Search details
1.
Self-similarity and vanishing diffusion in fluvial landscapes.
Proc Natl Acad Sci U S A
; 120(51): e2302401120, 2023 Dec 19.
Article
in English
| MEDLINE | ID: mdl-38096414
2.
Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.
PLoS Genet
; 18(11): e1010367, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36327219
3.
Mendelian pathway analysis of laboratory traits reveals distinct roles for ciliary subcompartments in common disease pathogenesis.
Am J Hum Genet
; 108(3): 482-501, 2021 03 04.
Article
in English
| MEDLINE | ID: mdl-33636100
4.
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.
Article
in English
| MEDLINE | ID: mdl-38436530
5.
Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA.
Am J Med Genet A
; 194(1): 64-69, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-37705207
6.
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.
Article
in English
| MEDLINE | ID: mdl-37296540
7.
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.
Article
in English
| MEDLINE | ID: mdl-37142214
8.
A network of nuclear envelope membrane proteins linking centromeres to microtubules.
Cell
; 134(3): 427-38, 2008 Aug 08.
Article
in English
| MEDLINE | ID: mdl-18692466
9.
Self-regularization in turbulence from the Kolmogorov 4/5-law and alignment.
Philos Trans A Math Phys Eng Sci
; 380(2226): 20210033, 2022 Jun 27.
Article
in English
| MEDLINE | ID: mdl-35527633
10.
Bounds on heat flux for Rayleigh-Bénard convection between Navier-slip fixed-temperature boundaries.
Philos Trans A Math Phys Eng Sci
; 380(2225): 20210025, 2022 Jun 13.
Article
in English
| MEDLINE | ID: mdl-35465719
11.
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.
Article
in English
| MEDLINE | ID: mdl-30924273
12.
Inertial-Range Reconnection in Magnetohydrodynamic Turbulence and in the Solar Wind.
Phys Rev Lett
; 115(2): 025001, 2015 Jul 10.
Article
in English
| MEDLINE | ID: mdl-26207472
13.
CEP290 and the primary cilium.
Adv Exp Med Biol
; 801: 519-25, 2014.
Article
in English
| MEDLINE | ID: mdl-24664739
14.
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.
Article
in English
| MEDLINE | ID: mdl-38559092
15.
Sex-Specific Effect of MTSS1 Downregulation on Dilated Cardiomyopathy.
medRxiv
; 2024 Mar 01.
Article
in English
| MEDLINE | ID: mdl-38464240
16.
Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female-Specific Health Conditions.
J Am Heart Assoc
; 12(5): e026561, 2023 03 07.
Article
in English
| MEDLINE | ID: mdl-36846987
17.
Phenotypes of undiagnosed adults with actionable OTC and GLA variants.
HGG Adv
; 4(4): 100226, 2023 10 12.
Article
in English
| MEDLINE | ID: mdl-37593415
18.
A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations.
medRxiv
; 2023 Aug 10.
Article
in English
| MEDLINE | ID: mdl-37609227
19.
The statistical geometry of material loops in turbulence.
Nat Commun
; 13(1): 2088, 2022 Apr 19.
Article
in English
| MEDLINE | ID: mdl-35440546
20.
Multi-ancestry fine mapping implicates OAS1 splicing in risk of severe COVID-19.
Nat Genet
; 54(2): 125-127, 2022 02.
Article
in English
| MEDLINE | ID: mdl-35027740