuroimmunology & Neuroinflammation|December 28, 2018
Anti-HMGCR myopathy may resemble limb-girdle muscular dystrophyPayam Mohassel, Océane Landon-Cardinal, A Reghan Foley, et al.
Journal of Medical Genetics|September 20, 2015
Mutations in human homologue of chicken talpid3 gene (KIAA0586) cause a hybrid ciliopathy with overlapping features of Jeune and Joubert syndromesMay Christine V Malicdan, Thierry Vilboux, Joshi Stephen, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|July 23, 2025
Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease ProgramDee Adedipe, Audrey Thurm, Lisa Joseph, et al.
Human Molecular Genetics|August 1, 2022
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variationSarah Fazal, Matt C Danzi, André B P van Kuilenburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 26, 2025
A genome-wide approach for the discovery of novel repeat expansion disorders in the Undiagnosed Diseases Network cohortSarah Fazal, Harriet Dashnow, Maike F Dohrn, et al.
Updates in Surgery|September 24, 2025
Optimal timing for cholecystectomy following percutaneous cholecystostomy: insights from a multicenter retrospective cohort studyAntonio Pesce, Camilo Ramírez-Giraldo, Matteo Matteucci, et al.
Annals of Clinical and Translational Neurology|May 20, 2014
<i>GRIN2A</i> mutation and early-onset epileptic encephalopathy: personalized therapy with memantineTyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.
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