Detalhe da pesquisa
1.
Circuit-specific gene therapy reverses core symptoms in a primate Parkinson's disease model.
Cell
; 186(24): 5394-5410.e18, 2023 11 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37922901
2.
Efficient embryonic homozygous gene conversion via RAD51-enhanced interhomolog repair.
Cell
; 184(12): 3267-3280.e18, 2021 06 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34043941
3.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A
; 191(8): 2113-2131, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377026
4.
Genetic, epigenetic, and environmental contributions to neural tube closure.
Annu Rev Genet
; 48: 583-611, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25292356
5.
The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance.
Int J Mol Sci
; 22(4)2021 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33672223
6.
Diencephalic Size Is Restricted by a Novel Interplay Between GCN5 Acetyltransferase Activity and Retinoic Acid Signaling.
J Neurosci
; 37(10): 2565-2579, 2017 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28154153
7.
HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.
Nature
; 489(7415): 313-7, 2012 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22885700
8.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Hum Mol Genet
; 23(11): 2888-900, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24403048
9.
Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects.
Haematologica
; 101(10): 1170-1179, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27479822
10.
A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A.
Hum Mol Genet
; 22(9): 1903-10, 2013 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23372042
11.
RAD21 mutations cause a human cohesinopathy.
Am J Hum Genet
; 90(6): 1014-27, 2012 Jun 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-22633399
12.
Preoperative diagnosis of benign thyroid nodules with indeterminate cytology.
N Engl J Med
; 367(8): 705-15, 2012 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-22731672
13.
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.
Blood
; 122(25): 4090-3, 2013 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24100448
14.
Scribble is required for normal epithelial cell-cell contacts and lumen morphogenesis in the mammalian lung.
Dev Biol
; 373(2): 267-80, 2013 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23195221
15.
Evaluation of participants with suspected heritable platelet function disorders including recommendation and validation of a streamlined agonist panel.
Blood
; 120(25): 5041-9, 2012 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-23002116
16.
Identifying and testing candidate genetic polymorphisms in the irritable bowel syndrome (IBS): association with TNFSF15 and TNFα.
Gut
; 62(7): 985-94, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22684480
17.
Enhancement of mediodorsal thalamus rescues aberrant belief dynamics in a mouse model with schizophrenia-associated mutation.
bioRxiv
; 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38260581
18.
A novel composition of endogenous metabolic modulators improves red blood cell properties in sickle cell disease.
EJHaem
; 5(1): 21-32, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38406513
19.
Activation of pyruvate kinase as therapeutic option for rare hemolytic anemias: Shedding new light on an old enzyme.
Blood Rev
; 61: 101103, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37353463
20.
Maximizing Small Biopsy Patient Samples: Unified RNA-Seq Platform Assessment of over 120,000 Patient Biopsies.
J Pers Med
; 13(1)2022 Dec 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675685