Detalhe da pesquisa
1.
Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.
Am J Med Genet A
; : e63574, 2024 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38436530
2.
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Am J Med Genet A
; 194(1): 64-69, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37705207
3.
Unmasking the challenges of Kabuki syndrome in adulthood: A case series.
Am J Med Genet C Semin Med Genet
; 193(2): 128-138, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37296540
4.
Comparison of Transthoracic Contrast Echocardiography with High-Resolution Chest CT after Embolization of Pulmonary Arteriovenous Malformation.
J Vasc Interv Radiol
; 34(8): 1435-1440, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37142214
5.
A network of nuclear envelope membrane proteins linking centromeres to microtubules.
Cell
; 134(3): 427-38, 2008 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-18692466
6.
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.
Am J Med Genet A
; 179(6): 1063-1068, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924273
7.
CEP290 and the primary cilium.
Adv Exp Med Biol
; 801: 519-25, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24664739
8.
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
medRxiv
; 2024 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38559092
9.
Sex-Specific Effect of MTSS1 Downregulation on Dilated Cardiomyopathy.
medRxiv
; 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38464240
10.
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
HGG Adv
; 4(4): 100226, 2023 10 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37593415
11.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
medRxiv
; 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37609227
12.
Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19.
Nat Genet
; 54(2): 125-127, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027740
13.
The Penn Medicine BioBank: Towards a Genomics-Enabled Learning Healthcare System to Accelerate Precision Medicine in a Diverse Population.
J Pers Med
; 12(12)2022 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36556195
14.
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.
Nat Commun
; 13(1): 3428, 2022 06 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35701404
15.
eQTpLot: a user-friendly R package for the visualization of colocalization between eQTL and GWAS signals.
BioData Min
; 14(1): 32, 2021 Jul 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34273980
16.
Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome.
Genes (Basel)
; 12(6)2021 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34205270
17.
Alternative splicing of OAS1 alters the risk for severe COVID-19.
medRxiv
; 2021 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791713
18.
Exome-wide evaluation of rare coding variants using electronic health records identifies new gene-phenotype associations.
Nat Med
; 27(1): 66-72, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33432171
19.
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
Eur J Hum Genet
; 28(10): 1422-1431, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483341
20.
Author Correction: An Autogenously Regulated Expression System for Gene Therapeutic Ocular Applications.
Sci Rep
; 8(1): 17286, 2018 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-30470797