Jasmine Lin
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Explore the profile of Jasmine Lin including associated specialties, affiliations and a list of published articles.
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21
Citations
147
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Recent Articles
1.
Wojcik M, Wojcik M, Clark R, Clark R, Elias A, Elias A, et al.
Res Sq
. 2025 Feb;
PMID: 39975911
Incontinentia pigmenti (IP) is caused by loss-of-function variants in , with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical...
2.
Luo S, Alwattar B, Li Q, Bora K, Blomfield A, Lin J, et al.
Dis Model Mech
. 2024 Jul;
17(8).
PMID: 38966981
Inherited retinal diseases encompass a genetically diverse group of conditions caused by variants in genes critical to retinal function, including handful of ribosome-associated genes. This study focuses on the HBS1L...
3.
Luo S, Rollins S, Schmitz-Abe K, Tam A, Li Q, Shi J, et al.
Clin Chim Acta
. 2024 Jun;
561:119765.
PMID: 38852790
Background And Aims: Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations to the CF transmembrane conductance regulator (CFTR). Symptoms and severity of the disease can be quite...
4.
Wojcik M, Lemire G, Berger E, Zaki M, Wissmann M, Win W, et al.
N Engl J Med
. 2024 Jun;
390(21):1985-1997.
PMID: 38838312
Background: Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evaluation, remains...
5.
Li Q, Lin J, Luo S, Schmitz-Abe K, Agrawal R, Meng M, et al.
J Cachexia Sarcopenia Muscle
. 2024 May;
15(3):1003-1015.
PMID: 38725372
Background: Autosomal-recessive mutations in SPEG (striated muscle preferentially expressed protein kinase) have been linked to centronuclear myopathy with or without dilated cardiomyopathy (CNM5). Loss of SPEG is associated with defective...
6.
OConnell A, Raveenthiraraj S, Oliveira L, Adegboye C, Dasuri V, Qi W, et al.
Cell Mol Gastroenterol Hepatol
. 2024 May;
18(2):101349.
PMID: 38697357
Background & Aims: Humans with WNT2B deficiency have severe intestinal disease, including significant inflammatory injury, highlighting a critical role for WNT2B. We sought to understand how WNT2B contributes to intestinal...
7.
Wojcik M, Lemire G, Zaki M, Wissman M, Win W, White S, et al.
medRxiv
. 2024 Feb;
PMID: 38328047
Background: Causal variants underlying rare disorders may remain elusive even after expansive gene panels or exome sequencing (ES). Clinicians and researchers may then turn to genome sequencing (GS), though the...
8.
Luo S, Alwattar B, Li Q, Bora K, Blomfield A, Lin J, et al.
bioRxiv
. 2023 Oct;
PMID: 37905068
Inherited retinal diseases (IRDs) encompass a genetically diverse group of conditions in which mutations in genes critical to retinal function lead to progressive loss of photoreceptor cells and subsequent visual...
9.
Li Q, Lin J, Luo S, Schmitz-Abe K, Agrawal R, Meng M, et al.
bioRxiv
. 2023 May;
PMID: 37162921
Synopsis: We have previously linked mutations in (striated preferentially expressed protein) with a recessive form of centronuclear myopathy and/or dilated cardiomyopathy and have characterized a striated muscle-specific SPEG-deficient mouse model...
10.
OConnell A, Raveenthiraraj S, Adegboye C, Qi W, Khetani R, Singh A, et al.
bioRxiv
. 2023 May;
PMID: 37131772
Background And Aims: WNT2B is a canonical Wnt ligand previously thought to be fully redundant with other Wnts in the intestinal epithelium. However, humans with WNT2B deficiency have severe intestinal...