Detalhe da pesquisa
1.
Personal journeys to and in human genetics and dysmorphology.
Am J Med Genet A;
194(6): e63514, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38329159
2.
Characterization and visualization of tandem repeats at genome scale.
Nat Biotechnol;
2024 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168995
3.
Implementation of a hotline ("S-T-I-C-K") to expedite management of occupational bloodborne pathogen exposures at an academic medical center: A Process Improvement Initiative.
Am J Infect Control;
52(5): 618-620, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38211666
4.
LLPS of FXR1 drives spermiogenesis by activating translation of stored mRNAs.
Science;
377(6607): eabj6647, 2022 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35951695
5.
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome.
Proc Natl Acad Sci U S A;
119(22): e2118124119, 2022 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35617426
6.
Polycyclic aromatic hydrocarbons in cachaças packed in bottles of polyethylene terephthalate.
J Food Sci;
87(4): 1906-1915, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35275405
7.
Intercepting IRE1 kinase-FMRP signaling prevents atherosclerosis progression.
EMBO Mol Med;
14(4): e15344, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191199
8.
Stephen T. Warren, Ph.D. (1953-2021): A remembrance.
Am J Hum Genet;
109(1): 3-11, 2022 01 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34995503
9.
Functional consequences of postnatal interventions in a mouse model of Fragile X syndrome.
Neurobiol Dis;
162: 105577, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871737
10.
Stephen T. Warren: Human geneticist who advanced understanding of mutational mechanisms and developmental disorders.
Proc Natl Acad Sci U S A;
118(34)2021 08 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34417305
11.
Stephen T. Warren 1953-2021.
Nat Genet;
53(8): 1117-1118, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34267372
12.
Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR.
J Mol Diagn;
23(8): 941-951, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34111553
13.
Ectopic expression of CGG-repeats alters ovarian response to gonadotropins and leads to infertility in a murine FMR1 premutation model.
Hum Mol Genet;
30(10): 923-938, 2021 05 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33856019
14.
International Union of Basic and Clinical Pharmacology. CX. Classification of Receptors for 5-hydroxytryptamine; Pharmacology and Function.
Pharmacol Rev;
73(1): 310-520, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33370241
15.
The Opioid Epidemic: Risk Evaluation and Management Strategies for Prescribing Opioids.
Instr Course Lect;
69: 405-414, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32017742
16.
Deletion of Fmr1 from Forebrain Excitatory Neurons Triggers Abnormal Cellular, EEG, and Behavioral Phenotypes in the Auditory Cortex of a Mouse Model of Fragile X Syndrome.
Cereb Cortex;
30(3): 969-988, 2020 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31364704
17.
Intellectual and developmental disabilities research centers: Fifty years of scientific accomplishments.
Ann Neurol;
86(3): 332-343, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206741
18.
Human Serine Racemase: Key Residues/Active Site Motifs and Their Relation to Enzyme Function.
Front Mol Biosci;
6: 8, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30918891
19.
2018 Presidential Address: Who Are We?
Am J Hum Genet;
104(3): 363-372, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30849321
20.
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
Nat Commun;
10(1): 797, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30770808