Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

(2020) Julien Buratti et al.   JOURNAL OF MEDICAL GENETICS

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

(2020) Konrad J. Karczewski et al.   NATURE

Structure of the super-elongation complex subunit AFF4 C-terminal homology domain reveals requirements for AFF homo- and heterodimerization

(2019) Ying Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

De novo AFF3 variant in a patient with mesomelic dysplasia with foot malformation

(2019) Daisuke Shimizu et al.   JOURNAL OF HUMAN GENETICS

Identification of pathogenic variant enriched regions across genes and gene families

(2019) Eduardo Pérez-Palma et al.   GENOME RESEARCH

MEGA X: Molecular Evolutionary Genetics Analysis across Computing Platforms

(2018) Sudhir Kumar et al.   MOLECULAR BIOLOGY AND EVOLUTION

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

(2018) Annalisa Buniello et al.   NUCLEIC ACIDS RESEARCH

Genomic diagnosis for children with intellectual disability and/or developmental delay

(2017) Kevin M. Bowling et al.   Genome Medicine

Regulation of the imprintedDlk1-Dio3locus by allele-specific enhancer activity

(2016) Zhuojuan Luo et al.   GENES & DEVELOPMENT

A permissive chromatin state regulated by ZFP281-AFF3 in controlling the imprinted Meg3 polycistron

(2016) Yan Wang et al.   NUCLEIC ACIDS RESEARCH

Nosology and classification of genetic skeletal disorders: 2015 revision

(2015) Luisa Bonafe et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels

(2015) Yongwook Choi et al.   BIOINFORMATICS

Clinical application of whole-exome sequencing across clinical indications

(2015) Kyle Retterer et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Common polymorphisms in WNT10A affect tooth morphology as well as hair shape

(2015) Ryosuke Kimura et al.   HUMAN MOLECULAR GENETICS

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

(2015) Nara Sobreira et al.   HUMAN MUTATION

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

(2015) Toshiki Takenouchi et al.   JOURNAL OF PEDIATRICS

Germline gain-of-function mutations in AFF4 cause a developmental syndrome functionally linking the super elongation complex and cohesin

(2015) Kosuke Izumi et al.   NATURE GENETICS

Getting up to speed with transcription elongation by RNA polymerase II

(2015) Iris Jonkers et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

(2015) Katerina Kraft et al.   Cell Reports

Cpipe: a shared variant detection pipeline designed for diagnostic settings

(2015) Simon P. Sadedin et al.   Genome Medicine

Combined transcriptome studies identify AFF3 as a mediator of the oncogenic effects of β-catenin in adrenocortical carcinoma

(2015) L Lefèvre et al.   Oncogenesis

Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction

(2014) Øystein Holla et al.   ENDOSCOPY

TBC1D7Mutations are Associated with Intellectual Disability, Macrocrania, Patellar Dislocation, and Celiac Disease

(2014) Ali Abdullah Alfaiz et al.   HUMAN MUTATION

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Investigating the Molecular Basis of Siah1 and Siah2 E3 Ubiquitin Ligase Substrate Specificity

(2014) Anupriya Gopalsamy et al.   PLoS One

Laf4/Aff3, a Gene Involved in Intellectual Disability, Is Required for Cellular Migration in the Mouse Cerebral Cortex

(2014) Justin M. Moore et al.   PLoS One

FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3

(2014) Sofie Metsu et al.   PLoS Genetics

WNT signaling in bone development and homeostasis

(2014) Zhendong Zhong et al.   Wiley Interdisciplinary Reviews-Developmental Biology

The MLL recombinome of acute leukemias in 2013

(2013) C Meyer et al.   LEUKEMIA

Defining and searching for structural motifs using DeepView/Swiss-PdbViewer

(2012) Maria U Johansson et al.   BMC BIOINFORMATICS

The International Mouse Phenotyping Consortium: past and future perspectives on mouse phenotyping

(2012) Steve D. M. Brown et al.   MAMMALIAN GENOME

The Super Elongation Complex Family of RNA Polymerase II Elongation Factors: Gene Target Specificity and Transcriptional Output

(2012) Z. Luo et al.   MOLECULAR AND CELLULAR BIOLOGY

The super elongation complex (SEC) family in transcriptional control

(2012) Zhuojuan Luo et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Transcriptomes of germinal zones of human and mouse fetal neocortex suggest a role of extracellular matrix in progenitor self-renewal

(2012) S. A. Fietz et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability

(2011) Mireille Melko et al.   HUMAN MOLECULAR GENETICS

Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega

(2011) F. Sievers et al.   Molecular Systems Biology

A conditional knockout resource for the genome-wide study of mouse gene function

(2011) William C. Skarnes et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Jalview Version 2--a multiple sequence alignment editor and analysis workbench

(2009) A. M. Waterhouse et al.   BIOINFORMATICS

Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4

(2009) E Steichen-Gersdorf et al.   CLINICAL GENETICS

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

(2009) Prateek Kumar et al.   Nature Protocols