Cancer incidence and the risk for multiple primary cancers in neurofibromatosis type 1神经纤维瘤病1型的癌症发病率和多原发癌风险JNCI: Journal of the National Cancer InstituteIF02026-08-040OAAI
TREX1 p.A129fs and p.Y305C variants in a large multi-ethnic cohort of CADASIL-like unrelated patientsNEUROBIOLOGY OF AGINGIF3.52023-03-012OAAI
COL4A1 and COL4A2 Duplication Causes Cerebral Small Vessel Disease With Recurrent Early Onset Ischemic StrokesSTROKEIF8.92021-10-0112OA
PHACTR1 genetic variability is not critical in small vessel ischemic disease patients and PcomA recruitment in C57BL/6J miceSCIENTIFIC REPORTSIF3.92021-03-163OAAI
Whole-exome sequencing of Finnish patients with vascular cognitive impairmentEUROPEAN JOURNAL OF HUMAN GENETICSIF4.62020-12-028OAAI
Haploinsufficiency of the NF1 gene is associated with protection against diabetesJOURNAL OF MEDICAL GENETICSIF3.72020-06-226OAAI
Chorea-acanthocytosis associated with two novel heterozygous mutations in the VPS13A geneJOURNAL OF THE NEUROLOGICAL SCIENCESIF3.22020-01-012PREAI
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles新的TMEM173突变和疾病修饰等位基因的作用FRONTIERS IN IMMUNOLOGYIF5.92019-12-0548OAAI
Oligogenic basis of sporadic ALS The example of SOD1 p.Ala90Val mutationNEUROLOGY-GENETICSIF3.72019-06-0117OAAI
Pediatric malignancies in neurofibromatosis type 1: A population-based cohort studyINTERNATIONAL JOURNAL OF CANCERIF4.72019-02-1836OAAI
Prevalence of neurofibromatosis type 1 in the Finnish populationGENETICS IN MEDICINEIF6.22018-09-01106OAAI
Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentisEXPERIMENTAL EYE RESEARCHIF2.72018-03-015PREAI
Congenital anomalies in neurofibromatosis 1: a retrospective register-based total population studyORPHANET JOURNAL OF RARE DISEASESIF3.52018-01-1523OAAI
Congenital anomalies in neurofibromatosis 1: A retrospective register-based total population studyJOURNAL OF INVESTIGATIVE DERMATOLOGYIF5.72017-10-010OAAI
Multi-infarct dementia of Swedish type is caused by a 3′UTR mutation of COL4A1BRAINIF11.72017-03-2821OAAI
SNCA mutation p.Ala53Glu is derived from a common founder in the Finnish populationNEUROBIOLOGY OF AGINGIF3.52017-02-0111PREAI
The Value of FLG Null Mutations in Predicting Treatment Response in Atopic Dermatitis: An Observational Study in Finnish PatientsACTA DERMATO-VENEREOLOGICAIF3.72017-01-0124OAAI
Breast cancer in neurofibromatosis type 1: overrepresentation of unfavourable prognostic factorsBRITISH JOURNAL OF CANCERIF6.82016-12-0863OAAI
A Novel Loss-of-Function GRN Mutation p.(Tyr229*): Clinical and Neuropathological FeaturesJOURNAL OF ALZHEIMERS DISEASEIF3.12016-12-064OAAI