Janna Saarela

University of Helsinki

Finland

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Articles (25)

Decreased mitochondrial NAD+ in WRN deficient cells links to dysfunctional proliferation

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Year:

2025

Heterozygous loss of MAP4K1 causes immune dysregulation by amplifying T-cell responses

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2025

Genome sequencing reveals CCDC88A variants in malformations of cortical development and immune dysfunction

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2025

Pulmonary Aspergillosis and Low HIES Score in a Family with STAT3 N-Terminal Domain Mutation

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2025

Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis

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Year:

2024

Genetic mapping across autoimmune diseases reveals shared associations and mechanisms

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2024

Haplotype information of large neuromuscular disease genes provided by linked-read sequencing has a potential to increase diagnostic yield

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2024

Meeting summary of The NYO3 5th NO-Age/AD meeting and the 1st Norway-UK joint meeting on ageing and dementia: recent progress on the mechanisms and interventional strategies.

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2024

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma

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2024

Clinical Course and Family History of Adult Patient with Novel MYSM1 Variant

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2024

Recurrent ocular toxoplasmosis is associated with interferon-gamma deficiency possibly due to genetic origin

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2024

Pharmacogenomics of clinical response to Natalizumab in multiple sclerosis

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2024

Homozygosity of a Founder Variant c.1508dupC in DOK7 Causes Congenital Myasthenia With Variable Severity

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2024

Relevance of coding variation in filaggrin and DOCK8 in Finnish pediatric patients with early-onset moderate-to-severe atopic dermatitis

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2023

Locus for severity implicates CNS resilience in progression of multiple sclerosis.

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2023

Long-term follow up of families with pathogenic NFKB1 variants reveals incomplete penetrance and frequent inflammatory sequelae

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2023

Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia

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2023

Inflammation and Neutrophil Oxidative Burst in a Family with NFKB1 p.R157X LOF and Sterile Necrotizing Fasciitis

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2023

Evaluation and Management of Deficiency of Adenosine Deaminase 2: An International Consensus Statement.

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2023

Implementing a Functional Precision Medicine Tumor Board for Acute Myeloid Leukemia

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2022

Genetics of multiple sclerosis

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2022

A novel desmoplakin mutation causes dilated cardiomyopathy with palmoplantar keratoderma as an early clinical sign

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2022

A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment

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2021

Loss-of-function mutation in IKZF2 leads to immunodeficiency with dysregulated germinal center reactions and reduction of MAIT cells

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Year:

2021

Hematopoietic Cell Transplantation Cures Adenosine Deaminase 2 Deficiency

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Year:

2021

Collaborators (49)

Vilja Pietiäinen

University of Helsinki

FINLAND

Finn Sellebjerg

Professor

Copenhagen University Hospital

DENMARK

Pernilla Stridh

Karolinska Institutet

SWEDEN

Timo Hautala

Professor in microbiology and immunology

University of Oulu

FINLAND

Markku Varjosalo

University of Helsinki

FINLAND

Sergio E Baranzini

University of California

UNITED STATES

Antti Hassinen

University of Helsinki

FINLAND

Swapnil Potdar

University of Helsinki

FINLAND

Mikko Seppänen

University of Helsinki

FINLAND

Maria Ban

University of Cambridge

UNITED KINGDOM

Katayoun Alikhani

Clinical Associate Professor

University of Calgary

CANADA

Joost Smolders

Neurologist/ Associate Professor

Erasmus MC

NETHERLANDS

Ingrid Kockum

Research group leader at Karolinska Institutet

Karolinska Institutet

SWEDEN

Juha Grönholm

University of Helsinki

FINLAND

Marzena Pedrini

University of Western Australia

AUSTRALIA

Sanna Palosaari

University of Oulu

FINLAND

Katarina Pelin

University of Helsinki

FINLAND

Jani Saarela

University of Helsinki

FINLAND

Helle Bach Søndergaard

Head of Neuroimmunology Laboratory

DENMARK

Adil Harroud

McGill University

CANADA

Samuli Eldfors

University of Helsinki

FINLAND

Hisaya Kato

Assistant Professor

Chiba University Graduate School of Medicine

JAPAN

Iris Jonkers

Associate professor

Universitair Medisch Centrum Groningen (UMCG)

NETHERLANDS

Mika Kontro

University of Helsinki

FINLAND

Päivi Peltomäki

University of Helsinki

FINLAND

Laura Turunen

University of Helsinki

FINLAND

Kristiina Rajamäki

University of Helsinki

FINLAND

Alexander Salava

University of Helsinki

FINLAND

Matthew R. Lincoln

CANADA

Michael Khalil

AUSTRIA

Rocio Sartori Maldonado

University of Helsinki

FINLAND

Mathias Ziegler

Professor

University of Bergen

NORWAY

Femke C. C. Klouwer

NETHERLANDS

Anna Henriikka Lepistö

University of Helsinki

FINLAND

Katja Kivinen

Research Director / Head of FIMM Technology Centre

University of Helsinki

FINLAND

Anni Kauppinen

University of Helsinki

FINLAND

Cisca Wijmenga

Lodewijk Sandkuijl distinguished university professor of human genetics

University Medical Center Groningen

NETHERLANDS

Eliisa Kekäläinen

University of Helsinki

FINLAND

Kati Donner

University of Helsinki

FINLAND

Nina Hautala

University of Oulu

FINLAND

Imre Västrik

University of Helsinki

FINLAND

Heinrich Schlums

Karolinska University Hospital

SWEDEN

Salla Keskitalo

University of Helsinki

FINLAND

Alisa Olkinuora

University of Helsinki

FINLAND

Mika Mäkelä

University of Helsinki

FINLAND

Allan Kermode

University of Western Australia

AUSTRALIA

Outi Kilpivaara

University of Helsinki

FINLAND

Goncalo Barreto

University of Helsinki

FINLAND

Jaana Syrjänen

Tampere University

FINLAND