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1.
De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies.
Am J Hum Genet;
105(3): 640-657, 2019 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31402090
2.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Am J Hum Genet;
104(1): 164-178, 2019 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30580808
3.
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Am J Hum Genet;
105(2): 283-301, 2019 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31353023
4.
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Am J Hum Genet;
104(3): 530-541, 2019 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827496
5.
PFKFB3-mediated endothelial glycolysis promotes pulmonary hypertension.
Proc Natl Acad Sci U S A;
116(27): 13394-13403, 2019 Jul 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31213542
6.
The poor outcome in high molecular risk, hydroxycarbamide resistant/intolerant ET is not ameliorated by ruxolitinib.
Blood;
2019 Oct 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31578205
7.
Autism and developmental disability caused by KCNQ3 gain-of-function variants.
Ann Neurol;
86(2): 181-192, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177578
8.
Oral NaHCO3 Activates a Splenic Anti-Inflammatory Pathway: Evidence That Cholinergic Signals Are Transmitted via Mesothelial Cells.
J Immunol;
200(10): 3568-3586, 2018 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29661827
9.
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis.
Hum Mutat;
40(8): 1115-1126, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31264822
10.
Galectin-3 is expressed in vascular smooth muscle cells and promotes pulmonary hypertension through changes in proliferation, apoptosis, and fibrosis.
Am J Physiol Lung Cell Mol Physiol;
316(5): L784-L797, 2019 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30724100
11.
Essential thrombocythaemia treated with recombinant interferon: 'real world' United Kingdom referral centre experience.
Br J Haematol;
186(4): 561-564, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31090926
12.
The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease.
Clin Genet;
96(6): 521-531, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31448412
13.
The Collaborative Chronic Care Model for Mental Health Conditions: From Evidence Synthesis to Policy Impact to Scale-up and Spread.
Med Care;
57 Suppl 10 Suppl 3: S221-S227, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31517791
14.
Extensive Transduction and Enhanced Spread of a Modified AAV2 Capsid in the Non-human Primate CNS.
Mol Ther;
26(10): 2418-2430, 2018 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057240
15.
How hospitals select their patient safety priorities: An exploratory study of four Veterans Health Administration hospitals.
Health Care Manage Rev;
2019 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31498164
16.
Rationally designed AAV2 and AAVrh8R capsids provide improved transduction in the retina and brain.
Gene Ther;
25(3): 205-219, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29785047
17.
High Fat Diet Induced Hypertension is Associated with a Pro-Inflammatory T Cell Profile in Male and Female Dahl Salt Sensitive Rats.
Am J Physiol Heart Circ Physiol;
2018 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239234
18.
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Genet Med;
20(4): 464-469, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28914269
19.
Mental Health Integration in Geriatric Patient-Aligned Care Teams in the Department of Veterans Affairs.
Am J Geriatr Psychiatry;
2018 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-30409549
20.
Influence of the selective COX-2 inhibitor celecoxib on sex differences in blood pressure and albuminuria in spontaneously hypertensive rats.
Prostaglandins Other Lipid Mediat;
135: 16-20, 2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-29425800