|
| 36798371 | Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A. | bioRxiv | 2023 |
| 37598468 | NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease. | J Neurol Sci | 2023 |
| 37560121 | Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A. | Neurol Genet | 2023 |
| 37115208 | Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation. | Acta Neuropathol | 2023 |
| 37194416 | Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome. | Ann Clin Transl Neurol | 2023 |
| 36909570 | A data-fusion approach to identifying developmental dyslexia from multi-omics datasets. | bioRxiv | 2023 |
| 33893476 | Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression. | Arch Clin Neuropsychol | 2022 |
| 35779466 | Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations. | Parkinsonism Relat Disord | 2022 |
| 36166510 | Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition. | Sci Signal | 2022 |
| 34061398 | Novel TREM2 splicing isoform that lacks the V-set immunoglobulin domain is abundant in the human brain. | J Leukoc Biol | 2021 |
| 32211513 | Heterozygous <i>STUB1</i> missense variants cause ataxia, cognitive decline, and STUB1 mislocalization. | Neurol Genet | 2020 |
| 33101276 | Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain. | Front Immunol | 2020 |
| 32600828 | Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants. | Neuromuscul Disord | 2020 |
| 30664616 | Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene. | Transl Psychiatry | 2019 |
| 31970214 | Hyperphosphorylated Tau, Increased Adenylate Cyclase 5 (ADCY5) Immunoreactivity, but No Neuronal Loss in ADCY5-Dyskinesia. | Mov Disord Clin Pract | 2019 |
| 31538084 | ADCY5-Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder. | Mov Disord Clin Pract | 2019 |
| 30772269 | Functional characterization of AC5 gain-of-function variants: Impact on the molecular basis of ADCY5-related dyskinesia. | Biochem Pharmacol | 2019 |
| 27956748 | Association of rare missense variants in the second intracellular loop of Na<sub>V</sub>1.7 sodium channels with familial autism. | Mol Psychiatry | 2018 |
| 30276537 | Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder. | Hum Genet | 2018 |
| 29236290 | An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features. | Muscle Nerve | 2018 |
| 27933653 | ADCY5-related dyskinesia: Comments on characteristic manifestations and variant-associated severity. | Mov Disord | 2017 |
| 30854516 | Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study. | Biomark Genes | 2017 |
| 29576874 | Self-government of complex reading and writing brains informed by cingulo-opercular network for adaptive control and working memory components for language learning. | J Syst Integr Neurosci | 2017 |
| 29127204 | Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects. | J Exp Med | 2017 |
| 28985224 | Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants. | PLoS One | 2017 |
| 28821686 | Effect of simvastatin on CSF Alzheimer disease biomarkers in cognitively normal adults. | Neurology | 2017 |
| 26855554 | Evidence-Based Reading and Writing Assessment for Dyslexia in Adolescents and Young Adults. | Learn Disabil (Pittsbg) | 2016 |
| 26365416 | Genome-wide linkage analyses of non-Hispanic white families identify novel loci for familial late-onset Alzheimer's disease. | Alzheimers Dement | 2016 |
| 27819239 | Biochemical and imaging surveillance in Li-Fraumeni syndrome. | Lancet Oncol | 2016 |
| 27120335 | Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech. | PLoS One | 2016 |
| 27259050 | Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L. | Am J Hum Genet | 2016 |
| 26686870 | ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias. | Mov Disord | 2016 |
| 25759555 | Pancreatic intraductal papillary mucinous neoplasm in a patient with Lynch syndrome. | World J Gastroenterol | 2015 |
| 26537056 | ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. | Neurology | 2015 |
| 26076170 | R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family: Clinical, Genetic, and Neuropathological Study. | JAMA Neurol | 2015 |
| 26204995 | Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes. | Hum Genet | 2015 |
| 25637381 | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. | Genome Res | 2015 |
| 24700542 | Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. | Ann Neurol | 2014 |
| 24810580 | De novo microdeletion of BCL11A is associated with severe speech sound disorder. | Am J Med Genet A | 2014 |
| 24807833 | Genome scan for cognitive trait loci of dyslexia: Rapid naming and rapid switching of letters, numbers, and colors. | Am J Med Genet B Neuropsychiatr Genet | 2014 |
| 23308072 | The genetics of reading disabilities: from phenotypes to candidate genes. | Front Psychol | 2013 |
| 24055113 | Actionable, pathogenic incidental findings in 1,000 participants' exomes. | Am J Hum Genet | 2013 |
| 24027063 | Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. | Hum Mutat | 2013 |
| 23595882 | Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS). | Hum Mol Genet | 2013 |
| 23619277 | A mosaic PTEN mutation causing Cowden syndrome identified by deep sequencing. | Genet Med | 2013 |
| 23339324 | Deficits in sequential processing manifest in motor and linguistic tasks in a multigenerational family with childhood apraxia of speech. | Clin Linguist Phon | 2013 |
| 23339292 | Associations among measures of sequential processing in motor and linguistics tasks in adults with and without a family history of childhood apraxia of speech: a replication study. | Clin Linguist Phon | 2013 |
| 21827914 | Spinocerebellar ataxia type 14. | Handb Clin Neurol | 2012 |
| 22782511 | Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. | Arch Neurol | 2012 |
| 22920929 | Wenckebach periodicity at rest that normalizes with tachycardia in a family with a NKX2.5 mutation. | Am J Cardiol | 2012 |