Jukka S. Moilanen

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Tarjinder Singh, Mitja Kurki, David Curtis et al. · Nature Neuroscience · 2016 · 476 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families

Xin Yang, Goska Leslie, Alicja Doroszuk et al. · Journal of Clinical Oncology · 2019 · 418 citations · Full text

Life Sciences, Genetics, Oncology +17

Epidemiology of A3243G, the Mutation for Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes: Prevalence of the Mutation in an Adult Population

Kari Majamaa, Jukka S. Moilanen, Seija Uimonen et al. · The American Journal of Human Genetics · 1998 · 385 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

Cristina Woellner, E. Michael Gertz, Alejandro A. Schäffer et al. · Journal of Allergy and Clinical Immunology · 2010 · 319 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Biallelic Mutations in <i>BRCA1</i> Cause a New Fanconi Anemia Subtype

Sarah L. Sawyer, Lei Tian, Marketta Kähkönen et al. · Cancer Discovery · 2014 · 284 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13