Joshua Dalmann

Vancouver, BC, Canada

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Journal: Journal of human immunity

Published: April 15, 2026

Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.

Combined Long-Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2.

Journal: American journal of medical genetics. Part A

Published: November 24, 2025

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Human germline biallelic loss-of-function OSMR variants cause severe allergic disease.

Journal: medRxiv : the preprint server for health sciences

Published: September 19, 2025

Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.

Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.

Journal: American journal of medical genetics. Part A

Published: November 23, 2023

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

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

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

Showing 1-10 of 10

Last Updated: 09/26/2026