Irma E. Jarvela

Helsinki, Finland

Last Updated: 09/26/2026

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Found 44 publications

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: April 05, 2026

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome.

Journal: Genome medicine

Published: December 16, 2025

Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.

Heterozygous CECR2 variants support a distinct neurodevelopmental syndrome with features overlapping cat eye syndrome.

Journal: HGG advances

Published: November 10, 2025

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorder.

Journal: American journal of human genetics

Published: July 31, 2024

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.

Journal: American journal of human genetics

Published: July 24, 2024

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.

Journal: Scientific reports

Published: January 04, 2024

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.

Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohort.

Journal: Brain communications

Published: December 08, 2023

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.

A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.

Journal: American journal of medical genetics. Part A

Published: June 20, 2023

The Finnish genetic heritage in 2022 - from diagnosis to translational research.

The Finnish genetic heritage in 2022 - from diagnosis to translational research.

Journal: Disease models & mechanisms

Published: October 26, 2022

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.

Journal: Molecular genetics & genomic medicine

Published: July 30, 2021

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders.

Journal: Journal of medical genetics

Published: April 01, 2021

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 05, 2021

Showing 1-12 of 44

Last Updated: 09/26/2026