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Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet 26, 1121-1131 (2018).
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively. Genet Med 20, 411-419 (2018).
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC Med Genet 19, 122 (2018).
A novel pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. Cold Spring Harb Mol Case Stud 4, (2018).
Disruptions in asymmetric centrosome inheritance and WDR62-Aurora kinase B interactions in primary microcephaly. Sci Rep 7, 43708 (2017).
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med 19, 13-19 (2017).
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol 73, 836-845 (2016).
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. Am J Hum Genet 98, 1249-1255 (2016).
CRB1-Related Maculopathy With Cystoid Macular Edema. JAMA Ophthalmol 133, 1357-60 (2015).
Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia. Fertil Steril 104, 286-91 (2015).