Inherited mutations affecting the SRCAP complex are central in moderate-penetrance predisposition to uterine leiomyomas

Molecular subclass of uterine fibroids predicts tumor shrinkage in response to ulipristal acetate

(2022) Åsa Kolterud et al.   HUMAN MOLECULAR GENETICS

A novel uterine leiomyoma subtype exhibits NRF2 activation and mutations in genes associated with neddylation of the Cullin 3-RING E3 ligase

(2022) Miika Mehine et al.   Oncogenesis

Endometrial Cancer Risk in Women with Germline BRCA1 or BRCA2 Mutations: Multicenter Cohort Study

(2021) Marthe M de Jonge et al.   JNCI-Journal of the National Cancer Institute

Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology

(2021) Outi Uimari et al.   ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA

Deficient H2A.Z deposition is associated with genesis of uterine leiomyoma

(2021) Davide G. Berta et al.   NATURE

Rare variant contribution to human disease in 281,104 UK Biobank exomes

(2021) Quanli Wang et al.   NATURE

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

(2020) Wei Zhou et al.   NATURE GENETICS

GPU accelerated adaptive banded event alignment for rapid comparative nanopore signal analysis

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Exome sequencing and characterization of 49,960 individuals in the UK Biobank

(2020) Cristopher V. Van Hout et al.   NATURE

Predicting Splicing from Primary Sequence with Deep Learning

(2019) Kishore Jaganathan et al.   CELL

The histone variant H2A.Z in gene regulation

(2019) Benedetto Daniele Giaimo et al.   Epigenetics & Chromatin

Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing

(2019) Peter Edge et al.   Nature Communications

Minimap2: pairwise alignment for nucleotide sequences

(2018) Heng Li   BIOINFORMATICS

NanoPack: visualizing and processing long-read sequencing data

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Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits

(2018) Thorunn Rafnar et al.   Nature Communications

Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability

(2018) Niko Välimäki et al.   eLife

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas

(2017) Hanna-Riikka Heinonen et al.   Scientific Reports

QuPath: Open source software for digital pathology image analysis

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Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers

(2016) Miika Mehine et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Uterine Fibroids

(2015) Elizabeth A. Stewart   NEW ENGLAND JOURNAL OF MEDICINE

SMARCB1 Involvement in the Development of Leiomyoma in a Patient With Schwannomatosis

(2014) Theo J.M. Hulsebos et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

MED12 mutation frequency in unselected sporadic uterine leiomyomas

(2014) Hanna-Riikka Heinonen et al.   FERTILITY AND STERILITY

Genomics of uterine leiomyomas: insights from high-throughput sequencing

(2014) Miika Mehine et al.   FERTILITY AND STERILITY

MED12 and HMGA2 mutations: two independent genetic events in uterine leiomyoma and leiomyosarcoma

(2014) Elizabeth Bertsch et al.   MODERN PATHOLOGY

Exomic landscape ofMED12mutation-negative and -positive uterine leiomyomas

(2013) Netta Mäkinen et al.   INTERNATIONAL JOURNAL OF CANCER

Characterization of Uterine Leiomyomas by Whole-Genome Sequencing

(2013) Miika Mehine et al.   NEW ENGLAND JOURNAL OF MEDICINE

African Ancestry and Genetic Risk for Uterine Leiomyomata

(2012) L. A. Wise et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Genome-wide Linkage and Association Analyses Implicate FASN in Predisposition to Uterine Leiomyomata

(2012) Stacey L. Eggert et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Etiology, Diagnosis, and Management of Uterine Leiomyomas

(2012) Kate E. Rice et al.   JOURNAL OF MIDWIFERY & WOMENS HEALTH

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

The estimated annual cost of uterine leiomyomata in the United States

(2011) Eden R. Cardozo et al.   AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY

A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids

(2011) Pei-Chieng Cha et al.   NATURE GENETICS

MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas

(2011) N. Makinen et al.   SCIENCE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Risks of Lynch Syndrome Cancers for MSH6 Mutation Carriers

(2009) Laura Baglietto et al.   JNCI-Journal of the National Cancer Institute

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Association of Germline Mutations in the Fumarate Hydratase Gene and Uterine Fibroids in Women With Hereditary Leiomyomatosis and Renal Cell Cancer

(2008) Laveta Stewart et al.   ARCHIVES OF DERMATOLOGY

Cowden Syndrome: A Critical Review of the Clinical Literature

(2008) Robert Pilarski   Journal of Genetic Counseling

APC and the three-hit hypothesis

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