M. Reeve

发表

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

S Povey, D Ravine, D Lindhout, 1997, Science.

Phenome-wide association studies across large population cohorts support drug target validation

Dermot F. Reilly, P. Donnelly, C. Spencer, 2018, Nature Communications.

Phenome-wide association studies (PheWAS) across large “real-world data” population cohorts support drug target validation

Dermot F. Reilly, P. Donnelly, C. Spencer, 2017, bioRxiv.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

M. Pirinen, M. Daly, V. Salomaa, 2019, bioRxiv.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

John D. Eicher, Audrey Y. Chu, M. Pirinen, 2019, European Journal of Human Genetics.

Proteinuria is associated with persistence of antibody to streptococcal M protein in Aboriginal Australians

J. Mathews, W. Hoy, M. Reeve, 1999, Epidemiology and Infection.

FinnGen: Unique genetic insights from combining isolated population and national health register data

Aino, Pietro Della Briotta Parolo, Tuomo, 2022, medRxiv.

The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned

S. Rozen, L. Brown, D. Page, 1996, Nature Genetics.

Serrate2 is disrupted in the mouse limb-development mutant syndactylism

M. Daly, B. Birren, E. Lander, 1997, Nature.

The vibrator Mutation Causes Neurodegeneration via Reduced Expression of PITPα: Positional Complementation Cloning and Extragenic Suppression

M. Daly, E. Lander, L. Kruglyak, 1997, Neuron.

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

John D. Eicher, M. Obeidat, K. Kristiansson, 2023, Nature Communications.

Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study.

M. McCarthy, E. Lander, C. Lindgren, 2002, American journal of human genetics.

Molecular genetic advances in tuberous sclerosis

D. Kwiatkowski, J. Cheadle, J. Sampson, 2000, Human Genetics.

Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs.

D. Kwiatkowski, E. Thiele, S. Jóźwiak, 2001, American journal of human genetics.

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Matthew S. Lebo, Beryl B. Cummings, John D. Eicher, 2021, Nature Medicine.

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Beryl B. Cummings, John D. Eicher, M. Pirinen, 2020, Nature Communications.

FinnGen provides genetic insights from a well-phenotyped isolated population

Jacob C. Ulirsch, Benjamin B. Sun, Christopher N. Foley, 2023, Nature.

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

Beryl B. Cummings, John D. Eicher, Jonathan H. Chung, 2022, Communications Biology.

Glyph-based visualization of health trajectories

R. Raisamo, M. Reeve, H. Siirtola, 2022, 2022 26th International Conference Information Visualisation (IV).

Screening for Mutations in Isolated Central Hypothyroidism Reveals a Novel Mutation in Insulin Receptor Substrate 4

J. Toppari, M. Reeve, J. Kero, 2021, Frontiers in Endocrinology.

Genetic analysis of obstructive sleep apnoea discovers a strong association with cardiometabolic health

R. Mägi, V. Salomaa, L. Groop, 2020, European Respiratory Journal.

Isolation and regional mapping of 110 chromosome 22 STSs.

T. Hudson, R. Nussbaum, B. Emanuel, 1994, Genomics.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Audrey Y. Chu, M. Pirinen, M. McCarthy, 2020, European Journal of Human Genetics.

Distinct and shared genetic architectures of Gestational diabetes mellitus and Type 2 Diabetes Mellitus

A. Elliott, J. Goldstein, M. Kurki, 2023, medRxiv.

Superiority of Denaturing High Performance Liquid Chromatography over single‐stranded conformation and conformation‐sensitive gel electrophoresis for mutation detection in TSC2

D. Kwiatkowski, M. Reeve, Y. Niida, 1999, Annals of human genetics.

Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

Christopher N. Foley, R. Mägi, K. Kristiansson, 2023, Nature.

Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry)

K. Kristiansson, M. Perola, A. Havulinna, 2023, International journal of epidemiology.

A FinnGen pilot clinical recall study for Alzheimer’s disease

Pietro Della Briotta Parolo, John D. Eicher, M. Obeidat, 2023, medRxiv.

Data Resource Profile Data Resource Profile: Nationwide registry data for high-throughput epidemiology and machine learning (FinRegistry)

Joanne C. Demmler, K. Kristiansson, M. Perola, 2023 .

Oral and non-oral lichen planus show genetic heterogeneity and differential risk for autoimmune disease and oral cancer

S. Ripatti, J. Karjalainen, M. Reeve, 2024, American journal of human genetics.

Mechanisms of thyrotropin receptor–mediated phenotype variability deciphered by gene mutations and M453T-knockin model

P. Miettinen, P. Scheerer, M. Reeve, 2024, JCI insight.