Susan Y. Lin

950 West 28 Th Avenue
Vancouver, BC V5Z4H4, Canada

Last Updated: 09/26/2026

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Found 13 publications

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.

A Germline Heterozygous Dominant Negative IKZF2 Variant Causing Syndromic Primary Immune Regulatory Disorder and ICHAD.

Journal: Journal of clinical immunology
Published: June 14, 2024

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.

ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma.

Journal: The Journal of experimental medicine
Published: June 01, 2024

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.

Journal: HGG advances
Published: September 26, 2023

Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.

Generation of tandem alternative splice acceptor sites and CLTC haploinsufficiency: A cause of CLTC-related disorder.

Journal: American journal of medical genetics. Part A
Published: January 21, 2023

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

Journal: Journal of medical genetics
Published: December 27, 2022

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.

Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease.

Journal: The Journal of experimental medicine
Published: October 14, 2022

XBP1 splicing contributes to endoplasmic reticulum stress-induced human islet amyloid polypeptide up-regulation.

XBP1 splicing contributes to endoplasmic reticulum stress-induced human islet amyloid polypeptide up-regulation.

Journal: Genes & diseases
Published: May 30, 2022

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?

Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz-Jeghers syndrome?

Journal: American journal of medical genetics. Part A
Published: March 23, 2022

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.

Journal: Blood
Published: January 26, 2022

Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?

Can leaky splicing and evasion of premature termination codon surveillance contribute to the phenotypic variability in Alkuraya-Kucinskas syndrome?

Journal: European journal of medical genetics
Published: June 14, 2021

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.

Journal: Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology
Published: June 18, 2020

LRRK2 localizes to endosomes and interacts with clathrin-light chains to limit Rac1 activation.

LRRK2 localizes to endosomes and interacts with clathrin-light chains to limit Rac1 activation.

Journal: EMBO reports
Published: November 28, 2014
Showing 1-12 of 13

Last Updated: 09/26/2026