M. Nõukas

发表

The Diagnostic Utility of Single Long Contiguous Stretches of Homozygosity in Patients without Parental Consanguinity

S. Pajusalu, O. Žilina, Maria Yakoreva, 2015, Molecular Syndromology.

Coffin–Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene

A. Peet, M. Kals, A. Metspalu, 2014, European Journal of Human Genetics.

Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review.

M. Kals, A. Metspalu, N. Tõnisson, 2022, European journal of medical genetics.

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting

M. Kals, A. Metspalu, T. Esko, 2022, Frontiers in Genetics.

Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia

A. Metspalu, T. Esko, L. Leitsalu, 2022, Frontiers in genetics.

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

Yadav Sapkota, Thomas Meitinger, Andres Metspalu, 2017, Nature Communications.

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

A. Metspalu, H. Goebel, W. Stenzel, 2016, Neuromuscular Disorders.

De Novo SCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

M. Kals, A. Metspalu, M. Nelis, 2014, Journal of child neurology.

Syndromic intellectual disability: a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant.

C. Schwartz, E. Bonora, T. Pippucci, 2015, Gene.

Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases

R. Mägi, M. Kals, O. Žilina, 2016, Human reproduction.

Lessons learned during the process of reporting individual genomic results to participants of a population-based biobank

R. Mägi, M. Kals, A. Metspalu, 2022, European Journal of Human Genetics.

Copy number variations and cognitive phenotypes in unselected populations.

Tom R. Gaunt, Hashem A. Shihab, R. Mägi, 2015, JAMA.

Title : Copy number variations and cognitive phenotypes in unselected populations

Tom R. Gaunt, Hashem A. Shihab, R. Mägi, 2022 .

In vitro fertilization does not increase the incidence of de novo copy number alterations in fetal and placental lineages

R. Mägi, J. Vermeesch, T. Voet, 2019, Nature Medicine.

Reporting incidental findings of genomic disorder-associated copy number variants to unselected biobank participants.

A. Reymond, P. Ng, A. Metspalu, 2016, Personalized medicine.

Omics-informed CNV calls reduce false-positive rates and improve power for CNV-trait associations

R. Mägi, C. Wijmenga, Z. Kutalik, 2022, bioRxiv.

The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions

Anne W. Ndungu, Blair H. Smith, M. Jarvelin, 2023, Nature Genetics.

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

T. Acker, R. Rodenburg, T. Haack, 2019, European journal of medical genetics.

A parallel SNP array study of genomic aberrations associated with mental retardation in patients and general population in Estonia.

R. Mägi, A. Metspalu, T. Esko, 2011, European journal of medical genetics.

Overlap of Genetic Loci for Central Serous Chorioretinopathy With Age-Related Macular Degeneration.

M. Daly, P. Ellinor, A. Palotie, 2023, JAMA ophthalmology.

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta

M. Kals, A. Metspalu, S. Kõks, 2015, Human Genomics.