Areesha Salman

950 West 28 Th Avenue
Vancouver, BC V5Z4H4, Canada

Last Updated: 09/26/2026

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Found 9 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

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 a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22).

Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22).

Journal: Stem cell research

Published: May 02, 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

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

Examining the effect of patient personality types and coping styles on outcomes of genetic counseling.

Examining the effect of patient personality types and coping styles on outcomes of genetic counseling.

Journal: Journal of genetic counseling

Published: July 07, 2021

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

Showing 1-9 of 9

Last Updated: 09/26/2026