Detalhe da pesquisa
1.
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.
Am J Hum Genet
; 110(2): 215-227, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36586412
2.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Am J Hum Genet
; 110(5): 790-808, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37071997
3.
Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
Hum Mol Genet
; 32(5): 732-744, 2023 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067040
4.
Midlife cumulative deficit frailty predicts Alzheimer's disease-related plasma biomarkers in older adults.
Age Ageing
; 53(3)2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38454901
5.
Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
Prenat Diagn
; 44(2): 237-246, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632214
6.
The heritability of blood-based biomarkers related to risk of Alzheimer's disease in a population-based sample of early old-age men.
Alzheimers Dement
; 20(1): 356-365, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37622539
7.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Genet Med
; 25(1): 63-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399132
8.
Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.
Am J Med Genet A
; 191(7): 1900-1910, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183572
9.
Rostral-middle locus coeruleus integrity and subjective cognitive decline in early old age.
J Int Neuropsychol Soc
; 29(8): 763-774, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36524301
10.
Alzheimer's Disease Polygenic Scores Predict Changes in Episodic Memory and Executive Function Across 12 Years in Late Middle Age.
J Int Neuropsychol Soc
; 29(2): 136-147, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35184795
11.
Alcohol use and cognitive aging in middle-aged men: The Vietnam Era Twin Study of Aging.
J Int Neuropsychol Soc
; 29(3): 235-245, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35465863
12.
Associations between MRI-assessed locus coeruleus integrity and cortical gray matter microstructure.
Cereb Cortex
; 32(19): 4191-4203, 2022 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34969072
13.
Long-term blood pressure patterns in midlife and dementia in later life: Findings from the Framingham Heart Study.
Alzheimers Dement
; 19(10): 4357-4366, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37394941
14.
Associations between depression and cardiometabolic health: A 27-year longitudinal study.
Psychol Med
; 52(14): 3007-3017, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33431106
15.
A SOX3 duplication and lumbosacral spina bifida in three generations.
Am J Med Genet A
; 188(5): 1572-1577, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35098650
16.
Loeys-Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
Am J Med Genet A
; 188(7): 2237-2241, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426477
17.
Influence of young adult cognitive ability and additional education on later-life cognition.
Proc Natl Acad Sci U S A
; 116(6): 2021-2026, 2019 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670647
18.
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy.
Hum Genet
; 140(7): 1109-1120, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33944996
19.
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiency.
Genet Med
; 23(7): 1305-1314, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33731878
20.
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
Am J Med Genet A
; 185(10): 2863-2872, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050707