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Novel TREM2 splicing isoform that lacks the V‐set immunoglobulin domain is abundant in the human brain

Journal of leukocyte biology, 2021-11, Vol.110 (5), p.829-837

2021

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Effect of simvastatin on CSF Alzheimer disease biomarkers in cognitively normal adults

Neurology, 2017-09, Vol.89 (12), p.1251-1255

2017

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Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech

PloS one, 2016-04, Vol.11 (4), p.e0153864

2016

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TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing

Brain (London, England : 1878), 2024-07, Vol.147 (7), p.2368-2383

2024

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NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease

Journal of the neurological sciences, 2023-09, Vol.452, p.120763-120763, Article 120763

2023

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Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation

Acta neuropathologica, 2023-06, Vol.145 (6), p.749-772

2023

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ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

Movement disorders, 2016-01, Vol.31 (1), p.147-148

2016

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ADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder

Movement disorders clinical practice (Hoboken, N.J.), 2019-09, Vol.6 (7), p.512-520

2019

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Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain

Frontiers in immunology, 2020-09, Vol.11, p.559342

2020

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Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants

Neuromuscular disorders : NMD, 2020-07, Vol.30 (7), p.572-575

2020

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Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants

PloS one, 2017-10, Vol.12 (10), p.e0185777

2017

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Integrative analysis of RUNX1 downstream pathways and target genes

BMC genomics, 2008-07, Vol.9 (1), p.363-363, Article 363

2008

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Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

Human molecular genetics, 2013-08, Vol.22 (16), p.3259-3268

2013

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Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression

Archives of clinical neuropsychology, 2022-01, Vol.37 (1), p.217-225

2022

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Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition

Science signaling, 2022-09, Vol.15 (753), p.eabk1147

2022

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The genetics of reading disabilities: from phenotypes to candidate genes

Frontiers in psychology, 2013-01, Vol.3, p.601-601

2013

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Biochemical and imaging surveillance in Li-Fraumeni syndrome

The lancet oncology, 2016-11, Vol.17 (11), p.e472-e472

2016

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Human phenotypes associated with GATA-1 mutations

Gene, 2008-12, Vol.427 (1), p.1-6

2008

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The effect of algorithms on copy number variant detection

PloS one, 2010-12, Vol.5 (12), p.e14456-e14456

2010

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Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations

Parkinsonism & related disorders, 2022-08, Vol.101, p.31-38

2022

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Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes

Human genetics, 2015-10, Vol.134 (10), p.1055-1068

2015

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Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Genome research, 2015-03, Vol.25 (3), p.305-315

2015

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Inherited thrombocytopenia due to GATA-1 mutations

Seminars in thrombosis and hemostasis, 2011-09, Vol.37 (6), p.682-689

2011

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Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene

Translational psychiatry, 2019-01, Vol.9 (1), p.4-4, Article 4

2019

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Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample

Journal of neurodevelopmental disorders, 2011-03, Vol.3 (1), p.39-49

2011

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Novel TREM2 splicing isoform that lacks the V‐set immunoglobulin domain is abundant in the human brain

Effect of simvastatin on CSF Alzheimer disease biomarkers in cognitively normal adults

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech

TREM2 variants that cause early dementia and increase Alzheimer's disease risk affect gene splicing

NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

ADCY5–Related Dyskinesia: Improving Clinical Detection of an Evolving Disorder

Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer's Disease Brain

Mutations in the SIGMAR1 gene cause a distal hereditary motor neuropathy phenotype mimicking ALS: Report of two novel variants

Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants

Integrative analysis of RUNX1 downstream pathways and target genes

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

Familial Idiopathic Basal Ganglia Calcification: A Father-Son Dyad Demonstrate Heterogeneity of Presentation and Disease Progression

Mutations in protein kinase Cγ promote spinocerebellar ataxia type 14 by impairing kinase autoinhibition

The genetics of reading disabilities: from phenotypes to candidate genes

Biochemical and imaging surveillance in Li-Fraumeni syndrome

Human phenotypes associated with GATA-1 mutations

The effect of algorithms on copy number variant detection

Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations

Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

Inherited thrombocytopenia due to GATA-1 mutations

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene

Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample

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