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Annals of Clinical and Translational Neurology|May 20, 2014
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantineTyler Mark Pierson, Hongjie Yuan, Eric D Marsh, et al.Cilia|March 28, 2017
Abnormal glycosylation in Joubert syndrome type 10Megan S Kane, Mariska Davids, Michelle R Bond, et al.Journal of Neuropathology and Experimental Neurology|June 4, 2008
Neurologic phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1Kimiko Deguchi, Johanna M Clewing, Leah I Elizondo, et al.Neuromuscular Disorders : NMD|March 5, 2013
Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Tyler Mark Pierson, Thomas Markello, John Accardi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 13, 2012
The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseasesWilliam A Gahl, Thomas C Markello, Camilo Toro, et al.Frontiers in Medicine|October 28, 2016
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program ExperienceAmanda E Links, David Draper, Elizabeth Lee, et al.Nature Genetics|July 19, 2011
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granulesMeral Gunay-Aygun, Tzipora C Falik-Zaccai, Thierry Vilboux, et al.Orphanet Journal of Rare Diseases|May 16, 2016
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityValerie Maduro, Barbara N Pusey, Praveen F Cherukuri, et al.NPJ Genomic Medicine|February 10, 2023
Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairmentMarie Morimoto, Vikas Bhambhani, Nour Gazzaz, et al.American Journal of Medical Genetics. Part A|May 11, 2005
Association of migraine-like headaches with Schimke immuno-osseous dysplasiaSara Sebnem Kilic, Osman Donmez, Emily A Sloan, et al.Pageof 14