List of works - Elisa Rahikkala

A mutation update on the LDS associated genes TGFB2/3 and SMAD2/3.

scientific article published in February 2018

A novel variant in SMG9 causes intellectual disability, confirming a role for nonsense-mediated decay components in neurocognitive development

scientific article published on 28 January 2022

Adrenomyeloneuropathy due to mutation in the ABCD1 gene as underlying factor in spastic paraparesis

scientific article published in January 2017

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

scientific article

Ataxia-pancytopenia syndrome with SAMD9L mutations.

scientific article

Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

scientific article published on 03 April 2019

CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

scientific article published on 4 January 2018

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

scientific article published in 2022

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

scientific article published on 29 July 2014

Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland

scientific article published in Nature Communications

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

scientific article published on 01 April 2020

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

scientific article published on 27 November 2014

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

scientific article published on 20 June 2019

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

scientific article published on 15 February 2017

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.

scientific article published on 18 July 2017

Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis

scientific article published on 30 June 2017

Microdeletion of 7p12.1p13, including IKZF1, causes intellectual impairment, overgrowth, and susceptibility to leukaemia

scientific article published on 13 July 2018

Novel homozygous PCK1 mutation causing cytosolic phosphoenolpyruvate carboxykinase deficiency presenting as childhood hypoglycemia, an abnormal pattern of urine metabolites and liver dysfunction.

scientific article published on 6 February 2017

Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders

scientific article published on 19 March 2019

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

scientific article published on 26 March 2019

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.

scientific article published on 30 June 2016

List of works by Elisa Rahikkala