Search details
1.
Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.
Am J Hum Genet
; 110(4): 663-680, 2023 04 06.
Article
in English
| MEDLINE | ID: mdl-36965478
2.
Evaluating the association between genetically proxied ACE inhibition and dementias.
Alzheimers Dement
; 19(9): 3894-3901, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37023267
3.
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet
; 105(3): 509-525, 2019 09 05.
Article
in English
| MEDLINE | ID: mdl-31422817
4.
MOBP and HIP1 in multiple system atrophy: New α-synuclein partners in glial cytoplasmic inclusions implicated in the disease pathogenesis.
Neuropathol Appl Neurobiol
; 47(5): 640-652, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33368549
5.
Hypertension and Age-Related Cognitive Impairment: Common Risk Factors and a Role for Precision Aging.
Curr Hypertens Rep
; 22(10): 80, 2020 09 03.
Article
in English
| MEDLINE | ID: mdl-32880739
6.
Sex differences in the genetic predictors of Alzheimer's pathology.
Brain
; 142(9): 2581-2589, 2019 09 01.
Article
in English
| MEDLINE | ID: mdl-31497858
7.
Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis.
Genet Med
; 21(5): 1199-1208, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30287925
8.
Conservation of Distinct Genetically-Mediated Human Cortical Pattern.
PLoS Genet
; 12(7): e1006143, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27459196
9.
Polygenic risk score analysis of pathologically confirmed Alzheimer disease.
Ann Neurol
; 82(2): 311-314, 2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28727176
10.
Sex-specific genetic predictors of Alzheimer's disease biomarkers.
Acta Neuropathol
; 136(6): 857-872, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29967939
11.
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotype.
Am J Med Genet A
; 176(7): 1549-1558, 2018 07.
Article
in English
| MEDLINE | ID: mdl-30160831
12.
Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias.
PLoS Genet
; 10(9): e1004606, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-25188341
13.
MECP2 impairs neuronal structure by regulating KIBRA.
Neurobiol Dis
; 91: 284-91, 2016 07.
Article
in English
| MEDLINE | ID: mdl-27015692
14.
An early clinical phenotype of necrotizing meningoencephalitis in the Pug reveals similarities to multiple sclerosis in humans.
Am J Vet Res
; 85(1)2024 Jan 01.
Article
in English
| MEDLINE | ID: mdl-37913632
15.
Evaluating the Association Between Genetically Proxied Neurodevelopmental Language Phenotypes and the Risk of Primary Progressive Aphasia.
Neurology
; 100(18): e1922-e1929, 2023 05 02.
Article
in English
| MEDLINE | ID: mdl-36889925
16.
Parent-reported child appetite moderates relationships between child genetic obesity risk and parental feeding practices.
Front Nutr
; 10: 1174441, 2023.
Article
in English
| MEDLINE | ID: mdl-37324730
17.
Remote, unsupervised functional motor task evaluation in older adults across the United States using the MindCrowd electronic cohort.
medRxiv
; 2021 May 19.
Article
in English
| MEDLINE | ID: mdl-34031669
18.
Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variant.
J AAPOS
; 25(6): 370-373, 2021 12.
Article
in English
| MEDLINE | ID: mdl-34628026
19.
Mind the Quality Gap When Banking on Dry Blood Spots.
Biopreserv Biobank
; 19(2): 136-142, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33567235
20.
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
Genome Med
; 13(1): 153, 2021 10 14.
Article
in English
| MEDLINE | ID: mdl-34645491