Riikka Filppula-Keski

Oulu, Finland

Last Updated: 09/26/2026

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Found 21 publications

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis.

Journal: Clinical immunology (Orlando, Fla.)

Published: June 11, 2024

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.

Evidence for the additivity of rare and common variant burden throughout the spectrum of intellectual disability.

Journal: European journal of human genetics : EJHG

Published: July 11, 2023

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.

Journal: American journal of medical genetics. Part A

Published: May 05, 2022

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.

Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants.

Journal: Journal of clinical medicine

Published: February 22, 2022

Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity.

Heterozygous premature termination in zinc-finger domain of Krüppel-like factor 2 gene associates with dysregulated immunity.

Journal: Frontiers in immunology

Published: November 22, 2021

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.

Cytosolic phosphoenolpyruvate carboxykinase deficiency: Expanding the clinical phenotype and novel laboratory findings.

Journal: Journal of inherited metabolic disease

Published: February 22, 2021

Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.

Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype.

Journal: Clinical genetics

Published: June 16, 2020

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.

Journal: American journal of medical genetics. Part A

Published: February 21, 2020

Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition.

Evaluating the role of MLH3 p.Ser1188Ter variant in inherited breast cancer predisposition.

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

Published: October 22, 2019

Collagen XIII-derived ectodomain regulates bone angiogenesis and intracortical remodeling.

Collagen XIII-derived ectodomain regulates bone angiogenesis and intracortical remodeling.

Journal: Matrix biology : journal of the International Society for Matrix Biology

Published: April 04, 2019

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Journal: Genome medicine

Published: January 10, 2019

Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation.

Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation codon mutation.

Journal: Clinical oral investigations

Published: June 30, 2018

Showing 1-12 of 21

Last Updated: 09/26/2026