DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

RIT1 oncoproteins escape LZTR1-mediated proteolysis

(2019) Pau Castel et al.   SCIENCE

All-cause mortality and survival in adults with 22q11.2 deletion syndrome

(2019) Lily Van et al.   GENETICS IN MEDICINE

Structural basis of siRNA recognition by TRBP double‐stranded RNA binding domains

(2018) Gregoire Masliah et al.   EMBO JOURNAL

Recurrent homozygous deletion of DROSHA and microduplication of PDE4DIP in pineoblastoma

(2018) Matija Snuderl et al.   Nature Communications

The miRNA biogenesis pathway prevents inappropriate expression of injury response genes in developing and adult Schwann cells

(2018) Deniz Gökbuget et al.   GLIA

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling

(2018) Marialetizia Motta et al.   HUMAN MOLECULAR GENETICS

Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination

(2018) M. Steklov et al.   SCIENCE

Merlin controls the repair capacity of Schwann cells after injury by regulating Hippo/YAP activity

(2017) Thomas Mindos et al.   JOURNAL OF CELL BIOLOGY

Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study

(2017) Nicholas E. Khan et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A Children's Oncology Group and TARGET initiative exploring the genetic landscape of Wilms tumor

(2017) Samantha Gadd et al.   NATURE GENETICS

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis

(2016) Hildegard Kehrer-Sawatzki et al.   HUMAN GENETICS

Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter

(2016) Leanne de Kock et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Recurrent DGCR8, DROSHA, and SIX Homeodomain Mutations in Favorable Histology Wilms Tumors

(2015) Amy L. Walz et al.   CANCER CELL

Mutations in the SIX1/2 Pathway and the DROSHA/DGCR8 miRNA Microprocessor Complex Underlie High-Risk Blastemal Type Wilms Tumors

(2015) Jenny Wegert et al.   CANCER CELL

Functional Anatomy of the Human Microprocessor

(2015) Tuan Anh Nguyen et al.   CELL

Microprocessor Complex Subunit DiGeorge Syndrome Critical Region Gene 8 (Dgcr8) Is Required for Schwann Cell Myelination and Myelin Maintenance

(2015) Hsin-Pin Lin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

(2015) Leanne de Kock et al.   JOURNAL OF MEDICAL GENETICS

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

The Molecular Signatures Database Hallmark Gene Set Collection

(2015) Arthur Liberzon et al.   Cell Systems

22q11.2 deletion syndrome

(2015) Donna M. McDonald-McGinn et al.   Nature Reviews Disease Primers

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants

(2014) Sonja Hutter et al.   ACTA NEUROPATHOLOGICA

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

(2014) Leanne de Kock et al.   ACTA NEUROPATHOLOGICA

ExomeAI: detection of recurrent allelic imbalance in tumors using whole-exome sequencing data

(2014) Javad Nadaf et al.   BIOINFORMATICS

Integrated Genomic Characterization of Papillary Thyroid Carcinoma

(2014) Nishant Agrawal et al.   CELL

Recurrent somatic mutation in DROSHA induces microRNA profile changes in Wilms tumour

(2014) Giovana T. Torrezan et al.   Nature Communications

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria

(2013) Scott R. Plotkin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations

(2013) Umadevi Paila et al.   PLoS Computational Biology

BRAFV600E andKRASG12S mutations in peripheral nerve sheath tumours

(2012) César Serrano et al.   HISTOPATHOLOGY

Mirtrons: microRNA biogenesis via splicing

(2011) Jakub O. Westholm et al.   BIOCHIMIE

Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

(2011) DR Bertola et al.   CLINICAL GENETICS

DICER1 Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors

(2011) Thomas Rio Frio   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Opposing microRNA families regulate self-renewal in mouse embryonic stem cells

(2010) Collin Melton et al.   NATURE

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

(2009) Helen V. Firth et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mouse ES cells express endogenous shRNAs, siRNAs, and other Microprocessor-independent, Dicer-dependent small RNAs

(2008) J. E. Babiarz et al.   GENES & DEVELOPMENT

Evidence of a four-hit mechanism involvingSMARCB1andNF2in schwannomatosis-associated schwannomas

(2007) Roberta Sestini et al.   HUMAN MUTATION