Detalhe da pesquisa
1.
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
Am J Hum Genet
; 110(12): 2015-2028, 2023 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37979581
2.
Combination of tucatinib and neural stem cells secreting anti-HER2 antibody prolongs survival of mice with metastatic brain cancer.
Proc Natl Acad Sci U S A
; 119(1)2022 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34969858
3.
Effects of exercise training on ANGPTL3/8 and ANGPTL4/8 and their associations with cardiometabolic traits.
J Lipid Res
; 65(2): 100495, 2024 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38160757
4.
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability.
Clin Genet
; 105(2): 173-184, 2024 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37899624
5.
Personal journeys to and in human genetics and dysmorphology.
Am J Med Genet A
; 194(6): e63514, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38329159
6.
Omics-driven investigation of the biology underlying intrinsic submaximal working capacity and its trainability.
Physiol Genomics
; 55(11): 517-543, 2023 Nov 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37661925
7.
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
Clin Genet
; 103(2): 167-178, 2023 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36250278
8.
X-Linked intellectual disability update 2022.
Am J Med Genet A
; 191(1): 144-159, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36300573
9.
Near-MHz temperature and H2O measurements in post-detonation fireballs of 25 g hemispherical explosives using scanned-wavelength-modulation spectroscopy.
Appl Opt
; 62(6): 1598-1609, 2023 Feb 20.
Artigo
Inglês
| MEDLINE | ID: mdl-36821325
10.
Four-color fiber-coupled mid-infrared laser-absorption sensor for temperature, CO, CO2, and NO at 5 kHz in internal combustion engine vehicle exhaust.
Appl Opt
; 62(32): 8517-8528, 2023 Nov 10.
Artigo
Inglês
| MEDLINE | ID: mdl-38037964
11.
Defining the 3'Epigenetic Boundary of the FMR1 Promoter and Its Loss in Individuals with Fragile X Syndrome.
Int J Mol Sci
; 24(13)2023 Jun 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37445892
12.
Diagnostic Utility of Genome-wide DNA Methylation Testing in Genetically Unsolved Individuals with Suspected Hereditary Conditions.
Am J Hum Genet
; 104(4): 685-700, 2019 04 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30929737
13.
Redefining the Etiologic Landscape of Cerebellar Malformations.
Am J Hum Genet
; 105(3): 606-615, 2019 09 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31474318
14.
GM3 synthase deficiency in non-Amish patients.
Genet Med
; 24(2): 492-498, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34906476
15.
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Hum Mutat
; 42(7): 835-847, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33847015
16.
(R,R)-1,12-Dimethylspermine can mitigate abnormal spermidine accumulation in Snyder-Robinson syndrome.
J Biol Chem
; 295(10): 3247-3256, 2020 03 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31996374
17.
In search of the earliest images of symmelia in works of art.
Am J Med Genet C Semin Med Genet
; 187(2): 151-156, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33982428
18.
Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.
Hum Mol Genet
; 28(24): 4089-4102, 2019 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-31691806
19.
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes.
Am J Hum Genet
; 102(1): 156-174, 2018 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29304373
20.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med
; 23(6): 1065-1074, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33547396