Yangfan P Liu
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Explore the profile of Yangfan P Liu including associated specialties, affiliations and a list of published articles.
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10
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446
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Recent Articles
1.
Khan K, Ahram D, Liu Y, Westland R, Sampogna R, Katsanis N, et al.
Kidney Int
. 2021 Nov;
101(3):473-484.
PMID: 34780871
Advances in clinical diagnostics and molecular tools have improved our understanding of the genetically heterogeneous causes underlying congenital anomalies of kidney and urinary tract (CAKUT). However, despite a sharp incline...
2.
Frosk P, Arts H, Philippe J, Gunn C, Brown E, Chodirker B, et al.
J Med Genet
. 2017 Mar;
54(7):490-501.
PMID: 28264986
Background: Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. The goals of this work are to describe a novel autosomal-recessive syndrome that...
3.
Lopez-Rivera E, Liu Y, Verbitsky M, Anderson B, Capone V, Otto E, et al.
N Engl J Med
. 2017 Jan;
376(8):742-754.
PMID: 28121514
Background: The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome...
4.
Liu Y, Bosch D, Siemiatkowska A, Rendtorff N, Boonstra F, Moller C, et al.
Ophthalmic Genet
. 2016 Apr;
38(2):127-132.
PMID: 27029556
Background: Retinitis pigmentosa (RP) is the most common cause of inherited retinal degeneration and can occur in non-syndromic and syndromic forms. Syndromic RP is accompanied by other symptoms such as...
5.
Turner T, Sharma K, Oh E, Liu Y, Collins R, Sosa M, et al.
Nature
. 2015 Mar;
520(7545):51-6.
PMID: 25807484
Autism is a multifactorial neurodevelopmental disorder affecting more males than females; consequently, under a multifactorial genetic hypothesis, females are affected only when they cross a higher biological threshold. We hypothesize...
6.
Lim E, Liu Y, Chan Y, Tiinamaija T, Karajamaki A, Madsen E, et al.
Am J Hum Genet
. 2014 Dec;
95(5):509-20.
PMID: 25439097
Rare-variant association studies in common, complex diseases are customarily conducted under an additive risk model in both single-variant and burden testing. Here, we describe a method to improve detection of...
7.
Carnes M, Liu Y, Allingham R, Whigham B, Havens S, Garrett M, et al.
PLoS Genet
. 2014 May;
10(5):e1004372.
PMID: 24875647
Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic inheritance. Genome-wide association studies have previously...
8.
Liu Y, Tsai I, Morleo M, Oh E, Leitch C, Massa F, et al.
J Clin Invest
. 2014 Apr;
124(5):2059-70.
PMID: 24691443
Cilia are critical mediators of paracrine signaling; however, it is unknown whether proteins that contribute to ciliopathies converge on multiple paracrine pathways through a common mechanism. Here, we show that...
9.
Nishiguchi K, Tearle R, Liu Y, Oh E, Miyake N, Benaglio P, et al.
Proc Natl Acad Sci U S A
. 2013 Sep;
110(40):16139-44.
PMID: 24043777
We performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes,...
10.
Gascue C, Tan P, Cardenas-Rodriguez M, Libisch G, Fernandez-Calero T, Liu Y, et al.
J Cell Sci
. 2012 Feb;
125(Pt 2):362-75.
PMID: 22302990
Primary cilia are conserved organelles that play crucial roles as mechano- and chemosensors, as well as transducing signaling cascades. Consequently, ciliary dysfunction results in a broad range of phenotypes: the...