Lotta E. Koskinen

Espoo, Finland

Last Updated: 09/26/2026

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Found 17 publications

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Journal: Kidney medicine

Published: January 09, 2026

Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes.

Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes.

Journal: Breast cancer research and treatment

Published: July 07, 2024

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

Journal: Frontiers in cardiovascular medicine

Published: July 06, 2023

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.

Journal: PloS one

Published: January 08, 2021

Breed-specific reference ranges for standard echocardiographic measurements in salukis.

Breed-specific reference ranges for standard echocardiographic measurements in salukis.

Journal: The Journal of small animal practice

Published: August 31, 2018

Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant.

Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant.

Journal: European journal of neurology

Published: May 22, 2018

The Psoriasis Risk Allele HLA-C*06:02 Shows Evidence of Association with Chronic or Recurrent Streptococcal Tonsillitis.

The Psoriasis Risk Allele HLA-C*06:02 Shows Evidence of Association with Chronic or Recurrent Streptococcal Tonsillitis.

Journal: Infection and immunity

Published: April 23, 2018

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.

Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: February 23, 2017

Analysis of Complement C3 Gene Reveals Susceptibility to Severe Preeclampsia.

Analysis of Complement C3 Gene Reveals Susceptibility to Severe Preeclampsia.

Journal: Frontiers in immunology

Published: January 27, 2017

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

Erratum: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.

Journal: Nature communications

Published: September 14, 2016

Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations.

Paroxysmal Dyskinesia in Border Terriers: Clinical, Epidemiological, and Genetic Investigations.

Journal: Journal of veterinary internal medicine

Published: July 31, 2016

ADAM23 is a common risk gene for canine idiopathic epilepsy.

ADAM23 is a common risk gene for canine idiopathic epilepsy.

Journal: BMC genetics

Published: January 13, 2016

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Last Updated: 09/26/2026